BRCA2
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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
BRCA2, DNA repair associated | MIM:600185 | Ensembl:ENSG00000139618 | HGNC:HGNC:1101 | PA25412 | 13q13.1 |
GO terms in BRCA2
Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
MF | IBA | GO:0002020 | protease binding |
MF | IPI | GO:0002020 | protease binding |
MF | IBA | GO:0003697 | single-stranded DNA binding |
MF | IDA | GO:0003697 | single-stranded DNA binding |
MF | IBA | GO:0004402 | histone acetyltransferase activity |
MF | IDA | GO:0004402 | histone acetyltransferase activity |
MF | IBA | GO:0005515 | protein binding |
MF | IPI | GO:0005515 | protein binding |
MF | IBA | GO:0008022 | protein C-terminus binding |
MF | IDA | GO:0008022 | protein C-terminus binding |
MF | IDA | GO:0010484 | H3 histone acetyltransferase activity |
MF | IDA | GO:0010485 | H4 histone acetyltransferase activity |
MF | IBA | GO:0042802 | identical protein binding |
MF | IPI | GO:0042802 | identical protein binding |
MF | IBA | GO:0043015 | gamma-tubulin binding |
MF | IPI | GO:0043015 | gamma-tubulin binding |
CC | IBA | GO:0000784 | nuclear chromosome, telomeric region |
CC | IDA | GO:0000784 | nuclear chromosome, telomeric region |
CC | IBA | GO:0000800 | lateral element |
CC | IDA | GO:0000800 | lateral element |
CC | IBA | GO:0005634 | nucleus |
CC | IDA | GO:0005634 | nucleus |
CC | IBA | GO:0005654 | nucleoplasm |
CC | IDA | GO:0005654 | nucleoplasm |
CC | TAS | GO:0005654 | nucleoplasm |
CC | IBA | GO:0005813 | centrosome |
CC | IDA | GO:0005813 | centrosome |
CC | IBA | GO:0005829 | cytosol |
CC | IDA | GO:0005829 | cytosol |
CC | IBA | GO:0030141 | secretory granule |
CC | IDA | GO:0030141 | secretory granule |
CC | IDA | GO:0032991 | protein-containing complex |
CC | IBA | GO:0033593 | BRCA2-MAGE-D1 complex |
CC | IDA | GO:0033593 | BRCA2-MAGE-D1 complex |
BP | IDA | GO:0000281 | mitotic cytokinesis |
BP | IBA | GO:0000722 | telomere maintenance via recombination |
BP | IEA | GO:0000722 | telomere maintenance via recombination |
BP | IBA | GO:0000724 | double-strand break repair via homologous recombination |
BP | IDA | GO:0000724 | double-strand break repair via homologous recombination |
BP | IMP | GO:0000724 | double-strand break repair via homologous recombination |
BP | IBA | GO:0001556 | oocyte maturation |
BP | IEA | GO:0001556 | oocyte maturation |
BP | IBA | GO:0001833 | inner cell mass cell proliferation |
BP | IEA | GO:0001833 | inner cell mass cell proliferation |
BP | IBA | GO:0006289 | nucleotide-excision repair |
BP | IMP | GO:0006289 | nucleotide-excision repair |
BP | IMP | GO:0006302 | double-strand break repair |
BP | IBA | GO:0006355 | regulation of transcription, DNA-templated |
BP | IBA | GO:0006978 | DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator |
BP | IEA | GO:0006978 | DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator |
BP | IBA | GO:0007141 | male meiosis I |
BP | IEA | GO:0007141 | male meiosis I |
BP | IBA | GO:0007283 | spermatogenesis |
BP | IEA | GO:0007283 | spermatogenesis |
BP | IBA | GO:0007420 | brain development |
BP | IEA | GO:0007420 | brain development |
BP | IEA | GO:0007569 | cell aging |
BP | IBA | GO:0007584 | response to nutrient |
BP | IBA | GO:0008585 | female gonad development |
BP | IEA | GO:0008585 | female gonad development |
BP | IBA | GO:0010165 | response to X-ray |
BP | IEA | GO:0010165 | response to X-ray |
