Format

Send to:

Choose Destination

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

Gene ID: 675, updated on 5-Jul-2020

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

Genomic context

See BRCA2 in Genome Data Viewer
Location:
13q13.1
Exon count:
27
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (32315508..32400268)
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 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
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
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

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
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 
identical protein binding IPI
Inferred from Physical Interaction
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
 
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 
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 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
 
regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
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 
cytosol 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 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 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 protein
truncated breast cancer 2

NCBI Reference Sequences (RefSeq)

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, ENST00000380152.7

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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)
Support Center