Hs.6856 gnl|UG|Hs#S1367752 Homo sapiens ASH2L gene, complete cds, similar to Drosophila ash2 gene 35804_at 31 P

Aliases ASH2 ^1, 2 ASH2L1 ^2, 3, 5 ASH2L2 ^1, 2, 5 Bre2 ^1, 2 ash2-like ^2

Descriptions ASH2-like protein ^3 ash2 (absent, small, or homeotic)-like (Drosophila) ^2 ash2 (absent, small, or homeotic, Drosophila, homolog)-like ^1

External Ids HGNC: 744^1 Entrez Gene: 9070^2 UniProtKB: Q9UBL3^3 Ensembl: ENSG00000129691^7

Search outside databases for aliases for ASH2L gene

Previous GC identifers: GC08M037436 GC08P038091 GC08P037704 GC08P037980

Summaries
for ASH2L

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UniProtKB/Swiss-Prot: ASH2L_HUMAN, Q9UBL3

Function: Component of the Set1/Ash2 histone methyltransferase (HMT) complex, a complex that

specifically methylates 'Lys-4' of histone H3, but not if the neighboring 'Lys-9' residue is

already methylated. May function as a transcriptional regulator. May play a role in hematopoiesis

Gene Wiki entry for ASH2L

Hs.278857 gnl|UG|Hs#S552484 Human BTK region clone ftp-3 mRNA 41132_r_at 31 P

Aliases FTP-3 ^3 FTP3 ^1, 2, 3 HNRPH' ^1, 2 HNRPH2 ^2, 3 OTTHUMP00000023682 ^2 hnRNPH' ^1, 2

Descriptions Heterogeneous nuclear ribonucleoprotein H' ^3 heterogeneous nuclear ribonucleoprotein H-prime ^2 heterogeneous nuclear ribonucleoprotein H2 ^2 heterogeneous nuclear ribonucleoprotein H2 (H') ^2 hnRNP H' ^3 hnRNP H2 ^3

External Ids HGNC: 5042^1 Entrez Gene: 3188^2 UniProtKB: P55795^3 Ensembl: ENSG00000126945^7

Search outside databases for aliases for HNRNPH2 gene

Previous GC identifer: GC0XP100549

Summaries
for HNRNPH2

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EntrezGene summary for HNRNPH2:

This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear

ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with

heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and

appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While

all of the hnRNPs are present in the nucleus some seem to shuttle between the nucleus and the

cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded

by this gene has three repeats of quasi-RRM domains that binds to RNAs. It is very similar to the

family member HNRPH1. This gene is thought to be involved in Fabray disease and X-linked

agammaglobulinemia phenotype. Alternative splicing results in multiple transcript variants

encoding the same protein. [provided by RefSeq]

UniProtKB/Swiss-Prot: HNRH2_HUMAN, P55795

Function: This protein is a component of the heterogeneous nuclear ribonucleoprotein (hnRNP)

complexes which provide the substrate for the processing events that pre-mRNAs undergo before

becoming functional, translatable mRNAs in the cytoplasm. Binds poly(RG)

Gene Wiki entry for HNRNPH2 (HNRPH2)

Hs.194143 gnl|UG|Hs#S554446 Human BRCA1, Rho7 and vatI genes, complete cds, and ipf35 gene, partial cds 625_at 31 P

Aliases BRCAI ^2 BRCC1 ^1, 2 BROVCA1 ^2, 5 EC 6.3.2.- ^3 IRIS ^2 PSCP ^2, 5 RNF53 ^1, 2, 3

Descriptions BRCA1/BRCA2-containing complex, subunit 1 ^2 RING finger protein 53 ^2, 3 breast and ovarian cancer susceptibility protein 1 ^2 breast cancer 1, early onset ^2

External Ids HGNC: 1100^1 Entrez Gene: 672^2 UniProtKB: P38398^3 Ensembl: ENSG00000012048^7