BP | IBA | GO:0010225 | response to UV-C |
BP | IEA | GO:0010225 | response to UV-C |
BP | IBA | GO:0010332 | response to gamma radiation |
BP | IEA | GO:0010332 | response to gamma radiation |
BP | IBA | GO:0010778 | meiotic DNA repair synthesis involved in reciprocal meiotic recombination |
BP | IBA | GO:0030097 | hemopoiesis |
BP | IEA | GO:0030097 | hemopoiesis |
BP | IBA | GO:0030879 | mammary gland development |
BP | IBA | GO:0031619 | homologous chromosome orientation involved in meiotic metaphase I plate congression |
BP | IBA | GO:0032355 | response to estradiol |
BP | IBA | GO:0032465 | regulation of cytokinesis |
BP | IEA | GO:0032465 | regulation of cytokinesis |
BP | IBA | GO:0033600 | negative regulation of mammary gland epithelial cell proliferation |
BP | IDA | GO:0033600 | negative regulation of mammary gland epithelial cell proliferation |
BP | IBA | GO:0035264 | multicellular organism growth |
BP | IBA | GO:0042127 | regulation of cell proliferation |
BP | IBA | GO:0042771 | intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator |
BP | IEA | GO:0042771 | intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator |
BP | IBA | GO:0043150 | DNA synthesis involved in double-strand break repair via homologous recombination |
BP | IBA | GO:0043966 | histone H3 acetylation |
BP | IDA | GO:0043966 | histone H3 acetylation |
BP | IBA | GO:0043967 | histone H4 acetylation |
BP | IDA | GO:0043967 | histone H4 acetylation |
BP | IBA | GO:0045893 | positive regulation of transcription, DNA-templated |
BP | IDA | GO:0045893 | positive regulation of transcription, DNA-templated |
BP | IBA | GO:0045931 | positive regulation of mitotic cell cycle |
BP | IEA | GO:0045931 | positive regulation of mitotic cell cycle |
BP | IBA | GO:0048478 | replication fork protection |
BP | IEA | GO:0048478 | replication fork protection |
BP | IBA | GO:0051298 | centrosome duplication |
BP | IMP | GO:0051298 | centrosome duplication |
BP | IBA | GO:0051598 | meiotic recombination checkpoint |
BP | IBA | GO:0070200 | establishment of protein localization to telomere |
BP | IDA | GO:0070200 | establishment of protein localization to telomere |
BP | IBA | GO:1990426 | mitotic recombination-dependent replication fork processing |
BP | IMP | GO:1990426 | mitotic recombination-dependent replication fork processing |
Gene expression in normal tissue: BRCA2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in BRCA2
Database | Pathway ID | Pathway Des. |
---|---|---|
wikipathways | WP186 | Homologous recombination |
wikipathways | WP1984 | Integrated Breast Cancer Pathway |
wikipathways | WP2261 | Signaling Pathways in Glioblastoma |
pid | atr_pathway | ATR signaling pathway |
pid | deltanp63pathway | Validated transcriptional targets of deltaNp63 isoforms |
pid | fanconi_pathway | Fanconi anemia pathway |
pid | foxm1pathway | FOXM1 transcription factor network |
pid | p73pathway | p73 transcription factor network |
kegg | hsa03440 | Homologous recombination - Homo sapiens (human) |
kegg | hsa03460 | Fanconi anemia pathway - Homo sapiens (human) |
kegg | hsa05200 | Pathways in cancer - Homo sapiens (human) |
kegg | hsa05212 | Pancreatic cancer - Homo sapiens (human) |
kegg | hsa05224 | Breast cancer - Homo sapiens (human) |
biocarta | atrbrcapathway | role of brca1 brca2 and atr in cancer susceptibility |
reactome | R-HSA-1474165 | Reproduction |
reactome | R-HSA-1500620 | Meiosis |
