• Gene id: 1029

Gene Summary

• Gene Symbol: CDKN2A   Gene   UCSC   Ensembl
• Aliases: ARF, CDK4I, CDKN2, CMM2, INK4, INK4A, MLM, MTS-1, MTS1, P14, P14ARF, P16, P16-INK4A, P16INK4, P16INK4A, P19, P19ARF, TP16
• Gene name: cyclin dependent kinase inhibitor 2A
• Alternate names: cyclin-dependent kinase inhibitor 2A, CDK4 inhibitor p16-INK4, alternative reading frame, cell cycle negative regulator beta, cyclin-dependent kinase 4 inhibitor A, cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4), multiple tumor suppre,
• Gene location: 9p21.3 (21995042: 21967751)     Exons: 8     NC_000009.12
• Gene summary(Entrez): This gene generates several transcript variants which differ in their first exons. At least three alternatively spliced variants encoding distinct proteins have been reported, two of which encode structurally related isoforms known to function as inhibito
• OMIM: 600160

Protein Summary

• Protein general information: P42771  
  • Name: Cyclin dependent kinase inhibitor 2A (Cyclin dependent kinase 4 inhibitor A) (CDK4I) (Multiple tumor suppressor 1) (MTS 1) (p16 INK4a) (p16 INK4) (p16INK4A)
  • Length: 156  
  • Mass: 16,533
• Sequence:

  MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVAELLLLHGAEPNCADP
  ATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARYLRAAAGGTRGSNHARIDAAEG
  PSDIPD

• Structural information:
  • Interpro: IPR020683  IPR036770  
  • Prosite: PS50297
  • CDD: cd00204
  • PDB: 1A5E 1BI7 1DC2 2A5E
  • PDBsum: 1A5E 1BI7 1DC2 2A5E
  • DIP: 6108
  • STRING: ENSP00000394932
• Other Databases: GeneCards:  CDKN2A  Malacards:  CDKN2A
• Protein general information: Q8N726  
  
  Name: Tumor suppressor ARF (Alternative reading frame) (ARF) (Cyclin dependent kinase inhibitor 2A) (p14ARF)
  
  Length: 132  Mass: 13,903
• Sequence: MVRRFLVTLRIRRACGPPRVRVFVVHIPRLTGEWAAPGAPAAVALVLMLLRSQRLGQQPLPRRPGHDDGQRPSGG
  AAAAPRRGAQLRRPRHSHPTRARRCPGGLPGHAGGAAPGRGAAGRARCLGPSARGPG
• Structural information:

  Interpro:	IPR010868
  DIP:	24171
  MINT:

