BRCA2 13:32889611-32973805

Forward strand gene: BRCA2, DNA repair associated

Formerly known as: FANCD1, FACD, FANCD

Also known as: ENSG00000139618, FAD, FAD1, BRCC2, XRCC11

Function: Involved in double-strand break repair and/or homologous recombination. Binds RAD51 and potentiates recombinational DNA repair by promoting assembly of RAD51 onto single-stranded DNA (ssDNA). Acts by targeting RAD51 to ssDNA over double-stranded DNA, enabling RAD51 to displace replication protein-A (RPA) from ssDNA and stabilizing RAD51-ssDNA filaments by blocking ATP hydrolysis. Part of a PALB2-scaffolded HR complex containing RAD51C and which is thought to play a role in DNA repair by HR. May participate in S phase checkpoint activation. Binds selectively to ssDNA, and to ssDNA in tailed duplexes and replication fork structures. May play a role in the extension step after strand invasion at replication-dependent DNA double-strand breaks; together with PALB2 is involved in both POLH localization at collapsed replication forks and DNA polymerization activity. In concert with NPM1, regulates centrosome duplication. Interacts with the TREX-2 complex (transcription and export complex 2) subunits PCID2 and SHFM1/DSS1, and is required to prevent R-loop-associated DNA damage and thus transcription-associated genomic instability. Silencing of BRCA2 promotes R-loop accumulation at actively transcribed genes in replicating and non-replicating cells, suggesting that BRCA2 mediates the control of R-loop associated genomic instability, independently of its known role in homologous recombination (PubMed:24896180). Source: UniProt

DECIPHER holds no open-access sequence variants in this gene

Name RefSeq Location Size Type Protein Exons
BRCA2-001 (ENST00000380152)
13:32889611-32973347
83.74 kb protein_coding 3418aa 27
BRCA2-201 (ENST00000544455) NM_000059
13:32889617-32973805
84.19 kb canonical protein_coding 3418aa 28
BRCA2-003 (ENST00000530893)
13:32889642-32907428
17.79 kb protein_coding 481aa 10
BRCA2-005 (ENST00000528762)
13:32945108-32953632
8.53 kb nonsense_mediated_decay 64aa 4
BRCA2-002 (ENST00000470094)
13:32953977-32972409
18.43 kb nonsense_mediated_decay 186aa 6
BRCA2-006 (ENST00000533776)
13:32970946-32972585
1.64 kb retained_intron 2