(6)!00851 00179.75000 00000.37500
00179.87500 00000.12500
00180.25000 00000.37500 !

AA206524 Cluster Incl. AA206524:zq58b03.r1 Homo sapiens cDNA, 5 end /clone=IMAGE-645773 /clone_end=5 /gb=AA206524 /gi=1801905 /ug=Hs.9552 /len=848 33198_at 180.2

Aliases




Descriptions




External Ids


BART 1, 2, 3

ADP-ribosylation factor-like 2 binding protein 2

HGNC: 171461

BART1 1, 2, 3

Entrez Gene: 235682

ARF-like 2-binding protein 3

UniProtKB: Q9Y2Y03

Arf-like 2 binding protein BART1 2


Ensembl: ENSG000001029317

Binder of ARF2 protein 1 3

binder of Arl Two 2


binder of Arl2 2


Search outside databases for aliases for ARL2BP gene

Previous GC identifers: GC00U913737 GC16P057055

Summaries
for ARL2BP

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Jump to Section... Aliases Databases Disorders Domains/Families Drugs/Compounds Expression Function Location Medical News Orthologs Paralogs Pathways/Interactions Proteins Publications SNPs Search Box Services Summaries Technologies Transcripts TOP BOTTOM

EntrezGene summary for ARL2BP:

ADP-ribosylation factor (ARF)-like proteins (ARLs) comprise a functionally distinct group of the
ARF family of RAS-related GTPases. The protein encoded by this gene binds to ARL2.GTP with high
affinity but does not interact with ARL2.GDP, activated ARF, or RHO proteins. The lack of
detectable membrane association of this protein or ARL2 upon activation of ARL2 is suggestive of
actions distinct from those of the ARFs. This protein is considered to be the first ARL2-specific
effector identified, due to its interaction with ARL2.GTP but lack of ARL2 GTPase-activating
protein activity. [provided by RefSeq]
UniProtKB/Swiss-Prot: AR2BP_HUMAN, Q9Y2Y0
Function: May play a role as an effector of the ADP-ribosylation factor-like protein 2, ARL2

00180.37500 00000.12500
00180.75000 00000.37500 !
AB001451 Cluster Incl. AB001451:Homo sapiens mRNA for Sck, partial cds /cds=(0,1622) /gb=AB001451 /gi=3080543 /ug=Hs.30965 /len=2358 35622_at 180.7

Aliases




Descriptions




External Ids


SCK 1, 2, 3

Protein Sck 3

HGNC: 298691

SHCB 1, 2, 3

SH2 domain protein C2 3

Entrez Gene: 257592

SHC (Src homology 2 domain containing) transforming protein
2 2

UniProtKB: P980773

SLI 1, 2

Ensembl: ENSG000001299467


Src homology 2 domain-containing-transforming protein C2 3


neuronal Shc adaptor homolog 2


Search outside databases for aliases for SHC2 gene

Previous GC identifer: GC19U900043

Summaries
for SHC2

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Jump to Section... Aliases Databases Disorders Domains/Families Drugs/Compounds Expression Function Location Medical News Orthologs Paralogs Pathways/Interactions Proteins Publications SNPs Search Box Services Summaries Technologies Transcripts TOP BOTTOM

UniProtKB/Swiss-Prot: SHC2_HUMAN, P98077

Function: Signaling adapter that couples activated growth factor receptors to signaling pathway in
neurons. Involved in the signal transduction pathways of neurotrophin-activated Trk receptors in
cortical neurons (By similarity)

Gene Wiki entry for SHC2



00180.87500 00000.12500
00181.12500 00000.25000 !
AJ000534 Cluster Incl. AJ000534:Homo sapiens mRNA for epsilon-sarcoglycan /cds=(68,1381) /gb=AJ000534 /gi=2969925 /ug=Hs.110708 /len=1658 41449_at 181.1

Aliases




Descriptions




External Ids


DYT11 2, 5

dystonia 11, myoclonic 2

HGNC: 108081

ESG 2, 3

Entrez Gene: 89102

sarcoglycan, epsilon 2

Epsilon-SG 3

UniProtKB: O435563

Ensembl: ENSG000001279907




Search outside databases for aliases for SGCE gene

Previous GC identifers: GC07M092749 GC07M093812 GC07M093826 GC07M093859

Summaries
for SGCE

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Jump to Section... Aliases Databases Disorders Domains/Families Drugs/Compounds Expression Function Location Medical News Orthologs Paralogs Pathways/Interactions Proteins Publications SNPs Search Box Services Summaries Technologies Transcripts TOP BOTTOM

EntrezGene summary for SGCE:

This gene encodes a member of the sarcoglycan family. Sarcoglycans are transmembrane components in
the dystrophin-glycoprotein complex which help stabilize the muscle fiber membranes and link the
muscle cytoskeleton to the extracellular matrix. Mutations in this gene have been associated with
myoclonus-dystonia syndrome. Alternative splicing results in multiple transcript variants.
UniProtKB/Swiss-Prot: SGCE_HUMAN, O43556
Function: Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex
which forms a link between the F-actin cytoskeleton and the extracellular matrix

Gene Wiki entry for SGCE


00181.25000 00000.12500
00181.37500 00000.12500
00181.75000 00000.37500 !
U65092 Cluster Incl. U65092:Human melanocyte-specific gene 1 (msg1) mRNA, complete cds /cds=(195,776) /gb=U65092 /gi=1853996 /ug=Hs.40403 /len=853 35976_at 181.7

Aliases




Descriptions




External Ids


MSG1 2, 3

Cbp/p300-interacting transactivator 1 2

HGNC: 19861

OTTHUMP00000023529 2

Cbp/p300-interacting transactivator, with Glu/Asp-rich
carboxy-terminal domain, 1 2

Entrez Gene: 44352

UniProtKB: Q999663

OTTHUMP00000023530 2

Ensembl: ENSG000001259317

Melanocyte-specific protein 1 3


melanocyte-specific gene 1 2



Search outside databases for aliases for CITED1 gene

Previous GC identifers: GC0XM067248 GC0XM068756 GC0XM069754 GC0XM070388 GC0XM071304

Summaries
for CITED1

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Jump to Section... Aliases Databases Disorders Domains/Families Drugs/Compounds Expression Function Location Medical News Orthologs Paralogs Pathways/Interactions Proteins Publications SNPs Search Box Services Summaries Technologies Transcripts TOP BOTTOM

EntrezGene summary for CITED1:

This gene encodes a member of the CREB-binding protein/p300-interacting transactivator with
Asp/Glu-rich C-terminal domain (CITED) family of proteins. The encoded protein, also known as
melanocyte-specific gene 1, may function as a transcriptional coactivator and may play a role in
pigmentation of melanocytes. Alternatively spliced transcript variants have been described.
[provided by RefSeq]
UniProtKB/Swiss-Prot: CITE1_HUMAN, Q99966
Function: Not known, seems to be associated with pigmentation

Gene Wiki entry for CITED1


00182.12500 00000.37500 !
AB012293 Cluster Incl. AB012293:Homo sapiens LY6H mRNA, complete cds /cds=(146,568) /gb=AB012293 /gi=3821798 /ug=Hs.159590 /len=902 36394_at 182
D87442 Cluster Incl. D87442:Human mRNA for KIAA0253 gene, partial cds /cds=(0,2127) /gb=D87442 /gi=1665772 /ug=Hs.4788 /len=2805 34835_at 182





Descriptions




External Ids


APH2 1, 2

anterior pharynx-defective 2 2

HGNC: 170911

ATAG1874 2

Entrez Gene: 233852


KIAA0253 1, 2, 3

UniProtKB: Q925423

OTTHUMP00000031839 2

Ensembl: ENSG000001627367

nicastrin 2



Search outside databases for aliases for NCSTN gene

Previous GC identifers: GC01P158105 GC01P156045 GC01P157090 GC01P157529 GC01P157126

Summaries
for NCSTN

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Jump to Section... Aliases Databases Disorders Domains/Families Drugs/Compounds Expression Function Location Medical News Orthologs Paralogs Pathways/Interactions Proteins Publications SNPs Search Box Services Summaries Technologies Transcripts TOP BOTTOM

EntrezGene summary for NCSTN:

This gene encodes a Type I transmembrane glycoprotein that is an integral component of the
multimeric gamma-secretase complex. The encoded protein cleaves integral membrane proteins,
including Notch receptors and beta-amyloid precursor protein, and may be a stabilizing cofactor
required for gamma-secretase complex assembly. The cleavage of beta-amyloid precursor protein
yields amyloid beta peptide, the main component of the neuritic plaque and the hallmark lesion in
the brains of patients with Alzheimer's disease; however, the nature of the encoded
protein's role in Alzheimer's disease is not known for certain. Alternatively spliced
transcript variants have been described, but their full-length nature has not been determined.
[provided by RefSeq]
UniProtKB/Swiss-Prot: NICA_HUMAN, Q92542
Function: Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes
the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP
(beta-amyloid precursor protein). It probably represents a stabilizing cofactor required for the
assembly of the gamma-secretase complex

Gene Wiki entry for NCSTN (Nicastrin)


00182.25000 00000.12500
00182.50000 00000.25000 !
L14754 Cluster Incl. L14754:Human DNA-binding protein (SMBP2) mRNA, complete cds /cds=(49,3030) /gb=L14754 /gi=401775 /ug=Hs.1521 /len=3892 31861_at 182.5

Aliases




Descriptions




External Ids


CATF1 1, 2, 5

ATP-dependent helicase IGHMBP2 3

HGNC: 55421

EC 3.6.1.- 3

Entrez Gene: 35082

Glial factor 1 3

FLJ34220 2

UniProtKB: P389353

Immunoglobulin mu-binding protein 2 3

FLJ41171 2

Ensembl: ENSG000001327407

GF-1 3

cardiac transcription factor 1 2


HCSA 1, 2

immunoglobulin mu binding protein 2 2

HMN6 1, 2, 5

SMARD1 1, 2, 5


SMBP2 3

SMUBP2 1, 2, 3, 5


Search outside databases for aliases for IGHMBP2 gene

Previous GC identifers: GC11P071194 GC11P070367 GC11P068921 GC11P068446

Summaries
for IGHMBP2

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Jump to Section... Aliases Databases Disorders Domains/Families Drugs/Compounds Expression Function Location Medical News Orthologs Paralogs Pathways/Interactions Proteins Publications SNPs Search Box Services Summaries Technologies Transcripts TOP BOTTOM

