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--- a +++ b/GeneID_675.txt @@ -0,0 +1,1308 @@ +BRCA2 BRCA2 DNA repair associated[Homo sapiens] +Gene ID: 675, updated on 1-May-2023 + + +SUMMARY +------------------------------------------------------------------------------------------------- + +Official Symbol: BRCA2 (provided by HGNC) +Official full name: BRCA2 DNA repair associated (provided by HGNC) +Primary source: HGNC:HGNC:1101 +See related: Ensembl:ENSG00000139618; MIM:600185; AllianceGenome:HGNC:1101 +Gene type: protein coding +RefSeq status: REVIEWED +Organism: Homo sapiens + +Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; +Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo + +Also known as: FAD; FACD; FAD1; GLM3; BRCC2; FANCD; PNCA2; FANCD1; XRCC11; BROVCA2 + +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 largest exon in both genes is exon 11, +which harbors the most important and frequent mutations in breast cancer +patients. The BRCA2 gene was found on chromosome 13q12.3 in human. 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, May 2020] + +Orthologsall (/gene/?Term=ortholog_gene_675[group]), mouse (https://www.ncbi.nlm.nih.gov/gene/12190) + +GENOMIC CONTEXT +------------------------------------------------------------------------------------------------- + + +Location: 13q13.1 + +Annotation release Status Assembly Chromosome Location +------------------------------------------------------------------------------------------------- +RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (32315508..32400268) +RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (31532753..31617510) +105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (32889645..32974405) +Exont count: 28 + + +BIBLIOGRAPHY +------------------------------------------------------------------------------------------------- + + +Related Articles in PubMed + +1. BRCA2 gene mutation in cancer. Xie C, . Medicine (Baltimore), 2022 Nov 11, PMID +36397405., Free PMC Article(s): PMC9666215 +2. Characteristics of BRCA2 Mutated Prostate Cancer at Presentation. Han H, . Int J +Mol Sci, 2022 Nov 3, PMID 36362213., Free PMC Article(s): PMC9659116 +3. Emergence of BRCA Reversion Mutations in Patients with Metastatic +Castration-resistant Prostate Cancer After Treatment with Rucaparib. Loehr A, . +Eur Urol, 2023 Mar, PMID 36243543. +4. Analysis of BRCA2 Copy Number Loss and Genomic Instability in Circulating Tumor +Cells from Patients with Metastatic Castration-resistant Prostate Cancer. Barnett +ES, . Eur Urol, 2023 Feb, PMID 36123219. +5. Do Female BRCA2 Pathogenic Variant Carriers Have an Increased Risk of Lung +Cancer? Fallet V, . J Clin Oncol, 2022 Aug 1, PMID 35549390. +6. Divergent binding mode for a protozoan BRC repeat to RAD51. Pantelejevs T, . +Biochem J, 2022 May 27, PMID 35502837., Free PMC Article(s): PMC9162458 +<pre> +PHENOTYPES +------------------------------------------------------------------------------------------------- + +Review eQTL and phenotype association data in this region using PheGenI + http://www.ncbi.nlm.nih.gov/gap/PheGenI?chr=13&from=32315507&fromto=32315507+32400267&tab=0 + +Professional guidelines +------------------------------------------------------------------------------------------------- +Professional guideline + ACMG 2013 + The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in BRCA2 that are pathogenic or expected to be pathogenic. + + Guideline(http://www.acmg.net/docs/ACMG_Releases_Highly-Anticipated_Recommendations_on_Incidental_Findings_in_Clinical_Exome_and_Genome_Sequencing.pdf) + PubMed(/pubmed/23788249) +Associated conditions +------------------------------------------------------------------------------------------------- +Description Tests +------------------------------------------------------------------------------------------------- + +Breast-ovarian cancer, familial, susceptibility to, 2 + MedGen: C2675520 OMIM: 612555 GeneReviews: BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer +Discovery and refinement of loci associated with lipid levels. + GeneReviews: <span>Not available</span> +Familial cancer of breast + MedGen: C0346153 OMIM: 114480 GeneReviews: BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer +Fanconi anemia complementation group D1 + MedGen: C1838457 OMIM: 605724 GeneReviews: Wilms Tumor Predisposition, Fanconi Anemia, Esophageal Atresia/Tracheoesophageal Fistula Overview +Genome-wide association studies identify four ER negative-specific breast cancer risk loci. + GeneReviews: <span>Not available</span> +Glioma susceptibility 3 + MedGen: C2751641 OMIM: 613029 GeneReviews: <span>Not available</span> +Hereditary breast ovarian cancer syndrome + MedGen: C0677776 GeneReviews: BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer +Large-scale genotyping identifies 41 new loci associated with breast cancer risk. + GeneReviews: <span>Not available</span> +Malignant tumor of prostate + MedGen: C0376358 OMIM: 176807 GeneReviews: <span>Not available</span> +Medulloblastoma + MedGen: C0025149 OMIM: 155255 GeneReviews: <span>Not available</span> +Pancreatic cancer, susceptibility to, 2 + MedGen: C3150546 OMIM: 613347 GeneReviews: BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer +Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer. + GeneReviews: <span>Not available</span> +Wilms tumor 1 + MedGen: CN033288 OMIM: 194070 GeneReviews: Wilms Tumor Predisposition, PAX6-Related Aniridia, WT1 Disorder + +Copy number response +------------------------------------------------------------------------------------------------- +Copy number response + Haploinsufficency + Sufficient evidence for dosage pathogenicity (Last evaluated 2021-07-14) + + ClinGen Genome Curation Page(https://www.ncbi.nlm.nih.gov/projects/dbvar/ISCA/isca_gene.cgi?sym=BRCA2) + PubMed(/pubmed/11897832,12097290,12569143,16199546,17063271,25632310)Triplosensitivity + No evidence available (Last evaluated 2021-07-14) + + ClinGen Genome Curation Page(https://www.ncbi.nlm.nih.gov/projects/dbvar/ISCA/isca_gene.cgi?sym=BRCA2)</pre> + +VARIATION +------------------------------------------------------------------------------------------------- + +See variants in ClinVar, http://130.14.22.153/sites/gene/clinvar/?term=BRCA2[gene] +See studies and variants in dbVar, http://130.14.22.153/sites/gene +See Variation Viewer (GRCh37.p13), http://130.14.22.153/sites/gene/variation/view/?q=675[geneid]&assm=GCF_000001405.25 +See Variation Viewer (GRCh38), http://130.14.22.153/sites/gene/variation/view/?q=675[geneid]<pre/><pre> +Genotypes + See SNP Geneview Report, http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2FSNP%2Fsnp_ref.cgi%3FlocusId%3D675 + See 1000 Genomes Browser (GCF_000001405.25), http://130.14.22.153/sites/gene/variation/tools/1000genomes/?q=675[geneid]&assm=GCF_000001405.25</pre> + + +INTERACTION +------------------------------------------------------------------------------------------------- + +Description