GenAge Human Genes Help Human Ageing Genomic Resources Citation

GenAge entry for BRCA2 (Homo sapiens)


Gene name (HAGRID: 0079)

HGNC symbolBRCA2
AliasesFANCD1; FACD; FANCD; FAD; FAD1; BRCC2
Common namebreast 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 [0475]. Although BRCA2's role in cancer is clear [1676], elucidating its role in human ageing will require additional studies.

Cytogenetic information

Cytogenetic band13q12.3
Location31,787,616 bp to 31,871,805 bp
OrientationPlus strand
Display region using the UCSC Genome Browser

Protein information

FunctionDNA repair, growth and development
Cellular locationnucleus
Expressionubiquitous
Gene Ontology

GO:0000724; double-strand break repair via homologous recombination; Process
GO:0001556; oocyte maturation; Process
GO:0001833; inner cell mass cell proliferation; Process
GO:0006310; DNA recombination; Process
GO:0006978; DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator; Process
GO:0007141; male meiosis I; Process
GO:0007283; spermatogenesis; Process
GO:0007420; brain development; Process
GO:0007569; cell aging; Process
GO:0007584; response to nutrient; Process
GO:0008585; female gonad development; Process
GO:0010165; response to X-ray; Process
GO:0010225; response to UV-C; Process
GO:0010332; response to gamma radiation; Process
GO:0030879; mammary gland development; Process
GO:0035264; multicellular organism growth; Process
GO:0042771; DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis; Process
GO:0043009; chordate embryonic development; Process
GO:0045931; positive regulation of mitotic cell cycle; Process
GO:0048478; replication fork protection; Process

GO:0003697; single-stranded DNA binding; Function

GO:0005737; cytoplasm; Cellular component

Protein-protein interactions

Interacting proteinsTP53, STAT5A, RAD51, BUB1B.
Display interactions using the IGD

Retrieve sequences for BRCA2

ORFORF
CDSCDS

Homologues in model organisms

P. troglodytesBRCA2 (breast cancer 2, early onset)
C. lupus familiarisBRCA2 (breast cancer 2, early onset)
M. musculusBrca2 (breast cancer 2)
R. norvegicusBrca2 (breast cancer 2)
G. gallusBRCA2 (breast cancer 2, early onset)
D. reriobrca2 (breast cancer 2, early onset)
A. thalianaBRCA2B (BRCA2B (breast cancer 2 like 2B))
A. thalianaBRCA2A (BRCA2A (breast cancer 2 like 2A, embryo sac development arrest 20, maternal effect embryo arrest 43))
O. sativaOs01g0164800 (hypothetical protein)
HomoloGene (41)

Selected references

[0475] Donoho et al. (2003), Deletion of Brca2 exon 27 causes hypersensitivity to DNA crosslinks, chromosomal instability, and reduced life span in mice, PubMed
[0489] Pellegrini et al. (2002), Insights into DNA recombination from the structure of a RAD51-BRCA2 complex, PubMed
[1679] Brown and Baltimore (2000), ATR disruption leads to chromosomal fragmentation and early embryonic lethality, PubMed
[0476] Lee et al. (1999), Mitotic checkpoint inactivation fosters transformation in cells lacking the breast cancer susceptibility gene, Brca2, PubMed
[0396] Fearon (1997), Human cancer syndromes: clues to the origin and nature of cancer, PubMed
[0478] Suzuki et al. (1997), Brca2 is required for embryonic cellular proliferation in the mouse, PubMed
[0477] Ludwig et al. (1997), Targeted mutations of breast cancer susceptibility gene homologs in mice: lethal phenotypes of Brca1, Brca2, Brca1/Brca2, Brca1/p53, and Brca2/p53 nullizygous embryos, PubMed
[1676] Wooster et al. (1995), Identification of the breast cancer susceptibility gene BRCA2, PubMed

Display PubMed References Associated with this GeneID; Search PubMed, Search Scirus, or Search Google Scholar

External links

EPD
ORF AccessionNM_000059
CDS AccessionNP_000050
OMIM600185
HPRD02554
EnsemblBRCA2
UniProt/Swiss-ProtBRCA2_HUMAN
GeneCardsBRCA2
Entrez Gene675
UniGene34012
GenAtlasBRCA2
InternetSearch Google


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