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BRCA2 BRCA2, DNA repair associated [ Homo sapiens (human) ]

Gene ID: 675, updated on 10-Jun-2018
Official Symbol
BRCA2provided by HGNC
Official Full Name
BRCA2, DNA repair associatedprovided by HGNC
Primary source
HGNC:HGNC:1101
See related
Ensembl:ENSG00000139618 MIM:600185; Vega:OTTHUMG00000017411
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FAD; FACD; FAD1; GLM3; BRCC2; FANCD; PNCA2; FANCD1; XRCC11; BROVCA2
Summary
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, Dec 2008]
Expression
Broad expression in bone marrow (RPKM 2.9), testis (RPKM 2.2) and 17 other tissues See more
Orthologs
See BRCA2 in Genome Data Viewer
Location:
13q13.1
Exon count:
27
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 13 NC_000013.11 (32315480..32399672)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (32889617..32973809)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene FRY antisense RNA 1 Neighboring gene FRY microtubule binding protein Neighboring gene BRCA2 promoter/silencer region Neighboring gene zygote arrest 1 like Neighboring gene interferon induced protein with tetratricopeptide repeats 1 pseudogene 1 Neighboring gene NEDD4 binding protein 2 like 1 Neighboring gene NEDD4 binding protein 2 like 2 Neighboring gene ATPase phospholipid transporting 8A2 pseudogene 2

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Professional guidelines

Description
Professional guideline
ACMG 2013

The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in BRCA2 that are pathogenic or expected to be pathogenic.

GuidelinePubMed

Associated conditions

Description Tests
Breast-ovarian cancer, familial 2 Compare labs
Familial cancer of breast Compare labs
Fanconi anemia, complementation group D1 Compare labs
Glioma susceptibility 3
MedGen: C2751641 OMIM: 613029 GeneReviews: Not available
Compare labs
Hereditary breast and ovarian cancer syndrome Compare labs
Malignant tumor of prostate
MedGen: C0376358 OMIM: 176807 GeneReviews: Not available
Compare labs
Medulloblastoma
MedGen: C0025149 OMIM: 155255 GeneReviews: Not available
Compare labs
Pancreatic cancer 2
MedGen: C3150546 OMIM: 613347 GeneReviews: Not available
Compare labs
Tracheoesophageal fistula Compare labs
Wilms tumor 1 Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-07-06)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-07-06)