of Gene Interaction table + +Product Interactant Other Gene Complex Source Pubs +------------------------------------------------------------------------------------------------- + +BRCA1 interacts with BRCA2. +NP_000050.1 NP_009227.1 BRCA1 BIND PMID: 9774970 +FANCD2 interacts with BRCA2. +NP_000050.1 NP_149075.2 FANCD2 BIND PMID: 15115758 +FANCG interacts with BRCA2. +NP_000050.1 NP_004620.1 FANCG BIND PMID: 12915460 +BRCA2 interacts with hsFLNa. +NP_000050.1 NP_001447.1 FLNA BIND PMID: 11602572 +BRCA2 interacts with RAD51. +NP_000050.1 NP_002866.2 RAD51 BIND PMID: 9774970 +BRCA2 interacts with Rad51. +NP_000050.1 NP_597994.1 RAD51 BIND PMID: 9774970 +BRCA2 interacts with an unspecified isoform of RAD51. +NP_000050.1 RAD51 BIND PMID: 15800615 +SMAD3 interacts with BRCA2. +NP_000050.1 NP_005893.1 SMAD3 BIND PMID: 12165866 +CDK2/CCNA2 (CDK2-cyclinA) phosphorylates BRCA2. This interaction was modeled on a demonstrated interaction between CDK2/CCNA2 from an unspecified species and human BRCA2. +NP_000050.1 BIND PMID: 15800615 +P51587 Q9P287 BCCIP HPRD PMID: 11313963 +P51587 P38398 BRCA1 HPRD PMID: 11477095,9774970 +P51587 O60566 BUB1B HPRD PMID: 10749118 +P51587 P20248 CCNA2 HPRD PMID: 15800651 +P51587 P24864 CCNE1 HPRD PMID: 15800651 +P51587 P06493 CDK1 HPRD PMID: 15800651 +P51587 P24941 CDK2 HPRD PMID: 15800651,15800615 +P51587 Q8N1V2 CFAP52 HPRD PMID: 15967112 +P51587 Q7Z589 EMSY HPRD PMID: 14651845 +P51587 Q9BXW9 FANCD2 HPRD PMID: 15115758 +P51587 Q9HB96 FANCE HPRD PMID: 15199141 +P51587 O15287 FANCG HPRD PMID: 16621732,12915460 +P51587 P21333 FLNA HPRD PMID: 11602572 +P51587 Q9P0W2 HMG20B HPRD PMID: 11207365 +P51587 Q92831 KAT2B HPRD PMID: 9824164 +P51587 Q86YC2 PALB2 HPRD PMID: 16793542 +P51587 P53350 PLK1 HPRD PMID: 12815053 +P51587 Q06609 RAD51 HPRD PMID: 15800651,15800615,15065660,12619154,11477095,10551859,9560268,9523196,9405383,9126738 +P51587 P27694 RPA1 HPRD PMID: 12527904 +P51587 P60896 SEM1 HPRD PMID: 12228710,10373512 +P51587 P84022 SMAD3 HPRD PMID: 12165866 +P51587 P42229 STAT5A HPRD PMID: 12459499 +P51587 P04637 TP53 HPRD PMID: 9811893 +Affinity Capture-MS +BioGRID:107142 BioGRID:123290 AARSD1 BioGRID PMID: 33961781,28514442 +Affinity Capture-MS +BioGRID:107142 BioGRID:106683 AGA BioGRID PMID: 27433848 +Proximity Label-MS +BioGRID:107142 BioGRID:118937 ANAPC2 BioGRID PMID: 34079125 +Negative Genetic; Proximity Label-MS +BioGRID:107142 BioGRID:106825 APEX1 BioGRID PMID: 34079125,28319085 +Affinity Capture-MS +BioGRID:107142 BioGRID:137464 AQP7P3 BioGRID PMID: 27433848 +Proximity Label-MS +BioGRID:107142 BioGRID:117368 ASF1A BioGRID PMID: 34079125 +Proximity Label-MS +BioGRID:107142 BioGRID:114528 ASH2L BioGRID PMID: 34079125 +Affinity Capture-MS +BioGRID:107142 BioGRID:128104 ASXL1 BioGRID PMID: 32683582 +Reconstituted Complex +BioGRID:107142 BioGRID:106962 ATM BioGRID PMID: 15199141 +Protein-peptide +BioGRID:107142 BioGRID:107027 ATR BioGRID PMID: 10608806 +Affinity Capture-Western +BioGRID:107142 BioGRID:114646 AURKB BioGRID PMID: 19176389 +Affinity Capture-MS; Affinity Capture-Western; Co-purification +BioGRID:107142 BioGRID:114946 BABAM2 BioGRID PMID: 14636569 +Affinity Capture-MS +BioGRID:107142 BioGRID:114906 BAG4 BioGRID PMID: 33961781,28514442 +Affinity Capture-Western; Co-purification; Reconstituted Complex +BioGRID:107142 BioGRID:107056 BARD1 BioGRID PMID: 19176389,17664283,16391231,14636569 +Affinity Capture-Western; Co-localization; Reconstituted Complex; Two-hybrid +BioGRID:107142 BioGRID:121161 BCCIP BioGRID PMID: 15713648,11313963 +Affinity Capture-MS +BioGRID:107142 BioGRID:120155 BNC2 BioGRID PMID: 27433848 +Affinity Capture-MS +BioGRID:107142 BioGRID:610381 BORCS8 BioGRID PMID: 33961781 +Affinity Capture-MS +BioGRID:107142 BioGRID:127251 BPIFB4 BioGRID PMID: 27433848 +Negative Genetic +BioGRID:107142 BioGRID:107141 BRAF BioGRID PMID: 28319113 +Affinity Capture-MS; Affinity Capture-Western; Co-purification; Proximity Label-MS; Reconstituted Complex; Two-hybrid +BioGRID:107142 BioGRID:107140 BRCA1 BioGRID PMID: 34408138,29656893,25652403,25184681,24085845,21135251,19369211,17664283,14636569,14499622,11477095,9774970 +Affinity Capture-MS; Affinity Capture-Western; Co-localization; Reconstituted Complex +BioGRID:107142 BioGRID:107142 BRCA2 BioGRID PMID: 33978741,32609828,28168276,27433848 +Affinity Capture-MS; Affinity Capture-Western; Co-purification +BioGRID:107142 BioGRID:122599 BRCC3 BioGRID PMID: 17664283,14636569 +Affinity Capture-Western +BioGRID:107142 BioGRID:123841 BRIP1 BioGRID PMID: 17664283 +Affinity Capture-Western; Reconstituted Complex; Two-hybrid +BioGRID:107142 BioGRID:107166 BUB1B BioGRID PMID: 32286328,28985013,10749118 +Affinity Capture-MS +BioGRID:107142 BioGRID:122822 C11orf80 BioGRID PMID: 27433848 +Affinity Capture-MS +BioGRID:107142 BioGRID:126429 C6orf141 BioGRID PMID: 33961781,28514442 +Affinity Capture-MS +BioGRID:107142 BioGRID:123628 CABLES2 BioGRID PMID: 27433848 +Affinity Capture-MS +BioGRID:107142 BioGRID:116564 CARD8 BioGRID PMID: 26186194 +Affinity Capture-MS +BioGRID:107142 BioGRID:107297 CAT BioGRID PMID: 27433848 +Affinity Capture-MS +BioGRID:107142 BioGRID:127217 CCDC24 BioGRID PMID: 27433848 +Affinity Capture-MS +BioGRID:107142 BioGRID:129209 CCDC96 BioGRID PMID: 33961781 +Affinity Capture-Western; Reconstituted Complex +BioGRID:107142 BioGRID:114417 CCNA1 BioGRID PMID: 26387543 +Biochemical Activity +BioGRID:107142 BioGRID:107331 CCNA2 BioGRID PMID: 15800615 +Affinity Capture-Western +BioGRID:107142 BioGRID:107332 CCNB1 BioGRID PMID: 26387543 +Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex +BioGRID:107142 BioGRID:107067 CCND1 BioGRID PMID: 26387543,21654808 +Affinity Capture-MS +BioGRID:107142 BioGRID:127265 CCT8L2 BioGRID PMID: 33961781 +Affinity Capture-Western +BioGRID:107142 BioGRID:113915 CDC45 BioGRID PMID: 22293751 +Biochemical Activity +BioGRID:107142 BioGRID:107452 CDK2 BioGRID PMID: 26387543,24835992,15800615 +Negative Genetic +BioGRID:107142 BioGRID:107459 CDK9 BioGRID PMID: 28319113 +Affinity Capture-MS +BioGRID:107142 BioGRID:116359 CELF3 BioGRID PMID: 27433848 +Proximity Label-MS +BioGRID:107142 BioGRID:115018 CEP135 BioGRID PMID: 34079125 +Affinity Capture-MS +BioGRID:107142 BioGRID:129077 CFAP299 BioGRID PMID: 27433848 +Affinity Capture-Western +BioGRID:107142 BioGRID:127014 CFAP52 BioGRID PMID: 15967112 +Affinity Capture-MS +BioGRID:107142 BioGRID:109324 CFH BioGRID PMID: 27433848 +Biochemical Activity +BioGRID:107142 BioGRID:107536 CHEK1 BioGRID PMID: 18317453 +Affinity Capture-Western; Biochemical Activity; Protein-peptide +BioGRID:107142 BioGRID:116369 CHEK2 BioGRID PMID: 18317453,17525332,14623252 +Affinity Capture-MS +BioGRID:107142 BioGRID:126170 CHMP4B BioGRID PMID: 27433848 +Affinity Capture-MS +BioGRID:107142 BioGRID:126226 CLHC1 BioGRID PMID: 27433848 +Affinity Capture-MS +BioGRID:107142 BioGRID:115550 CNKSR1 BioGRID PMID: 33961781,28514442 +Affinity Capture-MS +BioGRID:107142 BioGRID:107698 COL11A1 