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HUMAN:BRCA2

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Species (Taxon ID) Homo sapiens (Human). (9606)
Gene Name(s) BRCA2 (synonyms: FACD, FANCD1)
Protein Name(s) Breast cancer type 2 susceptibility protein

Fanconi anemia group D1 protein

External Links
UniProt P51587
EMBL X95152
X95153
X95154
X95155
X95156
X95157
X95158
X95159
X95160
X95161
X95162
X95163
X95164
X95165
X95166
X95167
X95168
X95169
X95170
X95171
X95172
X95173
X95174
X95175
X95176
X95177
U43746
AY436640
AL137247
AL445212
AL445212
AL137247
Z74739
Z73359
CCDS CCDS9344.1
PIR G02334
RefSeq NP_000050.2
UniGene Hs.34012
PDB 1N0W
3EU7
PDBsum 1N0W
3EU7
ProteinModelPortal P51587
SMR P51587
BioGrid 107142
DIP DIP-24214N
IntAct P51587
MINT MINT-1540184
STRING 9606.ENSP00000369497
PhosphoSite P51587
DMDM 14424438
MaxQB P51587
PaxDb P51587
PRIDE P51587
DNASU 675
Ensembl ENST00000380152
ENST00000544455
GeneID 675
KEGG hsa:675
UCSC uc001uub.1
CTD 675
GeneCards GC13P032889
GeneReviews BRCA2
HGNC HGNC:1101
HPA HPA026815
HPA056112
MIM 114480
227650
600185
605724
612555
613029
613347
neXtProt NX_P51587
Orphanet 1333
1331
84
145
227535
213524
319462
PharmGKB PA25412
eggNOG NOG331296
HOGENOM HOG000139693
HOVERGEN HBG050731
InParanoid P51587
KO K08775
OrthoDB EOG75TMB1
PhylomeDB P51587
TreeFam TF105041
Reactome REACT_18410
REACT_27271
REACT_408
SignaLink P51587
EvolutionaryTrace P51587
GeneWiki BRCA2
GenomeRNAi 675
NextBio 2780
PRO PR:P51587
Proteomes UP000005640
Bgee P51587
CleanEx HS_BRCA2
ExpressionAtlas P51587
Genevestigator P51587
GO GO:0033593
GO:0005813
GO:0005737
GO:0005654
GO:0005634
GO:0043234
GO:0030141
GO:0043015
GO:0010484
GO:0010485
GO:0002020
GO:0003697
GO:0007420
GO:0007569
GO:0051298
GO:0000910
GO:0006978
GO:0006281
GO:0006302
GO:0000724
GO:0008585
GO:0030097
GO:0043966
GO:0043967
GO:0001833
GO:0042771
GO:0007141
GO:0033600
GO:0006289
GO:0001556
GO:0045931
GO:0045893
GO:0032465
GO:0048478
GO:0010332
GO:0010225
GO:0010165
GO:0007283
Gene3D 2.40.50.140
InterPro IPR015525
IPR015252
IPR015187
IPR015188
IPR002093
IPR012340
IPR015205
PANTHER PTHR11289
Pfam PF09169
PF09103
PF09104
PF00634
PF09121
PIRSF PIRSF002397
SUPFAM SSF50249
SSF81872
PROSITE PS50138

Annotations

Qualifier GO ID GO term name Reference ECO ID ECO term name with/from Aspect Extension Notes Status

part_of

GO:0000784

nuclear chromosome, telomeric region

PMID:21076401[1]

ECO:0000314

direct assay evidence used in manual assertion

C

exists_during:(GO:0000084)

Seeded From UniProt

complete

involved_in

GO:1990426

mitotic recombination-dependent replication fork processing

PMID:21076401[1]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

occurs_in:(GO:0000784)

Seeded From UniProt

complete

involved_in

GO:0070200

establishment of protein localization to telomere

PMID:21076401[1]

ECO:0000314

direct assay evidence used in manual assertion

P

has_direct_input:(UniProtKB:Q06609)

