Gene Gene information from NCBI Gene database.
Entrez ID 675
Gene name BRCA2 DNA repair associated
Gene symbol BRCA2
Synonyms (NCBI Gene)
BRCC2BROVCA2FACDFADFAD1FANCDFANCD1GLM3PNCA2XRCC11
Chromosome 13
Chromosome location 13q13.1
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-st
SNPs SNP information provided by dbSNP.
3564
SNP ID Visualize variation Clinical significance Consequence
rs206076 G>A,C,T Likely-benign, benign, conflicting-interpretations-of-pathogenicity, not-provided Coding sequence variant, synonymous variant
rs766173 A>C,G Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign, benign Coding sequence variant, missense variant
rs1799956 A>G Uncertain-significance, pathogenic Coding sequence variant, synonymous variant
rs4987049 C>A,G,T Likely-benign, pathogenic, benign-likely-benign, benign Coding sequence variant, synonymous variant, stop gained
rs11571587 CAA>- Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign Coding sequence variant, inframe deletion
miRNA miRNA information provided by mirtarbase database.
103
miRTarBase ID miRNA Experiments Reference
MIRT001919 hsa-miR-146a-5p Luciferase reporter assay 18660546
MIRT001919 hsa-miR-146a-5p Luciferase reporter assay 18660546
MIRT006574 hsa-miR-1245a Luciferase reporter assayWestern blot 22158906
MIRT006574 hsa-miR-1245a Luciferase reporter assayWestern blot 22158906
MIRT022036 hsa-miR-128-3p Microarray 17612493
Transcription factors Transcription factors information provided by TRRUST V2 database.
12
Transcription factor Regulation Reference
BRCA1 Unknown 11405179
CTBP1 Repression 18765668
ELF1 Unknown 10557089
ESR2 Repression 18765668
HDAC1 Repression 18765668
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
75
GO ID Ontology Definition Evidence Reference
GO:0000152 Component Nuclear ubiquitin ligase complex IDA 14636569
GO:0000722 Process Telomere maintenance via recombination IEA
GO:0000724 Process Double-strand break repair via homologous recombination IBA
GO:0000724 Process Double-strand break repair via homologous recombination IDA 20729832, 28398198
GO:0000724 Process Double-strand break repair via homologous recombination IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600185 1101 ENSG00000139618
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P51587
Protein name Breast cancer type 2 susceptibility protein (Fanconi anemia group D1 protein)
Protein function Involved in double-strand break repair and/or homologous recombination. Binds RAD51 and potentiates recombinational DNA repair by promoting assembly of RAD51 onto single-stranded DNA (ssDNA). Acts by targeting RAD51 to ssDNA over double-stranded
PDB 1N0W , 3EU7 , 6GY2 , 6HQU , 7BDX , 7LDG , 8BR9 , 8C3J , 8C3N , 8PBC , 8PBD , 8QQE , 8R2G , 8UVW
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00634 BRCA2 1003 1035 BRCA2 repeat Family
PF00634 BRCA2 1213 1245 BRCA2 repeat Family
PF00634 BRCA2 1422 1454 BRCA2 repeat Family
PF00634 BRCA2 1518 1550 BRCA2 repeat Family
PF00634 BRCA2 1665 1696 BRCA2 repeat Family
PF00634 BRCA2 1973 2004 BRCA2 repeat Family
PF00634 BRCA2 2052 2084 BRCA2 repeat Family
PF09169 BRCA-2_helical 2481 2667 BRCA2, helical Domain
PF09103 BRCA-2_OB1 2670 2796 BRCA2, oligonucleotide/oligosaccharide-binding, domain 1 Domain
PF09121 Tower 2831 2872 Tower Domain
PF09104 BRCA-2_OB3 3052 3186 BRCA2, oligonucleotide/oligosaccharide-binding, domain 3 Domain
Tissue specificity TISSUE SPECIFICITY: Highest levels of expression in breast and thymus, with slightly lower levels in lung, ovary and spleen.