BioGRID PMID: 27433848 +Affinity Capture-MS +BioGRID:107142 BioGRID:107799 CRYAA BioGRID PMID: 33961781 +Affinity Capture-MS +BioGRID:107142 BioGRID:119274 CRYL1 BioGRID PMID: 33961781 +Affinity Capture-Western +BioGRID:107142 BioGRID:120304 CT55 BioGRID PMID: 18307534 +Affinity Capture-MS +BioGRID:107142 BioGRID:108332 CTTN BioGRID PMID: 35271311 +Affinity Capture-MS +BioGRID:107142 BioGRID:126821 CWF19L2 BioGRID PMID: 27433848 +Affinity Capture-MS +BioGRID:107142 BioGRID:126069 DCST2 BioGRID PMID: 27433848 +Affinity Capture-MS +BioGRID:107142 BioGRID:114204 DDX3Y BioGRID PMID: 27433848 +Affinity Capture-MS +BioGRID:107142 BioGRID:127768 DGKH BioGRID PMID: 27433848 +Affinity Capture-MS; Affinity Capture-Western; Protein-peptide; Reconstituted Complex; Two-hybrid +BioGRID:107142 BioGRID:116316 DMC1 BioGRID PMID: 26976601,20729832,17541404 +Affinity Capture-MS +BioGRID:107142 BioGRID:108109 DNAH9 BioGRID PMID: 27433848 +Affinity Capture-MS +BioGRID:107142 BioGRID:113117 DNAJC7 BioGRID PMID: 35271311 +Affinity Capture-MS +BioGRID:107142 BioGRID:131762 DPPA3 BioGRID PMID: 33961781,27433848 +Affinity Capture-MS +BioGRID:107142 BioGRID:123045 DSN1 BioGRID PMID: 33961781,28514442,26186194 +Affinity Capture-MS +BioGRID:107142 BioGRID:123857 DTNBP1 BioGRID PMID: 26186194 +Affinity Capture-MS +BioGRID:107142 BioGRID:123321 DUSP16 BioGRID PMID: 33961781 +Affinity Capture-MS +BioGRID:107142 BioGRID:126791 DYDC1 BioGRID PMID: 27433848 +Affinity Capture-MS; Co-localization +BioGRID:107142 BioGRID:108117 DYNC1H1 BioGRID PMID: 27433848 +Affinity Capture-MS; Reconstituted Complex +BioGRID:107142 BioGRID:119327 DYNC1LI1 BioGRID PMID: 27433848 +Affinity Capture-MS; Reconstituted Complex +BioGRID:107142 BioGRID:108120 DYNC1LI2 BioGRID PMID: 27433848 +Affinity Capture-MS +BioGRID:107142 BioGRID:134421 EEF1AKMT2 BioGRID PMID: 33961781 +Affinity Capture-MS +BioGRID:107142 BioGRID:125185 EGLN3 BioGRID PMID: 26972000 +Affinity Capture-MS +BioGRID:107142 BioGRID:114407 EIF2B4 BioGRID PMID: 27433848 +Affinity Capture-Western; Reconstituted Complex; Two-hybrid +BioGRID:107142 BioGRID:121270 EMSY BioGRID PMID: 14651845 +Affinity Capture-Western; Reconstituted Complex +BioGRID:107142 BioGRID:108385 ERCC5 BioGRID PMID: 26833090 +Affinity Capture-MS; Affinity Capture-Western +BioGRID:107142 BioGRID:119971 ETAA1 BioGRID PMID: 27723720 +Affinity Capture-MS +BioGRID:107142 BioGRID:108455 F8 BioGRID PMID: 27433848 +Affinity Capture-MS; Affinity Capture-Western; Co-localization; Reconstituted Complex; Two-hybrid +BioGRID:107142 BioGRID:108474 FANCD2 BioGRID PMID: 31180492,28684355,20450923,19861535,18263878,18212739,15199141,15115758 +Affinity Capture-Western +BioGRID:107142 BioGRID:108475 FANCE BioGRID PMID: 15199141 +Affinity Capture-Western; Two-hybrid +BioGRID:107142 BioGRID:108484 FANCG BioGRID PMID: 20450923,18212739,16621732,12915460 +Two-hybrid +BioGRID:107142 BioGRID:120511 FANCI BioGRID PMID: 28684355 +Affinity Capture-MS +BioGRID:107142 BioGRID:128792 FBXL13 BioGRID PMID: 29348145 +Affinity Capture-MS +BioGRID:107142 BioGRID:115225 FIG4 BioGRID PMID: 27433848 +Affinity Capture-Western; Reconstituted Complex; Two-hybrid +BioGRID:107142 BioGRID:108605 FLNA BioGRID PMID: 11602572 +Affinity Capture-MS +BioGRID:107142 BioGRID:113921 FZD8 BioGRID PMID: 27433848 +Affinity Capture-MS +BioGRID:107142 BioGRID:129644 GOLGA6L2 BioGRID PMID: 33961781 +Affinity Capture-MS +BioGRID:107142 BioGRID:136572 GPR179 BioGRID PMID: 27433848 +Affinity Capture-MS +BioGRID:107142 BioGRID:123059 GREB1L BioGRID PMID: 27433848 +Affinity Capture-MS +BioGRID:107142 BioGRID:137113 GUSBP5 BioGRID PMID: 33961781 +Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex +BioGRID:107142 BioGRID:109268 H2AX BioGRID PMID: 20936109,18406329 +Proximity Label-MS +BioGRID:107142 BioGRID:109315 HDAC1 BioGRID PMID: 34709266 +Negative Genetic +BioGRID:107142 BioGRID:115330 HDAC6 BioGRID PMID: 28319113 +Affinity Capture-MS; Affinity Capture-Western; Co-localization; Co-purification; Reconstituted Complex +BioGRID:107142 BioGRID:115642 HMG20B BioGRID PMID: 25486196,21399666,12032298,11207365 +Protein-RNA +BioGRID:107142 BioGRID:109424 HNRNPC BioGRID PMID: 23585894 +Affinity Capture-MS +BioGRID:107142 BioGRID:127652 HSD17B7P2 BioGRID PMID: 33961781 +Affinity Capture-MS +BioGRID:107142 BioGRID:116260 HSF2BP BioGRID PMID: 33961781 +Affinity Capture-MS +BioGRID:107142 BioGRID:109552 HSP90AA1 BioGRID PMID: 35271311 +Affinity Capture-MS +BioGRID:107142 BioGRID:109558 HSP90AB1 BioGRID PMID: 35271311 +Affinity Capture-MS +BioGRID:107142 BioGRID:113036 HSP90B1 BioGRID PMID: 27433848 +Affinity Capture-MS +BioGRID:107142 BioGRID:109540 HSPA4 BioGRID PMID: 35271311 +Affinity Capture-MS +BioGRID:107142 BioGRID:117689 HSPB8 BioGRID PMID: 33961781,32707033,28514442 +Affinity Capture-MS +BioGRID:107142 BioGRID:114959 IER2 BioGRID PMID: 26186194 +Affinity Capture-Western; Reconstituted Complex +BioGRID:107142 BioGRID:114375 KAT2B BioGRID PMID: 28985013,12815053,9824164 +Proximity Label-MS +BioGRID:107142 BioGRID:116667 KDM1A BioGRID PMID: 34709266 +Negative Genetic +BioGRID:107142 BioGRID:113870 KDM5C BioGRID PMID: 28319113 +Affinity Capture-MS; Affinity Capture-Western +BioGRID:107142 BioGRID:115156 KEAP1 BioGRID PMID: 28416489,22331464 +Affinity Capture-Western +BioGRID:107142 BioGRID:117288 KIF4A BioGRID PMID: 18604178 +Affinity Capture-MS +BioGRID:107142 BioGRID:126278 KLHL40 BioGRID PMID: 33961781 +Affinity Capture-MS +BioGRID:107142 BioGRID:110047 KRT2 BioGRID PMID: 33961781 +Affinity Capture-MS +BioGRID:107142 BioGRID:114234 KRT38 BioGRID PMID: 33961781 +Affinity Capture-MS +BioGRID:107142 BioGRID:128199 KRT78 BioGRID PMID: 33961781 +Affinity Capture-MS +BioGRID:107142 BioGRID:117486 L3MBTL1 BioGRID PMID: 33961781,28514442 +Affinity Capture-Western; Reconstituted Complex; Two-hybrid +BioGRID:107142 BioGRID:114475 LIMD1 BioGRID PMID: 27656835 +Co-localization +BioGRID:107142 BioGRID:110186 LMNA BioGRID PMID: 30419336 +Affinity Capture-MS +BioGRID:107142 BioGRID:3193615 LOC101930047 BioGRID PMID: 27433848 +Affinity Capture-MS +BioGRID:107142 BioGRID:125700 LRRK2 BioGRID PMID: 27433848 +Proximity Label-MS +BioGRID:107142 BioGRID:124083 LZTS2 BioGRID PMID: 29395067 +Affinity Capture-MS +BioGRID:107142 BioGRID:110282 MAGEA9 BioGRID PMID: 33961781 +Two-hybrid +BioGRID:107142 BioGRID:114879 MAGED1 BioGRID PMID: 15930293 +Affinity Capture-MS +BioGRID:107142 BioGRID:111583 MAPK6 BioGRID PMID: 26972000 +Affinity Capture-Western; Co-localization +BioGRID:107142 BioGRID:122776 MCPH1 BioGRID PMID: 20107607,19549900 +Proximity Label-MS +BioGRID:107142 BioGRID:115014 MDC1 BioGRID PMID: 29656893 +Affinity Capture-MS +BioGRID:107142 BioGRID:119002 MDFIC BioGRID PMID: 27433848 +Affinity Capture-MS +BioGRID:107142 BioGRID:122938 MFSD13A BioGRID PMID: 27433848 +Affinity Capture-Western +BioGRID:107142 BioGRID:110411 MGMT BioGRID PMID: 19047179 +Affinity Capture-MS +BioGRID:107142 BioGRID:120019 MIER2 BioGRID PMID: 26186194 +Affinity