Hs.320 gnl|UG|Hs#S429 Human mRNA for XP-C repair complementing protein (p125), complete cds 35647_at 14 P

Search outside databases for aliases for XPC gene

Previous GC identifer: GC03M014115

Summaries
for XPC

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EntrezGene summary for XPC:

This gene encodes a component of the nucleotide excision repair (NER) pathway. There are multiple

components involved in the NER pathway, including Xeroderma pigmentosum (XP) A-G and V, Cockayne

syndrome (CS) A and B, and trichothiodystrophy (TTD) group A, etc. This component, XPC, plays an

important role in the early steps of global genome NER, especially in damage recognition, open

complex formation, and repair protein complex formation. Mutations in this gene or some other NER

components result in Xeroderma pigmentosum, a rare autosomal recessive disorder characterized by

increased sensitivity to sunlight with the development of carcinomas at an early age.

Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq]

UniProtKB/Swiss-Prot: XPC_HUMAN, Q01831

Function: Involved in DNA excision repair. May play a part in DNA damage recognition and/or in

altering chromatin structure to allow access by damage-processing enzymes

Gene Wiki entry for XPC 

Hs.34012 gnl|UG|Hs#S305504 Human breast cancer susceptibility (BRCA2) mRNA, complete cds 1990_g_at 14 P

Search outside databases for aliases for BRCA2 gene

Previous GC identifers: GC13P030875 GC13P026876 GC13P031826 GC13P030687

Summaries
for BRCA2

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EntrezGene summary for BRCA2:

Inherited mutations in BRCA1 and this gene, BRCA2, confer increased lifetime risk of developing

breast or ovarian cancer. Both BRCA1 and BRCA2 are involved in maintenance of genome stability,

specifically the homologous recombination pathway for double-strand DNA repair. The BRCA2 protein

contains several copies of a 70 aa motif called the BRC motif, and these motifs mediate binding to

the RAD51 recombinase which functions in DNA repair. BRCA2 is considered a tumor suppressor gene,

as tumors with BRCA2 mutations generally exhibit loss of heterozygosity (LOH) of the wild-type

allele. [provided by RefSeq]

UniProtKB/Swiss-Prot: BRCA2_HUMAN, P51587

Function: Involved in double-strand break repair and/or homologous recombination. May participate

in S phase checkpoint activation

Gene Wiki entry for BRCA2

Hs.73957 gnl|UG|Hs#S3204 Homo sapiens GTP-binding protein (RAB5) mRNA, complete cds 36110_at 14 P 

Search outside databases for aliases for RIN2 gene

Previous GC identifers: GC20P019858 GC20P019865

Summaries
for RIN2

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EntrezGene summary for RIN2:

The RAB5 protein is a small GTPase involved in membrane trafficking in the early endocytic pathway.

The protein encoded by this gene binds the GTP-bound form of the RAB5 protein preferentially over

the GDP-bound form, and functions as a guanine nucleotide exchange factor for RAB5. The encoded

protein is found primarily as a tetramer in the cytoplasm and does not bind other members of the

RAB family. [provided by RefSeq]

UniProtKB/Swiss-Prot: RIN2_HUMAN, Q8WYP3

Function: Ras effector protein. May function as an upstream activator and/or downstream effector

for RAB5B in endocytic pathway. May function as a guanine nucleotide exchange (GEF) of RAB5B,

required for activating the RAB5 proteins by exchanging bound GDP for free GTP

Hs.172471 gnl|UG|Hs#S5854 Homo sapiens (clone hKvBeta3) K+ channel beta subunit mRNA, complete cds 32709_at 14 P

Search outside databases for aliases for KCNAB1 gene

Previous GC identifers: GC03P152874 GC03P156956 GC03P157119 GC03P157159

Summaries
for KCNAB1

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EntrezGene summary for KCNAB1:

Potassium channels represent the most complex class of voltage-gated ion channels from both

functional and structural standpoints. Their diverse functions include regulating neurotransmitter

release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport,

smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes -

shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have

human homolog(s). This gene encodes a member of the potassium channel, voltage-gated,

shaker-related subfamily. This member includes three distinct isoforms which are encoded by three

alternatively spliced transcript variants of this gene. These three isoforms are beta subunits,

which form heteromultimeric complex with alpha subunits and modulate the activity of the

pore-forming alpha subunits. [provided by RefSeq]

