• Gene id: 675

Gene Summary

• Gene Symbol: BRCA2   Gene   UCSC   Ensembl
• Aliases: BRCC2, BROVCA2, FACD, FAD, FAD1, FANCD, FANCD1, GLM3, PNCA2, XRCC11
• Gene name: BRCA2, DNA repair associated
• Alternate names: breast cancer type 2 susceptibility protein, BRCA1/BRCA2-containing complex, subunit 2, Fanconi anemia group D1 protein, breast and ovarian cancer susceptibility gene, early onset, breast and ovarian cancer susceptibility protein 2, breast cancer 2 tumor ,
• Gene location: 13q13.1 (32315479: 32399671)     Exons: 27     NC_000013.11
• Gene summary(Entrez): 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
• OMIM: 600185

Protein Summary

• Protein general information: P51587  
  • Name: Breast cancer type 2 susceptibility protein (Fanconi anemia group D1 protein)
  • Length: 3418  
  • Mass: 384,202
  • Tissue specificity: Widely expressed in adult and fetal tissues with highest expression in adult brain (at protein level), heart, liver and adrenal gland and fetal heart, kidney, liver and lung. Also expressed in colorectal cancers and malignant melanomas
• Sequence:

  MPIGSKERPTFFEIFKTRCNKADLGPISLNWFEELSSEAPPYNSEPAEESEHKNNNYEPNLFKTPQRKPSYNQLA
  STPIIFKEQGLTLPLYQSPVKELDKFKLDLGRNVPNSRHKSLRTVKTKMDQADDVSCPLLNSCLSESPVVLQCTH
  VTPQRDKSVVCGSLFHTPKFVKGRQTPKHISESLGAEVDPDMSWSSSLATPPTLSSTVLIVRNEEASETVFPHDT
  TANVKSYFSNHDESLKKNDRFIASVTDSENTNQREAASHGFGKTSGNSFKVNSCKDHIGKSMPNVLEDEVYETVV
  DTSEEDSFSLCFSKCRTKNLQKVRTSKTRKKIFHEANADECEKSKNQVKEKYSFVSEVEPNDTDPLDSNVANQKP
  FESGSDKISKEVVPSLACEWSQLTLSGLNGAQMEKIPLLHISSCDQNISEKDLLDTENKRKKDFLTSENSLPRIS
  SLPKSEKPLNEETVVNKRDEEQHLESHTDCILAVKQAISGTSPVASSFQGIKKSIFRIRESPKETFNASFSGHMT
  DPNFKKETEASESGLEIHTVCSQKEDSLCPNLIDNGSWPATTTQNSVALKNAGLISTLKKKTNKFIYAIHDETSY
  KGKKIPKDQKSELINCSAQFEANAFEAPLTFANADSGLLHSSVKRSCSQNDSEEPTLSLTSSFGTILRKCSRNET
  CSNNTVISQDLDYKEAKCNKEKLQLFITPEADSLSCLQEGQCENDPKSKKVSDIKEEVLAAACHPVQHSKVEYSD
  TDFQSQKSLLYDHENASTLILTPTSKDVLSNLVMISRGKESYKMSDKLKGNNYESDVELTKNIPMEKNQDVCALN
  ENYKNVELLPPEKYMRVASPSRKVQFNQNTNLRVIQKNQEETTSISKITVNPDSEELFSDNENNFVFQVANERNN
  LALGNTKELHETDLTCVNEPIFKNSTMVLYGDTGDKQATQVSIKKDLVYVLAEENKNSVKQHIKMTLGQDLKSDI
  SLNIDKIPEKNNDYMNKWAGLLGPISNHSFGGSFRTASNKEIKLSEHNIKKSKMFFKDIEEQYPTSLACVEIVNT
  LALDNQKKLSKPQSINTVSAHLQSSVVVSDCKNSHITPQMLFSKQDFNSNHNLTPSQKAEITELSTILEESGSQF
  EFTQFRKPSYILQKSTFEVPENQMTILKTTSEECRDADLHVIMNAPSIGQVDSSKQFEGTVEIKRKFAGLLKNDC