Seeded From UniProt

complete

involved_in

GO:0000724

double-strand break repair via homologous recombination

PMID:21719596[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0051298

centrosome duplication

PMID:17286961[3]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0045893

positive regulation of transcription, DNA-templated

PMID:9126734[4]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0043967

histone H4 acetylation

PMID:9619837[5]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0043966

histone H3 acetylation

PMID:9619837[5]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0032991

protein-containing complex

PMID:9774970[6]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

enables

GO:0043015

gamma-tubulin binding

PMID:17286961[3]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:P23258

F

Seeded From UniProt

complete

involved_in

GO:0033600

negative regulation of mammary gland epithelial cell proliferation

PMID:15930293[7]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0033593

BRCA2-MAGE-D1 complex

PMID:15930293[7]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0030141

secretory granule

PMID:8589722[8]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

enables

GO:0010485

H4 histone acetyltransferase activity

PMID:9619837[5]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0010484

H3 histone acetyltransferase activity

PMID:9619837[5]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0006302

double-strand break repair

PMID:16845393[9]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0006289

nucleotide-excision repair

PMID:16845393[9]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0005813

centrosome

PMID:21276791[10]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005813

centrosome

PMID:17286961[3]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

PMID:9560268[11]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

PMID:17286961[3]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

PMID:9774970[6]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

NOT|enables

GO:0004402

histone acetyltransferase activity

PMID:9824164[12]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0003697

single-stranded DNA binding

PMID:20729832[13]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0002020

protease binding

PMID:15314155[14]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:P51784

F

Seeded From UniProt

complete

involved_in

GO:0000281

mitotic cytokinesis

PMID:17286961[3]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0000724

double-strand break repair via homologous recombination

PMID:20729832[13]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

PMID:21873635[15]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

FB:FBgn0050169
MGI:MGI:109337
PANTHER:PTN000139032
UniProtKB:P51587

C

Seeded From UniProt

complete

involved_in

GO:0000724

double-strand break repair via homologous recombination

PMID:21873635[15]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

FB:FBgn0050169
MGI:MGI:109337
PANTHER:PTN000139030
TAIR:locus:2149800
UniProtKB:P51587

P

Seeded From UniProt

complete

part_of

GO:0032991

protein-containing complex

PMID:9774970[6]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

enables

GO:0008022

protein C-terminus binding

PMID:9774970[6]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

part_of

GO:0000800

lateral element

PMID:9774970[6]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

enables

GO:0042802

identical protein binding

PMID:25282148[16]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:P51587

F

Seeded From UniProt

complete

enables

GO:0042802

identical protein binding

PMID:21601571[17]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:P51587

F

Seeded From UniProt

complete

part_of

GO:0005829

cytosol

GO_REF:0000052

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005654

nucleoplasm

GO_REF:0000052

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0070200

establishment of protein localization to telomere

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97929
ensembl:ENSMUSP00000038576

P

Seeded From UniProt

complete

involved_in

GO:0051276

chromosome organization

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97929
ensembl:ENSMUSP00000038576

P

Seeded From UniProt

complete

involved_in

GO:0048478

replication fork protection

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97929
ensembl:ENSMUSP00000038576

P

Seeded From UniProt

complete

involved_in

GO:0045931

positive regulation of mitotic cell cycle

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97929
ensembl:ENSMUSP00000038576

P

Seeded From UniProt

complete

involved_in

GO:0043009

chordate embryonic development

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97929
ensembl:ENSMUSP00000038576

P

Seeded From UniProt

complete

involved_in

GO:0042771

intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97929
ensembl:ENSMUSP00000038576

P

Seeded From UniProt

complete

involved_in

GO:0032465

regulation of cytokinesis

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97929
ensembl:ENSMUSP00000038576

P

Seeded From UniProt

complete

involved_in

GO:0030097

hemopoiesis

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97929
ensembl:ENSMUSP00000038576

