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BRCA2 breast cancer 2, early onset [ Homo sapiens (human) ]

Gene ID: 675, updated on 21-Jul-2014
Official Symbol
BRCA2provided by HGNC
Official Full Name
breast cancer 2, early onsetprovided by HGNC
Primary source
HGNC:1101
Locus tag
RP11-298P3.4
See related
Ensembl:ENSG00000139618; HPRD:02554; 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; 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]
See BRCA2 in Epigenomics, MapViewer
Location:
13q12.3
Exon count:
27
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 furry homolog (Drosophila) 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, aminophospholipid transporter, class I, type 8A, member 2 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
BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer Compare labs
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
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
Wilms' tumor
MedGen: C0027708 OMIM: 194070 GeneReviews: Aniridia, Wilms Tumor Overview
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

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

ISCA Genome Curation Page
Haploinsufficency

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

ISCA 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
  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • 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. These cellular mechanisms that must cope with the plethora of DNA base pair ad...
  • Double-Strand Break Repair, organism-specific biosystem (from REACTOME)
    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...
  • 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 REACTOME)
    Fanconi Anemia pathway, organism-specific biosystemFanconi anemia (FA) is a genetic disease of genome instability characterized by congenital skeletal defects, aplastic anemia, susceptibility to leukemias, and cellular sensitivity to DNA damaging age...
  • 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...
  • 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 ssDNA, followed by the association of RAD51 with BRCA2, formation of RAD52 heptameric ring...
  • Homologous Recombination Repair, organism-specific biosystem (from REACTOME)
    Homologous Recombination Repair, organism-specific biosystemThe HRR pathway is an "error free" DNA repair mechanism that utilizes information encoded by homologous sequence to repair double-strand breaks (DSBs). HRR acts on DSBs occurring within replicated DN...
  • 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, 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, 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...
  • Homologous recombination repair of replication-independent double-strand breaks, organism-specific biosystem (from REACTOME)
    Homologous recombination repair of replication-independent double-strand breaks, organism-specific biosystemHomologous recombination repair of replication-independent double-strand breaks requires the activation of ATM followed by ATM mediated phosphorylation of DNA repair proteins. DNA repair and signalin...
  • 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 begins with the displacement of RPA from ssDNA, followed by the association of RAD51 with BRCA2, formation of RAD52 heptameric ring...
  • 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 binding IPI
Inferred from Physical Interaction
more info
PubMed 
single-stranded DNA binding IDA
Inferred from Direct Assay
more info
 
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 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 
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 TAS
Traceable Author Statement
more info
 
double-strand break repair via homologous recombination IDA
Inferred from Direct Assay
more info
 
double-strand break repair via homologous recombination TAS
Traceable Author Statement
more info
 
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
 
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
 
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
 
NOT nucleolus IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
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
breast cancer type 2 susceptibility protein
Fanconi anemia group D1 protein
breast cancer 2 tumor suppressor
BRCA1/BRCA2-containing complex, subunit 2
breast and ovarian cancer susceptibility gene, early onset

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 

    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 proteins identical to 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
    pfam09169
    Location:24792667
    Blast Score: 950
    BRCA-2_helical; BRCA2, helical
    pfam00634
    Location:15171550
    Blast Score: 127
    BRCA2; BRCA2 repeat
    cd04493
    Location:26822794
    Blast Score: 394
    BRCA2DBD_OB1; BRCA2DBD_OB1: A subfamily of OB folds corresponding to the first OB fold (OB1) 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 ...
    cd04494
    Location:28043054
    Blast Score: 880
    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 ...
    cd04495
    Location:30733167
    Blast Score: 350
    BRCA2DBD_OB3; BRCA2DBD_OB3: A subfamily of OB folds corresponding to the third OB fold (OB3) 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 ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000013.11 

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

Alternate HuRef

Genomic

  1. AC_000145.1 

    Range
    13701252..13785592
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018924.2 

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