Search outside databases for aliases for BRCA1 gene

Previous GC identifers: GC17P062255 GC17M043361 GC17M041105 GC17M041569

Summaries
for BRCA1

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EntrezGene summary for BRCA1:

This gene encodes a nuclear phosphoprotein that plays a role in maintaining genomic stability, and

it also acts as a tumor suppressor. The encoded protein combines with other tumor suppressors, DNA

damage sensors, and signal transducers to form a large multi-subunit protein complex known as the

BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA

polymerase II, and through the C-terminal domain, also interacts with histone deacetylase

complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks,

and recombination. Mutations in this gene are responsible for approximately 40% of inherited

breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing

plays a role in modulating the subcellular localization and physiological function of this gene.

Many alternatively spliced transcript variants, some of which are disease-associated mutations,

have been described for this gene, but the full-length natures of only some of these variants has

been described. A related pseudogene, which is also located on chromosome 17, has been identified.

[provided by RefSeq]

UniProtKB/Swiss-Prot: BRCA1_HUMAN, P38398

Function: The BRCA1-BARD1 heterodimer coordinates a diverse range of cellular pathways such as DNA

damage repair, ubiquitination and transcriptional regulation to maintain genomic stability. Acts

by mediating ubiquitin E3 ligase activity that is required for its tumor suppressor function.

Plays a central role in DNA repair by facilitating cellular response to DNA repair. Required for

appropriate cell cycle arrests after ionizing irradiation in both the S-phase and the G2 phase of

the cell cycle. Involved in transcriptional regulation of P21 in response to DNA damage. Required

for FANCD2 targeting to sites of DNA damage. May function as a transcriptional regulator. Inhibits

lipid synthesis by binding to inactive phosphorylated ACACA and preventing its dephosphorylation

Gene Wiki entry for BRCA1

Aliases ARHN ^2, 3 RHO7 ^2, 3 Rho7 ^1, 3 RhoN ^1, 2 Rnd2 ^3

Descriptions GTP-binding protein Rho7 ^2 Rho family GTPase 2 ^2, 3 Rho-related GTP-binding protein RhoN ^2 ras homolog gene family, member N ^1, 2

External Ids HGNC: 18315^1 Entrez Gene: 8153^2 UniProtKB: P52198^3 Ensembl: ENSG00000108830^7

Search outside databases for aliases for RND2 gene

Summaries
for RND2

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EntrezGene summary for RND2:

This gene encodes a member of the Rho GTPase family, whose members play a key role in the

regulation of actin cytoskeleton organization in response to extracellular growth factors. This

particular family member has been implicated in the regulation of neuronal morphology and

endosomal trafficking. The gene localizes to chromosome 17 and is the centromeric neighbor of the

breast-ovarian cancer susceptibility gene BRCA1. [provided by RefSeq]

UniProtKB/Swiss-Prot: RND2_HUMAN, P52198

Function: May be specifically involved in neuronal and hepatic functions. Is a C3 toxin-insensitive

member of the Rho subfamily (By similarity)

Gene Wiki entry for RND2 (Rnd2)

Aliases EC 1.-.-.- ^3 FLJ20230 ^1, 2 VATI ^1, 2

Descriptions membrane protein of cholinergic synaptic vesicles ^2 synaptic vesicle membrane protein VAT-1 homolog ^2 vesicle amine transport protein 1 ^2 vesicle amine transport protein 1 homolog (T. californica) ^2

External Ids HGNC: 16919^1 Entrez Gene: 10493^2 UniProtKB: Q99536^3 Ensembl: ENSG00000108828^7

Search outside databases for aliases for VAT1 gene

Previous GC identifers: GC17P062358 GC17M043328 GC17M041075 GC17M041539

Summaries
for VAT1

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EntrezGene summary for VAT1:

Synaptic vesicles are responsible for regulating the storage and release of neurotransmitters in

the nerve terminal. The protein encoded by this gene is an abundant integral membrane protein of

cholinergic synaptic vesicles and is thought to be involved in vesicular transport. It belongs to

the quinone oxidoreductase subfamily of zinc-containing alcohol dehydrogenase proteins. [provided

by RefSeq]

