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

    Gene ID: 675, updated on 26-Jul-2021

    Summary

    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
    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 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]
    Expression
    Broad expression in bone marrow (RPKM 2.9), testis (RPKM 2.2) and 17 other tissues See more
    Orthologs
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    Genomic context

    See BRCA2 in Genome Data Viewer
    Location:
    13q13.1
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (32315508..32400268)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (32889645..32974405)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 10155 Neighboring gene FRY microtubule binding protein Neighboring gene BRCA2 promoter/silencer region Neighboring gene zygote arrest 1 like Neighboring gene Sharpr-MPRA regulatory region 1962 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

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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
    Discovery and refinement of loci associated with lipid levels.
    GeneReviews: Not available
    Familial cancer of breast Compare labs
    Fanconi anemia, complementation group D1 Compare labs
    Genome-wide association studies identify four ER negative-specific breast cancer risk loci.
    GeneReviews: Not available
    Glioma susceptibility 3
    MedGen: C2751641 OMIM: 613029 GeneReviews: Not available
    Compare labs
    Hereditary breast and ovarian cancer syndrome Compare labs
    Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
    GeneReviews: Not available
    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
    Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer.
    GeneReviews: Not available
    Wilms tumor 1 Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2021-07-14)

    ClinGen Genome Curation PagePubMed
    Triplosensitivity

    No evidence available (Last evaluated 2021-07-14)

    ClinGen Genome Curation Page

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables H3 histone acetyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables H4 histone acetyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables gamma-tubulin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    NOT enables histone acetyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protease binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein C-terminus binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables single-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in brain development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell aging IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in centrosome duplication IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in double-strand break repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in double-strand break repair via homologous recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in double-strand break repair via homologous recombination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in double-strand break repair via homologous recombination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in establishment of protein localization to telomere IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in female gonad development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hemopoiesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in histone H3 acetylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in histone H4 acetylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in inner cell mass cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in male meiosis I IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mitotic recombination-dependent replication fork processing IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of mammary gland epithelial cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in nucleotide-excision repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in oocyte maturation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of mitotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of cytokinesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of transcription, DNA-templated IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in replication fork protection IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to UV-C IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to X-ray IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to gamma radiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in telomere maintenance via recombination IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of BRCA2-MAGE-D1 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in chromosome, telomeric region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in lateral element IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in secretory granule IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    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 BRCA2 DNA repair associated
    truncated BRCA2 DNA repair-associated protein
    truncated DNA repair-associated BRCA2
    truncated DNA repair-associated protein
    truncated breast cancer 2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_000059.4NP_000050.3  breast cancer type 2 susceptibility protein

      Status: REVIEWED

      Source sequence(s)
      AL137247, AL445212
      Consensus CDS
      CCDS9344.1
      Related
      ENSP00000369497.3, ENST00000380152.8
      Conserved Domains (5) summary
      cd04494
      Location:28043054
      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 recombination-mediated ...
      pfam00634
      Location:12131243
      BRCA2; BRCA2 repeat
      pfam09103
      Location:26702793
      BRCA-2_OB1; BRCA2, oligonucleotide/oligosaccharide-binding, domain 1
      pfam09104
      Location:30543186
      BRCA-2_OB3; BRCA2, oligonucleotide/oligosaccharide-binding, domain 3
      pfam09169
      Location:24812667
      BRCA-2_helical; BRCA2, helical

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

      Range
      32315508..32400268
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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