Male Infertility Database

Search Result

Gene id

4683

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed

Gene Summary

Gene Symbol

NBN Gene UCSC Ensembl

Aliases

AT-V1, AT-V2, ATV, NBS, NBS1, P95

Gene name

nibrin

Alternate names

nibrin, Nijmegen breakage syndrome 1 (nibrin), cell cycle regulatory protein p95, p95 protein of the MRE11/RAD50 complex,

Gene location

8q21.3 (89984723: 89933335) Exons: 20 NC_000008.11

Gene summary(Entrez)

Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member

OMIM

602667

Protein Summary

Protein general information

O60934

Name: Nibrin (Cell cycle regulatory protein p95) (Nijmegen breakage syndrome protein 1)

Length: 754 Mass: 84,959

Sequence

MWKLLPAAGPAGGEPYRLLTGVEYVVGRKNCAILIENDQSISRNHAVLTANFSVTNLSQTDEIPVLTLKDNSKYG
TFVNEEKMQNGFSRTLKSGDGITFGVFGSKFRIEYEPLVACSSCLDVSGKTALNQAILQLGGFTVNNWTEECTHL
VMVSVKVTIKTICALICGRPIVKPEYFTEFLKAVESKKQPPQIESFYPPLDEPSIGSKNVDLSGRQERKQIFKGK
TFIFLNAKQHKKLSSAVVFGGGEARLITEENEEEHNFFLAPGTCVVDTGITNSQTLIPDCQKKWIQSIMDMLQRQ
GLRPIPEAEIGLAVIFMTTKNYCDPQGHPSTGLKTTTPGPSLSQGVSVDEKLMPSAPVNTTTYVADTESEQADTW
DLSERPKEIKVSKMEQKFRMLSQDAPTVKESCKTSSNNNSMVSNTLAKMRIPNYQLSPTKLPSINKSKDRASQQQ
QTNSIRNYFQPSTKKRERDEENQEMSSCKSARIETSCSLLEQTQPATPSLWKNKEQHLSENEPVDTNSDNNLFTD
TDLKSIVKNSASKSHAAEKLRSNKKREMDDVAIEDEVLEQLFKDTKPELEIDVKVQKQEEDVNVRKRPRMDIETN
DTFSDEAVPESSKISQENEIGKKRELKEDSLWSAKEISNNDKLQDDSEMLPKKLLLTEFRSLVIKNSTSRNPSGI
NDDYGQLKNFKKFKKVTYPGAGKLPHIIGGSDLIAHHARKNTELEEWLRQEMEVQNQHAKEESLADDLFRYNPYL
KRRR

Structural information

Protein Domains	FHA. (24-83) BRCT. (105-181)
Interpro:	IPR001357 IPR036420 IPR013908 IPR000253 IPR032429 IPR016592 IPR008984
Prosite:	PS50006
CDD:	cd00027 cd00060
PDB:	5WQD
PDBsum:	5WQD
DIP:	33605
MINT:
STRING:	ENSP00000265433