Capture-MS +BioGRID:107142 BioGRID:110437 MLF1 BioGRID PMID: 33961781,28514442,26186194 +Affinity Capture-MS +BioGRID:107142 BioGRID:110462 MMP10 BioGRID PMID: 27433848 +Affinity Capture-MS; Affinity Capture-Western +BioGRID:107142 BioGRID:116134 MORF4L1 BioGRID PMID: 33961781,26186194,20332121 +Affinity Capture-MS +BioGRID:107142 BioGRID:115001 MORF4L2 BioGRID PMID: 33961781,28514442 +Affinity Capture-MS +BioGRID:107142 BioGRID:114558 MTMR6 BioGRID PMID: 27433848 +Affinity Capture-Western; Co-fractionation +BioGRID:107142 BioGRID:122884 MYH14 BioGRID PMID: 24448238 +Affinity Capture-MS +BioGRID:107142 BioGRID:124254 NAA11 BioGRID PMID: 33961781 +Affinity Capture-MS +BioGRID:107142 BioGRID:118913 NCAPH2 BioGRID PMID: 33961781,28514442 +Affinity Capture-MS +BioGRID:107142 BioGRID:131288 NCKAP5 BioGRID PMID: 27433848 +Proximity Label-MS +BioGRID:107142 BioGRID:110771 NCL BioGRID PMID: 30021884 +Protein-peptide +BioGRID:107142 BioGRID:110811 NEDD4 BioGRID PMID: 15001356 +Proximity Label-MS +BioGRID:107142 BioGRID:119372 NIN BioGRID PMID: 28718761 +Proximity Label-MS +BioGRID:107142 BioGRID:116630 NINL BioGRID PMID: 28718761 +Affinity Capture-MS; Affinity Capture-Western +BioGRID:107142 BioGRID:110929 NPM1 BioGRID PMID: 21084279 +Positive Genetic +BioGRID:107142 BioGRID:110942 NPR2 BioGRID PMID: 28319085 +Positive Genetic +BioGRID:107142 BioGRID:111532 NPY4R BioGRID PMID: 28319085 +Affinity Capture-MS +BioGRID:107142 BioGRID:117433 NSL1 BioGRID PMID: 26186194 +Affinity Capture-MS +BioGRID:107142 BioGRID:120147 NSMCE4A BioGRID PMID: 33961781,28514442,26186194 +Affinity Capture-MS +BioGRID:107142 BioGRID:111033 OPRM1 BioGRID PMID: 27433848 +Affinity Capture-MS; Affinity Capture-Western; Co-crystal Structure; Protein-peptide; Reconstituted Complex +BioGRID:107142 BioGRID:122843 PALB2 BioGRID PMID: 34591612,33961781,28765325,28398198,28319063,28240985,26990772,26833090,26649820,25016020,24835992,24141787,23585894,23038782,22331464,22293751,22193777,21466675,20871615,20332121,19609323,19584259,19553677,19369211,19268590,17200672,16793542 +Synthetic Lethality +BioGRID:107142 BioGRID:106652 PARP1 BioGRID PMID: 28628639,27453043 +Synthetic Lethality +BioGRID:107142 BioGRID:115350 PARP2 BioGRID PMID: 28628639 +Affinity Capture-Western +BioGRID:107142 BioGRID:111142 PCNA BioGRID PMID: 22293751 +Affinity Capture-Western; Reconstituted Complex; Two-hybrid +BioGRID:107142 BioGRID:116685 PDS5B BioGRID PMID: 27924011,22293751 +Proximity Label-MS +BioGRID:107142 BioGRID:119468 PHF21A BioGRID PMID: 34709266 +Negative Genetic +BioGRID:107142 BioGRID:111330 PKLR BioGRID PMID: 28319085 +Affinity Capture-Western; Co-fractionation; Reconstituted Complex +BioGRID:107142 BioGRID:111355 PLEC BioGRID PMID: 19709076 +Affinity Capture-Western; Biochemical Activity; Co-crystal Structure; Far Western; Reconstituted Complex +BioGRID:107142 BioGRID:111362 PLK1 BioGRID PMID: 32286328,28985013,24835992,24448238,14647413,12815053 +Affinity Capture-Western +BioGRID:107142 BioGRID:111391 PMS1 BioGRID PMID: 17148452 +Affinity Capture-MS +BioGRID:107142 BioGRID:111404 PMS2 BioGRID PMID: 17148452 +Affinity Capture-MS +BioGRID:107142 BioGRID:124398 PNMA6A BioGRID PMID: 33961781 +Affinity Capture-Western; Co-localization; Reconstituted Complex +BioGRID:107142 BioGRID:111425 POLH BioGRID PMID: 24485656 +Affinity Capture-MS +BioGRID:107142 BioGRID:131695 POLN BioGRID PMID: 26269593 +Proximity Label-MS +BioGRID:107142 BioGRID:122173 POLR1E BioGRID PMID: 34079125 +Affinity Capture-Western +BioGRID:107142 BioGRID:111426 POLR2A BioGRID PMID: 29386125 +Affinity Capture-MS +BioGRID:107142 BioGRID:117979 PPA2 BioGRID PMID: 27433848 +Affinity Capture-MS +BioGRID:107142 BioGRID:116515 PPM1E BioGRID PMID: 33961781,28514442 +Affinity Capture-MS +BioGRID:107142 BioGRID:116054 PPP1R17 BioGRID PMID: 27433848 +Affinity Capture-Western +BioGRID:107142 BioGRID:111507 PPP2CA BioGRID PMID: 28985013 +Affinity Capture-MS +BioGRID:107142 BioGRID:120646 PPP4R1L BioGRID PMID: 33961781 +Affinity Capture-MS +BioGRID:107142 BioGRID:127516 PRELID2 BioGRID PMID: 33961781 +Affinity Capture-Western +BioGRID:107142 BioGRID:111682 PSMD3 BioGRID PMID: 17563742 +Affinity Capture-Western +BioGRID:107142 BioGRID:115195 PSMD6 BioGRID PMID: 17563742 +Affinity Capture-MS +BioGRID:107142 BioGRID:115952 PTGES3 BioGRID PMID: 33961781 +Affinity Capture-Western +BioGRID:107142 BioGRID:111516 PTPA BioGRID PMID: 32286328 +Affinity Capture-MS +BioGRID:107142 BioGRID:111795 PYGM BioGRID PMID: 27433848 +Affinity Capture-Western; Co-fractionation +BioGRID:107142 BioGRID:231454 Palb2 BioGRID PMID: 25016020 +Affinity Capture-MS +BioGRID:107142 BioGRID:116330 RABL2A BioGRID PMID: 28514442,26186194 +Affinity Capture-Western +BioGRID:107142 BioGRID:111822 RAD21 BioGRID PMID: 22293751 +Affinity Capture-MS +BioGRID:107142 BioGRID:111823 RAD23A BioGRID PMID: 16712842 +Affinity Capture-Western +BioGRID:107142 BioGRID:115417 RAD50 BioGRID PMID: 20010693 +Affinity Capture-MS; Affinity Capture-Western; Co-crystal Structure; Co-localization; Co-purification; Protein-peptide; Reconstituted Complex; Two-hybrid +BioGRID:107142 BioGRID:111825 RAD51 BioGRID PMID: 35061896,33476590,31113933,28765325,28757209,28168276,27941124,26833090,26387543,26145171,25585578,24981860,24835992,24013206,23935068,22293751,21789034,21670257,21601571,21399666,21076401,20871615,20729859,20729832,19875419,19303847,18429819,18317453,17541404,17515904,17515903,16914443,16793542,16513631,15937124,15897881,15800615,15713648,15671039,15065660,14636569,14580352,12941707,12815053,12606939,12442171,11477095,11313963,11239456,10551859,9811893,9774970,9560268,9523196,9405383,9126738 +Affinity Capture-MS; Affinity Capture-Western +BioGRID:107142 BioGRID:111826 RAD51C BioGRID PMID: 24141787 +Phenotypic Enhancement +BioGRID:107142 BioGRID:111830 RAD52 BioGRID PMID: 31799622 +Proximity Label-MS +BioGRID:107142 BioGRID:116796 RCOR1 BioGRID PMID: 34709266 +Synthetic Growth Defect +BioGRID:107142 BioGRID:114797 RECQL5 BioGRID PMID: 24418621 +Affinity Capture-MS +BioGRID:107142 BioGRID:121661 RELCH BioGRID PMID: 27433848 +Affinity Capture-MS +BioGRID:107142 BioGRID:114180 RFXANK BioGRID PMID: 28514442 +Affinity Capture-Western; Co-localization; Protein-peptide; Reconstituted Complex +BioGRID:107142 BioGRID:115789 RNASEH2A BioGRID PMID: 30560944 +Affinity Capture-Western +BioGRID:107142 BioGRID:127922 RNF168 BioGRID PMID: 28240985 +Affinity Capture-MS; Affinity Capture-Western +BioGRID:107142 BioGRID:114860 ROCK2 BioGRID PMID: 21084279 +Affinity Capture-Western; Reconstituted Complex +BioGRID:107142 BioGRID:112037 RPA1 BioGRID PMID: 12527904 +Co-localization +BioGRID:107142 BioGRID:112038 RPA2 BioGRID PMID: 25113031 +Affinity Capture-MS +BioGRID:107142 BioGRID:116566 RUFY3 BioGRID PMID: 27433848 +Two-hybrid +BioGRID:107142 BioGRID:202564 Rad51 BioGRID PMID: 9126738 +Affinity Capture-MS +BioGRID:107142 BioGRID:131928 SAXO5 BioGRID PMID: 33961781,28514442 +Affinity Capture-MS +BioGRID:107142 