Gene Wiki entry for VAT1

s.77637 gnl|UG|Hs#S953183 Homo sapiens PAC clone DJ0170O19 from 7p15-p21 41448_at 31 M

Aliases BM045 ^2 HIBDL ^2, 3 NP60 ^2

Descriptions 3-hydroxyisobutyrate dehydrogenase-like ^2 3-hydroxyisobutyrate dehydrogenase-like protein ^3 Nuclear protein of 60 kDa ^3 cytokine-like nuclear factor n-pac ^2, 3 nuclear protein 60 kDa ^2

External Ids Entrez Gene: 84656^2 UniProtKB: Q49A26^3 Ensembl: ENSG00000140632^7

Search outside databases for aliases for N-PAC gene

Previous GC identifers: GC16M004879 GC16M004853

Summaries
for N-PAC

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UniProtKB/Swiss-Prot: NP60_HUMAN, Q49A26

Function: Regulates p38 MAP kinase activity by mediating stress activation of p38alpha/MAPK14 and

specifically regulating MAPK14 signaling. Indirectly promotes phosphorylation of MAPK14 and

activation of ATF2. The phosphorylation of MAPK14 requires upstream activity of MAP2K4 and MAP2K6

Hs.4316 gnl|UG|Hs#S891741 Homo sapiens CAGH32 mRNA, partial cds 34815_at 31 P

Hs.215595 gnl|UG|Hs#S552961 Human liver mRNA for beta-subunit signal transducing proteins Gs 33341_at 31 M

Aliases OTTHUMP00000001107 ^2 OTTHUMP00000063508 ^2

Descriptions G protein, beta-1 subunit ^2 Transducin beta chain 1 ^2, 3 beta subunit, signal-transducing proteins GS/GI ^2 guanine nucleotide binding protein (G protein), beta polypeptide 1 ^2 guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 1 ^2 guanine nucleotide-binding protein, beta-1 subunit ^2

External Ids HGNC: 4396^1 Entrez Gene: 2782^2 UniProtKB: P62873^3 Ensembl: ENSG00000078369^7

Search outside databases for aliases for GNB1 gene

Previous GC identifers: GC01M001274 GC01M001521 GC01M001585 GC01M001665

Summaries
for GNB1

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EntrezGene summary for GNB1:

Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between

receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These

subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits

are important regulators of alpha subunits, as well as of certain signal transduction receptors

and effectors. This gene uses alternative polyadenylation signals. [provided by RefSeq]

UniProtKB/Swiss-Prot: GBB1_HUMAN, P62873

Function: Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or

transducer in various transmembrane signaling systems. The beta and gamma chains are required for

the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction

Gene Wiki entry for GNB1

Hs.90078 gnl|UG|Hs#S1367691 Homo sapiens mRNA for putative Sqv-7-like protein, partial 38005_at 31 P

Hs.27076 gnl|UG|Hs#S705780 H.sapiens mRNA for phosphate cyclase 35195_at 31 P

Aliases 2310040A02Rik ^2 OTTHUMP00000021017 ^2 RNAC ^1, 2, 3 RPC2 ^3 RPCL1 ^1, 2, 3 RTC2 ^3

Descriptions RNA cyclase homolog ^2 RNA terminal phosphate cyclase-like 1 ^2

External Ids HGNC: 17687^1 Entrez Gene: 10171^2 UniProtKB: Q9Y2P8^3 Ensembl: ENSG00000120158^7

Search outside databases for aliases for RCL1 gene

Summaries
for RCL1

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UniProtKB/Swiss-Prot: RCL1_HUMAN, Q9Y2P8

Function: Does not have cyclase activity. Plays a role in 40S-ribosomal-subunit biogenesis in the

early pre-rRNA processing steps at sites A0, A1 and A2 that are required for proper maturation of

the 18S RNA (By similarity)