EntrezGene summary for IGHMBP2:

This gene encodes a helicase superfamily member that binds a specific DNA sequence from the
immunoglobulin mu chain switch region. Mutations in this gene lead to spinal muscle atrophy with
respiratory distress type 1. [provided by RefSeq]
UniProtKB/Swiss-Prot: SMBP2_HUMAN, P38935
Function: Acts as a transcription regulator. Required for the transcriptional activation of the
flounder liver-type antifreeze protein gene. Exhibited strong binding specificity to the enhancer
element B of the flounder antifreeze protein gene intron. Binds to the insulin II gene RIPE3B
enhancer region (By similarity). DNA-binding protein specific to 5'-phosphorylated single-stranded
guanine-rich sequence related to the immunoglobulin mu chain switch region. Preferentially binds
to the 5'-GGGCT-3' motif. Stimulates the transcription of the human neurotropic virus JCV

Gene Wiki entry for IGHMBP2


00182.75000 00000.25000 !
AB029023 Cluster Incl. AB029023:Homo sapiens mRNA for KIAA1100 protein, complete cds /cds=(410,1708) /gb=AB029023 /gi=5689536 /ug=Hs.179946 /len=4023 41179_at 182.8

Aliases




Descriptions




External Ids


KIAA1100 1, 2, 3

ring finger protein 44 2

HGNC: 191801

Entrez Gene: 228382



UniProtKB: Q7L0R73

Ensembl: ENSG000001460837


Search outside databases for aliases for RNF44 gene

Previous GC identifers: GC00U991271 GC05M175889 GC05M175934

Summaries
for RNF44

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Jump to Section... Aliases Databases Disorders Domains/Families Drugs/Compounds Expression Function Location Medical News Orthologs Paralogs Pathways/Interactions Proteins Publications SNPs Search Box Services Summaries Technologies Transcripts TOP BOTTOM

EntrezGene summary for RNF44:

The protein encoded by this gene contains a RING finger, a motif present in a variety of
functionally distinct proteins and known to be involved in protein-protein and protein-DNA
interactions. [provided by RefSeq]

X55503 Cluster Incl. X55503:H.sapiens pseudogene for metallothionein and AG/CT repetitive element /cds=(0,157) /gb=X55503 /gi=38328 /ug=Hs.194762 /len=503 31975_at 182.8

Aliases




Descriptions




External Ids


MT-4 3

metallothionein 4 2

HGNC: 187051

MT-IV 3

Entrez Gene: 845602

metallothionein IV 1, 2

MTIV 1, 2, 5

UniProtKB: P479443

Metallothionein-IV 3

Ensembl: ENSG000001028917




Search outside databases for aliases for MT4 gene

Previous GC identifers: GC16P046982 GC16P056650 GC16P056333 GC16P056374

Summaries
for MT4

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Jump to Section... Aliases Databases Disorders Domains/Families Drugs/Compounds Expression Function Location Medical News Orthologs Paralogs Pathways/Interactions Proteins Publications SNPs Search Box Services Summaries Technologies Transcripts TOP BOTTOM

UniProtKB/Swiss-Prot: MT4_HUMAN, P47944

Function: Seems to bind zinc and copper. Could play a special role in regulating zinc metabolism
during the differentiation of stratified epithelia

D87438 Cluster Incl. D87438:Human mRNA for KIAA0251 gene, partial cds /cds=(0,2463) /gb=D87438 /gi=2055294 /ug=Hs.170218 /len=3875 40765_at 182.8
AF015926 Cluster Incl. AF015926:Homo sapiens ezrin-radixin-moesin binding phosphoprotein-50 mRNA, complete cds /cds=(212,1288) /gb=AF015926 /gi=3220018 /ug=Hs.184276 /len=1984 32174_at 182.8
00183.00000 00000.25000 !
AL022314 Cluster Incl. AL022314:dJ1170K4.2 (novel Trypsin family protein with class A LDL receptor domains) /cds=(0,853) /gb=AL022314 /gi=4090209 /ug=Hs.194750 /len=1463 34067_at 182.9

Aliases




Descriptions




External Ids


EC 3.4.21.- 3

membrane-bound mosaic serine proteinase matriptase-2 2

HGNC: 165171

FLJ30744 1

Entrez Gene: 1646562

transmembrane protease, serine 6 2

IRIDA 2, 5

UniProtKB: Q8IU803

transmembrane serine protease 6 2

Matriptase-2 3

Ensembl: ENSG000001870457

type II transmembrane serine protease 6 2

OTTHUMP00000028798 2




Search outside databases for aliases for TMPRSS6 gene

Previous GC identifers: GC22M034080 GC22P035703 GC22M035705 GC22M035706

Summaries
for TMPRSS6

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Jump to Section... Aliases Databases Disorders Domains/Families Drugs/Compounds Expression Function Location Medical News Orthologs Paralogs Pathways/Interactions Proteins Publications SNPs Search Box Services Summaries Technologies Transcripts TOP BOTTOM

EntrezGene summary for TMPRSS6:

The protein encoded by this gene is a type II transmembrane serine proteinase that is found
attached to the cell surface. The encoded protein may be involved in matrix remodeling processes
in the liver. [provided by RefSeq]
UniProtKB/Swiss-Prot: TMPS6_HUMAN, Q8IU80
Function: Serine protease which hydrolyzes a range of proteins including type I collagen,
fibronectin and fibrinogen. Can also activate urokinase-type plasminogen activator with low
efficiency. May play a specialized role in matrix remodeling processes in liver. Required to sense
iron deficiency. Overexpression suppresses activation of the HAMP promoter

Gene Wiki entry for TMPRSS6


00183.12500 00000.12500
00183.25000 00000.12500
00183.37500 00000.12500
00183.62500 00000.25000 !
U01147 Cluster Incl. U01147:Human guanine nucleotide regulatory protein (ABR) mRNA, complete cds /cds=(110,2689) /gb=U01147 /gi=393094 /ug=Hs.118021 /len=5242 39058_at 183.6

Aliases




Descriptions




External Ids


FLJ45954 2

active BCR-related gene 2

HGNC: 811

active breakpoint cluster region-related protein 2

Entrez Gene: 292

MDB 1, 2

UniProtKB: Q129793



Ensembl: ENSG000001598427


Search outside databases for aliases for ABR gene

Previous GC identifers: GC17M001004 GC17M001165 GC17M000861 GC17M000891

Summaries
for ABR

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Jump to Section... Aliases Databases Disorders Domains/Families Drugs/Compounds Expression Function Location Medical News Orthologs Paralogs Pathways/Interactions Proteins Publications SNPs Search Box Services Summaries Technologies Transcripts TOP BOTTOM

EntrezGene summary for ABR:

This gene encodes a protein that is similar to the protein encoded by the breakpoint cluster region
gene located on chromosome 22. The protein encoded by this gene contains a GTPase-activating
protein domain, a domain found in members of the Rho family of GTP-binding proteins. Functional
studies in mice determined that this protein plays a role in vestibular morphogenesis, suggesting
that Rho-related GTPases help coordinate motor skills and balance. Alternatively spliced
transcript variants that encode different isoforms have been reported for this gene. [provided by
RefSeq]
UniProtKB/Swiss-Prot: ABR_HUMAN, Q12979
Function: GTPase-activating protein for RAC and CDC42. Promotes the exchange of RAC or CDC42-bound
GDP by GTP, thereby activating them

00183.75000 00000.12500
00183.87500 00000.12500
00184.12500 00000.25000 !
Y08387 Cluster Incl. Y08387:H.sapiens mRNA for mu-ARP2 protein /cds=(54,1415) /gb=Y08387 /gi=1929346 /ug=Hs.194703 /len=1713 33732_at 184

Aliases




Descriptions




External Ids


MU-4 1, 2

AP-4 adapter complex mu subunit 2, 3

HGNC: 5741

MU-ARP2 1, 2

Adapter-related protein complex 4 mu-1 subunit 3

Entrez Gene: 91792

UniProtKB: O001893

Mu subunit of AP-4 2, 3

MUARP2 3

Ensembl: ENSG000002218387

Mu-adaptin-related protein 2 3

Mu4-adaptin 3

adaptor-related protein complex 4, mu 1 subunit 2


mu-ARP2 3

adaptor-related protein complex AP-4 mu4 subunit 2

mu4 3


mu-adaptin-related protein-2 2


Search outside databases for aliases for AP4M1 gene

Previous GC identifers: GC07P098233 GC07P099296 GC07P099310 GC07P099343

Summaries
for AP4M1

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Jump to Section... Aliases Databases Disorders Domains/Families Drugs/Compounds Expression Function Location Medical News Orthologs Paralogs Pathways/Interactions Proteins Publications SNPs Search Box Services Summaries Technologies Transcripts TOP BOTTOM

EntrezGene summary for AP4M1:

This gene encodes a subunit of the heterotetrameric AP-4 complex. The encoded protein belongs to
the adaptor complexes medium subunits family. This AP-4 complex is involved in the recognition and
sorting of cargo proteins with tyrosine-based motifs from the trans-golgi network to the
endosomal-lysosomal system. [provided by RefSeq]
UniProtKB/Swiss-Prot: AP4M1_HUMAN, O00189
Function: Subunit of novel type of clathrin- or non-clathrin-associated protein coat involved in
targeting proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system

Gene Wiki entry for AP4M1


00184.25000 00000.12500
00184.62500 00000.37500 !
L25081 L25081 /FEATURE= /DEFINITION=HUMRHOCA Homo sapiens GTPase (rhoC) mRNA, complete cds 1395_at 184.6
M36341 Cluster Incl. M36341:Human ADP-ribosylation factor 4 (ARF4) mRNA, complete cds /cds=(129,671) /gb=M36341 /gi=178984 /ug=Hs.75290 /len=1513 36585_at 184.6