  NKSASGYLTDENEVGFRGFYSAHGTKLNVSTEALQKAVKLFSDIENISEETSAEVHPISLSSSKCHDSVVSMFKI
  ENHNDKTVSEKNNKCQLILQNNIEMTTGTFVEEITENYKRNTENEDNKYTAASRNSHNLEFDGSDSSKNDTVCIH
  KDETDLLFTDQHNICLKLSGQFMKEGNTQIKEDLSDLTFLEVAKAQEACHGNTSNKEQLTATKTEQNIKDFETSD
  TFFQTASGKNISVAKESFNKIVNFFDQKPEELHNFSLNSELHSDIRKNKMDILSYEETDIVKHKILKESVPVGTG
  NQLVTFQGQPERDEKIKEPTLLGFHTASGKKVKIAKESLDKVKNLFDEKEQGTSEITSFSHQWAKTLKYREACKD
  LELACETIEITAAPKCKEMQNSLNNDKNLVSIETVVPPKLLSDNLCRQTENLKTSKSIFLKVKVHENVEKETAKS
  PATCYTNQSPYSVIENSALAFYTSCSRKTSVSQTSLLEAKKWLREGIFDGQPERINTADYVGNYLYENNSNSTIA
  ENDKNHLSEKQDTYLSNSSMSNSYSYHSDEVYNDSGYLSKNKLDSGIEPVLKNVEDQKNTSFSKVISNVKDANAY
  PQTVNEDICVEELVTSSSPCKNKNAAIKLSISNSNNFEVGPPAFRIASGKIVCVSHETIKKVKDIFTDSFSKVIK
  ENNENKSKICQTKIMAGCYEALDDSEDILHNSLDNDECSTHSHKVFADIQSEEILQHNQNMSGLEKVSKISPCDV
  SLETSDICKCSIGKLHKSVSSANTCGIFSTASGKSVQVSDASLQNARQVFSEIEDSTKQVFSKVLFKSNEHSDQL
  TREENTAIRTPEHLISQKGFSYNVVNSSAFSGFSTASGKQVSILESSLHKVKGVLEEFDLIRTEHSLHYSPTSRQ
  NVSKILPRVDKRNPEHCVNSEMEKTCSKEFKLSNNLNVEGGSSENNHSIKVSPYLSQFQQDKQQLVLGTKVSLVE
  NIHVLGKEQASPKNVKMEIGKTETFSDVPVKTNIEVCSTYSKDSENYFETEAVEIAKAFMEDDELTDSKLPSHAT
  HSLFTCPENEEMVLSNSRIGKRRGEPLILVGEPSIKRNLLNEFDRIIENQEKSLKASKSTPDGTIKDRRLFMHHV
  SLEPITCVPFRTTKERQEIQNPNFTAPGQEFLSKSHLYEHLTLEKSSSNLAVSGHPFYQVSATRNEKMRHLITTG
  RPTKVFVPPFKTKSHFHRVEQCVRNINLEENRQKQNIDGHGSDDSKNKINDNEIHQFNKNNSNQAAAVTFTKCEE
  EPLDLITSLQNARDIQDMRIKKKQRQRVFPQPGSLYLAKTSTLPRISLKAAVGGQVPSACSHKQLYTYGVSKHCI
  KINSKNAESFQFHTEDYFGKESLWTGKGIQLADGGWLIPSNDGKAGKEEFYRALCDTPGVDPKLISRIWVYNHYR
  WIIWKLAAMECAFPKEFANRCLSPERVLLQLKYRYDTEIDRSRRSAIKKIMERDDTAAKTLVLCVSDIISLSANI
  SETSSNKTSSADTQKVAIIELTDGWYAVKAQLDPPLLAVLKNGRLTVGQKIILHGAELVGSPDACTPLEAPESLM
  LKISANSTRPARWYTKLGFFPDPRPFPLPLSSLFSDGGNVGCVDVIIQRAYPIQWMEKTSSGLYIFRNEREEEKE
  AAKYVEAQQKRLEALFTKIQEEFEEHEENTTKPYLPSRALTRQQVRALQDGAELYEAVKNAADPAYLEGYFSEEQ
  LRALNNHRQMLNDKKQAQIQLEIRKAMESAEQKEQGLSRDVTTVWKLRIVSYSKKEKDSVILSIWRPSSDLYSLL
  TEGKRYRIYHLATSKSKSKSERANIQLAATKKTQYQQLPVSDEILFQIYQPREPLHFSKFLDPDFQPSCSEVDLI
  GFVVSVVKKTGLAPFVYLSDECYNLLAIKFWIDLNEDIIKPHMLIAASNLQWRPESKSGLLTLFAGDFSVFSASP
  KEGHFQETFNKMKNTVENIDILCNEAENKLMHILHANDPKWSTPTKDCTSGPYTAQIIPGTGNKLLMSSPNCEIY
  YQSPLSLCMAKRKSVSTPVSAQMTSKSCKGEKEIDDQKNCKKRRALDFLSRLPLPPPVSPICTFVSPAAQKAFQP
  PRSCGTKYETPIKKKELNSPQMTPFKKFNEISLLESNSIADEELALINTQALLSGSTGEKQFISVSESTRTAPTS
  SEDYLRLKRRCTTSLIKEQESSQASTEECEKNKQDTITTKKYI