Sequence
MPIGSKERPTFFEIFKTRCNKADLGPISLNWFEELSSEAPPYNSEPAEESEHKNNNYEPN
LFKTPQRKPSYNQLASTPIIFKEQGLTLPLYQSPVKELDKFKLDLGRNVPNSRHKSLRTV
KTKMDQADDVSCPLLNSCLSESPVVLQCTHVTPQRDKSVVCGSLFHTPKFVKGRQTPKHI
SESLGAEVDPDMSWSSSLATPPTLSSTVLIVRNEEASETVFPHDTTANVKSYFSNHDESL
KKNDRFIASVTDSENTNQREAASHGFGKTSGNSFKVNSCKDHIGKSMPNVLEDEVYETVV
DTSEEDSFSLCFSKCRTKNLQKVRTSKTRKKIFHEANADECEKSKNQVKEKYSFVSEVEP
NDTDPLDSNVANQKPFESGSDKISKEVVPSLACEWSQLTLSGLNGAQMEKIPLLHISSCD
QNISEKDLLDTENKRKKDFLTSENSLPRISSLPKSEKPLNEETVVNKRDEEQHLESHTDC
ILAVKQAISGTSPVASSFQGIKKSIFRIRESPKETFNASFSGHMTDPNFKKETEASESGL
EIHTVCSQKEDSLCPNLIDNGSWPATTTQNSVALKNAGLISTLKKKTNKFIYAIHDETSY
KGKKIPKDQKSELINCSAQFEANAFEAPLTFANADSGLLHSSVKRSCSQNDSEEPTLSLT
SSFGTILRKCSRNETCSNNTVISQDLDYKEAKCNKEKLQLFITPEADSLSCLQEGQCEND
PKSKKVSDIKEEVLAAACHPVQHSKVEYSDTDFQSQKSLLYDHENASTLILTPTSKDVLS
NLVMISRGKESYKMSDKLKGNNYESDVELTKNIPMEKNQDVCALNENYKNVELLPPEKYM
RVASPSRKVQFNQNTNLRVIQKNQEETTSISKITVNPDSEELFSDNENNFVFQVANERNN
LALGNTKELHETDLTCVNEPIFKNSTMVLYGDTGDKQATQVSIKKDLVYVLAEENKNSVK
QHIKMTLGQDLKSDISLNIDKIPEKNNDYMNKWAGLLGPISNHSFGGSFRTASNKEIKLS
EHNIKKSKMFFKDIE
EQYPTSLACVEIVNTLALDNQKKLSKPQSINTVSAHLQSSVVVSD
CKNSHITPQMLFSKQDFNSNHNLTPSQKAEITELSTILEESGSQFEFTQFRKPSYILQKS
TFEVPENQMTILKTTSEECRDADLHVIMNAPSIGQVDSSKQFEGTVEIKRKFAGLLKNDC
NKSASGYLTDENEVGFRGFYSAHGTKLNVSTEALQKAVKLFSDIENISEETSAEVHPISL
SSSKCHDSVVSMFKIENHNDKTVSEKNNKCQLILQNNIEMTTGTFVEEITENYKRNTENE
DNKYTAASRNSHNLEFDGSDSSKNDTVCIHKDETDLLFTDQHNICLKLSGQFMKEGNTQI
KEDLSDLTFLEVAKAQEACHGNTSNKEQLTATKTEQNIKDFETSDTFFQTASGKNISVAK
ESFNKIVNFFDQKP
EELHNFSLNSELHSDIRKNKMDILSYEETDIVKHKILKESVPVGTG
NQLVTFQGQPERDEKIKEPTLLGFHTASGKKVKIAKESLDKVKNLFDEKEQGTSEITSFS
HQWAKTLKYREACKDLELACETIEITAAPKCKEMQNSLNNDKNLVSIETVVPPKLLSDNL
CRQTENLKTSKSIFLKVKVHENVEKETAKSPATCYTNQSPYSVIENSALAFYTSCSRKTS
VSQTSLLEAKKWLREG
IFDGQPERINTADYVGNYLYENNSNSTIAENDKNHLSEKQDTYL
SNSSMSNSYSYHSDEVYNDSGYLSKNKLDSGIEPVLKNVEDQKNTSFSKVISNVKDANAY
PQTVNEDICVEELVTSSSPCKNKNAAIKLSISNSNNFEVGPPAFRIASGKIVCVSHETIK
KVKDIFTDSFSKVIKENNENKSKICQTKIMAGCYEALDDSEDILHNSLDNDECSTHSHKV
FADIQSEEILQHNQNMSGLEKVSKISPCDVSLETSDICKCSIGKLHKSVSSANTCGIFST
ASGKSVQVSDASLQNARQVFSEIE
DSTKQVFSKVLFKSNEHSDQLTREENTAIRTPEHLI
SQKGFSYNVVNSSAFSGFSTASGKQVSILESSLHKVKGVLEEFDLIRTEHSLHYSPTSRQ
NVSKILPRVDKRNPEHCVNSEMEKTCSKEFKLSNNLNVEGGSSENNHSIKVSPYLSQFQQ
DKQQLVLGTKVSLVENIHVLGKEQASPKNVKMEIGKTETFSDVPVKTNIEVCSTYSKDSE
NYFETEAVEIAKAFMEDDELTDSKLPSHATHSLFTCPENEEMVLSNSRIGKRRGEPLILV
GEPSIKRNLLNEFDRIIENQEKSLKASKSTPDGTIKDRRLFMHHVSLEPITCVPFRTTKE
RQEIQNPNFTAPGQEFLSKSHLYEHLTLEKSSSNLAVSGHPFYQVSATRNEKMRHLITTG
RPTKVFVPPFKTKSHFHRVEQCVRNINLEENRQKQNIDGHGSDDSKNKINDNEIHQFNKN
NSNQAAAVTFTKCEEEPLDLITSLQNARDIQDMRIKKKQRQRVFPQPGSLYLAKTSTLPR
ISLKAAVGGQVPSACSHKQLYTYGVSKHCIKINSKNAESFQFHTEDYFGKESLWTGKGIQ
LADGGWLIPSNDGKAGKEEFYRALCDTPGVDPKLISRIWVYNHYRWIIWKLAAMECAFPK
EFANRCLSPERVLLQLKYRYDTEIDRS
RRSAIKKIMERDDTAAKTLVLCVSDIISLSANI
SETSSNKTSSADTQKVAIIELTDGWYAVKAQLDPPLLAVLKNGRLTVGQKIILHGAELVG
SPDACTPLEAPESLMLKISANSTRPARWYTKLGFFP
DPRPFPLPLSSLFSDGGNVGCVDV