BioGRID:119334 SDF4 BioGRID PMID: 26186194 +Affinity Capture-MS; Affinity Capture-Western; Co-crystal Structure; Co-purification; Reconstituted Complex; Two-hybrid +BioGRID:107142 BioGRID:113692 SEM1 BioGRID PMID: 33978741,32609828,28976962,26833090,26145171,16239144,16205630,12228710,10373512 +Reconstituted Complex +BioGRID:107142 BioGRID:107318 SERPINH1 BioGRID PMID: 19578754 +Affinity Capture-MS +BioGRID:107142 BioGRID:119171 SHANK1 BioGRID PMID: 27433848 +Affinity Capture-MS +BioGRID:107142 BioGRID:120024 SHLD2 BioGRID PMID: 27433848 +Affinity Capture-MS +BioGRID:107142 BioGRID:127380 SLC16A14 BioGRID PMID: 27433848 +Affinity Capture-MS +BioGRID:107142 BioGRID:118182 SLCO1B3 BioGRID PMID: 27433848 +Affinity Capture-Western +BioGRID:107142 BioGRID:110262 SMAD2 BioGRID PMID: 12165866 +Affinity Capture-Western; Reconstituted Complex +BioGRID:107142 BioGRID:110263 SMAD3 BioGRID PMID: 12165866 +Negative Genetic +BioGRID:107142 BioGRID:112482 SMARCB1 BioGRID PMID: 28319113 +Affinity Capture-Western +BioGRID:107142 BioGRID:114574 SMC3 BioGRID PMID: 22293751 +Affinity Capture-MS +BioGRID:107142 BioGRID:129016 SNX32 BioGRID PMID: 33961781,28514442 +Affinity Capture-MS +BioGRID:107142 BioGRID:121852 SNX6 BioGRID PMID: 33961781 +Affinity Capture-Western +BioGRID:107142 BioGRID:112550 SP1 BioGRID PMID: 18769160 +Affinity Capture-MS +BioGRID:107142 BioGRID:119032 SPANXA1 BioGRID PMID: 33961781,28514442 +Negative Genetic +BioGRID:107142 BioGRID:121208 SPHK2 BioGRID PMID: 28319085 +Affinity Capture-Western +BioGRID:107142 BioGRID:112653 STAT5A BioGRID PMID: 12459499 +Affinity Capture-MS +BioGRID:107142 BioGRID:118941 STRN4 BioGRID PMID: 27433848 +Affinity Capture-MS +BioGRID:107142 BioGRID:114042 SUPT3H BioGRID PMID: 27433848 +Proximity Label-MS +BioGRID:107142 BioGRID:127775 SYNE3 BioGRID PMID: 34079125 +Affinity Capture-MS +BioGRID:107142 BioGRID:112870 TEP1 BioGRID PMID: 27433848 +Proximity Label-MS +BioGRID:107142 BioGRID:119942 TERF2IP BioGRID PMID: 34079125 +Affinity Capture-MS +BioGRID:107142 BioGRID:112874 TERT BioGRID PMID: 27433848 +Affinity Capture-MS +BioGRID:107142 BioGRID:117460 TIPARP BioGRID PMID: 35439318 +Synthetic Lethality +BioGRID:107142 BioGRID:113003 TOP1 BioGRID PMID: 27453043 +Synthetic Lethality +BioGRID:107142 BioGRID:113006 TOP2A BioGRID PMID: 27453043 +Synthetic Lethality +BioGRID:107142 BioGRID:113009 TOP3A BioGRID PMID: 27453043 +Affinity Capture-MS; Affinity Capture-Western; Co-purification; Proximity Label-MS; Reconstituted Complex +BioGRID:107142 BioGRID:113010 TP53 BioGRID PMID: 34795231,32807901,20421506,14636569,9811893 +Proximity Label-MS; Reconstituted Complex +BioGRID:107142 BioGRID:113011 TP53BP1 BioGRID PMID: 29656893,20010693 +Negative Genetic +BioGRID:107142 BioGRID:113029 TPSAB1 BioGRID PMID: 28319085 +Affinity Capture-MS +BioGRID:107142 BioGRID:117177 TRIM29 BioGRID PMID: 26095369 +Affinity Capture-MS +BioGRID:107142 BioGRID:124301 TRIM52 BioGRID PMID: 33961781 +Affinity Capture-MS +BioGRID:107142 BioGRID:129021 TSGA10IP BioGRID PMID: 33961781 +Affinity Capture-MS +BioGRID:107142 BioGRID:114036 TTF2 BioGRID PMID: 27433848 +Negative Genetic +BioGRID:107142 BioGRID:113148 TYK2 BioGRID PMID: 28319085 +Co-localization +BioGRID:107142 BioGRID:119697 UIMC1 BioGRID PMID: 29499138 +Affinity Capture-MS +BioGRID:107142 BioGRID:113224 UPP1 BioGRID PMID: 33961781 +Reconstituted Complex +BioGRID:107142 BioGRID:120536 UQCC1 BioGRID PMID: 19578754 +Affinity Capture-MS; Affinity Capture-Western; Biochemical Activity +BioGRID:107142 BioGRID:113866 USP11 BioGRID PMID: 15314155 +Affinity Capture-Western; Biochemical Activity +BioGRID:107142 BioGRID:117950 USP21 BioGRID PMID: 28743957 +Affinity Capture-MS +BioGRID:107142 BioGRID:115073 UTP14C BioGRID PMID: 27433848 +Affinity Capture-RNA +BioGRID:107142 BioGRID:117452 VIRMA BioGRID PMID: 29507755 +Affinity Capture-MS +BioGRID:107142 BioGRID:119341 VPS28 BioGRID PMID: 26186194 +Affinity Capture-Western; Reconstituted Complex +BioGRID:107142 BioGRID:125985 WTIP BioGRID PMID: 27535760 +Reconstituted Complex +BioGRID:107142 BioGRID:113348 XPO1 BioGRID PMID: 24013206 +Affinity Capture-MS; Affinity Capture-Western +BioGRID:107142 BioGRID:113351 XRCC3 BioGRID PMID: 26496610,20450923,18212739,16621732 +Affinity Capture-MS +BioGRID:107142 BioGRID:124306 ZNF503 BioGRID PMID: 27433848 +Affinity Capture-MS +BioGRID:107142 BioGRID:130290 ZNF707 BioGRID PMID: 27433848 +Affinity Capture-MS +BioGRID:107142 BioGRID:136714 ZYG11A BioGRID PMID: 27433848 +Reconstituted Complex +BioGRID:107142 BioGRID:98493 rad51.L BioGRID PMID: 21719678 + +GENERAL GENE INFO +------------------------------------------------------------------------------------------------- + +Marker + PMC13918P2 (e-PCR) Links:UniSTS:270878 + PMC13918P3 (e-PCR) Links:UniSTS:270879 + PMC13918P4 (e-PCR) Links:UniSTS:270880 + PMC13918P5 (e-PCR) Links:UniSTS:270881 + PMC13918P6 (e-PCR) Links:UniSTS:270882 + D13S1788 (e-PCR) Links:UniSTS:474668 + STS-X95157 (e-PCR) Links:UniSTS:27960 + REN34178 (e-PCR) Links:UniSTS:358978 + PMC23830P1 (e-PCR) Links:UniSTS:272209 + G48219 (e-PCR) Links:UniSTS:95316 + STS-X95152 (e-PCR) Links:UniSTS:50804 + PMC310899P14 (e-PCR) Links:UniSTS:272803 + RH68440 (e-PCR) Links:UniSTS:34471 + BRCA2 (e-PCR) Links:UniSTS:505289 + SHGC-81356 (e-PCR) Links:UniSTS:103159 + + +Homology + Homologs of the BRCA2 gene + The BRCA2 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, and chicken. + Orthologs from Annotation Pipeline (/gene/?Term=ortholog_gene_675[group]): + Orthologs + +Gene Ontology Provided by GOA (www.ebi.ac.uk/GOA) + +Function GO ID Evidence +------------------------------------------------------------------------------------------------- +enables gamma-tubulin binding GO:0000000 PMID: 17286961 +enables histone H3 acetyltransferase act... GO:0000000 PMID: 9619837 +enables histone H4 acetyltransferase act... GO:0000000 PMID: 9619837 +NOT enables histone acetyltransferase ac... GO:0000000 PMID: 9824164 +enables identical protein binding GO:0000000 PMID: 21601571,25282148 +enables protease binding GO:0000000 PMID: 15314155 +enables protein binding GO:0000000 PMID: 9774970 +enables protein binding GO:0000000 PMID: 9560268,9774970,10373512,10551859,11597317,12242698,12442171,15115758,15800615,15930293,15967112,16099937,16205630,16275750,17420451,17515903,17515904,17541404,18212739,18264088,19303847,19369211,19423707,19609323,19628690,20421506,20729832,20729859,21399666,21601571,21719596,22116401,22193777,22293751,24013206,24141787,24485656,24981860,25282148,25585578,26649820,26833090,28319063,30410870,31242413,34591612 +enables single-stranded DNA binding GO:0000000 PMID: 20729832 + +Processs GO ID Evidence +------------------------------------------------------------------------------------------------- +involved_in DNA damage response, signal ... GO:0000000 - +involved_in brain development GO:0000000 - +involved_in cellular response to ionizin... GO:0000000 PMID: 14636569 +involved_in