UniProtKB/Swiss-Prot: KCAB1_HUMAN, Q14722

Function: Accessory potassium channel protein which modulates the activity of the pore-forming

alpha subunit. All three isoforms alter the functional properties of Kv1.4 and Kv1.5. Isoform

KvB1.2 has no effect on Kv1.1, Kv1.2 or Kv2.1

Gene Wiki entry for KCNAB1

Hs.155160 gnl|UG|Hs#S1091020 Homo sapiens SRp46 splicing factor retropseudogene mRNA 40262_at 14 P 

Search outside databases for aliases for SFRS2B gene

Summaries
for SFRS2B

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EntrezGene summary for SFRS2B:

The SR (serine/arginine-rich) family contains a number of phosphoproteins that function as

essential and alternative splicing factors. The SR family of proteins is characterized by the

presence of a ribonucleoprotein (RNP)-type RNA binding motif and a carboxyl-terminal

arginine-serine-rich (RS) domain. The protein encoded by this gene is a member of the SR family

and functions as an essential splicing factor in vitro. This gene is thought to be an expressed

PR264/SC35 retropseudogene. [provided by RefSeq]

UniProtKB/Swiss-Prot: SFR2B_HUMAN, Q9BRL6

Function: Invovlved in pre-mRNA alternative splicing

Hs.107014 gnl|UG|Hs#S953290 Human Chromosome 16 BAC clone CIT987SK-327O24 41417_at 14 P

Search outside databases for aliases for HN1L gene

Previous GC identifer: GC16P001745

Summaries
for HN1L

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Gene Wiki entry for HN1L

Hs.158286 gnl|UG|Hs#S1244962 Homo sapiens mRNA for KIAA0446 protein, partial cds 32091_at 14 M

Search outside databases for aliases for SLC25A44 gene

Summaries
for SLC25A44

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EntrezGene summary for SLC25A44:

SLC25A44 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006

[PubMed 16949250]).[supplied by OMIM]

Hs.106369 gnl|UG|Hs#S382 Human microsomal stress 70 protein ATPase core (stch) mRNA, complete cds 38677_at 14 P

Search outside databases for aliases for PTGS2 gene

Previous GC identifers: GC01M184166 GC01M182068 GC01M183160 GC01M183879 GC01M183372

Summaries
for PTGS2

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EntrezGene summary for PTGS2:

Prostaglandin-endoperoxide synthase (PTGS), also known as cyclooxygenase, is the key enzyme in

prostaglandin biosynthesis, and acts both as a dioxygenase and as a peroxidase. There are two

isozymes of PTGS: a constitutive PTGS1 and an inducible PTGS2, which differ in their regulation of

expression and tissue distribution. This gene encodes the inducible isozyme. It is regulated by

specific stimulatory events, suggesting that it is responsible for the prostanoid biosynthesis

involved in inflammation and mitogenesis. [provided by RefSeq]

UniProtKB/Swiss-Prot: PGH2_HUMAN, P35354

Function: May have a role as a major mediator of inflammation and/or a role for prostanoid

signaling in activity-dependent plasticity

Gene Wiki entry for PTGS2

Hs.194143 gnl|UG|Hs#S554446 Human BRCA1, Rho7 and vatI genes, complete cds, and ipf35 gene, partial cds 604_at 15 P 

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

Hs.55279 gnl|UG|Hs#S520 Human maspin mRNA, complete cds 863_g_at 15 P 

Search outside databases for aliases for SERPINB5 gene

Previous GC identifers: GC18P060982 GC18P061117 GC18P059293

Summaries
for SERPINB5

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UniProtKB/Swiss-Prot: SPB5_HUMAN, P36952

Function: Tumor suppressor. It blocks the growth, invasion, and metastatic properties of mammary

tumors. As it does not undergo the S (stressed) to R (relaxed) conformational transition

characteristic of active serpins, it exhibits no serine protease inhibitory activity

Gene Wiki entry for SERPINB5 (Maspin)

Hs.750 gnl|UG|Hs#S377441 H.sapiens mRNA for fibrillin 32535_at 15 P

Search outside databases for aliases for FBN2 gene

Previous GC identifers: GC05M127131 GC05M128029 GC05M127624 GC05M127669

Summaries
for FBN2

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EntrezGene summary for FBN2:

The protein encoded by this gene is a component of connective tissue microfibrils and may be

involved in elastic fiber assembly. Mutations in this gene cause congenital contractural

arachnodactyly. [provided by RefSeq]

UniProtKB/Swiss-Prot: FBN2_HUMAN, P35556

Function: Fibrillins are structural components of 10-12 nm extracellular calcium-binding

microfibrils, which occur either in association with elastin or in elastin-free bundles.