• Structural information:
  • Interpro: IPR015525  IPR015252  IPR036315  IPR015187  IPR015188   IPR002093  IPR012340  IPR015205  
  • Prosite: PS50138
  • CDD: cd04493 cd04495
  • PDB: 1N0W 3EU7
  • PDBsum: 1N0W 3EU7
  • DIP: 24214
  • STRING: ENSP00000369497
• Other Databases: GeneCards:  BRCA2  Malacards:  BRCA2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000722	telomere maintenance via recombination	IEA	biological process
GO:0000724	double-strand break repair via homologous recombination	IDA	biological process
GO:0000724	double-strand break repair via homologous recombination	IMP	biological process
GO:0000731	DNA synthesis involved in DNA repair	TAS	biological process
GO:0000732	strand displacement	TAS	biological process
GO:0000784	nuclear chromosome, telomeric region	IDA	cellular component
GO:0000910	cytokinesis	IDA	biological process
GO:0001556	oocyte maturation	IEA	biological process
GO:0001833	inner cell mass cell proliferation	IEA	biological process
GO:0002020	protease binding	IPI	molecular function
GO:0003697	single-stranded DNA binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0006289	nucleotide-excision repair	IMP	biological process
GO:0006302	double-strand break repair	IMP	biological process
GO:0006978	DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator	IEA	biological process
GO:0007141	male meiosis I	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0007569	cell aging	IEA	biological process
GO:0007584	response to nutrient	IEA	biological process
GO:0008585	female gonad development	IEA	biological process
GO:0010165	response to X-ray	IEA	biological process
GO:0010225	response to UV-C	IEA	biological process
GO:0010332	response to gamma radiation	IEA	biological process
GO:0010484	H3 histone acetyltransferase activity	IDA	molecular function
GO:0010485	H4 histone acetyltransferase activity	IDA	molecular function
GO:0030097	hemopoiesis	IEA	biological process
GO:0030141	secretory granule	IDA	cellular component
GO:0030879	mammary gland development	IEA	biological process
GO:0031052	chromosome breakage	IEA	biological process
GO:0031619	homologous chromosome orientation involved in meiotic metaphase I plate congression	IEA	biological process
GO:0032355	response to estradiol	IEA	biological process
GO:0032465	regulation of cytokinesis	IEA	biological process
GO:0033593	BRCA2-MAGE-D1 complex	IDA	cellular component
GO:0033600	negative regulation of mammary gland epithelial cell proliferation	IDA	biological process
GO:0035264	multicellular organism growth	IEA	biological process
GO:0042771	intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IEA	biological process
GO:0043015	gamma-tubulin binding	IPI	molecular function
GO:0043234	protein complex	IDA	cellular component
GO:0043966	histone H3 acetylation	IDA	biological process
GO:0043967	histone H4 acetylation	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045931	positive regulation of mitotic cell cycle	IEA	biological process
GO:0048478	replication fork protection	IEA	biological process
GO:0051298	centrosome duplication	IMP	biological process
GO:0070200	establishment of protein localization to telomere	IDA	biological process
GO:1990426	mitotic recombination-dependent replication fork processing	IMP	biological process
GO:0004402	histone acetyltransferase activity	IDA	molecular function
GO:0000722	telomere maintenance via recombination	IEA	biological process
GO:0000724	double-strand break repair via homologous recombination	IEA	biological process
GO:0000724	double-strand break repair via homologous recombination	IEA	biological process
GO:0000724	double-strand break repair via homologous recombination	IDA	biological process
GO:0000724	double-strand break repair via homologous recombination	IMP	biological process
GO:0000731	DNA synthesis involved in DNA repair	TAS	biological process
GO:0000732	strand displacement	TAS	biological process
GO:0000784	nuclear chromosome, telomeric region	IDA	cellular component
GO:0000910	cytokinesis	IDA	biological process
GO:0001556	oocyte maturation	IEA	biological process
GO:0001833	inner cell mass cell proliferation	IEA	biological process
GO:0002020	protease binding	IPI	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003697	single-stranded DNA binding	IEA	molecular function
GO:0003697	single-stranded DNA binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0006281	DNA repair	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0006289	nucleotide-excision repair	IMP	biological process
