BRCA2

GENE INFORMATION

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Gene name

BRCA2 (HGNC Symbol)

Synonyms

BRCC2, FACD, FAD, FAD1, FANCD, FANCD1

Description

Breast cancer 2, early onset (HGNC Symbol)

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]

Chromosome

13

Cytoband

q13.1

Chromosome location (bp)

32315474 - 32400266

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000139618 (version 78.38)

Entrez gene

675

UniProt

P51587 (UniProt - Evidence at protein level)

neXtProt

NX_P51587

Antibodypedia

BRCA2 antibodies
 

PROTEIN VIEW

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BRCA2-001
 
BRCA2-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

BRCA2-001 ENSP00000369497
ENST00000380152
P51587
Show all »
Show » Show » 3418 384.2 No 0
BRCA2-201 ENSP00000439902
ENST00000544455
P51587
Show all »
Show » Show » 3418 384.2 No 0