Gene Wiki entry for RCL1

Hs.554 gnl|UG|Hs#S780 Human SS-A 35294_at 31 P

Aliases RNF81 ^1, 2, 3 RO52 ^1, 2, 3, 5 Ro(SS-A) ^3 SS-A ^3 SSA ^2 SSA1 ^2, 3, 5

Descriptions 52 kDa ribonucleoprotein autoantigen Ro/SS-A ^3 RING finger protein 81 ^3 Sicca syndrome antigen A ^2 Sjoegren syndrome type A antigen ^3 Sjogren syndrome antigen A1 (52kDa, ribonucleoprotein autoantigen SS-A/Ro) ^1, 2 Tripartite motif-containing protein 21 ^3 tripartite motif protein 21 ^2 tripartite motif-containing 21 ^2

External Ids HGNC: 11312^1 Entrez Gene: 6737^2 UniProtKB: P19474^3 Ensembl: ENSG00000132109^7

Search outside databases for aliases for TRIM21 gene

Summaries
for TRIM21

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EntrezGene summary for TRIM21:

This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three

zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The

encoded protein is part of the RoSSA ribonucleoprotein, which includes a single polypeptide and

one of four small RNA molecules. The RoSSA particle localizes to both the cytoplasm and the

nucleus. RoSSA interacts with autoantigens in patients with Sjogren syndrome and systemic lupus

erythematosus. Alternatively spliced transcript variants for this gene have been described but the

full-length nature of only one has been determined. [provided by RefSeq]

UniProtKB/Swiss-Prot: RO52_HUMAN, P19474

Function: Ribonucleoprotein particle composed of a single polypeptide and one of four small RNA

molecules. It is present in all mammalian cells studied but has no known function. At least two

isoforms are present in nucleated and red blood cells, and tissue specific differences in RO/SSA

proteins have been identified. The common feature of these proteins is their ability to bind HY

RNAs

Gene Wiki entry for TRIM21

Hs.10315 gnl|UG|Hs#S553732 Human mRNA for KIAA0245 gene, complete cds 39533_at 31 M

Aliases DKFZp686K15246 ^2 KIAA0245 ^1, 2, 3 LAT-2 ^1, 2 LAT3 ^1, 2 Y+LAT2 ^3 y+LAT-2 ^1, 2, 3

Descriptions Cationic amino acid transporter, y+ system ^3 Solute carrier family 7 member 6 ^3 amino acid permease ^2 solute carrier family 7 (cationic amino acid transporter, y+ system), member 6 ^2 y(+)L-type amino acid transporter 2 ^3

External Ids HGNC: 11064^1 Entrez Gene: 9057^2 UniProtKB: Q92536^3 Ensembl: ENSG00000103064^7

Search outside databases for aliases for SLC7A6 gene

Previous GC identifers: GC16P058995 GC16P068678 GC16P068033 GC16P068076 GC16P068074 GC16U900049

Summaries
for SLC7A6

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UniProtKB/Swiss-Prot: YLAT2_HUMAN, Q92536

Function: Involved in the sodium-independent uptake of dibasic amino acids and sodium-dependent

uptake of some neutral amino acids. Requires co-expression with SLC3A2/4F2hc to mediate the uptake

of arginine, leucine and glutamine. Also acts as an arginine/glutamine exchanger, following an

antiport mechanism for amino acid transport, influencing arginine release in exchange for

extracellular amino acids. Plays a role in nitric oxide synthesis in human umbilical vein

endothelial cells (HUVECs) via transport of L-arginine. Involved in the transport of L-arginine in

monocytes. Reduces uptake of ornithine in retinal pigment epithelial (RPE) cells

Hs.1244 gnl|UG|Hs#S1843 Human CD9 antigen mRNA, complete cds 39389_at 31 P

Aliases 5H9 ^2 BA2 ^1, 2 BTCC-1 ^2 DRAP-27 ^2 GIG2 ^2 MIC3 ^2, 3, 5 MRP-1 ^1, 2, 3 OTTHUMP00000041574 ^2 OTTHUMP00000041576 ^2 P24 ^1, 2 TSPAN29 ^1, 2, 3 Tetraspanin-29 ^3 Tspan-29 ^3 p24 ^3