P

Seeded From UniProt

complete

involved_in

GO:0010332

response to gamma radiation

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97929
ensembl:ENSMUSP00000038576

P

Seeded From UniProt

complete

involved_in

GO:0010225

response to UV-C

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97929
ensembl:ENSMUSP00000038576

P

Seeded From UniProt

complete

involved_in

GO:0010165

response to X-ray

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97929
ensembl:ENSMUSP00000038576

P

Seeded From UniProt

complete

involved_in

GO:0008630

intrinsic apoptotic signaling pathway in response to DNA damage

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97929
ensembl:ENSMUSP00000038576

P

Seeded From UniProt

complete

involved_in

GO:0008585

female gonad development

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97929
ensembl:ENSMUSP00000038576

P

Seeded From UniProt

complete

involved_in

GO:0008283

cell population proliferation

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97929
ensembl:ENSMUSP00000038576

P

Seeded From UniProt

complete

involved_in

GO:0007569

cell aging

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97929
ensembl:ENSMUSP00000038576

P

Seeded From UniProt

complete

involved_in

GO:0007420

brain development

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97929
ensembl:ENSMUSP00000038576

P

Seeded From UniProt

complete

involved_in

GO:0007283

spermatogenesis

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97929
ensembl:ENSMUSP00000038576

P

Seeded From UniProt

complete

involved_in

GO:0007141

male meiosis I

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97929
ensembl:ENSMUSP00000038576

P

Seeded From UniProt

complete

involved_in

GO:0006978

DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97929
ensembl:ENSMUSP00000038576

P

Seeded From UniProt

complete

involved_in

GO:0006974

cellular response to DNA damage stimulus

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97929
ensembl:ENSMUSP00000038576

P

Seeded From UniProt

complete

involved_in

GO:0006302

double-strand break repair

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97929
ensembl:ENSMUSP00000038576

P

Seeded From UniProt

complete

part_of

GO:0005737

cytoplasm

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97929
ensembl:ENSMUSP00000038576

C

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97929
ensembl:ENSMUSP00000038576

C

Seeded From UniProt

complete

involved_in

GO:0001833

inner cell mass cell proliferation

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97929
ensembl:ENSMUSP00000038576

P

Seeded From UniProt

complete

involved_in

GO:0001556

oocyte maturation

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97929
ensembl:ENSMUSP00000038576

P

Seeded From UniProt

complete

involved_in

GO:0000724

double-strand break repair via homologous recombination

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97929
ensembl:ENSMUSP00000038576

P

Seeded From UniProt

complete

involved_in

GO:0000722

telomere maintenance via recombination

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97929
ensembl:ENSMUSP00000038576

P

Seeded From UniProt

complete

involved_in

GO:0000724

double-strand break repair via homologous recombination

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR015187
InterPro:IPR015525

P

Seeded From UniProt

complete

involved_in

GO:0006281

DNA repair

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR015525

P

Seeded From UniProt

complete

part_of

GO:0005654

nucleoplasm

Reactome:R-HSA-5693620
Reactome:R-HSA-5693593
Reactome:R-HSA-5693589
Reactome:R-HSA-5693584
Reactome:R-HSA-5693561
Reactome:R-HSA-5693539
Reactome:R-HSA-5686483
Reactome:R-HSA-5686469
Reactome:R-HSA-5686440
Reactome:R-HSA-5686410
Reactome:R-HSA-5685838
Reactome:R-HSA-5685341
Reactome:R-HSA-5685242

ECO:0000304

author statement supported by traceable reference used in manual assertion













C

Seeded From UniProt

complete

involved_in

GO:0006310

DNA recombination

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0233

P

Seeded From UniProt

complete

part_of

GO:0005737

cytoplasm

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0963

C

Seeded From UniProt

complete

enables

GO:0003677

DNA binding

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0238

F

Seeded From UniProt

complete

involved_in

GO:0007049

cell cycle

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0131

P

Seeded From UniProt

complete

part_of

GO:0005856

cytoskeleton

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0206

C

Seeded From UniProt

complete

involved_in

GO:0006974

cellular response to DNA damage stimulus

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0227

P

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0539
UniProtKB-SubCell:SL-0191

C

Seeded From UniProt

complete

involved_in

GO:0006281

DNA repair

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0234

P

Seeded From UniProt

complete

part_of

GO:0005815

microtubule organizing center

GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-SubCell:SL-0048

C

Seeded From UniProt

complete

Notes

References

See Help:References for how to manage references in GONUTS.