Aliases




Descriptions




External Ids


ARF2 2, 3, 5

ADP-ribosylation factor 2 1, 2

HGNC: 6551

Entrez Gene: 3782

ADP-ribosylation factor 4 2


UniProtKB: P180853

Ensembl: ENSG000001683747



Search outside databases for aliases for ARF4 gene

Previous GC identifers: GC03M056428 GC03M056911 GC03M057411 GC03M057514 GC03M057507

Summaries
for ARF4

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Jump to Section... Aliases Databases Disorders Domains/Families Drugs/Compounds Expression Function Location Medical News Orthologs Paralogs Pathways/Interactions Proteins Publications SNPs Search Box Services Summaries Technologies Transcripts TOP BOTTOM

EntrezGene summary for ARF4:

This gene is a member of the human ARF gene family whose members encode small guanine
nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin
and play a role in vesicular trafficking and as activators of phospholipase D. The gene products
include 5 ARF proteins and 11 ARF-like proteins and constitute one family of the RAS superfamily.
The ARF proteins are categorized as class I, class II and class III; this gene is a class II
member. The members of each class share a common gene organization. The ARF4 gene spans
approximately 12kb and contains six exons and five introns. This gene is the most divergent member
of the human ARFs. Conflicting map positions at 3p14 or 3p21 have been reported for this gene.
[provided by RefSeq]
UniProtKB/Swiss-Prot: ARF4_HUMAN, P18085
Function: GTP-binding protein that functions as an allosteric activator of the cholera toxin
catalytic subunit, an ADP-ribosyltransferase. Involved in protein trafficking; may modulate
vesicle budding and uncoating within the Golgi apparatus

Gene Wiki entry for ARF4


AB006202 Cluster Incl. AB006202:Homo sapiens mRNA for cytochrome b small subunit of complex II, complete cds /cds=(11,490) /gb=AB006202 /gi=2351036 /ug=Hs.168289 /len=1313 40467_at 184.6

Aliases

Descriptions

External Ids

CBT1 2

Succinate dehydrogenase complex subunit D 3

HGNC: 106831

Succinate-ubiquinone oxidoreductase cytochrome b small
subunit 3

Entrez Gene: 63922

CII-4 3

UniProtKB: O145213

CybS 3

Ensembl: ENSG000002043707

PGL 2

Succinate-ubiquinone reductase membrane anchor subunit 3

PGL1 2, 5

succinate dehydrogenase complex, subunit D 2

QPs3 3

succinate dehydrogenase complex, subunit D, integral
membrane protein 2

SDH4 2, 3

succinate dehydrogenase ubiquinone cytochrome B small
subunit 2

Search outside databases for aliases for SDHD gene

Previous GC identifers: GC11P114310 GC11P113469 GC11P111991 GC11P111495

Summaries
for SDHD

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Jump to Section... Aliases Databases Disorders Domains/Families Drugs/Compounds Expression Function Location Medical News Orthologs Paralogs Pathways/Interactions Proteins Publications SNPs Search Box Services Summaries Technologies Transcripts TOP BOTTOM

EntrezGene summary for SDHD:

Complex II of the respiratory chain, which is specifically involved in the oxidation of succinate,
carries electrons from FADH to CoQ. The complex is composed of four nuclear-encoded subunits and
is localized in the mitochondrial inner membrane. The subunit D protein is one of two integral
membrane proteins anchoring the complex to the matrix side of the membrane. Mutations in SDHD have
been linked to hereditary paraganglioma. [provided by RefSeq]
UniProtKB/Swiss-Prot: DHSD_HUMAN, O14521
Function: Membrane-anchoring subunit of succinate dehydrogenase (SDH) that is involved in complex
II of the mitochondrial electron transport chain and is responsible for transferring electrons
from succinate to ubiquinone (coenzyme Q) (By similarity)

00184.75000 00000.12500
00185.00000 00000.25000 !
AA932443 Cluster Incl. AA932443:oo75b11.s1 Homo sapiens cDNA, 3 end /clone=IMAGE-1571997 /clone_end=3 /gb=AA932443 /gi=3087224 /ug=Hs.118556 /len=475 41624_r_at 185
00185.12500 00000.12500
00185.37500 00000.25000 !
00185.50000 00000.12500 !
00185.62500 00000.12500
00185.87500 00000.25000 !
AA932443 Cluster Incl. AA932443:oo75b11.s1 Homo sapiens cDNA, 3 end /clone=IMAGE-1571997 /clone_end=3 /gb=AA932443 /gi=3087224 /ug=Hs.118556 /len=475 41624_r_at 185

Aliases




Descriptions




External Ids


CDC20C 1, 2

CDC20-like 1b 2

HGNC: 248241

CDH1 1, 2, 3

CDC20-like protein 1 3

Entrez Gene: 513432

FYR 3

Cdh1/Hct1 homolog 3

UniProtKB: Q9UM113

FZR 1, 2, 3

Fzr1 protein 2

Ensembl: ENSG000001053257

FZR2 1, 2

fizzy-related protein 2


Fzr 3

fizzy/cell division cycle 20 related 1 (Drosophila) 2

HCDH 1, 2


HCDH1 1, 2

KIAA1242 1, 2, 3

hCDH1 3


Search outside databases for aliases for FZR1 gene

Previous GC identifers: GC19P003598 GC19P003446 GC19P003457

Summaries
for FZR1

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Jump to Section... Aliases Databases Disorders Domains/Families Drugs/Compounds Expression Function Location Medical News Orthologs Paralogs Pathways/Interactions Proteins Publications SNPs Search Box Services Summaries Technologies Transcripts TOP BOTTOM

UniProtKB/Swiss-Prot: FZR_HUMAN, Q9UM11

Function: Regulates ubiquitin ligase activity of the anaphase promoting complex/cyclosome (APC/C)
and may confer substrate specificity upon the complex. The APC/C-Cdh1 dimeric complex is activated
during anaphase and telophase and remains active in degrading substrates until onset of the next S
phase

Gene Wiki entry for FZR1


M83738 M83738 /FEATURE= /DEFINITION=HUMPTPSA Human protein-tyrosine phosphatase (PTPase MEG2) mRNA, complete cds 1386_at 186

Aliases




Descriptions




External Ids


EC 3.1.3.48 3

Protein-tyrosine phosphatase MEG2 2, 3

HGNC: 96611

MEG2 1, 2

protein tyrosine phosphatase, non-receptor type 9 2

Entrez Gene: 57802

PTPMEG2 2

UniProtKB: P433783


PTPase-MEG2 2, 3

Ensembl: ENSG000001694107



Search outside databases for aliases for PTPN9 gene

Previous GC identifers: GC15M071637 GC15M068850 GC15M073335 GC15M073475

Summaries
for PTPN9

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Jump to Section... Aliases Databases Disorders Domains/Families Drugs/Compounds Expression Function Location Medical News Orthologs Paralogs Pathways/Interactions Proteins Publications SNPs Search Box Services Summaries Technologies Transcripts TOP BOTTOM

EntrezGene summary for PTPN9:

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs
are known to be signaling molecules that regulate a variety of cellular processes including cell
growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an
N-terminal domain that shares a significant similarity with yeast SEC14, which is a protein that
has phosphatidylinositol transfer activity and is required for protein secretion through the Golgi
complex in yeast. This PTP was found to be activated by polyphosphoinositide, and is thought to be
involved in signaling events regulating phagocytosis. [provided by RefSeq]
UniProtKB/Swiss-Prot: PTN9_HUMAN, P43378
Function: Protein-tyrosine phosphatase that could participate in the transfer of hydrophobic
ligands or in functions of the Golgi apparatus

Gene Wiki entry for PTPN9


00186.25000 00000.37500 !
AA648295 Cluster Incl. AA648295:ns20e08.s1 Homo sapiens cDNA, 3 end /clone=IMAGE-1184198 /clone_end=3 /gb=AA648295 /gi=2574724 /ug=Hs.8123 /len=723 38084_at 186.3

L05424 L05424 /FEATURE=cds#1 /DEFINITION=HUMSCG19 Human cell surface glycoprotein CD44 (CD44) gene, 3 end of long tailed isoform 1125_s_at 186.3

Aliases




Descriptions




External Ids


CD44R 1

CD44 antigen 2, 3

HGNC: 16811

CDW44 2

CD44 antigen (homing function and Indian blood group
system) 1, 2

Entrez Gene: 9602

CDw44 3

UniProtKB: P160703

CSPG8 1, 2

Ensembl: ENSG000000265087

CD44 molecule (Indian blood group) 2

ECMR-III 2, 3

CDW44 antigen 2


Extracellular matrix receptor III 3

Epican 3

GP90 lymphocyte homing/adhesion receptor 2, 3

HCELL 1, 2

HUTCH-I 3

Heparan sulfate proteoglycan 2, 3

IN 1, 2

Hermes antigen 2, 3

LHR 2, 3

Hyaluronate receptor 2, 3

MC56 1, 2

Phagocytic glycoprotein I 2, 3

MDU2 2, 3, 5

antigen gp90 homing receptor 2

MDU3 2, 3, 5

cell adhesion molecule 2

MGC10468 2

cell surface glycoprotein CD44 2

chondroitin sulfate proteoglycan 8 2

MIC4 2, 3, 5

extracellular matrix receptor-III 2

MUTCH-I 2

hematopoietic cell E- and L-selectin ligand 2

PGP-1 3

homing function and Indian blood group system 2

PGP-I 3

Pgp1 1, 2



Search outside databases for aliases for CD44 gene

Previous GC identifers: GC11P036713 GC11P035838 GC11P035199 GC11P035124 GC11P035125

Summaries
for CD44

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Jump to Section... Aliases Databases Disorders Domains/Families Drugs/Compounds Expression Function Location Medical News Orthologs Paralogs Pathways/Interactions Proteins Publications SNPs Search Box Services Summaries Technologies Transcripts TOP BOTTOM

EntrezGene summary for CD44:

The protein encoded by this gene is a cell-surface glycoprotein involved in cell-cell interactions,
cell adhesion and migration. It is a receptor for hyaluronic acid (HA) and can also interact with
other ligands, such as osteopontin, collagens, and matrix metalloproteinases (MMPs). This protein
participates in a wide variety of cellular functions including lymphocyte activation,
recirculation and homing, hematopoiesis, and tumor metastasis. Transcripts for this gene undergo
complex alternative splicing that results in many functionally distinct isoforms, however, the
full length nature of some of these variants has not been determined. Alternative splicing is the
basis for the structural and functional diversity of this protein, and may be related to tumor
metastasis. [provided by RefSeq]
UniProtKB/Swiss-Prot: CD44_HUMAN, P16070
Function: Receptor for hyaluronic acid (HA). Mediates cell-cell and cell-matrix interactions
through its affinity for HA, and possibly also through its affinity for other ligands such as
osteopontin, collagens, and matrix metalloproteinases (MMPs). Adhesion with HA plays an important
role in cell migration, tumor growth and progression. Also involved in lymphocyte activation,
recirculation and homing, and in hematopoiesis. Altered expression or dysfunction causes numerous
pathogenic phenotypes. Great protein heterogeneity due to numerous alternative splicing and
post-translational modification events

Gene Wiki entry for CD44


U48705 U48705 /FEATURE=mRNA /DEFINITION=HSU48705 Human receptor tyrosine kinase DDR gene, complete cds 1007_s_at 186.3

s




Descriptions




External Ids


CAK 2, 3

CD167 antigen-like family member A 3

HGNC: 27301

CD167 1, 2

CD167a antigen 3

Entrez Gene: 7802

DDR 2

Cell adhesion kinase 2, 3

UniProtKB: Q083453

EC 2.7.10.1 3

Discoidin receptor tyrosine kinase 2, 3

Ensembl: ENSG000002045807

EDDR1 2, 3

Epithelial discoidin domain receptor 1 2, 3


HGK2 3

PTK3A protein tyrosine kinase 3A 2

MCK10 2

Protein-tyrosine kinase RTK 6 3

NEP 2, 3

TRK E 3

NTRK4 2, 3

Tyrosine kinase DDR 3

OTTHUMP00000029343 2

Tyrosine-protein kinase CAK 3

OTTHUMP00000029344 2

discoidin domain receptor family, member 1 1, 2

OTTHUMP00000029345 2

discoidin domain receptor tyrosine kinase 1 2

OTTHUMP00000029346 2

mammarian carcinoma kinase 10 2

neuroepithelial tyrosine kinase 2

OTTHUMP00000029347 2

neurotrophic tyrosine kinase, receptor, type 4 2

PTK3 2


PTK3A 2, 3

RTK6 1, 2, 3

TRKE 2, 3


Search outside databases for aliases for DDR1 gene

Previous GC identifers: GC06P030907 GC06P030619 GC06P030959 GC06P030631

Summaries
for DDR1

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Jump to Section... Aliases Databases Disorders Domains/Families Drugs/Compounds Expression Function Location Medical News Orthologs Paralogs Pathways/Interactions Proteins Publications SNPs Search Box Services Summaries Technologies Transcripts TOP BOTTOM

EntrezGene summary for DDR1:

Receptor tyrosine kinases (RTKs) play a key role in the communication of cells with their
microenvironment. These molecules are involved in the regulation of cell growth, differentiation
and metabolism. The protein encoded by this gene is a RTK that is widely expressed in normal and
transformed epithelial cells and is activated by various types of collagen. This protein belongs
to a subfamily of tyrosine kinase receptors with a homology region to the Dictyostelium discoideum
protein discoidin I in their extracellular domain. Its autophosphorylation is achieved by all
collagens so far tested (type I to type VI). In situ studies and Northern-blot analysis showed
that expression of this encoded protein is restricted to epithelial cells, particularly in the
kidney, lung, gastrointestinal tract, and brain. In addition, this protein is significantly
over-expressed in several human tumors from breast, ovarian, esophageal, and pediatric brain. This
gene is located on chromosome 6p21.3 in proximity to several HLA class I genes. Alternative
splicing of this gene results in multiple transcript variants. [provided by RefSeq]
UniProtKB/Swiss-Prot: DDR1_HUMAN, Q08345
Function: May be involved in cell-cell interactions and recognition

Gene Wiki entry for DDR1


00186.37500 00000.12500
00186.75000 00000.37500 !
L08666 Cluster Incl. L08666:Homo sapiens porin (por) mRNA, complete cds and truncated cds /cds=UNKNOWN /gb=L08666 /gi=190199 /ug=Hs.78902 /len=1464 37697_s_at 186.6

Aliases




Descriptions




External Ids


FLJ23841 2

Outer mitochondrial membrane protein porin 2 3

HGNC: 126721

OTTHUMP00000019876 2

Entrez Gene: 74172

voltage-dependent anion channel 2 2

UniProtKB: P458803

VDAC-2 3


Ensembl: ENSG000001656377

hVDAC2 3



Search outside databases for aliases for VDAC2 gene

Previous GC identifers: GC10P075924 GC10P076073 GC10P076863 GC10P076315 GC10P076276

Summaries
for VDAC2

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Jump to Section... Aliases Databases Disorders Domains/Families Drugs/Compounds Expression Function Location Medical News Orthologs Paralogs Pathways/Interactions Proteins Publications SNPs Search Box Services Summaries Technologies Transcripts TOP BOTTOM

UniProtKB/Swiss-Prot: VDAC2_HUMAN, P45880

Function: Forms a channel through the mitochondrial outer membrane that allows diffusion of small
hydrophilic molecules. The channel adopts an open conformation at low or zero membrane potential
and a closed conformation at potentials above 30-40 mV. The open state has a weak anion
selectivity whereas the closed state is cation-selective

X71129 Cluster Incl. X71129:H.sapiens mRNA for electron transfer flavoprotein beta subunit /cds=(27,794) /gb=X71129 /gi=297901 /ug=Hs.74047 /len=835 36881_at 186.6

Aliases




Descriptions




External Ids


Beta-ETF 3

electron transfer flavoprotein beta subunit 2

HGNC: 34821

Entrez Gene: 21092

FP585 2

electron transfer flavoprotein beta-subunit 2

UniProtKB: P381173

MADD 2, 5

Ensembl: ENSG000001053797

electron transfer flavoprotein, beta polypeptide 2



electron-transfer-flavoprotein, beta polypeptide 2

electron-transferring-flavoprotein, beta polypeptide 2


Search outside databases for aliases for ETFB gene

Previous GC identifers: GC19M052478 GC19M052209 GC19M056524

Summaries
for ETFB

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Jump to Section... Aliases Databases Disorders Domains/Families Drugs/Compounds Expression Function Location Medical News Orthologs Paralogs Pathways/Interactions Proteins Publications SNPs Search Box Services Summaries Technologies Transcripts TOP BOTTOM

EntrezGene summary for ETFB:

This gene encodes electron-transfer-flavoprotein, beta polypeptide, which shuttles electrons
between primary flavoprotein dehydrogenases involved in mitochondrial fatty acid and amino acid
catabolism and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. The
gene deficiencies have been implicated in type II glutaricaciduria. Alternatively spliced
transcript variants have been found for this gene. [provided by RefSeq]
UniProtKB/Swiss-Prot: ETFB_HUMAN, P38117
Function: The electron transfer flavoprotein serves as a specific electron acceptor for several
dehydrogenases, including five acyl-CoA dehydrogenases, glutaryl-CoA and sarcosine dehydrogenase.
It transfers the electrons to the main mitochondrial respiratory chain via ETF-ubiquinone
oxidoreductase (ETF dehydrogenase)

Gene Wiki entry for ETFB


U84011 Cluster Incl. U84011:Human glycogen debranching enzyme isoform 6 (AGL) mRNA, alternatively spliced isoform, complete cds /cds=(259,4809) /gb=U84011 /gi=1857627 /ug=Hs.904 /len=7178 38253_at 186.9

Aliases




Descriptions




External Ids


GDE 2, 3, 5

Glycogen debrancher 3

HGNC: 3211

OTTHUMP00000012500 2

amylo-1, 6-glucosidase, 4-alpha-glucanotransferase 2

Entrez Gene: 1782

UniProtKB: P355733

OTTHUMP00000012501 2

amylo-1,6-glucosidase, 4-alpha-glucanotransferase 2

Ensembl: ENSG000001626887

OTTHUMP00000012502 2

glycogen debranching enzyme 2



OTTHUMP00000012503 2

OTTHUMP00000012504 2

OTTHUMP00000012505 2


Search outside databases for aliases for AGL gene

Previous GC identifers: GC01P101113 GC01P099441 GC01P099606 GC01P099778 GC01P100027

Summaries
for AGL

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Jump to Section... Aliases Databases Disorders Domains/Families Drugs/Compounds Expression Function Location Medical News Orthologs Paralogs Pathways/Interactions Proteins Publications SNPs Search Box Services Summaries Technologies Transcripts TOP BOTTOM

EntrezGene summary for AGL:

This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This
enzyme has two independent catalytic activities which occur at different sites on the protein: a
4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are
associated with glycogen storage disease although a wide range of enzymatic and clinical
variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced
transcripts encoding different isoforms have been described. [provided by RefSeq]
UniProtKB/Swiss-Prot: GDE_HUMAN, P35573
Function: Multifunctional enzyme acting as 1,4-alpha-D-glucan:1,4-alpha-D-glucan
4-alpha-D-glycosyltransferase and amylo-1,6-glucosidase in glycogen degradation

00186.87500 00000.12500
00187.25000 00000.37500 !
AF042081 Cluster Incl. AF042081:Homo sapiens SH3 domain binding glutamic acid-rich-like protein (SH3BGRL) mRNA, complete cds /cds=(78,422) /gb=AF042081 /gi=3337419 /ug=Hs.14368 /len=1737 39714_at 187.2

Aliases




Descriptions




External Ids


MGC117402 1, 2

SH3 domain binding glutamic acid-rich protein like 2

HGNC: 108231

OTTHUMP00000023609 2

Entrez Gene: 64512

SH3-binding domain glutamic acid-rich protein like 2

UniProtKB: O753683

SH3BGR 2

Ensembl: ENSG000001311717




Search outside databases for aliases for SH3BGRL gene

Previous GC identifers: GC0XP076003 GC0XP077419 GC0XP078498 GC0XP079213

Summaries
for SH3BGRL

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Jump to Section... Aliases Databases Disorders Domains/Families Drugs/Compounds Expression Function Location Medical News Orthologs Paralogs Pathways/Interactions Proteins Publications SNPs Search Box Services Summaries Technologies Transcripts TOP BOTTOM