GO:0006302	double-strand break repair	IEA	biological process
GO:0006302	double-strand break repair	IMP	biological process
GO:0006310	DNA recombination	IEA	biological process
GO:0006310	DNA recombination	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0006978	DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator	IEA	biological process
GO:0007049	cell cycle	IEA	biological process
GO:0007141	male meiosis I	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0007569	cell aging	IEA	biological process
GO:0007584	response to nutrient	IEA	biological process
GO:0008283	cell proliferation	IEA	biological process
GO:0008585	female gonad development	IEA	biological process
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage	IEA	biological process
GO:0010165	response to X-ray	IEA	biological process
GO:0010225	response to UV-C	IEA	biological process
GO:0010332	response to gamma radiation	IEA	biological process
GO:0010484	H3 histone acetyltransferase activity	IDA	molecular function
GO:0010485	H4 histone acetyltransferase activity	IDA	molecular function
GO:0030097	hemopoiesis	IEA	biological process
GO:0030141	secretory granule	IDA	cellular component
GO:0030879	mammary gland development	IEA	biological process
GO:0031052	chromosome breakage	IEA	biological process
GO:0031619	homologous chromosome orientation involved in meiotic metaphase I plate congression	IEA	biological process
GO:0032355	response to estradiol	IEA	biological process
GO:0032465	regulation of cytokinesis	IEA	biological process
GO:0033593	BRCA2-MAGE-D1 complex	IDA	cellular component
GO:0033600	negative regulation of mammary gland epithelial cell proliferation	IDA	biological process
GO:0035264	multicellular organism growth	IEA	biological process
GO:0042771	intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IEA	biological process
GO:0043009	chordate embryonic development	IEA	biological process
GO:0043015	gamma-tubulin binding	IPI	molecular function
GO:0043234	protein complex	IDA	cellular component
GO:0043966	histone H3 acetylation	IDA	biological process
GO:0043967	histone H4 acetylation	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045931	positive regulation of mitotic cell cycle	IEA	biological process
GO:0048478	replication fork protection	IEA	biological process
GO:0051276	chromosome organization	IEA	biological process
GO:0051298	centrosome duplication	IMP	biological process
GO:0070200	establishment of protein localization to telomere	IEA	biological process
GO:0070200	establishment of protein localization to telomere	IDA	biological process
GO:1990426	mitotic recombination-dependent replication fork processing	IMP	biological process
GO:0004402	histone acetyltransferase activity	IDA	molecular function
GO:0000724	double-strand break repair via homologous recombination	IDA	biological process
GO:0000724	double-strand break repair via homologous recombination	IMP	biological process
GO:0000731	DNA synthesis involved in DNA repair	TAS	biological process
GO:0000732	strand displacement	TAS	biological process
GO:0000784	nuclear chromosome, telomeric region	IDA	cellular component
GO:0000910	cytokinesis	IDA	biological process
GO:0002020	protease binding	IPI	molecular function
GO:0003697	single-stranded DNA binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0006289	nucleotide-excision repair	IMP	biological process
GO:0006302	double-strand break repair	IMP	biological process
GO:0010484	H3 histone acetyltransferase activity	IDA	molecular function
GO:0010485	H4 histone acetyltransferase activity	IDA	molecular function
GO:0030141	secretory granule	IDA	cellular component
GO:0033593	BRCA2-MAGE-D1 complex	IDA	cellular component
GO:0033600	negative regulation of mammary gland epithelial cell proliferation	IDA	biological process
GO:0043015	gamma-tubulin binding	IPI	molecular function
GO:0043234	protein complex	IDA	cellular component
GO:0043966	histone H3 acetylation	IDA	biological process
GO:0043967	histone H4 acetylation	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0051298	centrosome duplication	IMP	biological process
GO:0070200	establishment of protein localization to telomere	IDA	biological process
GO:1990426	mitotic recombination-dependent replication fork processing	IMP	biological process
GO:0004402	histone acetyltransferase activity	IDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05212	Pancreatic cancer
hsa05224	Breast cancer

