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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Disease related genes Human disease related genes
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
13
Cytoband
q13.1
Chromosome location (bp)
32315086 - 32400268
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Involved in double-strand break repair and/or homologous recombination. Binds RAD51 and potentiates recombinational DNA repair by promoting assembly of RAD51 onto single-stranded DNA (ssDNA). Acts by targeting RAD51 to ssDNA over double-stranded DNA, enabling RAD51 to displace replication protein-A (RPA) from ssDNA and stabilizing RAD51-ssDNA filaments by blocking ATP hydrolysis. Part of a PALB2-scaffolded HR complex containing RAD51C and which is thought to play a role in DNA repair by HR. May participate in S phase checkpoint activation. Binds selectively to ssDNA, and to ssDNA in tailed duplexes and replication fork structures. May play a role in the extension step after strand invasion at replication-dependent DNA double-strand breaks; together with PALB2 is involved in both POLH localization at collapsed replication forks and DNA polymerization activity. In concert with NPM1, regulates centrosome duplication. Interacts with the TREX-2 complex (transcription and export complex 2) subunits PCID2 and SEM1, and is required to prevent R-loop-associated DNA damage and thus transcription-associated genomic instability. Silencing of BRCA2 promotes R-loop accumulation at actively transcribed genes in replicating and non-replicating cells, suggesting that BRCA2 mediates the control of R-loop associated genomic instability, independently of its known role in homologous recombination 1....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
DNA-binding
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Cell cycle, DNA damage, DNA recombination, DNA repair
Gene summary (Entrez)i
Useful information about the gene from Entrez
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 largest exon in both genes is exon 11, which harbors the most important and frequent mutations in breast cancer patients. The BRCA2 gene was found on chromosome 13q12.3 in human. 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, May 2020]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
P51587 [Direct mapping] Breast cancer type 2 susceptibility protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Candidate cancer biomarkers Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Cancers Cancers of the digestive system Cancers of the breast and female genital organs Cancers of the urinary system Cancers of eye, brain, and central nervous system Cardiovascular diseases Hematologic diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000152[nuclear ubiquitin ligase complex] GO:0000722[telomere maintenance via recombination] GO:0000724[double-strand break repair via homologous recombination] GO:0000781[chromosome, telomeric region] GO:0000800[lateral element] GO:0001556[oocyte maturation] GO:0001833[inner cell mass cell proliferation] GO:0002020[protease binding] GO:0003677[DNA binding] GO:0003697[single-stranded DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0005737[cytoplasm] GO:0005813[centrosome] GO:0005815[microtubule organizing center] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0006281[DNA repair] GO:0006289[nucleotide-excision repair] GO:0006302[double-strand break repair] GO:0006310[DNA recombination] GO:0006355[regulation of DNA-templated transcription] GO:0006974[cellular response to DNA damage stimulus] GO:0006978[DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator] GO:0007049[cell cycle] GO:0007141[male meiosis I] GO:0007283[spermatogenesis] GO:0007420[brain development] GO:0008022[protein C-terminus binding] GO:0008283[cell population proliferation] GO:0008585[female gonad development] GO:0008630[intrinsic apoptotic signaling pathway in response to DNA damage] GO:0010165[response to X-ray] GO:0010225[response to UV-C] GO:0010332[response to gamma radiation] GO:0010484[H3 histone acetyltransferase activity] GO:0010485[histone H4 acetyltransferase activity] GO:0030097[hemopoiesis] GO:0030141[secretory granule] GO:0032465[regulation of cytokinesis] GO:0032991[protein-containing complex] GO:0033593[BRCA2-MAGE-D1 complex] GO:0033600[negative regulation of mammary gland epithelial cell proliferation] GO:0035518[histone H2A monoubiquitination] GO:0042771[intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator] GO:0042802[identical protein binding] GO:0043009[chordate embryonic development] GO:0043015[gamma-tubulin binding] GO:0043966[histone H3 acetylation] GO:0043967[histone H4 acetylation] GO:0045893[positive regulation of DNA-templated transcription] GO:0045931[positive regulation of mitotic cell cycle] GO:0048478[replication fork protection] GO:0050896[response to stimulus] GO:0051276[chromosome organization] GO:0051298[centrosome duplication] GO:0051865[protein autoubiquitination] GO:0070200[establishment of protein localization to telomere] GO:0071425[hematopoietic stem cell proliferation] GO:0071479[cellular response to ionizing radiation] GO:0072089[stem cell proliferation] GO:0090398[cellular senescence] GO:1990391[DNA repair complex] GO:1990426[mitotic recombination-dependent replication fork processing] GO:2000001[regulation of DNA damage checkpoint]
A0A590UJI7 [Direct mapping] Breast cancer type 2 susceptibility protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Cancers of the breast and female genital organs Cancers of the urinary system Cancers of eye, brain, and central nervous system Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
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GO:0000724[double-strand break repair via homologous recombination] GO:0006281[DNA repair]
P51587 [Direct mapping] Breast cancer type 2 susceptibility protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Candidate cancer biomarkers Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Cancers Cancers of the digestive system Cancers of the breast and female genital organs Cancers of the urinary system Cancers of eye, brain, and central nervous system Cardiovascular diseases Hematologic diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
P51587 [Direct mapping] Breast cancer type 2 susceptibility protein
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A0A7P0T9D7 [Direct mapping] Breast cancer type 2 susceptibility protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Candidate cancer biomarkers Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Cancers Cancers of the digestive system Cancers of the breast and female genital organs Cancers of the urinary system Cancers of eye, brain, and central nervous system Cardiovascular diseases Hematologic diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
MEMSAT-SVM predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Cancers of the breast and female genital organs Cancers of the urinary system Cancers of eye, brain, and central nervous system Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
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GO:0000724[double-strand break repair via homologous recombination] GO:0006281[DNA repair]
The Human Protein Atlas project is funded