IIQRAYPIQWMEKTSSGLYIFRNEREEEKEAAKYVEAQQKRLEALFTKIQEEFEEHEENT
TKPYLPSRALTRQQVRALQDGAELYEAVKNAADPAYLEGYFSEEQLRALNNHRQMLNDKK
QAQIQLEIRKAMESAEQKEQGLSRDVTTVWKLRIVSYSKKEKDSVILSIWRPSSDLYSLL
TEGKRYRIYHLATSKSKSKSERANIQLAATKKTQYQQLPVSDEILFQIYQPREPLHFSKF
LDPDFQPSCSEVDLIGFVVSVVKKTGLAPFVYLSDECYNLLAIKFWIDLNEDIIKPHMLI
AASNLQWRPESKSGLLTLFAGDFSVFSASPKEGHFQETFNKMKNTVENIDILCNEAENKL
MHILHA
NDPKWSTPTKDCTSGPYTAQIIPGTGNKLLMSSPNCEIYYQSPLSLCMAKRKSV
STPVSAQMTSKSCKGEKEIDDQKNCKKRRALDFLSRLPLPPPVSPICTFVSPAAQKAFQP
PRSCGTKYETPIKKKELNSPQMTPFKKFNEISLLESNSIADEELALINTQALLSGSTGEK
QFISVSESTRTAPTSSEDYLRLKRRCTTSLIKEQESSQASTEECEKNKQDTITTKKYI
Sequence length 3418
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Homologous recombination
Fanconi anemia pathway
Pathways in cancer
Pancreatic cancer
Breast cancer
  HDR through Homologous Recombination (HRR)
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
Resolution of D-loop Structures through Holliday Junction Intermediates
Homologous DNA Pairing and Strand Exchange
Presynaptic phase of homologous DNA pairing and strand exchange
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
140
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Ateleiotic dwarfism Pathogenic rs587779349 RCV000115039
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
BAP1-related tumor predisposition syndrome Pathogenic rs276174859 RCV000214770
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
bilateral breast cancer Pathogenic rs397507802 RCV001004829
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
BRCA2-related cancer predisposition Likely pathogenic; Pathogenic rs431825357, rs431825371, rs2138704192, rs746413844, rs80359066, rs80359187, rs80359773, rs2137493447, rs587781803, rs276174916, rs587782715, rs587782780, rs587782880, rs397507634, rs786203329
View all (173 more)
RCV006259013
RCV004804094
RCV005361588
RCV005361596
RCV006276070
View all (189 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Atypical teratoid rhabdoid tumor Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BILIARY TRACT CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Accessory nipple Accessory Nipple BEFREE 28361071
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 23619121, 26657402
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 14647419, 21289082, 25884701, 30155608, 30808988, 31565603, 7531687
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 17289874, 18036394
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer GWASCAT_DG 27197191
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 17289874, 26842001, 27151654
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma GWASCAT_DG 27197191
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 18762988, 19064968, 21613821, 21750719, 21934105, 21989927, 23658460, 24622079, 25304989, 26844277, 28183138, 30636051, 31469826, 31612916, 8950667
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma HPO_DG
★☆☆☆☆
Found in Text Mining only