Descriptions 5H9 antigen ^2, 3 CD9 antigen ^2, 3 CD9 antigen (p24) ^1, 2 CD9 molecule ^2 Cell growth-inhibiting gene 2 protein ^3 Leukocyte antigen MIC3 ^2, 3 Motility-related protein ^3 antigen defined by monoclonal antibody 602-29 ^2 growth-inhibiting gene 2 protein ^2 motility related protein ^2 motility related protein-1 ^2 p24 antigen ^2

External Ids HGNC: 1709^1 Entrez Gene: 928^2 UniProtKB: P21926^3 Ensembl: ENSG00000010278^7

Search outside databases for aliases for CD9 gene

Previous GC identifers: GC12P006164 GC12P006284

Summaries
for CD9

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EntrezGene summary for CD9:

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. This encoded protein

is a cell surface glycoprotein that is known to complex with integrins and other transmembrane 4

superfamily proteins. It can modulate cell adhesion and migration and also trigger platelet

activation and aggregation. In addition, the protein appears to promote muscle cell fusion and

support myotube maintenance. [provided by RefSeq]

UniProtKB/Swiss-Prot: CD9_HUMAN, P21926

Function: Involved in platelet activation and aggregation. Regulates paranodal junction formation.

Involved in cell adhesion, cell motility and tumor metastasis. Required for sperm-egg fusion

Gene Wiki entry for CD9

Hs.174224 gnl|UG|Hs#S452 Homo sapiens mRNA for angiotensin II type 1b receptor, complete cds 346_s_at 31 P

Aliases AG2S ^1, 2 AGTR1A ^1, 2, 3, 5 AGTR1B ^2, 3 AT1 ^1, 2, 3 AT1AR ^3 AT1B ^1, 2 AT1BR ^3 AT1R ^2 AT2R1 ^1, 2, 3, 5 AT2R1A ^1, 2 AT2R1B ^1, 2, 3 HAT1R ^1, 2

Descriptions angiotensin II receptor, type 1 ^2 angiotensin receptor 1 ^2 angiotensin receptor 1B ^1, 2 type-1B angiotensin II receptor ^2

External Ids HGNC: 336^1 Entrez Gene: 185^2 UniProtKB: P30556^3 Ensembl: ENSG00000144891^7

Search outside databases for aliases for AGTR1 gene

Previous GC identifers: GC03P145407 GC03P149300 GC03P149697 GC03P149736

Summaries
for AGTR1

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EntrezGene summary for AGTR1:

Angiotensin II is a potent vasopressor hormone and a primary regulator of aldosterone secretion. It

is an important effector controlling blood pressure and volume in the cardiovascular system. It

acts through at least two types of receptors. This gene encodes the type 1 receptor which is

thought to mediate the major cardiovascular effects of angiotensin II. This gene may play a role

in the generation of reperfusion arrhythmias following restoration of blood flow to ischemic or

infarcted myocardium. It was previously thought that a related gene, denoted as AGTR1B, existed;

however, it is now believed that there is only one type 1 receptor gene in humans. At least five

transcript variants have been described for this gene. Additional variants have been described but

their full-length nature has not been determined. The entire coding sequence is contained in the

terminal exon and is present in all transcript variants. [provided by RefSeq]

UniProtKB/Swiss-Prot: AGTR1_HUMAN, P30556

Function: Receptor for angiotensin II. Mediates its action by association with G proteins that

activate a phosphatidylinositol-calcium second messenger system

Gene Wiki entry for AGTR1 (Angiotensin_II_receptor_type_1)

Hs.1666 gnl|UG|Hs#S2598 Human guanine nucleotide regulatory protein (G13) mRNA, complete cds 33635_at 31 P

