BRCA2 BRCA2 DNA repair associated[Homo sapiens]
Gene ID: 675, updated on 1-May-2023
SUMMARY
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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
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Location: 13q13.1
Annotation release Status Assembly Chromosome Location
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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
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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
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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
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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
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Description Tests
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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
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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
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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
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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
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(Free resource) (free) BioGPS
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BioGRID CRISPR Screen Phenotypes (342 hits/1176 screens)BioGRID CRISPR Screen Phenotypes (342 hits/1176 screens)
(Free resource) (free) CREB Target Gene Database
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(Free resource) (free) Domain Mapping of Disease Mutations
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(Order form) GenScript latest version of gene cDNA ORF Clone
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(Free resource) (free) GeneNetwork
Records for gene expression in HumanRecords for gene expression in Human
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(Free resource) (free) GlyGen glycoinformatics resource
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Human eFP BrowserHuman eFP BrowserHuman eFP Browser
Ingenuity Pathways Analysis
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(Free resource) (free) InnateDB
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(Free resource) (free) InterMine
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(Free resource) (free) Kyoto Encyclopedia of Genes and Genomes
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(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
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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