reactome | R-HSA-1640170 | Cell Cycle |
reactome | R-HSA-5685942 | HDR through Homologous Recombination (HRR) |
reactome | R-HSA-5693532 | DNA Double-Strand Break Repair |
reactome | R-HSA-5693537 | Resolution of D-Loop Structures |
reactome | R-HSA-5693538 | Homology Directed Repair |
reactome | R-HSA-5693554 | Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) |
reactome | R-HSA-5693567 | HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA) |
reactome | R-HSA-5693568 | Resolution of D-loop Structures through Holliday Junction Intermediates |
reactome | R-HSA-5693579 | Homologous DNA Pairing and Strand Exchange |
reactome | R-HSA-5693616 | Presynaptic phase of homologous DNA pairing and strand exchange |
reactome | R-HSA-73894 | DNA Repair |
reactome | R-HSA-912446 | Meiotic recombination |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
---|---|---|
iGMDRD151 | CHM-1 | 7 |
iGMDRD433 | Lexibulin | 4 |
iGMDRD76 | Simvastatin | 2 |
iGMDRD126 | Tipifarnib | 3 |
iGMDRD420 | Leucascandrolide A | 6 |
iGMDRD889 | Compound 7d-cis | 3 |
iGMDRD670 | ML 210 | 3 |
iGMDRD779 | PRL-3 Inhibitor I | 2 |
iGMDRD974 | PD1 blockade | 1 |
iGMDRD639 | YK 4-279 | 4 |
iGMDRD466 | Chaetocin | 4 |
iGMDRD260 | FQI-2 | 7 |
iGMDRD171 | Pemetrexed | 2 |
iGMDRD187 | BRD9876 | 3 |
iGMDRD399 | Selumetinib | 2 |
iGMDRD74 | Idarubicin | 2 |
iGMDRD188 | Piperlongumine | 4 |
iGMDRD146 | Elesclomol | 1 |
iGMDRD190 | Nilotinib | 1 |
iGMDRD64 | Parbendazole | 3 |
iGMDRD369 | TGX-115 | 2 |
iGMDRD23 | Gossypol | 3 |
iGMDRD532 | Olaparib | 18 |
iGMDRD150 | RITA | 4 |
iGMDRD405 | PIK-75 | 2 |
iGMDRD583 | LDN 193189 | 1 |
iGMDRD50 | Cytarabine | 1 |
iGMDRD49 | Mitomycin | 1 |
iGMDRD341 | Triacsin c | 1 |
iGMDRD237 | ABT-751 | 6 |
iGMDRD383 | Cediranib | 1 |
iGMDRD123 | Isoevodiamine | 6 |
iGMDRD879 | chemotherapy | 4 |
iGMDRD945 | ML214 | 4 |
iGMDRD883 | CIL55A | 2 |
iGMDRD154 | NSC23766 | 2 |
iGMDRD137 | Indisulam | 7 |
iGMDRD121 | GMX1778 | 2 |
iGMDRD103 | SN-38 | 4 |
iGMDRD402 | AKT Inhibitor VIII | 1 |
iGMDRD288 | Carboplatin | 1 |
iGMDRD289 | Parthenolide | 2 |
iGMDRD705 | Nakiterpiosin | 8 |
iGMDRD105 | Triptolide | 1 |
iGMDRD871 | BRD6368 | 1 |
iGMDRD286 | Nsc 632839 | 6 |
iGMDRD552 | AZD-1775 | 2 |
iGMDRD263 | AACOCF3 | 3 |
iGMDRD1008 | SR-II-138A | 2 |
iGMDRD387 | CHIR-99021 | 3 |
iGMDRD971 | PARP inhibitor | 7 |
iGMDRD494 | Neopeltolide | 2 |
iGMDRD462 | OSI-906 (Linsitinib) | 1 |
iGMDRD446 | LY 2183240 | 3 |
iGMDRD193 | Fqi1 | 4 |
iGMDRD280 | CYTOCHALASIN B | 1 |
iGMDRD401 | Afatinib | 1 |
iGMDRD138 | PX 12 | 5 |
iGMDRD109 | Gefitinib | 1 |
iGMDRD255 | SB225002 | 2 |
iGMDRD802 | 4-methylfasudil | 3 |
iGMDRD782 | DC-45-A2 | 2 |
iGMDRD973 | PD1 Ab inhibitor | 1 |
iGMDRD309 | 17AAG | 1 |
iGMDRD441 | TW 37 | 3 |
iGMDRD100 | Zebularine | 3 |
iGMDRD577 | BIX01294 | 2 |
iGMDRD411 | Platinum Agent | 7 |
iGMDRD451 | Serdemetan | 4 |
iGMDRD486 | Tosedostat | 2 |
iGMDRD512 | nutlin 3 | 3 |
iGMDRD299 | ICL 670 | 1 |
iGMDRD160 | Cis-Platin | 3 |
iGMDRD345 | Compound 10b [PMID: 11504634] | 3 |
iGMDRD536 | PLX-4720 | 1 |
iGMDRD351 | GW843682X | 7 |
iGMDRD901 | ELCPK | 3 |
iGMDRD211 | (1S,3R)-RSL3 | 3 |
iGMDRD435 | BI-2536 | 2 |
iGMDRD479 | Veliparib | 2 |
iGMDRD434 | BMS-536924 | 8 |
iGMDRD62 | Platinum | 2 |
iGMDRD381 | Rucaparib | 2 |
iGMDRD504 | Obatoclax | 1 |
iGMDRD872 | BRD7137 | 1 |
iGMDRD414 | MST-312 | 1 |
iGMDRD246 | NPC26 | 3 |
iGMDRD505 | Pevonedistat | 6 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in BRCA2