cellular senescence GO:0000000 - +involved_in centrosome duplication GO:0000000 PMID: 17286961 +involved_in chromatin remodeling GO:0000000 - +involved_in double-strand break repair GO:0000000 PMID: 16845393 +involved_in double-strand break repair v... GO:0000000 PMID: 21873635 +involved_in double-strand break repair v... GO:0000000 PMID: 20729832,28398198 +involved_in double-strand break repair v... GO:0000000 PMID: 21719596 +involved_in establishment of protein loc... GO:0000000 PMID: 21076401 +involved_in female gonad development GO:0000000 - +involved_in hematopoietic stem cell prol... GO:0000000 - +involved_in histone H2A monoubiquitinati... GO:0000000 PMID: 12485996 +involved_in inner cell mass cell prolife... GO:0000000 - +involved_in intrinsic apoptotic signalin... GO:0000000 - +involved_in male meiosis I GO:0000000 - +involved_in mitotic recombination-depend... GO:0000000 PMID: 21076401 +involved_in negative regulation of mamma... GO:0000000 PMID: 15930293 +involved_in nucleotide-excision repair GO:0000000 PMID: 16845393 +involved_in oocyte maturation GO:0000000 - +involved_in positive regulation of DNA-t... GO:0000000 PMID: 9126734 +involved_in positive regulation of mitot... GO:0000000 - +involved_in protein autoubiquitination GO:0000000 PMID: 12485996 +involved_in regulation of DNA damage che... GO:0000000 PMID: 14636569 +involved_in regulation of DNA-templated ... GO:0000000 PMID: 21873635 +involved_in regulation of cytokinesis GO:0000000 - +involved_in response to UV-C GO:0000000 - +involved_in response to X-ray GO:0000000 - +involved_in response to gamma radiation GO:0000000 - +involved_in spermatogenesis GO:0000000 - +involved_in telomere maintenance via rec... GO:0000000 - + +Component GO ID Evidence +------------------------------------------------------------------------------------------------- +part_of BRCA2-MAGE-D1 complex GO:0000000 PMID: 15930293 +part_of DNA repair complex GO:0000000 PMID: 19369211 +located_in centrosome GO:0000000 PMID: 17286961,21276791 +located_in chromosome, telomeric region GO:0000000 PMID: 21076401 +located_in cytosol GO:0000000 - +located_in cytosol GO:0000000 - +located_in lateral element GO:0000000 PMID: 9774970 +part_of nuclear ubiquitin ligase complex GO:0000000 PMID: 14636569 +located_in nucleoplasm GO:0000000 - +located_in nucleoplasm GO:0000000 - +is_active_in nucleus GO:0000000 PMID: 21873635 +located_in nucleus GO:0000000 PMID: 9560268,9774970,14636569,17286961,26833090 +located_in nucleus GO:0000000 PMID: 19369211 +part_of protein-containing complex GO:0000000 PMID: 9774970,26833090 +located_in secretory granule GO:0000000 PMID: 8589722 + +GENERAL PROTEIN INFORMATION +------------------------------------------------------------------------------------------------- +Preferred Names + breast cancer type 2 susceptibility protein +Names + BRCA1/BRCA2-containing complex, subunit 2 + DNA repair-associated BRCA2 + Fanconi anemia group D1 protein + breast and ovarian cancer susceptibility gene, early onset + breast and ovarian cancer susceptibility protein 2 + breast cancer 2 tumor suppressor + breast cancer 2, early onset + mutant BRCA2 + mutant DNA repair-associated protein 2 + +NCBI REFERENCE SEQUENCES (RefSeq) +------------------------------------------------------------------------------------------------- + +RefSeqs maintained independently of Annotated Genomes + +These reference sequences exist independently of genome builds. +These reference sequences are curated independently of the genome annotation cycle, +so their versions may not match the RefSeq versions in the current genome build. +Identify version mismatches by comparing the version of the RefSeq in this section to +the one reported in Genomic regions, transcripts, and products section above. + + Genomic + NG_012772.3 RefSeqGene + Range 5000..89192 + Download GenBank FASTA Sequence Viewer (Graphics) + + + + mRNA and Protein(s) + + NM_000059.4 → NP_000050.3 REVIEWEDbreast cancer type 2 susceptibility protein isoform 1 + Source sequence(s): AL137247, AL445212 + Consensus CDS: CCDS9344.1 + UniProtKB/TrEMBL: A0A7P0T9D7 + UniProtKB/Swiss-Prot: Q5TBJ7 + + Related Ensembl: ENSP00000369497.3, ENST00000380152.8 + Conserved Domains (5)summary + cd04494: + Location:2804 - 3054 + BRCA2DBD_OB2; A subfamily of OB folds corresponding to the second OB fold (OB2) of the 800-amino aci... + pfam00634: + Location:1213 - 1243 + BRCA2; BRCA2 repeat + pfam09103: + Location:2670 - 2793 + BRCA-2_OB1; BRCA2, oligonucleotide/oligosaccharide-binding, domain 1 + pfam09104: + Location:3054 - 3186 + BRCA-2_OB3; BRCA2, oligonucleotide/oligosaccharide-binding, domain 3 + pfam09169: + Location:2481 - 2667 + BRCA-2_helical; BRCA2, helical + + NM_001406719.1 → NP_001393648.1 REVIEWEDbreast cancer type 2 susceptibility protein isoform 3 + Source sequence(s): AL137247, AL445212 + + NM_001406720.1 → NP_001393649.1 REVIEWEDbreast cancer type 2 susceptibility protein isoform 2 + Source sequence(s): AL137247, AL445212 + + NM_001406721.1 → NP_001393650.1 REVIEWEDbreast cancer type 2 susceptibility protein isoform 4 + Source sequence(s): AL137247, AL445212 + + NM_001406722.1 → NP_001393651.1 REVIEWEDbreast cancer type 2 susceptibility protein isoform 5 + Source sequence(s): AL137247, AL445212 + + RNA + + NR_176251.1 RNA Sequence + Source sequence(s): AL137247, AL445212 + +RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03 +The following sections contain reference sequences that belong to a specific genome build. +This section includes genomic Reference Sequences (RefSeqs) from all assemblies on which +this gene is annotated, such as RefSeqs for chromosomes and scaffolds (contigs) from both +reference and alternate assemblies. Model RNAs and proteins are also reported here. + +Reference GRCh38.p14 Primary Assembly + + Genomic + NC_000013.11 Reference GRCh38.p14 Primary Assembly + Range 32315507..32400267 + Download GenBank FASTA Sequence Viewer (Graphics) + +Alternate T2T-CHM13v2.0 + + Genomic + NC_060937.1 Alternate T2T-CHM13v2.0 + Range 31532752..31617509 + Download GenBank FASTA Sequence Viewer (Graphics) + + + +RELATED SEQUENCES +------------------------------------------------------------------------------------------------- + +Nucleotide Protein +------------------------------------------------------------------------------------------------- +genomic AF288938.2 None +genomic AF309413.1 AAG46030.1 +genomic AF317283.1 None +genomic AF348515.1 AAK29432.1 +genomic AF489725.1 AAN61409.1 +genomic AF489726.1 AAN61410.1 +genomic AF489727.1 AAN61411.1 +genomic AF489728.1 AAN61412.1 +genomic AF489729.1 AAN61413.1 +genomic AF489730.1 AAN61414.1 +genomic AF489731.1 AAN61415.1 +genomic AF489732.1 AAN61416.1 +genomic AF489733.1 AAN61417.1 +genomic AF489734.1 AAN61418.1 +genomic AF489735.1 AAN61419.1 +genomic AF489736.1 AAN61420.1 +genomic AF489737.1 AAN61421.1 +genomic AF489738.1 AAN61422.1 +genomic AF507079.1 AAN61426.1 +genomic AF507080.1 AAN61427.1 +genomic