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

    Gene ID: 675, updated on 6-Dec-2016
    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]
    Orthologs
    Location:
    13q13.1
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 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

    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
    MedGen: C1838457 OMIM: 605724 GeneReviews: Fanconi Anemia
    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 IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    NOT histone acetyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protease binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein C-terminus binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    DNA synthesis involved in DNA repair TAS
    Traceable Author Statement
    more info
     
    brain development IEA
    Inferred from Electronic Annotation
    more info
     
    cell aging IEA
    Inferred from Electronic Annotation
    more info
     
    centrosome duplication IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    chromosome breakage IEA
    Inferred from Electronic Annotation
    more info
     
    cytokinesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    double-strand break repair IMP
    Inferred from Mutant Phenotype
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    female gonad development IEA
    Inferred from Electronic Annotation
    more info
     
    hemopoiesis IEA
    Inferred from Electronic Annotation
    more info
     
    histone H3 acetylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    histone H4 acetylation IDA
    Inferred from Direct Assay
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    male meiosis I IEA
    Inferred from Electronic Annotation
    more info
     
    mitotic recombination-dependent replication fork processing IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of mammary gland epithelial cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleotide-excision repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    oocyte maturation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of mitotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of cytokinesis IEA
    Inferred from Electronic Annotation
    more info
     
    replication fork protection IEA
    Inferred from Electronic Annotation
    more info
     
    response to UV-C IEA
    Inferred from Electronic Annotation
    more info
     
    response to X-ray IEA
    Inferred from Electronic Annotation
    more info
     
    response to gamma radiation IEA
    Inferred from Electronic Annotation
    more info
     
    spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    strand displacement TAS
    Traceable Author Statement
    more info
     
    telomere maintenance via recombination IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    BRCA2-MAGE-D1 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
     
    lateral element IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear chromosome, telomeric region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein complex IDA
    Inferred from Direct Assay
    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

    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, OTTHUMP00000018803, ENST00000380152, 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 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p7 Primary Assembly

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

    Alternate CHM1_1.1

    Genomic

    1. NC_018924.2 Alternate CHM1_1.1

      Range
      32857164..32941322
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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