Homo sapiens Gene: BRCA2
Summary
InnateDB Gene IDBG-22703.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BRCA2
Gene Name breast cancer 2, early onset
Synonyms BRCC2; BROVCA2; FACD; FAD; FAD1; FANCD; FANCD1; GLM3; PNCA2
Species Homo sapiens
Ensembl Gene ENSG00000139618
Encoded Proteins
breast cancer 2, early onset
breast cancer 2, early onset
breast cancer 2, early onset
breast cancer 2, early onset
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 13:32315474-32400266
Strand Forward strand
Band q13.1
Transcripts
ENST00000380152 ENSP00000369497
ENST00000470094 ENSP00000434898
ENST00000530893
ENST00000528762 ENSP00000433168
ENST00000533776
ENST00000544455 ENSP00000439902
ENST00000614259
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 118 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
Experimentally validated
Total 119 [view]
Protein-Protein 113 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 5 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 4 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0002020 protease binding
GO:0003697 single-stranded DNA binding
GO:0005515 protein binding
GO:0010484 H3 histone acetyltransferase activity
GO:0010485 H4 histone acetyltransferase activity
GO:0043015 gamma-tubulin binding
Biological Process
GO:0000724 double-strand break repair via homologous recombination
GO:0000910 cytokinesis
GO:0001556 oocyte maturation
GO:0001833 inner cell mass cell proliferation
GO:0006281 DNA repair
GO:0006289 nucleotide-excision repair
GO:0006302 double-strand break repair
GO:0006974 cellular response to DNA damage stimulus
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:0008283 cell proliferation
GO:0008585 female gonad development
GO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage
GO:0010165 response to X-ray
GO:0010225 response to UV-C
GO:0010332 response to gamma radiation
GO:0030097 hemopoiesis
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:0043009 chordate embryonic development
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:0051276 chromosome organization
GO:0051298 centrosome duplication
Cellular Component
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Fanconi Anemia pathway pathway
Presynaptic phase of homologous DNA pairing and strand exchange pathway
Homologous DNA pairing and strand exchange pathway
Meiotic recombination pathway
Homologous Recombination Repair pathway
Double-Strand Break Repair pathway
Cell Cycle pathway
Homologous recombination repair of replication-independent double-strand breaks pathway
Meiosis pathway
DNA Repair pathway
KEGG
Pancreatic cancer pathway
Homologous recombination pathway
Pathways in cancer pathway
INOH
PID NCI
Fanconi anemia pathway
p73 transcription factor network
ATR signaling pathway
Validated transcriptional targets of deltaNp63 isoforms
FOXM1 transcription factor network
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.34012
RefSeq NM_000059
HUGO
OMIM
CCDS CCDS9344
HPRD 02554
IMGT
EMBL
GenPept
RNA Seq Atlas