Other Databases

GeneCards: NBN Malacards: NBN

Gene ontology

Expand All | Collapse All

GO accession	Term name	Evidence code	Go category
GO:0000077	DNA damage checkpoint	IDA	biological process
GO:0000723	telomere maintenance	IMP	biological process
GO:0000724	double-strand break repai r via homologous recombin ation	IBA	biological process
GO:0000724	double-strand break repai r via homologous recombin ation	TAS	biological process
GO:0000729	DNA double-strand break p rocessing	TAS	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:0000784	nuclear chromosome, telom eric region	IDA	cellular component
GO:0001832	blastocyst growth	IEA	biological process
GO:0003684	damaged DNA binding	IBA	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: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: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: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: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: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: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: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:0005657	replication fork	IEA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006260	DNA replication	TAS	biological process
GO:0006260	DNA replication	TAS	biological process
GO:0006302	double-strand break repai r	IDA	biological process
GO:0006303	double-strand break repai r via nonhomologous end j oining	TAS	biological process
GO:0007050	cell cycle arrest	TAS	biological process
GO:0007093	mitotic cell cycle checkp oint	IDA	biological process
GO:0007095	mitotic G2 DNA damage che ckpoint	IDA	biological process
GO:0008134	transcription factor bind ing	IPI	molecular function
GO:0008283	cell proliferation	IEA	biological process
GO:0016605	PML body	IDA	cellular component
GO:0016605	PML body	IDA	cellular component
GO:0030174	regulation of DNA-depende nt DNA replication initia tion	TAS	biological process
GO:0030330	DNA damage response, sign al transduction by p53 cl ass mediator	TAS	biological process
GO:0030870	Mre11 complex	IDA	cellular component
GO:0030870	Mre11 complex	IDA	cellular component
GO:0031860	telomeric 3' overhang for mation	IMP	biological process
GO:0031954	positive regulation of pr otein autophosphorylation	IDA	biological process
GO:0032206	positive regulation of te lomere maintenance	IMP	biological process
GO:0032508	DNA duplex unwinding	IMP	biological process
GO:0033674	positive regulation of ki nase activity	IDA	biological process
GO:0035861	site of double-strand bre ak	IDA	cellular component
GO:0042405	nuclear inclusion body	IDA	cellular component
GO:0045190	isotype switching	IEA	biological process
GO:0047485	protein N-terminus bindin g	IPI	molecular function
GO:0050885	neuromuscular process con trolling balance	IEA	biological process
GO:0051321	meiotic cell cycle	IEA	biological process
GO:0097193	intrinsic apoptotic signa ling pathway	IEA	biological process
GO:1901796	regulation of signal tran sduction by p53 class med iator	TAS	biological process
GO:1904354	negative regulation of te lomere capping	IMP	biological process
GO:0000784	nuclear chromosome, telom eric region	ISS	cellular component
GO:0003684	damaged DNA binding	IC	molecular function
GO:0004003	ATP-dependent DNA helicas e activity	IMP	molecular function
GO:0000077	DNA damage checkpoint	IDA	biological process
GO:0000723	telomere maintenance	IEA	biological process
GO:0000723	telomere maintenance	IMP	biological process
GO:0000724	double-strand break repai r via homologous recombin ation	IBA	biological process
GO:0000724	double-strand break repai r via homologous recombin ation	TAS	biological process
GO:0000729	DNA double-strand break p rocessing	TAS	biological process
GO:0000731	DNA synthesis involved in DNA repair	TAS	biological process
GO:0000732	strand displacement	TAS	biological process
GO:0000781	chromosome, telomeric reg ion	IEA	cellular component
GO:0000781	chromosome, telomeric reg ion	IEA	cellular component
GO:0000784	nuclear chromosome, telom eric region	IEA	cellular component
GO:0000784	nuclear chromosome, telom eric region	IDA	cellular component
GO:0000784	nuclear chromosome, telom eric region	IDA	cellular component
GO:0001701	in utero embryonic develo pment	IEA	biological process
GO:0001832	blastocyst growth	IEA	biological process
GO:0003684	damaged DNA binding	IEA	molecular function
GO:0003684	damaged DNA binding	IBA	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	IEA	cellular component
GO:0005634	nucleus	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: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: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: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: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: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: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:0005657	replication fork	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006260	DNA replication	TAS	biological process
GO:0006260	DNA replication	TAS	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0006302	double-strand break repai r	IDA	biological process
GO:0006303	double-strand break repai r via nonhomologous end j oining	TAS	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:0007049	cell cycle	IEA	biological process
GO:0007050	cell cycle arrest	TAS	biological process
GO:0007093	mitotic cell cycle checkp oint	IEA	biological process
GO:0007093	mitotic cell cycle checkp oint	IDA	biological process
GO:0007095	mitotic G2 DNA damage che ckpoint	IEA	biological process
GO:0007095	mitotic G2 DNA damage che ckpoint	IDA	biological process
GO:0008134	transcription factor bind ing	IPI	molecular function
GO:0008283	cell proliferation	IEA	biological process
GO:0016605	PML body	IEA	cellular component
GO:0016605	PML body	IEA	cellular component
GO:0016605	PML body	IDA	cellular component
GO:0016605	PML body	IDA	cellular component
GO:0030174	regulation of DNA-depende nt DNA replication initia tion	TAS	biological process
GO:0030330	DNA damage response, sign al transduction by p53 cl ass mediator	TAS	biological process
GO:0030870	Mre11 complex	IEA	cellular component
GO:0030870	Mre11 complex	IDA	cellular component
GO:0030870	Mre11 complex	IDA	cellular component
GO:0031860	telomeric 3' overhang for mation	IMP	biological process
GO:0031954	positive regulation of pr otein autophosphorylation	IDA	biological process
GO:0032206	positive regulation of te lomere maintenance	IMP	biological process
GO:0032508	DNA duplex unwinding	IMP	biological process
GO:0033674	positive regulation of ki nase activity	IDA	biological process
GO:0035861	site of double-strand bre ak	IDA	cellular component
GO:0042405	nuclear inclusion body	IDA	cellular component
GO:0045190	isotype switching	IEA	biological process
GO:0047485	protein N-terminus bindin g	IPI	molecular function
GO:0050885	neuromuscular process con trolling balance	IEA	biological process
GO:0051321	meiotic cell cycle	IEA	biological process
GO:0097193	intrinsic apoptotic signa ling pathway	IEA	biological process
GO:1901796	regulation of signal tran sduction by p53 class med iator	TAS	biological process
GO:1904354	negative regulation of te lomere capping	IMP	biological process
GO:0000784	nuclear chromosome, telom eric region	ISS	cellular component
GO:0003684	damaged DNA binding	IC	molecular function
GO:0004003	ATP-dependent DNA helicas e activity	IMP	molecular function
GO:0000077	DNA damage checkpoint	IDA	biological process
GO:0000723	telomere maintenance	IMP	biological process
GO:0000724	double-strand break repai r via homologous recombin ation	IBA	biological process
GO:0000724	double-strand break repai r via homologous recombin ation	TAS	biological process
GO:0000729	DNA double-strand break p rocessing	TAS	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:0000784	nuclear chromosome, telom eric region	IDA	cellular component
GO:0003684	damaged DNA binding	IBA	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: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: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: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: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: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: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: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:0005730	nucleolus	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006260	DNA replication	TAS	biological process
GO:0006260	DNA replication	TAS	biological process
GO:0006302	double-strand break repai r	IDA	biological process
GO:0006303	double-strand break repai r via nonhomologous end j oining	TAS	biological process
GO:0007050	cell cycle arrest	TAS	biological process
GO:0007093	mitotic cell cycle checkp oint	IDA	biological process
GO:0007095	mitotic G2 DNA damage che ckpoint	IDA	biological process
GO:0008134	transcription factor bind ing	IPI	molecular function
GO:0016605	PML body	IDA	cellular component
GO:0016605	PML body	IDA	cellular component
GO:0030174	regulation of DNA-depende nt DNA replication initia tion	TAS	biological process
GO:0030330	DNA damage response, sign al transduction by p53 cl ass mediator	TAS	biological process
GO:0030870	Mre11 complex	IDA	cellular component
GO:0030870	Mre11 complex	IDA	cellular component
GO:0031860	telomeric 3' overhang for mation	IMP	biological process
GO:0031954	positive regulation of pr otein autophosphorylation	IDA	biological process
GO:0032206	positive regulation of te lomere maintenance	IMP	biological process
GO:0032508	DNA duplex unwinding	IMP	biological process
GO:0033674	positive regulation of ki nase activity	IDA	biological process
GO:0035861	site of double-strand bre ak	IDA	cellular component
GO:0042405	nuclear inclusion body	IDA	cellular component
GO:0047485	protein N-terminus bindin g	IPI	molecular function
GO:1901796	regulation of signal tran sduction by p53 class med iator	TAS	biological process
GO:1904354	negative regulation of te lomere capping	IMP	biological process
GO:0000784	nuclear chromosome, telom eric region	ISS	cellular component
GO:0003684	damaged DNA binding	IC	molecular function
GO:0004003	ATP-dependent DNA helicas e activity	IMP	molecular function

