GenAge entry for BRCA2 (Homo sapiens)

Gene name (HAGRID: 79)

HGNC symbol
BRCA2 
Aliases
FAD; FAD1; BRCC2; XRCC11; FANCD1; FACD; FANCD 
Common name
breast cancer 2, early onset 

Potential relevance to the human ageing process

Main reason for selection
Entry selected based on evidence linking the gene product to a pathway or mechanism linked to ageing
Description

BRCA2 is an important protein in cellular responses to DNA damage and may be directly involved in DNA repair. Mice deficient for BRCA2 have a reduced lifespan, though it is not clear whether they age faster [475]. Cells from human patients with mutations in BRCA2 exhibited reduced rates of DNA repair and elevated levels of protein ADP-ribosylation. These patients demonstrate motor apraxia, axonal neuropathy, and progressive cerebellar ataxia. Deletion of PARP1 in BRCA2-null mice partially reversed some of these effects [4487]. Although BRCA2's role in cancer is clear [1676], elucidating its role in human ageing will require additional studies.

Cytogenetic information

Cytogenetic band
13q12.3
Location
32,315,480 bp to 32,399,672 bp
Orientation
Plus strand
Display region using the UCSC Genome Browser (GRCh38/hg38)

Protein information

Gene Ontology
Process: GO:0000722; telomere maintenance via recombination
GO:0000724; double-strand break repair via homologous recombination
GO:0000731; DNA synthesis involved in DNA repair
GO:0000732; strand displacement
GO:0000910; cytokinesis
GO:0001556; oocyte maturation
GO:0001833; inner cell mass cell proliferation
GO:0006289; nucleotide-excision repair
GO:0006302; double-strand break repair
GO:0006978; DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator
GO:0007141; male meiosis I
GO:0007283; spermatogenesis
GO:0007420; brain development
GO:0007569; cell aging
GO:0008585; female gonad development
GO:0010165; response to X-ray
GO:0010225; response to UV-C
GO:0010332; response to gamma radiation
GO:0030097; hemopoiesis
GO:0031052; chromosome breakage
GO:0032465; regulation of cytokinesis
GO:0033600; negative regulation of mammary gland epithelial cell proliferation
GO:0042771; intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator
GO:0043966; histone H3 acetylation
GO:0043967; histone H4 acetylation
GO:0045893; positive regulation of transcription, DNA-templated
GO:0045931; positive regulation of mitotic cell cycle
GO:0048478; replication fork protection
GO:0051298; centrosome duplication
GO:0070200; establishment of protein localization to telomere
GO:1990426; mitotic recombination-dependent replication fork processing
Cellular component: GO:0000784; nuclear chromosome, telomeric region
GO:0000800; lateral element
GO:0005634; nucleus
GO:0005654; nucleoplasm
GO:0005737; cytoplasm
GO:0005813; centrosome
GO:0030141; secretory granule
GO:0033593; BRCA2-MAGE-D1 complex
GO:0043234; protein complex
Function: GO:0002020; protease binding
GO:0003697; single-stranded DNA binding
GO:0004402; histone acetyltransferase activity
GO:0005515; protein binding
GO:0008022; protein C-terminus binding
GO:0010484; H3 histone acetyltransferase activity
GO:0010485; H4 histone acetyltransferase activity
GO:0043015; gamma-tubulin binding
Hide GO terms

Protein interactions and network

Protein-protein interacting partners in GenAge
TP53, ATM, STAT5A, BRCA1, RPA1, RAD51, PCNA, SP1, CCNA2, BUB1B, H2AFX, ATR, CHEK2
STRING interaction network
Protein-Protein network diagram for BRCA2

Retrieve sequences for BRCA2

ORF
ORF
CDS
CDS

Homologs in model organisms

Danio rerio
brca2
Mus musculus
Brca2
Rattus norvegicus
Brca2

Selected references

External links

EPD
ORF Accession
NM_000059
CDS Accession
NP_000050
OMIM
600185
HPRD
02554
Ensembl
BRCA2
UniProt/Swiss-Prot
BRCA2_HUMAN
GeneCards
BRCA2
Entrez Gene
675
UniGene
34012
GenAtlas
BRCA2
Internet
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