Aliases G13 ^1, 2 MGC46138 ^1, 2

Descriptions G alpha-13 ^3 G-protein subunit alpha-13 ^3 guanine nucleotide binding protein (G protein), alpha 13 ^2

External Ids HGNC: 4381^1 Entrez Gene: 10672^2 UniProtKB: Q14344^3 Ensembl: ENSG00000120063^7

Search outside databases for aliases for GNA13 gene

Previous GC identifers: GC17P065359 GC17P068426 GC17M063424 GC17M063556 GC17M063555

Summaries
for GNA13

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UniProtKB/Swiss-Prot: GNA13_HUMAN, Q14344

Function: Guanine nucleotide-binding proteins (G proteins) are involved as modulators or

transducers in various transmembrane signaling systems

Gene Wiki entry for GNA13

Hs.24341 gnl|UG|Hs#S1569794 Homo sapiens mRNA cDNA DKFZp586I1419 (from clone DKFZp586I1419) 31 P

Aliases DKFZp586I1419 ^1, 2 TAZ ^1, 2, 3

Descriptions Transcriptional coactivator with PDZ-binding motif ^3 WW domain containing transcription regulator 1 ^2 transcriptional co-activator with PDZ-binding motif (TAZ) ^2

External Ids HGNC: 24042^1 Entrez Gene: 25937^2 UniProtKB: Q9GZV5^3 Ensembl: ENSG00000018408^7

Search outside databases for aliases for WWTR1 gene

Summaries
for WWTR1

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UniProtKB/Swiss-Prot: WWTR1_HUMAN, Q9GZV5

Function: Functions as a transcriptional coactivator

Gene Wiki entry for WWTR1

Hs.90078 gnl|UG|Hs#S1367691 Homo sapiens mRNA for putative Sqv-7-like protein, partial 38005_at 31 P

Aliases EC 2.4.1.135 ^3 GLCATI ^2, 5 GlcAT-I ^1, 3 GlcUAT-I ^3 Glucuronosyltransferase-I ^3

Descriptions Beta-1,3-glucuronyltransferase 3 ^2, 3 Sqv-8-like protein ^2 UDP-GlcUA:Gal beta-1,3-Gal-R glucuronyltransferase ^3 beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I) ^2 galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase ^2 glucuronosyltransferase I ^2

External Ids HGNC: 923^1 Entrez Gene: 26229^2 UniProtKB: O94766^3 Ensembl: ENSG00000149541^7

Search outside databases for aliases for B3GAT3 gene

Previous GC identifers: GC11M064895 GC11M063958 GC11M062633 GC11M062158

Summaries
for B3GAT3

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EntrezGene summary for B3GAT3:

The protein encoded by this gene is a member of the glucuronyltransferase gene family, enzymes that

exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric

linkages. This gene product catalyzes the formation of the glycosaminoglycan-protein linkage by

way of a glucuronyl transfer reaction in the final step of the biosynthesis of the linkage region

of proteoglycans. [provided by RefSeq]

UniProtKB/Swiss-Prot: B3GA3_HUMAN, O94766

Function: Glycosaminoglycans biosynthesis. Involved in forming the linkage tetrasaccharide present

in heparan sulfate and chondroitin sulfate. Transfers a glucuronic acid moiety from the uridine

diphosphate-glucuronic acid (UDP-GlcUA) to the common linkage region trisaccharide

Gal-beta-1,3-Gal-beta-1,4-Xyl covalently bound to a Ser residue at the glycosaminylglycan

attachment site of proteoglycans. Can also play a role in the biosynthesis of l2/HNK-1

carbohydrate epitope on glycoproteins. Shows strict specificity for Gal-beta-1,3-Gal-beta-1,4-Xyl,

exhibiting negligible incorporation into other galactoside substrates including Galbeta1-3Gal

beta1-O-benzyl, Galbeta1-4GlcNAc and Galbeta1-4Glc

Gene Wiki entry for B3GAT3