KEGG pathways

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Pathway id	Pathway name
hsa04218	Cellular senescence

Diseases

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Associated diseases	References
Cancer	GAD: 12845677
Cancer (Adenocarcinoma)	GAD: 19690177
Cancer (bladder)	GAD: 16343742
Cancer (brain)	GAD: 19151620
Cancer (breast)	GAD: 12036913
Cancer (colorectal)	GAD: 19393249
Cancer (epithelial ovarian)	GAD: 19064572
Cancer (esophageal)	GAD: 20453000
Cancer (laryngeal)	GAD: 17894553
Cancer (leukemia)	GAD: 17476281
Cancer (lung)	GAD: 16195237
Cancer (lymphoma)	GAD: 18830263
Cancer (medulloblastoma)	GAD: 18593981
Cancer (non-melanoma skin cancer)	GAD: 15914210
Cancer (ovarian)	GAD: 17695489
Cancer (prostate)	GAD: 14973119
Cancer (stomach)	GAD: 16998789
Cancer (thyroid)	GAD: 19772428
Cancer (uterine cervical)	GAD: 18949738
Leukemia	OMIM: 602667
Cancer (melanoma)	GAD: 12883362
Cleft defects	GAD: 20634891
Aplastic anemia	OMIM: 602667
Hodgkin disease	GAD: 19573080
Immunodeficiency	KEGG: H00094
Parkinson disease	GAD: 18568448
Chronic renal failure	GAD: 21085059
Nijmegen breakage syndrome (NBS)	INFBASE: 19105185
Fertilizing defects	MIK: 19105185
Chronic obstructive pulmonary disease (COPD)	GAD: 19625176
Nijmegen breakage syndrome (NBS)	MIK: 19105185
Spermatogenic defects	MIK: 31037746

PubMed references

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PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
19105185	Fertility defects, N ijmegen br eakage syn drome (NBS )			2 siblings with NBS	Male infertility, Female infertility	NBN	Show abstract
31037746	Spermatoge nic defect s			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R	Show abstract

Male Infertility knowledgebase

A repository with genes crucial for male fertility

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Gene Summary

Protein Summary

Gene ontology

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KEGG pathways

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Diseases

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PubMed references

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Male Infertility knowledgebase

A repository with genes crucial for male fertility

Search Result

Gene Summary

Protein Summary

Gene ontology

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KEGG pathways Expand All | Collapse All

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Diseases Expand All | Collapse All

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PubMed references

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KEGG pathways

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Diseases

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