Endometriosis Knowledgebase

Search Result

Gene id

675

Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed references

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 suppr,

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-strand DNA repair. The BRCA2 protein contains several copies of a 70 aa motif called the BRC motif, and these motifs mediate binding to the RAD51 recombinase which functions in DNA repair. BRCA2 is considered a tumor suppressor gene, as tumors with BRCA2 mutations generally exhibit loss of heterozygosity (LOH) of the wild-type allele. [provided by RefSeq, Dec 2008]

OMIM

600185

SNPs

rs1799968

Strand:    Allele origin: G(germline)/T(germline)  Allele change: G/T   Mutation type: snp

AAB07223.1   p.Thr3137=
CM000675.2   g.32394843T>G
NC_000013.10   g.32968980T>G
NC_000013.11   g.32394843T>G
NG_012772.3   g.84364T>G
NM_000059.3   c.9411T>G
NP_000050.2   p.Thr3137=
U43746.1   c.9411T>G
Clinical Significance: Likely benign

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: Highest levels of expression in breast and thymus, with slightly lower levels in lung, ovary and spleen.

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

Motifs	Nuclear export(2682-2698) with SEM1.(by-interaction)
Interpro:	IPR015525 IPR015252 IPR015187 IPR015188 IPR002093 IPR012340 IPR015205
Prosite:	PS50138
Pfam:	PF09169 PF09103 PF09104 PF00634 PF09121
PDB:	1N0W 3EU7
PDBsum:	1N0W 3EU7
DIP:	24214
MINT:	1540184
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 repai r via homologous recombin ation	IDA	biological_process
GO:0000724	double-strand break repai r via homologous recombin ation	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, telom eric region	IDA	cellular_component
GO:0000910	cytokinesis	IDA	biological_process
GO:0001556	oocyte maturation	IEA	biological_process
GO:0001833	inner cell mass cell prol iferation	IEA	biological_process
GO:0002020	protease binding	IPI	molecular_function
GO:0003697	single-stranded DNA bindi ng	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 repai r	IMP	biological_process
GO:0006302	double-strand break repai r	IMP	biological_process
GO:0006978	DNA damage response, sign al transduction by p53 cl ass mediator resulting in transcription of p21 cla ss 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 radiati on	IEA	biological_process
GO:0010484	H3 histone acetyltransfer ase activity	IDA	molecular_function
GO:0010485	H4 histone acetyltransfer ase 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 ori entation involved in meio tic metaphase I plate con gression	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 ma mmary gland epithelial ce ll proliferation	IDA	biological_process
GO:0035264	multicellular organism gr owth	IEA	biological_process
GO:0042771	intrinsic apoptotic signa ling pathway in response to DNA damage by p53 clas s 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 tr anscription, DNA-template d	IDA	biological_process
GO:0045931	positive regulation of mi totic cell cycle	IEA	biological_process
GO:0048478	replication fork protecti on	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-dep endent replication fork p rocessing	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 repai r via homologous recombin ation	IEA	biological_process
GO:0000724	double-strand break repai r via homologous recombin ation	IEA	biological_process
GO:0000724	double-strand break repai r via homologous recombin ation	IDA	biological_process
GO:0000724	double-strand break repai r via homologous recombin ation	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, telom eric region	IDA	cellular_component
GO:0000910	cytokinesis	IDA	biological_process
GO:0001556	oocyte maturation	IEA	biological_process
GO:0001833	inner cell mass cell prol iferation	IEA	biological_process
GO:0002020	protease binding	IPI	molecular_function
GO:0003677	DNA binding	IEA	molecular_function
GO:0003697	single-stranded DNA bindi ng	IEA	molecular_function
GO:0003697	single-stranded DNA bindi ng	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 ce nter	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 repai r	IMP	biological_process
GO:0006302	double-strand break repai r	IEA	biological_process
GO:0006302	double-strand break repai r	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, sign al transduction by p53 cl ass mediator resulting in transcription of p21 cla ss 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 signa ling 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 radiati on	IEA	biological_process
GO:0010484	H3 histone acetyltransfer ase activity	IDA	molecular_function
GO:0010485	H4 histone acetyltransfer ase 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 ori entation involved in meio tic metaphase I plate con gression	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 ma mmary gland epithelial ce ll proliferation	IDA	biological_process
GO:0035264	multicellular organism gr owth	IEA	biological_process
GO:0042771	intrinsic apoptotic signa ling pathway in response to DNA damage by p53 clas s mediator	IEA	biological_process
GO:0043009	chordate embryonic develo pment	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 tr anscription, DNA-template d	IDA	biological_process
GO:0045931	positive regulation of mi totic cell cycle	IEA	biological_process
GO:0048478	replication fork protecti on	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-dep endent replication fork p rocessing	IMP	biological_process
GO:0004402	histone acetyltransferase activity	IDA	molecular_function
GO:0000724	double-strand break repai r via homologous recombin ation	IDA	biological_process
GO:0000724	double-strand break repai r via homologous recombin ation	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, telom eric region	IDA	cellular_component
GO:0000910	cytokinesis	IDA	biological_process
GO:0002020	protease binding	IPI	molecular_function
GO:0003697	single-stranded DNA bindi ng	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 repai r	IMP	biological_process
GO:0006302	double-strand break repai r	IMP	biological_process
GO:0010484	H3 histone acetyltransfer ase activity	IDA	molecular_function
GO:0010485	H4 histone acetyltransfer ase 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 ma mmary gland epithelial ce ll 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 tr anscription, DNA-template d	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-dep endent replication fork p rocessing	IMP	biological_process
GO:0004402	histone acetyltransferase activity	IDA	molecular_function

KEGG pathways

hsa05200  Pathways in cancer
hsa05224  Breast cancer
hsa05212  Pancreatic cancer
hsa03460  Fanconi anemia pathway
hsa03440  Homologous recombination

Diseases

Associated diseases	References
Breast cancer	KEGG: H00031
Endometriosis	PMID: 23685242
Fallopian tube cancer	KEGG: H01554
Fanconi anemia	KEGG: H00238
Oligoasthenoteratospermia	PMID: 18155199
Oligozoospermia	PMID: 16257105
Ovarian cancer	KEGG: H00027
Pancreatic cancer	KEGG: H00019
Endometriosis	INFBASE23685242

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
23685242	Endometrio sis	G10398A, A13603A/G, T10400C					Show abstract