Gene Wiki entry for SH3BGRL


U36764 U36764 /FEATURE= /DEFINITION=HSU36764 Human TGF-beta receptor interacting protein 1 mRNA, complete cds 1644_at 187.3

Aliases




Descriptions




External Ids


EIF3S2 2, 3, 5

Eukaryotic translation initiation factor 3 subunit 2 3

HGNC: 32721

OTTHUMP00000008492 2

Entrez Gene: 86682

TGF-beta receptor-interacting protein 1 2, 3

UniProtKB: Q133473

PRO2242 2

TGFbeta receptor-interacting protein 1 2

Ensembl: ENSG000000846237

TRIP-1 1, 2, 3

eIF3 p36 3

TRIP1 2, 3, 5

eukaryotic translation initiation factor 3, subunit 2
(beta, 36kD) 2


eIF-3-beta 3

eIF3-beta 1, 2

eukaryotic translation initiation factor 3, subunit 2 beta,
36kDa 1, 2

eIF3-p36 1, 2

eIF3i 1, 3

eukaryotic translation initiation factor 3, subunit I 2


predicted protein of HQ2242 2


Search outside databases for aliases for EIF3I gene

Summaries
for EIF3I

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Jump to Section... Aliases Databases Disorders Domains/Families Drugs/Compounds Expression Function Location Medical News Orthologs Paralogs Pathways/Interactions Proteins Publications SNPs Search Box Services Summaries Technologies Transcripts TOP BOTTOM

UniProtKB/Swiss-Prot: EIF3I_HUMAN, Q13347

Function: Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is
required for several steps in the initiation of protein synthesis. The eIF-3 complex associates
with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi
and eIF-5 to form the 43S preinitiation complex (43S PIC). The eIF-3 complex stimulates mRNA
recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also
required for disassembly and recycling of posttermination ribosomal complexes and subsequently
prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation

Gene Wiki entry for EIF3I


00187.37500 00000.12500
00187.50000 00000.12500
00187.62500 00000.12500
00187.87500 00000.25000 !
AI057607 Cluster Incl. AI057607:oy31e07.x1 Homo sapiens cDNA, 3 end /clone=IMAGE-1667460 /clone_end=3 /gb=AI057607 /gi=3331473 /ug=Hs.7731 /len=644 37316_r_at 187.8

Aliases




Descriptions




External Ids


BM036 1, 2

E2F-associated phosphoprotein 2

HGNC: 193121

C14orf11 2, 3

chromosome 14 open reading frame 11 1

Entrez Gene: 558372

UniProtKB: Q56P033


FLJ20578 1, 2

Ensembl: ENSG000001295187

MGC4957 2



Search outside databases for aliases for EAPP gene

Summaries
for EAPP

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Jump to Section... Aliases Databases Disorders Domains/Families Drugs/Compounds Expression Function Location Medical News Orthologs Paralogs Pathways/Interactions Proteins Publications SNPs Search Box Services Summaries Technologies Transcripts TOP BOTTOM

EntrezGene summary for EAPP:

This gene encodes a phosphoprotein that interacts with several members of the E2F family of
proteins. The protein localizes to the nucleus, and is present throughout the cell cycle except
during mitosis. It functions to modulate E2F-regulated transcription and stimulate proliferation.
[provided by RefSeq]
UniProtKB/Swiss-Prot: EAPP_HUMAN, Q56P03
Function: May play an important role in the fine-tuning of both major E2F1 activities, the
regulation of the cell-cycle and the induction of apoptosis. Promotes S-phase entry, and inhibits
p14(ARP) expression

Gene Wiki entry for EAPP


00188.00000 00000.12500
00188.25000 00000.25000 !
M58286 M58286 /FEATURE= /DEFINITION=HUMTNFRB Homo sapiens tumor necrosis factor receptor mRNA, complete cds 1563_s_at 188.3

Aliases




Descriptions




External Ids


CD120a 1, 2

CD120a antigen 3

HGNC: 119161

FPF 2, 5

tumor necrosis factor binding protein 1 2

Entrez Gene: 71322

MGC19588 2

tumor necrosis factor receptor 1 2

UniProtKB: P194383

TBP1 2

tumor necrosis factor receptor superfamily, member 1A 2

Ensembl: ENSG000000671827

TNF-R 1, 2

tumor necrosis factor receptor type 1 2


TNF-R-I 1, 2

tumor necrosis factor-alpha receptor 2

TNF-R1 3


TNF-R55 1, 2

TNF-RI 3

TNFAR 1, 2, 3, 5

TNFR-I 3

TNFR1 2, 3, 5

TNFR55 2

TNFR60 1, 2

p55 2, 3

p55-R 2

p60 2, 3


Search outside databases for aliases for TNFRSF1A gene

Previous GC identifers: GC12M006292 GC12M006412

Summaries
for TNFRSF1A

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Jump to Section... Aliases Databases Disorders Domains/Families Drugs/Compounds Expression Function Location Medical News Orthologs Paralogs Pathways/Interactions Proteins Publications SNPs Search Box Services Summaries Technologies Transcripts TOP BOTTOM

EntrezGene summary for TNFRSF1A:

The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein is one
of the major receptors for the tumor necrosis factor-alpha. This receptor can activate NF-kappaB,
mediate apoptosis, and function as a regulator of inflammation. Antiapoptotic protein
BCL2-associated athanogene 4 (BAG4/SODD) and adaptor proteins TRADD and TRAF2 have been shown to
interact with this receptor, and thus play regulatory roles in the signal transduction mediated by
the receptor. Germline mutations of the extracellular domains of this receptor were found to be
associated with the autosomal dominant periodic fever syndrome. The impaired receptor clearance is
thought to be a mechanism of the disease. [provided by RefSeq]
UniProtKB/Swiss-Prot: TNR1A_HUMAN, P19438
Function: Receptor for TNFSF2/TNF-alpha and homotrimeric TNFSF1/lymphotoxin-alpha. The adapter
molecule FADD recruits caspase-8 to the activated receptor. The resulting death-inducing signaling
complex (DISC) performs caspase-8 proteolytic activation which initiates the subsequent cascade of
caspases (aspartate-specific cysteine proteases) mediating apoptosis. Contributes to the induction
of non-cytocidal TNF effects including anti-viral state and activation of the acid
sphingomyelinase

Gene Wiki entry for TNFRSF1A


Y13247 Cluster Incl. Y13247:Homo sapiens fb19 mRNA /cds=(539,3361) /gb=Y13247 /gi=2117158 /ug=Hs.106019 /len=4506 38672_at 188.3

Aliases




Descriptions




External Ids


CAT53 2, 3

FB19 protein 3

HGNC: 92841

FB19 1, 2, 3

MHC class I region proline-rich protein CAT53 3

Entrez Gene: 55142

PNUTS 1, 2, 3

UniProtKB: Q96QC03

PP1-binding protein of 114 kDa 3

Ensembl: ENSG000002045697

Phosphatase 1 nuclear targeting subunit 3

PP1R10 2

phosphatase nuclear targeting subunit 2


p99 3

protein phosphatase 1 regulatory subunit 10 2


protein phosphatase 1, regulatory (inhibitor) subunit 10 2

protein phosphatase 1, regulatory subunit 10 1, 2


Search outside databases for aliases for PPP1R10 gene

Previous GC identifers: GC06M030623 GC06M030338 GC06M030674

Summaries
for PPP1R10

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Jump to Section... Aliases Databases Disorders Domains/Families Drugs/Compounds Expression Function Location Medical News Orthologs Paralogs Pathways/Interactions Proteins Publications SNPs Search Box Services Summaries Technologies Transcripts TOP BOTTOM

EntrezGene summary for PPP1R10:

This gene encodes a protein with similarity to a rat protein that has an inhibitory effect on
protein phosphatase-1 (PP1). The rat protein localizes to the nucleus and colocalizes with
chromatin at distinct phases during mitosis. This gene lies within the major histocompatibility
complex class I region on chromosome 6. [provided by RefSeq]
UniProtKB/Swiss-Prot: PP1RA_HUMAN, Q96QC0
Function: Inhibitor of PPP1CA and PPP1CC phosphatase activities. Has inhibitory activity on PPP1CA
only when phosphorylated. Binds to mRNA, single-stranded DNA (ssDNA), poly(A) and poly(G)
homopolymers (By similarity)

Gene Wiki entry for PPP1R10


00188.37500 00000.12500
00188.75000 00000.37500 !
X56681 Cluster Incl. X56681:Human junD mRNA /cds=(174,1217) /gb=X56681 /gi=34018 /ug=Hs.2780 /len=1891 41484_r_at 188.8

Aliases




Descriptions




External Ids


AP-1 1, 2

JunD-FL isoform 2

HGNC: 62061

activator protein 1 2

Entrez Gene: 37272


jun D proto-oncogene 2

UniProtKB: P175353

Ensembl: ENSG000001305227

transcription factor jun-D 2



Search outside databases for aliases for JUND gene

Previous GC identifers: GC19M018884 GC19M018782 GC19M018235 GC19M018252 GC19M018253

Summaries
for JUND

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Jump to Section... Aliases Databases Disorders Domains/Families Drugs/Compounds Expression Function Location Medical News Orthologs Paralogs Pathways/Interactions Proteins Publications SNPs Search Box Services Summaries Technologies Transcripts TOP BOTTOM

EntrezGene summary for JUND:

The protein encoded by this intronless gene is a member of the JUN family, and a functional
component of the AP1 transcription factor complex. It has been proposed to protect cells from
p53-dependent senescence and apoptosis. Alternate translation initiation site usage results in the
production of different isoforms. [provided by RefSeq]
UniProtKB/Swiss-Prot: JUND_HUMAN, P17535
Function: Binds an AP-1 site and upon cotransfection stimulates the activity of a promoter that
bears an AP-1 site

Gene Wiki entry for JUND (JunD)


00188.87500 00000.12500
00189.25000 00000.37500 !
L13738 Cluster Incl. L13738:Human activated p21cdc42Hs kinase (ack) mRNA, complete cds /cds=(450,3725) /gb=L13738 /gi=307304 /ug=Hs.153937 /len=4545 40235_at 189.2