ClinGen Genome Curation Page

NHGRI GWAS Catalog

Description
Discovery and refinement of loci associated with lipid levels.
NHGRI GWA Catalog
Genome-wide association studies identify four ER negative-specific breast cancer risk loci.
NHGRI GWA Catalog
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
NHGRI GWA Catalog
Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer.
NHGRI GWA Catalog
  • Breast cancer, organism-specific biosystem (from KEGG)
    Breast cancer, organism-specific biosystemBreast cancer is the leading cause of cancer death among women worldwide. The vast majority of breast cancers are carcinomas that originate from cells lining the milk-forming ducts of the mammary gla...
  • Breast cancer, conserved biosystem (from KEGG)
    Breast cancer, conserved biosystemBreast cancer is the leading cause of cancer death among women worldwide. The vast majority of breast cancers are carcinomas that originate from cells lining the milk-forming ducts of the mammary gla...
  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • DNA Double-Strand Break Repair, organism-specific biosystem (from REACTOME)
    DNA Double-Strand Break Repair, organism-specific biosystemNumerous types of DNA damage can occur within a cell due to the endogenous production of oxygen free radicals, normal alkylation reactions, or exposure to exogenous radiations and chemicals. Double-s...
  • DNA Repair, organism-specific biosystem (from REACTOME)
    DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
  • FOXM1 transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
    FOXM1 transcription factor network, organism-specific biosystem
    FOXM1 transcription factor network
  • Fanconi anemia pathway, organism-specific biosystem (from KEGG)
    Fanconi anemia pathway, organism-specific biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
  • Fanconi anemia pathway, conserved biosystem (from KEGG)
    Fanconi anemia pathway, conserved biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
  • HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystem (from REACTOME)
    HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystemHomology directed repair (HDR) of replication-independent DNA double strand breaks (DSBs) via homologous recombination repair (HRR) or single strand annealing (SSA) requires the activation of ATM fol...
  • HDR through Homologous Recombination (HRR), organism-specific biosystem (from REACTOME)
    HDR through Homologous Recombination (HRR), organism-specific biosystemHomology directed repair (HDR) through homologous recombination is known as homologous recombination repair (HRR). HRR occurs after extensive resection of DNA double strand break (DSB) ends, which cr...
  • Homologous DNA Pairing and Strand Exchange, organism-specific biosystem (from REACTOME)
    Homologous DNA Pairing and Strand Exchange, organism-specific biosystemThe presynaptic phase of homologous DNA pairing and strand exchange begins with the displacement of RPA from 3'-ssDNA overhangs created by extensive resection of DNA double strand break (DSB) ends. R...
  • Homologous recombination, organism-specific biosystem (from KEGG)
    Homologous recombination, organism-specific biosystemHomologous recombination (HR) is essential for the accurate repair of DNA double-strand breaks (DSBs), potentially lethal lesions. HR takes place in the late S-G2 phase of the cell cycle and involves...
  • Homologous recombination, organism-specific biosystem (from WikiPathways)
    Homologous recombination, organism-specific biosystemHomologous recombination, also known as general recombination, is a type of genetic recombination in which nucleotide sequences are exchanged between two similar or identical strands of DNA. Source:...
  • Homologous recombination, conserved biosystem (from KEGG)
    Homologous recombination, conserved biosystemHomologous recombination (HR) is essential for the accurate repair of DNA double-strand breaks (DSBs), potentially lethal lesions. HR takes place in the late S-G2 phase of the cell cycle and involves...
  • Homology Directed Repair, organism-specific biosystem (from REACTOME)
    Homology Directed Repair, organism-specific biosystemHomology directed repair (HDR) of DNA double strand breaks (DSBs) requires resection of DNA DSB ends. Resection creates 3'-ssDNA overhangs which then anneal with a homologous DNA sequence. This homol...
  • Integrated Breast Cancer Pathway, organism-specific biosystem (from WikiPathways)
    Integrated Breast Cancer Pathway, organism-specific biosystemThis pathway incorporates the most important proteins for Breast Cancer. The Rp score from the Connectivity-Maps (C-Maps) webserver was used to determine the rank of the most important proteins in Br...
  • Integrated Pancreatic Cancer Pathway, organism-specific biosystem (from WikiPathways)
    Integrated Pancreatic Cancer Pathway, organism-specific biosystemAn integrated pathway model which displays the protein-protein interactions (PPIs) among the relevant proteins for pancreatic cancer. This pathway is a collection of different mechanistic protein pat...
  • Meiosis, organism-specific biosystem (from REACTOME)
    Meiosis, organism-specific biosystemDuring meiosis the replicated chromosomes of a single diploid cell are segregated into 4 haploid daughter cells by two successive divisions, meiosis I and meiosis II. In meiosis I, the distinguishing...
  • Meiotic recombination, organism-specific biosystem (from REACTOME)
    Meiotic recombination, organism-specific biosystemMeiotic recombination exchanges segments of duplex DNA between chromosomal homologs, generating genetic diversity (reviewed in Handel and Schimenti 2010, Inagaki et al. 2010, Cohen et al. 2006). Ther...
  • Pancreatic cancer, organism-specific biosystem (from KEGG)
    Pancreatic cancer, organism-specific biosystemInfiltrating ductal adenocarcinoma is the most common malignancy of the pancreas. When most investigators use the term 'pancreatic cancer' they are referring to pancreatic ductal adenocarcinoma (PDA)...
  • Pancreatic cancer, conserved biosystem (from KEGG)
    Pancreatic cancer, conserved biosystemInfiltrating ductal adenocarcinoma is the most common malignancy of the pancreas. When most investigators use the term 'pancreatic cancer' they are referring to pancreatic ductal adenocarcinoma (PDA)...
  • Pathways in cancer, organism-specific biosystem (from KEGG)
    Pathways in cancer, organism-specific biosystem
    Pathways in cancer
  • Presynaptic phase of homologous DNA pairing and strand exchange, organism-specific biosystem (from REACTOME)
    Presynaptic phase of homologous DNA pairing and strand exchange, organism-specific biosystemThe presynaptic phase of homologous DNA pairing and strand exchange during homologous recombination repair (HRR) begins with the displacement of RPA from ssDNA (Thompson and Limoli 2003) by the joint...
  • Resolution of D-Loop Structures, organism-specific biosystem (from REACTOME)
    Resolution of D-Loop Structures, organism-specific biosystemOnce repair synthesis has occurred, the D-loop structure may be resolved either through Holliday junction intermediates or through synthesis-dependent strand-annealing (SDSA) (Prado and Aguilera 2003...
  • Resolution of D-loop Structures through Holliday Junction Intermediates, organism-specific biosystem (from REACTOME)
    Resolution of D-loop Structures through Holliday Junction Intermediates, organism-specific biosystemD-loops generated after strand invasion and DNA repair synthesis during homologous recombination repair (HRR) can be resolved through Holliday junction intermediates.A D-loop can be cleaved by the co...
  • Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA), organism-specific biosystem (from REACTOME)
    Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA), organism-specific biosystemIn the synthesis-dependent strand-annealing (SDSA) model of D-loop resolution, D-loop strands extended by DNA repair synthesis dissociate from their sister chromatid complements and reanneal with the...
  • Signaling Pathways in Glioblastoma, organism-specific biosystem (from WikiPathways)
    Signaling Pathways in Glioblastoma, organism-specific biosystemThe most frequently altered genes in glioblastoma. This pathway originally accompanied the 2008 Nature publication on the comprehensive genomic characterization of human glioblastoma genes and core p...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
H3 histone acetyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
H4 histone acetyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
gamma-tubulin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
gamma-tubulin binding IPI
Inferred from Physical Interaction
more info
PubMed 
NOT histone acetyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NOT histone acetyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protease binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protease binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein C-terminus binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein C-terminus binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
single-stranded DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
single-stranded DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator IEA
Inferred from Electronic Annotation
more info
 
