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HUMAN:BRCA2
Contents
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 |
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 |
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 |
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 |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0051298 |
centrosome duplication |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0045893 |
positive regulation of transcription, DNA-templated |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0043967 |
histone H4 acetylation |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0043966 |
histone H3 acetylation |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
part_of |
GO:0032991 |
protein-containing complex |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
enables |
GO:0043015 |
gamma-tubulin binding |
ECO:0000353 |
physical interaction evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
involved_in |
GO:0033600 |
negative regulation of mammary gland epithelial cell proliferation |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
part_of |
GO:0033593 |
BRCA2-MAGE-D1 complex |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0030141 |
secretory granule |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
enables |
GO:0010485 |
H4 histone acetyltransferase activity |
ECO:0000314 |
direct assay evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
enables |
GO:0010484 |
H3 histone acetyltransferase activity |
ECO:0000314 |
direct assay evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
involved_in |
GO:0006302 |
double-strand break repair |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0006289 |
nucleotide-excision repair |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
part_of |
GO:0005813 |
centrosome |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0005813 |
centrosome |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0005634 |
nucleus |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0005634 |
nucleus |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0005634 |
nucleus |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
NOT|enables |
GO:0004402 |
histone acetyltransferase activity |
ECO:0000314 |
direct assay evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
enables |
GO:0003697 |
single-stranded DNA binding |
ECO:0000314 |
direct assay evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
enables |
GO:0002020 |
protease binding |
ECO:0000353 |
physical interaction evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
involved_in |
GO:0000281 |
mitotic cytokinesis |
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 |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
part_of |
GO:0005634 |
nucleus |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
FB:FBgn0050169 |
C |
Seeded From UniProt |
complete | ||
involved_in |
GO:0000724 |
double-strand break repair via homologous recombination |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
FB:FBgn0050169 |
P |
Seeded From UniProt |
complete | ||
part_of |
GO:0032991 |
protein-containing complex |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
enables |
GO:0008022 |
protein C-terminus binding |
ECO:0000314 |
direct assay evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
part_of |
GO:0000800 |
lateral element |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
enables |
GO:0042802 |
identical protein binding |
ECO:0000353 |
physical interaction evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
enables |
GO:0042802 |
identical protein binding |
ECO:0000353 |
physical interaction evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
part_of |
GO:0005829 |
cytosol |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
part_of |
GO:0005654 |
nucleoplasm |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
involved_in |
GO:0070200 |
establishment of protein localization to telomere |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97929 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0051276 |
chromosome organization |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97929 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0048478 |
replication fork protection |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97929 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0045931 |
positive regulation of mitotic cell cycle |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97929 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0043009 |
chordate embryonic development |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97929 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0042771 |
intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97929 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0032465 |
regulation of cytokinesis |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97929 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0030097 |
hemopoiesis |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97929 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0010332 |
response to gamma radiation |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97929 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0010225 |
response to UV-C |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97929 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0010165 |
response to X-ray |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97929 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0008630 |
intrinsic apoptotic signaling pathway in response to DNA damage |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97929 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0008585 |
female gonad development |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97929 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0008283 |
cell population proliferation |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97929 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0007569 |
cell aging |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97929 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0007420 |
brain development |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97929 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0007283 |
spermatogenesis |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97929 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0007141 |
male meiosis I |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97929 |
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 |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97929 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0006974 |
cellular response to DNA damage stimulus |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97929 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0006302 |
double-strand break repair |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97929 |
P |
Seeded From UniProt |
complete | ||
part_of |
GO:0005737 |
cytoplasm |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97929 |
C |
Seeded From UniProt |
complete | ||
part_of |
GO:0005634 |
nucleus |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97929 |
C |
Seeded From UniProt |
complete | ||
involved_in |
GO:0001833 |
inner cell mass cell proliferation |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97929 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0001556 |
oocyte maturation |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97929 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0000724 |
double-strand break repair via homologous recombination |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97929 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0000722 |
telomere maintenance via recombination |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:P97929 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0000724 |
double-strand break repair via homologous recombination |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0006281 |
DNA repair |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
part_of |
GO:0005654 |
nucleoplasm |
Reactome:R-HSA-5693620 |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
|
C |
Seeded From UniProt |
complete | |
involved_in |
GO:0006310 |
DNA recombination |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
part_of |
GO:0005737 |
cytoplasm |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
enables |
GO:0003677 |
DNA binding |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
involved_in |
GO:0007049 |
cell cycle |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
part_of |
GO:0005856 |
cytoskeleton |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
involved_in |
GO:0006974 |
cellular response to DNA damage stimulus |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
part_of |
GO:0005634 |
nucleus |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
involved_in |
GO:0006281 |
DNA repair |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
part_of |
GO:0005815 |
microtubule organizing center |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
Notes
References
See Help:References for how to manage references in GONUTS.
- ↑ 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
- ↑ 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
- ↑ 3.0 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
- ↑ Milner, J et al. (1997) Transcriptional activation functions in BRCA2. Nature 386 772-3 PubMed GONUTS page
- ↑ 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
- ↑ 6.0 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
- ↑ 7.0 7.1 Tian, XX et al. (2005) BRCA2 suppresses cell proliferation via stabilizing MAGE-D1. Cancer Res. 65 4747-53 PubMed GONUTS page
- ↑ Jensen, RA et al. (1996) BRCA1 is secreted and exhibits properties of a granin. Nat. Genet. 12 303-8 PubMed GONUTS page
- ↑ 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
- ↑ 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
- ↑ 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
- ↑ Fuks, F et al. (1998) BRCA2 associates with acetyltransferase activity when bound to P/CAF. Oncogene 17 2531-4 PubMed GONUTS page
- ↑ 13.0 13.1 Jensen, RB et al. (2010) Purified human BRCA2 stimulates RAD51-mediated recombination. Nature 467 678-83 PubMed GONUTS page
- ↑ 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
- ↑ 15.0 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
- ↑ 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
- ↑ 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
c
- Catarrhini
- GO:0007049 ! cell cycle
- GO:0008283 ! cell population proliferation
- GO:0005813 ! centrosome
- GO:0051298 ! centrosome duplication
- Chordata
- GO:0043009 ! chordate embryonic development
- GO:0051276 ! chromosome organization
- Craniata
- GO:0005737 ! cytoplasm
- GO:0005856 ! cytoskeleton
- GO:0005829 ! cytosol
d
- GO:0003677 ! DNA binding
- GO:0006974 ! DNA damage response
- GO:0006978 ! DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator
- GO:0006310 ! DNA recombination
- GO:0006281 ! DNA repair
- GO:0006302 ! double-strand break repair
- GO:0000724 ! double-strand break repair via homologous recombination
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