Aliases




Descriptions




External Ids


ACK 1, 2

Tyrosine kinase non-receptor protein 2 3

HGNC: 192971

ACK-1 3

Entrez Gene: 101882

activated Cdc42-associated kinase 1 2

ACK1 1, 2, 3

UniProtKB: Q079123

EC 2.7.10.2 3

Ensembl: ENSG000000619387

activated p21cdc42Hs kinase 2

FLJ44758 2

tyrosine kinase, non-receptor, 2 2


FLJ45547 2

p21cdc42Hs 1, 2



Search outside databases for aliases for TNK2 gene

Summaries
for TNK2

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Jump to Section... Aliases Databases Disorders Domains/Families Drugs/Compounds Expression Function Location Medical News Orthologs Paralogs Pathways/Interactions Proteins Publications SNPs Search Box Services Summaries Technologies Transcripts TOP BOTTOM

EntrezGene summary for TNK2:

This gene encodes a tyrosine kinase that binds Cdc42Hs in its GTP-bound form and inhibits both the
intrinsic and GTPase-activating protein (GAP)-stimulated GTPase activity of Cdc42Hs. This binding
is mediated by a unique sequence of 47 amino acids C-terminal to an SH3 domain. The protein may be
involved in a regulatory mechanism that sustains the GTP-bound active form of Cdc42Hs and which is
directly linked to a tyrosine phosphorylation signal transduction pathway. Several alternatively
spliced transcript variants have been identified from this gene, but the full-length nature of
only two transcript variants has been determined. [provided by RefSeq]
UniProtKB/Swiss-Prot: ACK1_HUMAN, Q07912
Function: Downstream effector of CDC42 which mediates CDC42-dependent cell migration via
phosphorylation of BCAR1. Binds to both poly- and mono-ubiquitin and regulates ligand-induced
degradation of EGFR. Participates in clathrin-mediated endocytosis. May be involved both in adult
synaptic function and plasticity and in brain development

Gene Wiki entry for TNK2


00189.37500 00000.12500
00189.50000 00000.12500
00189.75000 00000.25000 !
M92287 M92287 /FEATURE= /DEFINITION=HUMCYCD3A Homo sapiens cyclin D3 (CCND3) mRNA, complete cds 1795_g_at 189.7

Aliases




Descriptions




External Ids


OTTHUMP00000016390 2

D3-type cyclin 2

HGNC: 15851

G1/S-specific cyclin D3 2

Entrez Gene: 8962


UniProtKB: P302813

cyclin D3 2

Ensembl: ENSG000001125767



Search outside databases for aliases for CCND3 gene

Previous GC identifers: GC06M041904 GC06M041949

Summaries
for CCND3

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Jump to Section... Aliases Databases Disorders Domains/Families Drugs/Compounds Expression Function Location Medical News Orthologs Paralogs Pathways/Interactions Proteins Publications SNPs Search Box Services Summaries Technologies Transcripts TOP BOTTOM

EntrezGene summary for CCND3:

The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are
characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins
function as regulators of CDK kinases. Different cyclins exhibit distinct expression and
degradation patterns which contribute to the temporal coordination of each mitotic event. This
cyclin forms a complex with and functions as a regulatory subunit of CDK4 or CDK6, whose activtiy
is required for cell cycle G1/S transition. This protein has been shown to interact with and be
involved in the phosphorylation of tumor suppressor protein Rb. The CDK4 activity associated with
this cyclin was reported to be necessary for cell cycle progression through G2 phase into mitosis
after UV radiation. Several transcript variants encoding different isoforms have been found for
this gene. [provided by RefSeq]
UniProtKB/Swiss-Prot: CCND3_HUMAN, P30281
Function: Essential for the control of the cell cycle at the G1/S (start) transition. Potentiates
the transcriptional activity of ATF5

Gene Wiki entry for CCND3 (Cyclin_D3)


00190.12500 00000.37500 !
AB002332 Cluster Incl. AB002332:Human mRNA for KIAA0334 gene, complete cds /cds=(251,2791) /gb=AB002332 /gi=2224608 /ug=Hs.50722 /len=5715 36080_at 190.1

Aliases




Descriptions




External Ids


EC 2.3.1.48 3

circadian locomoter output cycles kaput protein 2

HGNC: 20821

KAT13D 1, 2

Entrez Gene: 95752

clock (mouse) homolog 1

KIAA0334 1, 2, 3

UniProtKB: O155163

clock homolog (mouse) 2

OTTHUMP00000128334 2

Ensembl: ENSG000001348527


bHLHe8 1, 2


clock 2

hCLOCK 3


Search outside databases for aliases for CLOCK gene

Previous GC identifers: GC04M056102 GC04M056260 GC04M056214 GC04M056139

Summaries
for CLOCK

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Jump to Section... Aliases Databases Disorders Domains/Families Drugs/Compounds Expression Function Location Medical News Orthologs Paralogs Pathways/Interactions Proteins Publications SNPs Search Box Services Summaries Technologies Transcripts TOP BOTTOM

EntrezGene summary for CLOCK:

This gene encodes a protein that belongs to the basic helix-loop-helix (bHLH) family of
transcription factors. Polymorphisms within the encoded protein have been associated with
circadian rhythm sleep disorders. A similar protein in mice is a circadian regulator that acts as
a transcription factor and forms a heterodimer with aryl hydrocarbon receptor nuclear
translocator-like to activate transcription of mouse period 1. [provided by RefSeq]
UniProtKB/Swiss-Prot: CLOCK_HUMAN, O15516
Function: ARNTL/2-CLOCK heterodimers activate E-box element (3'-CACGTG-5') transcription of a
number of proteins of the circadian clock. Activates transcription of PER1 and PER2. This
transcription is inhibited in a feedback loop by PER and CRY proteins. Has intrinsic histone
acetyltransferase activity and this enzymatic function contributes to chromatin-remodeling events
implicated in circadian control of gene expression (By similarity). Acetylates primarily histones
H3 and H4 (By similarity). Acetylates also a non-histone substrate: ARNTL (By similarity)

Gene Wiki entry for CLOCK


00190.25000 00000.12500
00190.50000 00000.25000 !
Z84718 Z84718 /FEATURE=cds#5 /DEFINITION=HS322B1 Human DNA sequence from clone 322B1 on chromosome 22q11-12, complete sequence [Homo sapiens] 374_f_at 190.4
AF022375 Cluster Incl. AF022375:Homo sapiens vascular endothelial growth factor mRNA, complete cds /cds=(701,1276) /gb=AF022375 /gi=3719220 /ug=Hs.73793 /len=3154 36100_at 190.6

Aliases




Descriptions




External Ids


MGC70609 2

Vascular permeability factor 2, 3

HGNC: 126801

MVCD1 2

vascular endothelial growth factor 1

Entrez Gene: 74222

VEGF 2, 3

vascular endothelial growth factor A 2

UniProtKB: P156923

VEGF-A 1, 2, 3

vascular endothelial growth factor isoform VEGF165 2

Ensembl: ENSG000001127157

VPF 1, 2, 3




Search outside databases for aliases for VEGFA gene

Summaries
for VEGFA

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Jump to Section... Aliases Databases Disorders Domains/Families Drugs/Compounds Expression Function Location Medical News Orthologs Paralogs Pathways/Interactions Proteins Publications SNPs Search Box Services Summaries Technologies Transcripts TOP BOTTOM

EntrezGene summary for VEGFA:

This gene is a member of the PDGF/VEGF growth factor family and encodes a protein that is often
found as a disulfide linked homodimer. This protein is a glycosylated mitogen that specifically
acts on endothelial cells and has various effects, including mediating increased vascular
permeability, inducing angiogenesis, vasculogenesis and endothelial cell growth, promoting cell
migration, and inhibiting apoptosis. Elevated levels of this protein is linked to POEMS syndrome,
also known as Crow-Fukase syndrome. Mutations in this gene have been associated with proliferative
and nonproliferative diabetic retinopathy. Alternatively spliced transcript variants, encoding
either freely secreted or cell-associated isoforms, have been characterized. There is also
evidence for the use of non-AUG (CUG) translation initiation sites upstream of, and in-frame with
the first AUG, leading to additional isoforms. [provided by RefSeq]
UniProtKB/Swiss-Prot: VEGFA_HUMAN, P15692
Function: Growth factor active in angiogenesis, vasculogenesis and endothelial cell growth. Induces
endothelial cell proliferation, promotes cell migration, inhibits apoptosis, and induces
permeabilization of blood vessels. Binds to the VEGFR1/Flt-1 and VEGFR2/Kdr receptors, heparan
sulfate and heparin. Neuropilin-1 binds isoforms VEGF-165 and VEGF-145. Isoform VEGF165B binds to
VEGFR2/Kdr but doesn't activate downstream signaling pathways, doesn't activate angiogenesis and
inhibits tumor growth

Gene Wiki entry for VEGFA (Vascular_endothelial_growth_factor_A)


00190.62500 00000.12500
00190.75000 00000.12500
00190.87500 00000.12500
00191.12500 00000.25000 !
U64520 Cluster Incl. U64520:Human synaptobrevin-3 mRNA, complete cds /cds=(24,326) /gb=U64520 /gi=1480967 /ug=Hs.66708 /len=693 35784_at 191.1

Aliases




Descriptions




External Ids


CEB 1, 2, 3

vesicle-associated membrane protein 3 2

HGNC: 126441

Cellubrevin 3

vesicle-associated membrane protein 3 (cellubrevin) 2

Entrez Gene: 93412

OTTHUMP00000001361 2

UniProtKB: Q158363


Ensembl: ENSG000000492457

SYB3 3

Synaptobrevin-3 3


VAMP-3 3

cellubrevin 2

synaptobrevin-3 2


Search outside databases for aliases for VAMP3 gene

Previous GC identifers: GC01P007413 GC01P007640 GC01P007540

Summaries
for VAMP3

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Jump to Section... Aliases Databases Disorders Domains/Families Drugs/Compounds Expression Function Location Medical News Orthologs Paralogs Pathways/Interactions Proteins Publications SNPs Search Box Services Summaries Technologies Transcripts TOP BOTTOM

EntrezGene summary for VAMP3:

Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein are the main
components of a protein complex involved in the docking and/or fusion of synaptic vesicles with
the presynaptic membrane. This gene is a member of the vesicle-associated membrane protein
(VAMP)/synaptobrevin family. Because of its high homology to other known VAMPs, its broad tissue
distribution, and its subcellular localization, the protein encoded by this gene was shown to be
the human equivalent of the rodent cellubrevin. In platelets the protein resides on a compartment
that is not mobilized to the plasma membrane on calcium or thrombin stimulation. [provided by
RefSeq]
UniProtKB/Swiss-Prot: VAMP3_HUMAN, Q15836
Function: Trafficking protein from a constitutively recycling pathway (By similarity)

Gene Wiki entry for VAMP3


Z30643 Cluster Incl. Z30643:H.sapiens mRNA for chloride channel (putative) 2139bp /cds=(22,2085) /gb=Z30643 /gi=521071 /ug=Hs.123123 /len=2139 32988_at 191.1

Aliases




Descriptions




External Ids


CLCK1 2

chloride channel Ka 2, 3

HGNC: 20261

ClC-K1 2, 3

chloride channel, kidney, A 2

Entrez Gene: 11872

MGC61490 2

UniProtKB: P518003


OTTHUMP00000011118 2

Ensembl: ENSG000001865107

OTTHUMP00000011119 2


hClC-Ka 1, 2


Search outside databases for aliases for CLCNKA gene

Previous GC identifers: GC01U990022 GC01P9E0033 GC01P015711 GC01P016094

Summaries
for CLCNKA

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Jump to Section... Aliases Databases Disorders Domains/Families Drugs/Compounds Expression Function Location Medical News Orthologs Paralogs Pathways/Interactions Proteins Publications SNPs Search Box Services Summaries Technologies Transcripts TOP BOTTOM

EntrezGene summary for CLCNKA:

This gene is a member of the CLC family of voltage-gated chloride channels. The encoded protein is
predicted to have 12 transmembrane domains, and requires a beta subunit called barttin to form a
functional channel. It is thought to function in salt reabsorption in the kidney and potassium
recycling in the inner ear. The gene is highly similar to CLCNKB, which is located 10 kb
downstream from this gene. Multiple transcript variants encoding different isoforms have been
found for this gene. [provided by RefSeq]
UniProtKB/Swiss-Prot: CLCKA_HUMAN, P51800
Function: Voltage-gated chloride channel. Chloride channels have several functions including the
regulation of cell volume; membrane potential stabilization, signal transduction and
transepithelial transport. May be important in urinary concentrating mechanisms

Gene Wiki entry for CLCNKA


00191.25000 00000.12500
00191.62500 00000.37500 !
AF022375 Cluster Incl. AF022375:Homo sapiens vascular endothelial growth factor mRNA, complete cds /cds=(701,1276) /gb=AF022375 /gi=3719220 /ug=Hs.73793 /len=3154 36100_at 190.6

Aliases




Descriptions




External Ids


MGC70609 2

Vascular permeability factor 2, 3

HGNC: 126801

MVCD1 2

vascular endothelial growth factor 1

Entrez Gene: 74222

VEGF 2, 3

vascular endothelial growth factor A 2

UniProtKB: P156923

VEGF-A 1, 2, 3

vascular endothelial growth factor isoform VEGF165 2

Ensembl: ENSG000001127157

VPF 1, 2, 3




Search outside databases for aliases for VEGFA gene

Summaries
for VEGFA

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Jump to Section... Aliases Databases Disorders Domains/Families Drugs/Compounds Expression Function Location Medical News Orthologs Paralogs Pathways/Interactions Proteins Publications SNPs Search Box Services Summaries Technologies Transcripts TOP BOTTOM

EntrezGene summary for VEGFA:

This gene is a member of the PDGF/VEGF growth factor family and encodes a protein that is often
found as a disulfide linked homodimer. This protein is a glycosylated mitogen that specifically
acts on endothelial cells and has various effects, including mediating increased vascular
permeability, inducing angiogenesis, vasculogenesis and endothelial cell growth, promoting cell
migration, and inhibiting apoptosis. Elevated levels of this protein is linked to POEMS syndrome,
also known as Crow-Fukase syndrome. Mutations in this gene have been associated with proliferative
and nonproliferative diabetic retinopathy. Alternatively spliced transcript variants, encoding
either freely secreted or cell-associated isoforms, have been characterized. There is also
evidence for the use of non-AUG (CUG) translation initiation sites upstream of, and in-frame with
the first AUG, leading to additional isoforms. [provided by RefSeq]
UniProtKB/Swiss-Prot: VEGFA_HUMAN, P15692
Function: Growth factor active in angiogenesis, vasculogenesis and endothelial cell growth. Induces
endothelial cell proliferation, promotes cell migration, inhibits apoptosis, and induces
permeabilization of blood vessels. Binds to the VEGFR1/Flt-1 and VEGFR2/Kdr receptors, heparan
sulfate and heparin. Neuropilin-1 binds isoforms VEGF-165 and VEGF-145. Isoform VEGF165B binds to
VEGFR2/Kdr but doesn't activate downstream signaling pathways, doesn't activate angiogenesis and
inhibits tumor growth

Gene Wiki entry for VEGFA (Vascular_endothelial_growth_factor_A)


00192.12500 00000.50000 !
S67070 S67070 /FEATURE= /DEFINITION=S67070 heat shock protein HSP72 homolog [human, thyroid associated ophthalmopathy patient, mRNA Partial, 450 nt] 541_g_at 192.1

Aliases




Descriptions




External Ids


HSP27 2

DMPK-binding protein 3

HGNC: 52471

HspB2 3

heat shock 27kD protein 2 1, 2

Entrez Gene: 33162

LOH11CR1K 2

UniProtKB: Q160823

heat shock 27kDa protein 2 2

MGC133245 2

Ensembl: ENSG000001702767

MKBP 1, 2, 3

heat-shock protein beta-2 2




Search outside databases for aliases for HSPB2 gene

Previous GC identifers: GC11P114136 GC11P113295 GC11P111817 GC11P111320 GC11P111321

Summaries
for HSPB2

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Jump to Section... Aliases Databases Disorders Domains/Families Drugs/Compounds Expression Function Location Medical News Orthologs Paralogs Pathways/Interactions Proteins Publications SNPs Search Box Services Summaries Technologies Transcripts TOP BOTTOM

Gene Wiki entry for HSPB2

00192.37500 00000.25000 !
M88163 Cluster Incl. M88163:Human global transcription activator homologous sequence mRNA, complete cds /cds=(141,3071) /gb=M88163 /gi=292495 /ug=Hs.152292 /len=3624 40213_at 192.2

Aliases




Descriptions




External Ids


DKFZp686D1623 2

ATP-dependent helicase SMARCA1 3

HGNC: 110971

EC 3.6.1.- 3

Nucleosome-remodeling factor subunit SNF2L 3

Entrez Gene: 65942

FLJ41547 2

SNF2-like 1 2

UniProtKB: P283703

ISWI 1, 2

SWI/SNF related, matrix associated, actin dependent
regulator of chromatin, subfamily a, member 1 2

Ensembl: ENSG000001020387

NURF140 1, 2


OTTHUMP00000023984 2

SWI/SNF-related matrix-associated actin-dependent regulator
of chromatin a1 2

OTTHUMP00000062565 2

SWI/SNF-related matrix-associated actin-dependent regulator
of chromatin subfamily A member 1 3

SNF2L 2, 3

SNF2L1 2, 3, 5

global transcription activator homologous sequence 2

SNF2LB 1, 2

SWI 1, 2

sucrose nonfermenting 2-like protein 1 2

SWI2 2



Search outside databases for aliases for SMARCA1 gene

Previous GC identifers: GC0XM123226 GC0XM125426 GC0XM126525 GC0XM127286 GC0XM128306

Summaries
for SMARCA1

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Jump to Section... Aliases Databases Disorders Domains/Families Drugs/Compounds Expression Function Location Medical News Orthologs Paralogs Pathways/Interactions Proteins Publications SNPs Search Box Services Summaries Technologies Transcripts TOP BOTTOM

EntrezGene summary for SMARCA1:

This gene encodes a member of the SWI/SNF family of proteins. Members of this family have helicase
and ATPase activities and are thought to regulate transcription of certain genes by altering the
chromatin structure around those genes. Alternatively spliced transcript variants encoding
different isoforms have been found for this gene. [provided by RefSeq]
UniProtKB/Swiss-Prot: SMCA1_HUMAN, P28370
Function: Energy-transducing component of NURF (nucleosome-remodeling factor) and CERF
(CECR2-containing-remodeling factor) complexes. Both complexes facilitate the perturbation of
chromatin structure in an ATP-dependent manner. Potentiates neurite outgrowth. May be involved in
brain development by regulating En-1 and En-2 expression. May be involved in the development of
luteal cells

Gene Wiki entry for SMARCA1


H16917 Cluster Incl. H16917:ym39e02.r1 Homo sapiens cDNA, 5 end /clone=IMAGE-50466 /clone_end=5 /gb=H16917 /gi=883157 /ug=Hs.124699 /len=482 39879_s_at 192.2


00192.50000 00000.12500
00192.62500 00000.12500
00192.75000 00000.12500
00193.00000 00000.25000 !
D88435 Cluster Incl. D88435:Homo sapiens mRNA for HsGAK, complete cds /cds=(0,3935) /gb=D88435 /gi=2506079 /ug=Hs.153227 /len=4331 40225_at 193

Aliases




Descriptions




External Ids


EC 2.7.11.1 3

cyclin G associated kinase 2

HGNC: 41131

Entrez Gene: 25802

FLJ16629 2


UniProtKB: O149763

FLJ40395 2

Ensembl: ENSG000001789507

MGC99654 2



Search outside databases for aliases for GAK gene

Previous GC identifers: GC04M000847 GC04P000873

Summaries
for GAK

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Jump to Section... Aliases Databases Disorders Domains/Families Drugs/Compounds Expression Function Location Medical News Orthologs Paralogs Pathways/Interactions Proteins Publications SNPs Search Box Services Summaries Technologies Transcripts TOP BOTTOM

EntrezGene summary for GAK:

In all eukaryotes, the cell cycle is governed by cyclin-dependent protein kinases (CDKs), whose
activities are regulated by cyclins and CDK inhibitors in a diverse array of mechanisms that
involve the control of phosphorylation and dephosphorylation of Ser, Thr or Tyr residues. Cyclins
are molecules that possess a consensus domain called the 'cyclin box.' In mammalian
cells, 9 cyclin species have been identified, and they are referred to as cyclins A through I.
Cyclin G is a direct transcriptional target of the p53 tumor suppressor gene product and thus
functions downstream of p53. GAK is an association partner of cyclin G and CDK5. [provided by
RefSeq]
UniProtKB/Swiss-Prot: GAK_HUMAN, O14976
Function: Associates with cyclin G and CDK5. Seems to act as an auxilin homolog that is involved in
the uncoating of clathrin-coated vesicles by Hsc70 in non-neuronal cells. Expression oscillates
slightly during the cell cycle, peaking at G1

00193.25000 00000.25000 !
D38305 Cluster Incl. D38305:Human mRNA for Tob, complete cds /cds=(43,1080) /gb=D38305 /gi=1580723 /ug=Hs.178137 /len=1206 40631_at 193.3

Aliases




Descriptions




External Ids


APRO6 2

Transducer of erbB-2 1 3

HGNC: 119791

MGC104792 2

Entrez Gene: 101402

transducer of ERBB2, 1 2

UniProtKB: P506163

MGC34446 2

Ensembl: ENSG000001412327

transducer of erbB-2 2

PIG49 2

TOB 1, 2, 3, 5



TROB 1, 2

TROB1 2, 3


Search outside databases for aliases for TOB1 gene

Previous GC identifers: GC17M048653 GC17M051420 GC17M049281 GC17M049414

Summaries
for TOB1

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Jump to Section... Aliases Databases Disorders Domains/Families Drugs/Compounds Expression Function Location Medical News Orthologs Paralogs Pathways/Interactions Proteins Publications SNPs Search Box Services Summaries Technologies Transcripts TOP BOTTOM

EntrezGene summary for TOB1:

This gene encodes a member of the tob/btg1 family of anti-proliferative proteins that have the
potential to regulate cell growth. When exogenously expressed, this protein supresses cell growth
in tissue culture. The protein undergoes phophorylation by a serine/threonine kinase, 90 kDa
ribosomal S6 kinase. Interactions of this protein with the v-erb-b2 erythroblastic leukemia viral
oncogene homolog 2 gene product p185 interferes with growth suppression. This protein inhibits T
cell proliferation and transcription of cytokines and cyclins. The protein interacts with both
mothers against decapentaplegic Drosophila homolog 2 and 4 to enhance their DNA binding activity.
This interaction inhibits interleukin 2 transcription in T cells. [provided by RefSeq]
UniProtKB/Swiss-Prot: TOB1_HUMAN, P50616
Function: Anti-proliferative protein that interacts with the erbB-2 receptor tyrosine kinase. May
physically and/or functionally interact with protein-tyrosine kinase receptors

Gene Wiki entry for TOB1


00193.62500 00000.37500 !
M69023 Cluster Incl. M69023:Human globin gene /cds=UNKNOWN /gb=M69023 /gi=183127 /ug=Hs.100090 /len=1119 38612_at 193.6

es




Descriptions




External Ids


1700055K04Rik 2

TSPAN-3 1700055K04Rik 2

HGNC: 177521

Tetraspanin TM4-A 2, 3

Entrez Gene: 100992

TM4-A 1, 2

Transmembrane 4 superfamily member 8 1, 2, 3

UniProtKB: O606373

TM4SF8 2, 3

Ensembl: ENSG000001403917

TSPAN-3 1, 2

tetraspan 3 2

Tspan-3 3

tetraspan TM4SF 2



tetraspanin 3 2


Search outside databases for aliases for TSPAN3 gene

Previous GC identifer: GC15M075126

Summaries
for TSPAN3

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Jump to Section... Aliases Databases Disorders Domains/Families Drugs/Compounds Expression Function Location Medical News Orthologs Paralogs Pathways/Interactions Proteins Publications SNPs Search Box Services Summaries Technologies Transcripts TOP BOTTOM

EntrezGene summary for TSPAN3:

The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the
tetraspanin family. Most of these members are cell-surface proteins that are characterized by the
presence of four hydrophobic domains. The proteins mediate signal transduction events that play a
role in the regulation of cell development, activation, growth and motility. The use of alternate
polyadenylation sites has been found for this gene. Two alternative transcripts encoding different
isoforms have been described. [provided by RefSeq]
UniProtKB/Swiss-Prot: TSN3_HUMAN, O60637
Function: Regulates the proliferation and migration of oligodendrocytes, a process essential for
normal myelination and repair (By similarity)

Gene Wiki entry for TSPAN3


00193.75000 00000.12500
00194.25000 00000.50000 !
X59417 Cluster Incl. X59417:H.sapiens PROS-27 mRNA /cds=(62,802) /gb=X59417 /gi=35681 /ug=Hs.74077 /len=964 36122_at 193.9

Aliases




Descriptions




External Ids


EC 3.4.25.1 3

27 kDa prosomal protein 2, 3

HGNC: 95351

IOTA 1, 2

Macropain iota chain 2, 3

Entrez Gene: 56872

MGC22756 1, 2

Multicatalytic endopeptidase complex iota chain 2, 3

UniProtKB: P609003

MGC2333 1, 2

Ensembl: ENSG000001009027

Proteasome iota chain 2, 3

MGC23846 1, 2

macropain subunit iota 2


OTTHUMP00000178843 2

prosomal P27K protein 2

P27K 5

proteasome (prosome, macropain) subunit, alpha type, 6 2

PROS-27 3

proteasome alpha 6 subunit 2

PROS27 1, 2, 3, 5

proteasome subunit iota 2

p27K 1, 2, 3



Search outside databases for aliases for PSMA6 gene

Previous GC identifers: GC14P033139 GC14P029548 GC14P033751

Summaries
for PSMA6

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Jump to Section... Aliases Databases Disorders Domains/Families Drugs/Compounds Expression Function Location Medical News Orthologs Paralogs Pathways/Interactions Proteins Publications SNPs Search Box Services Summaries Technologies Transcripts TOP BOTTOM

EntrezGene summary for PSMA6:

The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core
structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are
composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are
distributed throughout eukaryotic cells at a high concentration and cleave peptides in an
ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified
proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a
member of the peptidase T1A family, that is a 20S core alpha subunit. A pseudogene has been
identified on the Y chromosome. [provided by RefSeq]
UniProtKB/Swiss-Prot: PSA6_HUMAN, P60900
Function: The proteasome is a multicatalytic proteinase complex which is characterized by its
ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at
neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity

Gene Wiki entry for PSMA6


AI800578 Cluster Incl. AI800578:wg12b07.x1 Homo sapiens cDNA, 3 end /clone=IMAGE-2364853 /clone_end=3 /gb=AI800578 /gi=5366138 /ug=Hs.239474 /len=598 34728_g_at 194.5

Aliases




Descriptions




External Ids


DCAL 2, 3

AdoHcyase 2 3

HGNC: 3441

EC 3.3.1.1 3

DC-expressed AHCY-like molecule 3

Entrez Gene: 107682

IRBIT 1, 2

S-adenosyl homocysteine hydrolase homolog 2

UniProtKB: O438653

OTTHUMP00000013376 2

Ensembl: ENSG000001687107

S-adenosyl-L-homocysteine hydrolase 2 3

PRO0233 2

S-adenosylhomocysteine hydrolase-like 1 2


XPVKONA 1, 2, 3

S-adenosylhomocysteine hydrolase-like protein 1 3


dendritic cell expressed AHCY-like protein 2

inositol 1,4,5-trisphosphate receptor-binding protein 2


Search outside databases for aliases for AHCYL1 gene

Previous GC identifers: GC01P110943 GC01P109393 GC01P109629 GC01P109826

Summaries
for AHCYL1

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Jump to Section... Aliases Databases Disorders Domains/Families Drugs/Compounds Expression Function Location Medical News Orthologs Paralogs Pathways/Interactions Proteins Publications SNPs Search Box Services Summaries Technologies Transcripts TOP BOTTOM

Gene Wiki entry for AHCYL1


00194.50000 00000.25000 !
AI800578 Cluster Incl. AI800578:wg12b07.x1 Homo sapiens cDNA, 3 end /clone=IMAGE-2364853 /clone_end=3 /gb=AI800578 /gi=5366138 /ug=Hs.239474 /len=598 34728_g_at 194.5

Aliases




Descriptions




External Ids


DCAL 2, 3

AdoHcyase 2 3

HGNC: 3441

EC 3.3.1.1 3

DC-expressed AHCY-like molecule 3

Entrez Gene: 107682

IRBIT 1, 2

S-adenosyl homocysteine hydrolase homolog 2

UniProtKB: O438653

OTTHUMP00000013376 2

Ensembl: ENSG000001687107

S-adenosyl-L-homocysteine hydrolase 2 3

PRO0233 2

S-adenosylhomocysteine hydrolase-like 1 2


XPVKONA 1, 2, 3

S-adenosylhomocysteine hydrolase-like protein 1 3


dendritic cell expressed AHCY-like protein 2

inositol 1,4,5-trisphosphate receptor-binding protein 2


Search outside databases for aliases for AHCYL1 gene

Previous GC identifers: GC01P110943 GC01P109393 GC01P109629 GC01P109826

Summaries
for AHCYL1

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Jump to Section... Aliases Databases Disorders Domains/Families Drugs/Compounds Expression Function Location Medical News Orthologs Paralogs Pathways/Interactions Proteins Publications SNPs Search Box Services Summaries Technologies Transcripts TOP BOTTOM

Gene Wiki entry for AHCYL1


D00763 D00763 /FEATURE= /DEFINITION=HUMPSC9 Human mRNA for proteasome subunit HC9 1450_g_at 194.5

Aliases




Descriptions




External Ids


EC 3.4.25.1 3

Macropain subunit C9 2, 3

HGNC: 95331

Multicatalytic endopeptidase complex subunit C9 2, 3

Entrez Gene: 56852

HC9 1, 2, 5

UniProtKB: P257893

HsT17706 1, 2

Proteasome