Fibrillin-2-containing microfibrils regulate the early process of elastic fiber assembly

Hs.194704 gnl|UG|Hs#S1368361 Homo sapiens leucine-rich glioma-inactivated protein precursor (LGI1) mRNA, complete cds 38888_at 15 P

Hs.194704 gnl|UG|Hs#S1368361 Homo sapiens leucine-rich glioma-inactivated protein precursor (LGI1) mRNA, complete cds 38888_at 15 P

Search outside databases for aliases for LGI1 gene

Previous GC identifers: GC10P094410 GC10P094751 GC10P095648 GC10P095182

Summaries
for LGI1

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EntrezGene summary for LGI1:

This gene is rearranged as a result of translocations in glioblastoma cell lines. The protein

contains a hydrophobic segment representing a putative transmembrane domain with the amino

terminus located outside the cell. It also contains leucine-rich repeats with conserved

cysteine-rich flanking sequences. This gene is predominantly expressed in neural tissues and its

expression is reduced in low grade brain tumors and significantly reduced or absent in malignant

gliomas. Mutations in this gene result in autosomal dominant lateral temporal epilepsy. [provided

by RefSeq]

Gene Wiki entry for LGI1

Human lysosome-associated membrane protein-2b (LAMP2) mRNA, alternatively spliced form h-lamp-2b, complete cds 38402_at 15 P

Search outside databases for aliases for LAMP2 gene

Previous GC identifers: GC0XM114382 GC0XM116550 GC0XM117540 GC0XM118318

Summaries
for LAMP2

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EntrezGene summary for LAMP2:

The protein encoded by this gene is a member of a family of membrane glycoproteins. This

glycoprotein provides selectins with carbohydrate ligands. It may play a role in tumor cell

metastasis. It may also function in the protection, maintenance, and adhesion of the lysosome.

Alternative splicing of this gene results in multiple transcript variants encoding distinct

proteins. [provided by RefSeq]

UniProtKB/Swiss-Prot: LAMP2_HUMAN, P13473

Function: Implicated in tumor cell metastasis. May function in protection of the lysosomal membrane

from autodigestion, maintenance of the acidic environment of the lysosome, adhesion when expressed

on the cell surface (plasma membrane), and inter- and intracellular signal transduction

Gene Wiki entry for LAMP2 

Hs.44566 gnl|UG|Hs#S569473 Human protein immuno-reactive with anti-PTH polyclonal antibodies mRNA, partial cds 36020_at 16 P

Search outside databases for aliases for SPAG8 gene

Previous GC identifers: GC09M036120 GC09M035977

Summaries
for SPAG8

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EntrezGene summary for SPAG8:

The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role

for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic

infertility, as well as identification of proteins for targeted contraception, are dependent on

the identification and characterization of relevant sperm antigens. The protein encoded by this

gene is recognized by sperm agglutinating antibodies from an infertile woman. This protein is

localized in germ cells of the testis at all stages of spermatogenesis and is localized to the

acrosomal region of mature spermatozoa. Alternatively spliced variants that encode different

protein isoforms have been described but the full-length sequences of only two have been

determined. [provided by RefSeq]

UniProtKB/Swiss-Prot: SPAG8_HUMAN, Q99932

Function: May play a role in fertility and microtubule formation through interaction with RANBP9

Gene Wiki entry for SPAG8

Hs.109805 gnl|UG|Hs#S952942 Homo sapiens incomplete cDNA for a mutated allele of a myosin class I, myh-1c 41439_at 16 M

Search outside databases for aliases for CFTR gene

Previous GC identifers: GC07P115597 GC07P116660 GC07P116674 GC07P116713

Summaries
for CFTR

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EntrezGene summary for CFTR:

This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins

transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into

seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member

of the MRP subfamily that is involved in multi-drug resistance. The encoded protein functions as a

chloride channel and controls the regulation of other transport pathways. Mutations in this gene

are associated with the autosomal recessive disorders cystic fibrosis and congenital bilateral

aplasia of the vas deferens. Alternatively spliced transcript variants have been described, many

of which result from mutations in this gene. [provided by RefSeq]

UniProtKB/Swiss-Prot: CFTR_HUMAN, P13569

Function: Involved in the transport of chloride ions. May regulate bicarbonate secretion and

salvage in epithelial cells by regulating the SLC4A7 transporter

Gene Wiki entry for CFTR (Cystic_fibrosis_transmembrane_conductance_regulator)

