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BRCA2

GENERAL INFORMATION

Gene name

 BRCA2

Gene description

 Breast cancer 2, early onset

Protein class

 Cancer-related genes
Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 2
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Tissue enhanced (testis)
GTEx:Tissue enhanced (testis)
FANTOM5:Tissue enhanced (appendix, testis)

Protein evidence

 Evidence at protein level

Protein expression

 Estimation of protein expression could not be performed. View primary data.

DATA RELIABILITY

Data reliability
description

 RNA-based expert annotation gave inconclusive results. Antibody staining not consistent with RNA expression data.

Reliability score

 Uncertain based on 1 antibody.
HPA026815
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
N/A
Hippocampus
N/A
N/A
Caudate
N/A
N/A
Cerebellum
N/A
N/A
Endocrine tissues
N/A
Bone marrow & immune system
N/A
Appendix
N/A
Tonsil
N/A
Spleen
N/A
Muscle tissues
N/A
Lung
N/A
Nasopharynx
N/A
N/A
Bronchus
N/A
N/A
Lung
N/A
Liver & gallbladder
N/A
Liver
N/A
Pancreas
N/A
Pancreas
N/A
Gastrointestinal tract
N/A
Oral mucosa
N/A
N/A
Esophagus
N/A
Stomach
N/A
Duodenum
N/A
Colon
N/A
Rectum
N/A
Kidney & urinary bladder
N/A
Kidney
N/A
Male tissues
N/A
Testis
N/A
Prostate
N/A
Female tissues
N/A
Breast
N/A
Vagina
N/A
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Soft tissue
N/A
N/A
Skin
N/A
Skin
N/A
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Breast

PROTEIN EXPRESSION OVERVIEW
RNA-based expert annotation could not be performed, due to inconclusive results. View immunohistochemistry primary data.

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (testis)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (testis)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (appendix, testis)

GENE INFORMATION

Gene name

 BRCA2 (HGNC Symbol)

Synonyms

 BRCC2, FACD, FAD, FAD1, FANCD, FANCD1, XRCC11

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 83.38)

Entrez gene

 675

UniProt

 P51587 (UniProt - Evidence at protein level)

neXtProt

 NX_P51587

Antibodypedia

 BRCA2 antibodies

PROTEIN BROWSER
BRCA2-001
BRCA2-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
BRCA2-001
ENSP00000369497
ENST00000380152
P51587 [Direct mapping]
Breast cancer type 2 susceptibility protein
Show all
Predicted intracellular proteins
Cancer-related genes
   Candidate cancer biomarkers
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000724 [double-strand break repair via homologous recombination]
GO:0000910 [cytokinesis]
GO:0001556 [oocyte maturation]
GO:0001833 [inner cell mass cell proliferation]
GO:0002020 [protease binding]
GO:0003697 [single-stranded DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005813 [centrosome]
GO:0006281 [DNA repair]
GO:0006289 [nucleotide-excision repair]
GO:0006302 [double-strand break repair]
GO:0006310 [DNA recombination]
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:0007584 [response to nutrient]
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:0010484 [H3 histone acetyltransferase activity]
GO:0010485 [H4 histone acetyltransferase activity]
GO:0030097 [hemopoiesis]
GO:0030141 [secretory granule]
GO:0030879 [mammary gland development]
GO:0031052 [chromosome breakage]
GO:0031619 [homologous chromosome orientation involved in meiotic metaphase I plate congression]
GO:0032355 [response to estradiol]
GO:0032465 [regulation of cytokinesis]
GO:0033593 [BRCA2-MAGE-D1 complex]
GO:0033600 [negative regulation of mammary gland epithelial cell proliferation]
GO:0035264 [multicellular organism growth]
GO:0042771 [intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator]
GO:0043009 [chordate embryonic development]
GO:0043015 [gamma-tubulin binding]
GO:0043234 [protein complex]
GO:0043966 [histone H3 acetylation]
GO:0043967 [histone H4 acetylation]
GO:0045003 [double-strand break repair via synthesis-dependent strand annealing]
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]
Show all
 3418 aa
384.2 kDa 		No 0
BRCA2-201
ENSP00000439902
ENST00000544455
P51587 [Direct mapping]
Breast cancer type 2 susceptibility protein
Show all
Predicted intracellular proteins
Cancer-related genes
   Candidate cancer biomarkers
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000724 [double-strand break repair via homologous recombination]
GO:0000910 [cytokinesis]
GO:0002020 [protease binding]
GO:0003697 [single-stranded DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005813 [centrosome]
GO:0006281 [DNA repair]
GO:0006289 [nucleotide-excision repair]
GO:0006302 [double-strand break repair]
GO:0010484 [H3 histone acetyltransferase activity]
GO:0010485 [H4 histone acetyltransferase activity]
GO:0030141 [secretory granule]
GO:0033593 [BRCA2-MAGE-D1 complex]
GO:0033600 [negative regulation of mammary gland epithelial cell proliferation]
GO:0043015 [gamma-tubulin binding]
GO:0043234 [protein complex]
GO:0043966 [histone H3 acetylation]
GO:0043967 [histone H4 acetylation]
GO:0045003 [double-strand break repair via synthesis-dependent strand annealing]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0051276 [chromosome organization]
GO:0051298 [centrosome duplication]
Show all
 3418 aa
384.2 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.