DNA synthesis involved in double-strand break repair via homologous recombination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
brain development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
brain development IEA
Inferred from Electronic Annotation
more info
 
cell aging IEA
Inferred from Electronic Annotation
more info
 
centrosome duplication IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
centrosome duplication IMP
Inferred from Mutant Phenotype
more info
PubMed 
double-strand break repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
double-strand break repair via homologous recombination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
double-strand break repair via homologous recombination IDA
Inferred from Direct Assay
more info
PubMed 
double-strand break repair via homologous recombination IMP
Inferred from Mutant Phenotype
more info
PubMed 
establishment of protein localization to telomere IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
establishment of protein localization to telomere IDA
Inferred from Direct Assay
more info
PubMed 
female gonad development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
female gonad development IEA
Inferred from Electronic Annotation
more info
 
hemopoiesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hemopoiesis IEA
Inferred from Electronic Annotation
more info
 
histone H3 acetylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
histone H3 acetylation IDA
Inferred from Direct Assay
more info
PubMed 
histone H4 acetylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
histone H4 acetylation IDA
Inferred from Direct Assay
more info
PubMed 
homologous chromosome orientation involved in meiotic metaphase I plate congression IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
inner cell mass cell proliferation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
inner cell mass cell proliferation IEA
Inferred from Electronic Annotation
more info
 
intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator IEA
Inferred from Electronic Annotation
more info
 
male meiosis I IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
male meiosis I IEA
Inferred from Electronic Annotation
more info
 
mammary gland development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
meiotic DNA repair synthesis involved in reciprocal meiotic recombination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
meiotic recombination checkpoint IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitotic cytokinesis IDA
Inferred from Direct Assay
more info
PubMed 
mitotic recombination-dependent replication fork processing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitotic recombination-dependent replication fork processing IMP
Inferred from Mutant Phenotype
more info
PubMed 
multicellular organism growth IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of mammary gland epithelial cell proliferation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of mammary gland epithelial cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
nucleotide-excision repair IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleotide-excision repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
oocyte maturation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oocyte maturation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of mitotic cell cycle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of mitotic cell cycle IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cell proliferation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of cytokinesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of cytokinesis IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
replication fork protection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
replication fork protection IEA
Inferred from Electronic Annotation
more info
 
response to UV-C IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to UV-C IEA
Inferred from Electronic Annotation
more info
 
response to X-ray IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to X-ray IEA
Inferred from Electronic Annotation
more info
 
response to estradiol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to gamma radiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to gamma radiation IEA
Inferred from Electronic Annotation
more info
 
response to nutrient IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
spermatogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
telomere maintenance via recombination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
telomere maintenance via recombination IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
BRCA2-MAGE-D1 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
BRCA2-MAGE-D1 complex IDA
Inferred from Direct Assay
more info
PubMed 
centrosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
lateral element IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lateral element IDA
Inferred from Direct Assay
more info
PubMed 
nuclear chromosome, telomeric region IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear chromosome, telomeric region IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
secretory granule IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
secretory granule IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
breast cancer type 2 susceptibility protein
Names
BRCA1/BRCA2-containing complex, subunit 2
Fanconi anemia group D1 protein
breast and ovarian cancer susceptibility gene, early onset
breast and ovarian cancer susceptibility protein 2
breast cancer 2 tumor suppressor
breast cancer 2, early onset
mutant BRCA2
truncated breast cancer 2

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012772.3 RefSeqGene

    Range
    5001..89193
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_293

mRNA and Protein(s)

  1. NM_000059.3NP_000050.2  breast cancer type 2 susceptibility protein

    See identical proteins and their annotated locations for NP_000050.2

    Status: REVIEWED

    Source sequence(s)
    AL137247, AL445212, U43746
    Consensus CDS
    CCDS9344.1
    UniProtKB/Swiss-Prot
    P51587
    Related
    ENSP00000369497.3, OTTHUMP00000018803, ENST00000380152.7, OTTHUMT00000046000
    Conserved Domains (5) summary
    cd04494
    Location:28043054
    BRCA2DBD_OB2; BRCA2DBD_OB2: A subfamily of OB folds corresponding to the second OB fold (OB2) of the 800-amino acid C-terminal ssDNA binding domain (DBD) of BRCA2 (breast cancer susceptibility gene 2) protein, called BRCA2DBD. BRCA2 participates in homologous ...
    pfam00634
    Location:15181549
    BRCA2; BRCA2 repeat
    pfam09103
    Location:26702793
    BRCA-2_OB1; BRCA2, oligonucleotide/oligosaccharide-binding, domain 1
    pfam09104
    Location:30573186
    BRCA-2_OB3; BRCA2, oligonucleotide/oligosaccharide-binding, domain 3
    pfam09169
    Location:24812667
    BRCA-2_helical; BRCA2, helical

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p12 Primary Assembly

    Range
    32315480..32399672
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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