AF507081.1 AAN61428.1 +genomic AF507082.1 AAN61429.1 +genomic AF507083.1 AAN61430.1 +genomic AF507084.1 AAN61431.1 +genomic AF507085.1 AAN61432.1 +genomic AF507086.1 AAN61433.1 +genomic AF507087.1 AAN61434.1 +genomic AF507088.1 AAN61435.1 +genomic AF507089.1 AAN61436.1 +genomic AF507090.1 AAN61437.1 +genomic AL137247.14(100..1899) None +genomic AL445212.9(83668..166657) None +genomic AY008850.1 AAG32681.1 +genomic AY008851.1 AAG32682.1 +genomic AY151039.1 AAN28944.1 +genomic AY436640.1 AAQ97181.1 +genomic CH471075.1 EAX08499.1 + EAX08500 + EAX08501 +genomic CP068265.2(31532753..31617510) None +genomic DQ115319.1 AAZ22546.1 +genomic DQ889340.1 ABJ90481.1 +genomic EU625579.1 ACD01217.1 +genomic HM763690.1 None +genomic HQ221557.1 None +genomic HQ221558.1 None +genomic KJ625180.1 AIC83538.1 +genomic KJ625181.1 AIC83560.1 +genomic KJ625182.1 AIC83561.1 +genomic KJ625183.1 AIC83562.1 +genomic KJ625184.1 AIC83563.1 +genomic KJ625185.1 AIC83564.1 +genomic KJ625186.1 AIC83565.1 +genomic KJ625187.1 AIC83566.1 +genomic KJ625188.1 AIC83567.1 +genomic KJ625189.1 AIC83568.1 +genomic KJ625190.1 AIC83569.1 +genomic KJ625191.1 AIC83570.1 +genomic KJ625192.1 AIC83543.1 +genomic KJ625193.1 AIC83536.1 +genomic KJ625194.1 AIC83537.1 +genomic KJ625195.1 AIC83534.1 +genomic KJ625196.1 AIC83535.1 +genomic KJ625197.1 AIC83532.1 +genomic KJ625198.1 AIC83533.1 +genomic KJ625199.1 AIC83531.1 +genomic KJ625200.1 AIC83529.1 +genomic KJ625201.1 AIC83530.1 +genomic KJ625202.1 AIC83583.1 +genomic KJ625203.1 AIC83584.1 + AIC83585 + AIC83586 +genomic KJ625204.1 AIC83587.1 +genomic KJ625205.1 AIC83588.1 +genomic KM464556.1 AIY60806.1 +genomic KP255404.1 AKE50582.1 +genomic KP255405.1 AKE50583.1 +genomic KP255406.1 AKE50584.1 +genomic KP255407.1 AKE50585.1 +genomic KP255408.1 AKE50586.1 +genomic KP255409.1 AKE50587.1 +genomic KP255410.1 AKE50588.1 +genomic KP255411.1 AKE50589.1 +genomic KP255412.1 AKE50590.1 +genomic KP255413.1 AKE50591.1 +genomic KP255414.1 AKE50592.1 +genomic KP255415.1 AKE50593.1 +genomic KP255416.1 AKE50594.1 +genomic KP255417.1 AKE50595.1 +genomic KT901805.2 ALQ44025.1 +genomic KT901806.1 ALQ44026.1 +genomic KT901807.2 ALQ44027.1 +genomic KT901808.2 ALQ44028.1 +genomic KT901809.1 ALQ44029.1 +genomic KT901810.2 ALQ44030.1 +genomic KT901812.2 ALQ44032.1 +genomic KT901813.2 ALQ44033.1 +genomic KT901814.1 ALQ44034.1 +genomic KX492888.1 None +genomic KX492889.1 None +genomic KY302339.1 AQQ13115.1 +genomic LC331708.1 None +genomic LC331709.1 None +genomic LC331710.1 None +genomic LC331907.1 None +genomic LC331908.1 None +genomic LC331909.1 None +genomic LC331910.1 None +genomic LC331911.1 None +genomic LC331912.1 None +genomic MF098560.1 AWJ64385.1 +genomic MF098561.1 AWJ64386.1 +genomic MF098562.1 AWJ64387.1 +genomic MF431605.1 ASV63591.1 +genomic MF769700.1 ASW23221.1 +genomic MF769701.1 ASW23222.1 +genomic MF769702.1 ASW23223.1 +genomic MF769703.1 ASW23224.1 +genomic MF769704.1 ASW23225.1 +genomic MF769705.1 ASW23226.1 +genomic MF769706.1 ASW23227.1 +genomic MF769707.1 ASW23228.1 +genomic MF769708.1 ASW23229.1 +genomic MF769709.1 ASW23230.1 +genomic MF769710.1 ASW23231.1 +genomic MF769711.1 ASW23232.1 +genomic MG494343.1 AYD59811.1 +genomic MG494344.1 AYD59812.1 +genomic MG494345.1 AYD59813.1 + AYD59814 +genomic MG494346.1 AYD59815.1 +genomic MG494349.1 None +genomic MG494350.1 None +genomic MG494351.1 None +genomic MH068859.1 None +genomic MN698972.1 QNJ44865.1 +genomic MN698973.1 QNJ44866.1 +genomic MT731961.1 UAM96193.1 +genomic MT793119.1 QSV17868.1 +genomic MT799786.1 QSV17869.1 +genomic MT901679.1 QUD18340.1 +genomic MT901680.1 QUD18341.1 +genomic MT901681.1 QUD18342.1 +genomic MT901682.1 QUD18343.1 +genomic MT901683.1 QUD18344.1 +genomic MT901684.1 QUD18345.1 +genomic MT901685.1 QUD18346.1 +genomic MW048525.1 UGU37860.1 +genomic MW600293.1 QVP25877.1 +genomic MW928852.1 QVP25878.1 +genomic MW928853.1 QVP25879.1 +genomic MW928854.1 QVP25880.1 +genomic MW928855.1 QVP25881.1 +genomic MW928856.1 QVP25882.1 +genomic MW928857.1 QVP25883.1 +genomic MW928858.1 QVP25884.1 +genomic MW928859.1 QVP25885.1 +genomic MW928860.1 QVP25886.1 +genomic MW928861.1 QVP25887.1 +genomic MW928862.1 QVP25888.1 +genomic MW928863.1 QVP25889.1 +genomic MW928864.1 QVP25890.1 +genomic MW928865.1 QVP25891.1 +genomic MW928866.1 QVP25892.1 +genomic MW928867.1 QVP25893.1 +genomic MW928868.1 QVP25894.1 +genomic MW928869.1 QVP25895.1 +genomic MW928870.1 QVP25896.1 +genomic MW928871.1 QVP25897.1 +genomic MW928872.1 QVP25898.1 +genomic MW928873.1 QVP25899.1 +genomic MW928874.1 QVP25900.1 +genomic MW928875.1 QVP25901.1 +genomic MW928876.1 QVP25902.1 +genomic MW928877.1 QVP25903.1 +genomic MW928878.1 QVP25904.1 +genomic MW928879.1 QVP25905.1 +genomic MW928880.1 QVP25906.1 +genomic MW928881.1 QVP25907.1 +genomic MW928882.1 QVP25908.1 +genomic MW928883.1 QVP25909.1 +genomic MW928884.1 QVP25910.1 +genomic MW928885.1 QVP25911.1 +genomic MW928886.1 QVP25912.1 +genomic MW928887.1 QVP25913.1 +genomic MZ027671.1 QVP25914.1 +genomic MZ027672.1 QVP25915.1 +genomic MZ029095.1 UWU44243.1 +genomic MZ029096.1 UWU44244.1 +genomic MZ029097.1 UWU44245.1 +genomic MZ029098.1 UWU44246.1 +genomic MZ029099.1 UWU44247.1 +genomic MZ029100.1 UWU44248.1 +genomic MZ029101.1 UWU44249.1 +genomic MZ029102.1 UWU44250.1 +genomic MZ029103.1 UWU44251.1 +genomic MZ029104.1 UWU44252.1 +genomic MZ029105.1 UWU44253.1 +genomic MZ029106.1 UWU44254.1 +genomic MZ029107.1 UWU44255.1 +genomic MZ029108.1 UWU44256.1 +genomic MZ029109.1 UWU44257.1 +genomic MZ054388.1 QVP25916.1 +genomic MZ054389.1 QVP25917.1 +genomic MZ567236.1 UIW38570.1 +genomic MZ567237.1 UIW38571.1 +genomic MZ567238.1 UIW38572.1 +genomic MZ567239.1 UIW38573.1 +genomic MZ803008.1 UGY71104.1 +genomic MZ803009.1 UGY71105.1 +genomic OL512957.1 None +genomic OL538159.1 None +genomic OL546650.1 None +genomic OM350328.1 UOG94978.1 +genomic OM350329.1 UOG94979.1 +genomic OM350330.1 UOG94980.1 +genomic OM350331.1 UOG94981.1 +genomic OM350332.1 UOG94982.1 +genomic OM350333.1 UOG94983.1 +genomic OM350334.1 UOG94984.1 +genomic OM650684.1 WAK86307.1 +genomic OM650685.1 WAK86308.1 +genomic OM650687.1 WAK86310.1 +genomic X95151.1(269..456) None +genomic X95152.1 CAA64484.1 +genomic X95153.1(501..749) None +genomic X95154.1(166..274) None +genomic X95155.1(501..550) None +genomic X95156.1(501..541) None +genomic X95157.1(501..615) None +genomic X95158.1(501..550) None +genomic X95159.1(501..612) None +genomic X95160.1(431..1546) None +genomic X95161.1 None +genomic X95163.1(481..550) None +genomic X95164.1(481..908) None +genomic X95165.1(77..242) None +genomic X95166.1(481..684) None +genomic X95167.1(501..671) None +genomic X95168.1(501..855) None +genomic X95169.1(500..655) None +genomic X95170.1(501..645) None +genomic X95171.1(219..340) None +genomic X95172.1(501..699) None +genomic X95173.1(501..664) None +genomic X95174.1(501..639) None +genomic X95175.1(501..745) None +genomic X95176.1(501..647) None +genomic X95177.1(310..1757) None +genomic Z73359.1 CAA97728.1 +genomic Z74739.1 CAA98995.2 +mRNA BC026160.1 None +mRNA BC047568.1 None +mRNA DQ897648.1 ABI74674.1 +mRNA JX480468.1 AFU88810.1 +mRNA JX480469.1 AFU88811.1 +mRNA JX480470.1 AFU88812.1 +mRNA JX480471.1 AFU88813.1 +mRNA JX480472.1 AFU88814.1 +mRNA JX480473.1 AFU88815.1 +mRNA JX480474.1 AFU88816.1 +mRNA JX480475.1 AFU88817.1 +mRNA JX480476.1 AFU88818.1 +mRNA JX480477.1 AFU88819.1 +mRNA JX480478.1 AFU88820.1 +mRNA KP272107.1 AKG51649.1 +mRNA KP272108.1 AKG51650.1 +mRNA LC547969.1 None +mRNA MG494302.1 AYD59769.1 +mRNA MG494303.1 AYD59770.1 +mRNA MG494304.1 AYD59771.1 +mRNA MG494305.1 AYD59772.1 +mRNA MG494306.1 AYD59773.1 +mRNA MG494307.1 AYD59774.1 +mRNA MG494308.1 AYD59775.1 +mRNA MG494309.1 AYD59776.1 +mRNA MG494310.1 AYD59777.1 +mRNA MG494311.1 AYD59778.1 +mRNA MG494312.1 AYD59779.1 +mRNA MG494313.1 AYD59780.1 +mRNA MG494314.1 AYD59781.1 +mRNA MG494315.1 AYD59782.1 +mRNA MG494316.1 AYD59783.1 +mRNA MG494317.1 AYD59784.1 +mRNA MG494318.1 AYD59785.1 +mRNA MG494319.1 AYD59786.1 +mRNA MG494320.1 AYD59787.1 +mRNA MG494321.1 AYD59788.1 +mRNA MG494322.1 AYD59789.1 +mRNA MG494323.1 AYD59790.1 +mRNA MG494324.1 AYD59791.1 +mRNA MG494325.1 AYD59792.1 +mRNA MG494326.1 AYD59793.1 +mRNA MG494327.1 AYD59794.1 +mRNA MG494328.1 AYD59795.1 +mRNA MG494329.1 AYD59796.1 +mRNA MG494330.1 AYD59797.1 +mRNA MG494331.1 AYD59798.1 +mRNA MG494332.1 AYD59799.1 +mRNA MG494333.1 AYD59800.1 +mRNA MG494334.1 AYD59801.1 +mRNA MG494335.1 AYD59802.1 +mRNA MG494336.1 AYD59803.1 +mRNA MH068861.1 None +mRNA MH068862.1 None +mRNA MH068863.1 None +mRNA MH068864.1 None +mRNA MH068865.1 None +mRNA MK028702.1 QCL11115.1 +mRNA MK028703.1 QCL11116.1 +mRNA MK028704.1 QCL11117.1 +mRNA MK028705.1 QCL11118.1 +mRNA MK848287.1 QGJ03645.1 +mRNA MK848288.1 QGJ03646.1 +mRNA MK848289.1 QGJ03647.1 +mRNA MK848290.1 QGJ03648.1 +mRNA MN264277.1 QIM56776.1 +mRNA MN264278.1 QIM56777.1 +mRNA MN780897.1 QNO58539.1 +mRNA MN780898.1 QNO58540.1 +mRNA MT024694.1 QNC49812.1 +mRNA MT313307.1 QTZ96721.1 +mRNA MT731957.1 UAM96189.1 +mRNA MT731958.1 UAM96190.1 +mRNA MW117159.1 UGU37864.1 +mRNA MW117160.1 UGU37865.1 +mRNA MW703446.1 UIW38032.1 +mRNA MW703447.1 UIW38033.1 +mRNA MW703448.1 UIW38034.1 +mRNA MZ047302.1 UIW38053.1 +mRNA OK018166.1 UGU37889.1 +mRNA OK018167.1 UGU37890.1 +mRNA OK018168.1 UGU37891.1 +mRNA OK018169.1 UGU37892.1 +mRNA OK018170.1 UGU37893.1 +mRNA OK018171.1 UGU37894.1 +mRNA OK018172.1 UGU37895.1 +mRNA OK018173.1 UGU37896.1 +mRNA OL856010.1 UIW38575.1 +mRNA OL856011.1 UIW38576.1 +mRNA OL856012.1 UIW38577.1 +mRNA OL856013.1 UIW38578.1 +mRNA OL856014.1 UIW38579.1 +mRNA U43746.1 AAB07223.1 + +Protein Accession Links +------------------------------------------------------------------------------------------------- +P51587.4 GenPept(/protein/2203400801) UniProtKB/Swiss-Prot:P51587 + +GENE LINKOUT +------------------------------------------------------------------------------------------------- +The following LinkOut(www.ncbi.nlm.nih.gov/projects/linkout/index.html) resources +are supplied by external providers. These providers are responsible for +maintaining the links. + +Chemical Information + (Free resource) (free) Interologous Interaction Database + Interologous Interaction Database + (Order form) MilliporeSigma + Brca2 productsBrca2 products + (Order form) Novus Biologicals + Primary AntibodiesPrimary AntibodiesRNAiRNAi + +Medical + (Free resource) (free) MedlinePlus Health Information + BRCA2 geneBRCA2 gene + +Molecular Biology Databases + (Free resource) (free) Bgee database + BRCA2 gene expressionBRCA2 gene expression + (Free resource) (free) BioGPS + BioGPS + (Free resource) (free) BioGRID Open Repository of CRISPR Screens (ORCS) + BioGRID CRISPR Screen Phenotypes (342 hits/1176 screens)BioGRID CRISPR Screen Phenotypes (342 hits/1176 screens) + (Free resource) (free) CREB Target Gene Database + CREB Target Gene Database + (Free resource) (Free registration required) (free) Creative Biogene + breast cancer 2, early onsetbreast cancer 2, early onset + (Free resource) (free) Domain Mapping of Disease Mutations + BRCA2BRCA2 + (Free resource) (free) Eukaryotic Promoter Database + BRCA2_1BRCA2_1 + (Free resource) (free) GenAge Database of Aging Related Genes + GenAge Database of Aging Related Genes + (Order form) GenScript latest version of gene cDNA ORF Clone + GenScript latest version of gene cDNA ORF Clone + (Free resource) (free) GeneNetwork + Records for gene expression in HumanRecords for gene expression in Human + (Free resource) (free) Genevisible + BRCA2BRCA2 + (Free resource) (free) GlyGen glycoinformatics resource + GlyGen glycoinformatics resource + (Free resource) (Free registration required) (free) Human Gene Mutation Database + Human Gene Mutation Database + (Free resource) (free) Human eFP Browser + Human eFP BrowserHuman eFP BrowserHuman eFP Browser + Ingenuity Pathways Analysis + Ingenuity Pathways Analysis + (Free resource) (free) InnateDB + InnateDB + (Free resource) (free) InterMine + InterMine + (Free resource) (free) Kyoto Encyclopedia of Genes and Genomes + Kyoto Encyclopedia of Genes and Genomes + (Free resource) (free) LSDB from Gene + BRCA2 @ ZAC-GGMBRCA2 @ ZAC-GGMBreast Cancer Information Core (BIC)Breast Cancer Information Core (BIC)BRCA2 homepage - LOVDBRCA2 homepage - LOVD + (Free resource) (free) OMA Browser: Orthologous MAtrix + OMA Browser: Orthologous MAtrixOMA Browser: Orthologous MAtrix + (Free resource) (free) OrthoDB catalog of orthologs + OrthologsOrthologs + (Free resource) (free) Pharmacogenomics Knowledge Base + Annotated Pharmacogenomic Information for BRCA2 [PharmGKB]Annotated Pharmacogenomic Information for BRCA2 [PharmGKB] + (Free resource) (free) PhosphoSitePlus + PhosphoSitePlus® - comprehensive post-translational modification resourcePhosphoSitePlus® - comprehensive post-translational modification resource + (Free resource) (free) Protein Ontology Consortium + Protein Ontology Consortium + (Free resource) (free) The Gene Wiki + The Gene Wiki + (Free resource) (free) The Weizmann Institute of Science GeneCards and MalaCards databases + GeneCard for BRCA2GeneCard for BRCA2 + (Free resource) (free) Vertebrate Genome Annotation (VEGA) database + Vertebrate Genome Annotation (VEGA) database + (Free resource) (free) iRefWeb - iRefIndex release 9.0 - Consolidated Interactome + iRefWeb - iRefIndex release 9.0 - Consolidated Interactome + +Research Materials + (Order form) Addgene Non-profit plasmid repository + Get Plasmids - AddgeneGet Plasmids - Addgene + ExactAntigen/Labome + reagentsreagentsreagent reviewreagent review + (Order form) GeneCopoeia Inc. + Order full-length ORF cloneOrder full-length ORF cloneOrder TALEN/CRISPR clonesOrder TALEN/CRISPR clones + LifeSpan BioSciences, Inc. + LSBio BRCA2 ProteinsLSBio BRCA2 Proteins + (Order form) Sino Biological Inc. + Human BRCA2 partial Gene cDNA Clone / ORF CloneHuman BRCA2 partial Gene cDNA Clone / ORF Clone + +Tools + (Free resource) (free) GeneMANIA + GeneMANIA \ No newline at end of file