Diseases

Associated diseases	References
Cancer (Adenocarcinoma)	GAD: 18437078
Cancer (basal cell)	GAD: 20809262
Cancer (bladder)	GAD: 16956909
Cancer (cervical)	GAD: 19012493
Cancer (Chronic Lymphocytic Leukemia)	GAD: 21121903
Cancer (fallopian tube)	GAD: 20452659
Cancer (head and neck)	GAD: 19584075
Cancer (lung)	GAD: 12917199
Cancer (lymphoma)	GAD: 18830263
Cancer (melanoma)	GAD: 19799798
Cancer (ovarian)	GAD: 12883740
Cancer (pancreas adenocarcinomas)	GAD: 19548527
Cancer (pancreatic)	GAD: 12120227
Cancer (prostate)	GAD: 16638864
Cancer (Squamous cell)	GAD: 12670525
Cancer (stomach)	GAD: 14647210
Cancer (uveal melanoma)	GAD: 12556369
Neoplastic syndromes	GAD: 11950811
Cancer (breast)	GAD: 12036913
Cancer (pancreatic)	KEGG: H00019
Cancer (ovarian)	KEGG: H00027
Cancer (brain)	GAD: 20610542
Cancer (colorectal)	GAD: 19536092
Cancer (cystadenocarcinoma)	GAD: 19543244
Cancer (endometrial)	GAD: 20850175
Cancer (epithelial ovarian)	GAD: 19064572
Cancer (esophageal)	GAD: 14647438
Cancer (eye)	GAD: 12385017
Fanconi anemia	GAD: 20589654
Hodgkin disease	GAD: 19573080
Multiple sclerosis	GAD: 20522537
Abortion	GAD: 20587610
Oligozoospermia	GAD: 16257105
Ovarian diseases	GAD: 19258944
Oligoasthenoteratospermia	MIK: 18155199
Male factor infertility	MIK: 18155199
Azoospermia or oligozoospermia	MIK: 16257105
Azoospermia	GAD: 20378615
Chronic obstructive pulmonary disease (COPD)	GAD: 19625176
Chronic renal failure	GAD: 21085059
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Associated with meiotic impairment and infertility	MIK: 14660434
Female Infertility	MIK: 18155199
Oligoasthenoteratospermia	MIK: 18155199
Male infertility	MIK: 16257105
Azoospermia	MIK: 16257105
Severe oligozoospermia	MIK: 16257105

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
18155199	Female Infertility, Oligoasthenoteratospermia	BRCA1(c.5382insc exon 20 codon 1755)	Ashkena zi Jewi sh woma n	1 women with infertility	Male infertility, Female infertility
16257105	Idiopathic male infertility with azoospermia or severe oligozoospermia	N372H in BRCA2		490 (240 infertile patients with idiopathic azoospermia or severe oligozoospermia, 250 fathered controls)	Male infertility
14660434	Associated with meiotic impairment and infertility				Male infertility
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881