  1. 1.0 1.1 1.2 Badie, S et al. (2010) BRCA2 acts as a RAD51 loader to facilitate telomere replication and capping. Nat. Struct. Mol. Biol. 17 1461-9 PubMed GONUTS page
  2. Biswas, K et al. (2011) A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay. Blood 118 2430-42 PubMed GONUTS page
  3. 3.0 3.1 3.2 3.3 3.4 Nakanishi, A et al. (2007) Interference with BRCA2, which localizes to the centrosome during S and early M phase, leads to abnormal nuclear division. Biochem. Biophys. Res. Commun. 355 34-40 PubMed GONUTS page
  4. Milner, J et al. (1997) Transcriptional activation functions in BRCA2. Nature 386 772-3 PubMed GONUTS page
  5. 5.0 5.1 5.2 5.3 Siddique, H et al. (1998) The BRCA2 is a histone acetyltransferase. Oncogene 16 2283-5 PubMed GONUTS page
  6. 6.0 6.1 6.2 6.3 6.4 Chen, J et al. (1998) Stable interaction between the products of the BRCA1 and BRCA2 tumor suppressor genes in mitotic and meiotic cells. Mol. Cell 2 317-28 PubMed GONUTS page
  7. 7.0 7.1 Tian, XX et al. (2005) BRCA2 suppresses cell proliferation via stabilizing MAGE-D1. Cancer Res. 65 4747-53 PubMed GONUTS page
  8. Jensen, RA et al. (1996) BRCA1 is secreted and exhibits properties of a granin. Nat. Genet. 12 303-8 PubMed GONUTS page
  9. 9.0 9.1 Cipak, L et al. (2006) The role of BRCA2 in replication-coupled DNA interstrand cross-link repair in vitro. Nat. Struct. Mol. Biol. 13 729-33 PubMed GONUTS page
  10. Cappelli, E et al. (2011) Homologous recombination proteins are associated with centrosomes and are required for mitotic stability. Exp. Cell Res. 317 1203-13 PubMed GONUTS page
  11. Chen, PL et al. (1998) The BRC repeats in BRCA2 are critical for RAD51 binding and resistance to methyl methanesulfonate treatment. Proc. Natl. Acad. Sci. U.S.A. 95 5287-92 PubMed GONUTS page
  12. Fuks, F et al. (1998) BRCA2 associates with acetyltransferase activity when bound to P/CAF. Oncogene 17 2531-4 PubMed GONUTS page
  13. 13.0 13.1 Jensen, RB et al. (2010) Purified human BRCA2 stimulates RAD51-mediated recombination. Nature 467 678-83 PubMed GONUTS page
  14. Schoenfeld, AR et al. (2004) BRCA2 is ubiquitinated in vivo and interacts with USP11, a deubiquitinating enzyme that exhibits prosurvival function in the cellular response to DNA damage. Mol. Cell. Biol. 24 7444-55 PubMed GONUTS page
  15. 15.0 15.1 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
  16. Shahid, T et al. (2014) Structure and mechanism of action of the BRCA2 breast cancer tumor suppressor. Nat. Struct. Mol. Biol. 21 962-968 PubMed GONUTS page
  17. Ochiai, K et al. (2011) Valine 1532 of human BRC repeat 4 plays an important role in the interaction between BRCA2 and RAD51. FEBS Lett. 585 1771-7 PubMed GONUTS page