Hs.75258 gnl|UG|Hs#S1090953 Homo sapiens histone macroH2A1.2 mRNA, complete cds 36576_at 16 P

Search outside databases for aliases for H2AFY gene

Previous GC identifers: GC05M134322 GC05M135237 GC05M134700 GC05M134746

Summaries
for H2AFY

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EntrezGene summary for H2AFY:

Histones are basic nuclear proteins that are responsible for the nucleosome structure of the

chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around

a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The

chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA

between the nucleosomes to form higher order chromatin structures. This gene encodes a member of

the histone H2A family. It replaces conventional H2A histones in a subset of nucleosomes where it

represses transcription and participates in stable X chromosome inactivation. Alternative splicing

results in multiple transcript variants encoding different isoforms. [provided by RefSeq]

UniProtKB/Swiss-Prot: H2AY_HUMAN, O75367

Function: Variant histone H2A which replaces conventional H2A in a subset of nucleosomes where it

represses transcription. Nucleosomes wrap and compact DNA into chromatin, limiting DNA

accessibility to the cellular machineries which require DNA as a template. Histones thereby play a

central role in transcription regulation, DNA repair, DNA replication and chromosomal stability.

DNA accessibility is regulated via a complex set of post-translational modifications of histones,

also called histone code, and nucleosome remodeling. Involved in stable X chromosome inactivation.

Inhibits the binding of transcription factors and interferes with the activity of remodeling

SWI/SNF complexes. Inhibits histone acetylation by EP300 and recruits class I HDACs, which induces

an hypoacetylated state of chromatin. In addition, isoform 1, but not isoform 2, binds ADP-ribose

and O-acetyl-ADP-ribose, and may be involved in ADP-ribose-mediated chromatin modulation

Gene Wiki entry for H2AFY

Hs.18573 gnl|UG|Hs#S591986 H.sapiens mRNA for acylphosphatase, erythrocyte (CT) isoenzyme 33334_at 16 P 

Search outside databases for aliases for ACYP1 gene

Previous GC identifers: GC14M073046 GC14M069337 GC14M073509

Summaries
for ACYP1

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EntrezGene summary for ACYP1:

Acylphosphatase is a small cytosolic enzyme that catalyzes the hydrolysis of the carboxyl-phosphate

bond of acylphosphates. Two isoenzymes have been isolated, called muscle acylphosphatase and

erythrocyte acylphosphatase, on the basis of their tissue localization. This gene encodes the

erythrocyte acylphosphatase isoenzyme. Alternatively spliced transcript variants that encode

different proteins were identified through data analysis. [provided by RefSeq]

UniProtKB/Swiss-Prot: ACYP1_HUMAN, P07311

Function: Its physiological role is not yet clear

Gene Wiki entry for ACYP1

Hs.278670 gnl|UG|Hs#S1263992 Homo sapiens okadaic acid-inducible phosphoprotein (OA48-18) mRNA, complete cds 34397_at 16 P

Search outside databases for aliases for CROP gene

Summaries
for CROP

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EntrezGene summary for CROP:

This gene encodes a cisplatin resistance-associated overexpressed protein (CROP). The N-terminal

half of the CROP contains cysteine/histidine motifs and leucine zipper-like repeats, and the

C-terminal half is rich in arginine and glutamate residues (RE domain) and arginine and serine

residues (RS domain). This protein localizes with a speckled pattern in the nucleus, and could be

involved in the formation of splicesome via the RE and RS domains. Two alternatively spliced

transcript variants encoding the same protein have been found for this gene. [provided by RefSeq]

UniProtKB/Swiss-Prot: CROP_HUMAN, O95232

Function: Binds cAMP regulatory element DNA sequence. May play a role in RNA splicing

Gene Wiki entry for CROP

Hs.26450 gnl|UG|Hs#S1263784 Homo sapiens mRNA for KIAA0725 protein, partial cds 35177_at 16 P 

Search outside databases for aliases for DDHD2 gene

Previous GC identifer: GC08P038107

Summaries
for DDHD2

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UniProtKB/Swiss-Prot: DDHD2_HUMAN, O94830

Function: Phospholipase that hydrolyzes preferentially phosphatidic acid and

phosphatidylethanolamine. May be involved in the maintenance of the endoplasmic reticulum and/or

Golgi structures