• Other Databases: GeneCards:  CDKN2A  Malacards:  CDKN2A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000082	G1/S transition of mitotic cell cycle	IDA	biological process
GO:0001953	negative regulation of cell-matrix adhesion	IMP	biological process
GO:0004861	cyclin-dependent protein serine/threonine kinase inhibitor activity	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:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0007050	cell cycle arrest	IDA	biological process
GO:0007050	cell cycle arrest	IMP	biological process
GO:0007265	Ras protein signal transduction	IEP	biological process
GO:0008285	negative regulation of cell proliferation	IDA	biological process
GO:0008285	negative regulation of cell proliferation	IMP	biological process
GO:0008285	negative regulation of cell proliferation	IMP	biological process
GO:0008285	negative regulation of cell proliferation	IMP	biological process
GO:0019901	protein kinase binding	IPI	molecular function
GO:0030308	negative regulation of cell growth	IDA	biological process
GO:0032088	negative regulation of NF-kappaB transcription factor activity	IDA	biological process
GO:0034393	positive regulation of smooth muscle cell apoptotic process	ISS	biological process
GO:0035985	senescence-associated heterochromatin focus	IDA	cellular component
GO:0035986	senescence-associated heterochromatin focus assembly	IMP	biological process
GO:0042326	negative regulation of phosphorylation	IDA	biological process
GO:0042326	negative regulation of phosphorylation	IDA	biological process
GO:0044822	poly(A) RNA binding	IDA	molecular function
GO:0045736	negative regulation of cyclin-dependent protein serine/threonine kinase activity	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IMP	biological process
GO:0051059	NF-kappaB binding	IDA	molecular function
GO:0090398	cellular senescence	IMP	biological process
GO:0090399	replicative senescence	IMP	biological process
GO:2000111	positive regulation of macrophage apoptotic process	ISS	biological process
GO:2000774	positive regulation of cellular senescence	IMP	biological process
GO:0000082	G1/S transition of mitotic cell cycle	IDA	biological process
GO:0001953	negative regulation of cell-matrix adhesion	IMP	biological process
GO:0004861	cyclin-dependent protein serine/threonine kinase inhibitor activity	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:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0007050	cell cycle arrest	IDA	biological process
GO:0007050	cell cycle arrest	IMP	biological process
GO:0007265	Ras protein signal transduction	IEP	biological process
GO:0008285	negative regulation of cell proliferation	IDA	biological process
GO:0008285	negative regulation of cell proliferation	IMP	biological process
GO:0008285	negative regulation of cell proliferation	IMP	biological process
GO:0008285	negative regulation of cell proliferation	IMP	biological process
GO:0019901	protein kinase binding	IPI	molecular function
GO:0030308	negative regulation of cell growth	IDA	biological process
GO:0032088	negative regulation of NF-kappaB transcription factor activity	IDA	biological process
GO:0034393	positive regulation of smooth muscle cell apoptotic process	ISS	biological process
GO:0035985	senescence-associated heterochromatin focus	IDA	cellular component
GO:0035986	senescence-associated heterochromatin focus assembly	IMP	biological process
GO:0042326	negative regulation of phosphorylation	IDA	biological process
GO:0042326	negative regulation of phosphorylation	IDA	biological process
GO:0044822	poly(A) RNA binding	IDA	molecular function
GO:0045736	negative regulation of cyclin-dependent protein serine/threonine kinase activity	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IMP	biological process
GO:0051059	NF-kappaB binding	IDA	molecular function
GO:0090398	cellular senescence	IMP	biological process
GO:0090399	replicative senescence	IMP	biological process
GO:2000111	positive regulation of macrophage apoptotic process	ISS	biological process
GO:2000774	positive regulation of cellular senescence	IMP	biological process
GO:0000082	G1/S transition of mitotic cell cycle	IDA	biological process
GO:0001953	negative regulation of cell-matrix adhesion	IMP	biological process
GO:0004861	cyclin-dependent protein serine/threonine kinase inhibitor activity	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:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0007050	cell cycle arrest	IDA	biological process
GO:0007050	cell cycle arrest	IMP	biological process
GO:0007265	Ras protein signal transduction	IEP	biological process
GO:0008285	negative regulation of cell proliferation	IDA	biological process
GO:0008285	negative regulation of cell proliferation	IMP	biological process
GO:0008285	negative regulation of cell proliferation	IMP	biological process
GO:0008285	negative regulation of cell proliferation	IMP	biological process
GO:0019901	protein kinase binding	IPI	molecular function
GO:0030308	negative regulation of cell growth	IDA	biological process
GO:0032088	negative regulation of NF-kappaB transcription factor activity	IDA	biological process
GO:0034393	positive regulation of smooth muscle cell apoptotic process	ISS	biological process
GO:0035985	senescence-associated heterochromatin focus	IDA	cellular component
GO:0035986	senescence-associated heterochromatin focus assembly	IMP	biological process
GO:0042326	negative regulation of phosphorylation	IDA	biological process
GO:0042326	negative regulation of phosphorylation	IDA	biological process
GO:0044822	poly(A) RNA binding	IDA	molecular function
GO:0045736	negative regulation of cyclin-dependent protein serine/threonine kinase activity	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IMP	biological process
GO:0051059	NF-kappaB binding	IDA	molecular function
GO:0090398	cellular senescence	IMP	biological process
GO:0090399	replicative senescence	IMP	biological process
GO:2000111	positive regulation of macrophage apoptotic process	ISS	biological process
GO:2000774	positive regulation of cellular senescence	IMP	biological process
GO:0000209	protein polyubiquitination	IDA	biological process
GO:0000422	mitophagy	IMP	biological process
GO:0002039	p53 binding	IPI	molecular function
GO:0003677	DNA binding	IEA	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:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	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:0005730	nucleolus	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IMP	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006364	rRNA processing	IEA	biological process
GO:0006469	negative regulation of protein kinase activity	IMP	biological process
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	IMP	biological process
GO:0007050	cell cycle arrest	IMP	biological process
GO:0008134	transcription factor binding	IPI	molecular function
GO:0008285	negative regulation of cell proliferation	IDA	biological process
GO:0008637	apoptotic mitochondrial changes	IMP	biological process
GO:0010389	regulation of G2/M transition of mitotic cell cycle	IMP	biological process
GO:0016925	protein sumoylation	TAS	biological process
GO:0016925	protein sumoylation	TAS	biological process
GO:0019789	SUMO transferase activity	EXP	molecular function
GO:0030889	negative regulation of B cell proliferation	ISS	biological process
GO:0031647	regulation of protein stability	ISS	biological process
GO:0031648	protein destabilization	IDA	biological process
GO:0031648	protein destabilization	IDA	biological process
GO:0033088	negative regulation of immature T cell proliferation in thymus	ISS	biological process
GO:0033235	positive regulation of protein sumoylation	IMP	biological process
GO:0043065	positive regulation of apoptotic process	IMP	biological process
GO:0043234	protein complex	IDA	cellular component
GO:0043517	positive regulation of DNA damage response, signal transduction by p53 class mediator	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0046825	regulation of protein export from nucleus	IMP	biological process
GO:0048103	somatic stem cell division	ISS	biological process
GO:0050821	protein stabilization	IDA	biological process
GO:0050821	protein stabilization	IDA	biological process
GO:0051444	negative regulation of ubiquitin-protein transferase activity	ISS	biological process
GO:0051882	mitochondrial depolarization	IMP	biological process
GO:0055105	ubiquitin-protein transferase inhibitor activity	ISS	molecular function
GO:0070534	protein K63-linked ubiquitination	IDA	biological process
GO:0071158	positive regulation of cell cycle arrest	IDA	biological process
GO:0090398	cellular senescence	IMP	biological process
GO:0097371	MDM2/MDM4 family protein binding	IPI	molecular function
GO:0097371	MDM2/MDM4 family protein binding	IPI	molecular function
GO:1900182	positive regulation of protein localization to nucleus	IDA	biological process
GO:1901798	positive regulation of signal transduction by p53 class mediator	IDA	biological process
GO:1902510	regulation of apoptotic DNA fragmentation	IMP	biological process
GO:1903051	negative regulation of proteolysis involved in cellular protein catabolic process	IMP	biological process
GO:1903214	regulation of protein targeting to mitochondrion	IMP	biological process
GO:2000059	negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process	IDA	biological process
GO:0016604	nuclear body	IDA	cellular component
GO:0000209	protein polyubiquitination	IDA	biological process
GO:0000422	mitophagy	IMP	biological process
GO:0002039	p53 binding	IPI	molecular function
GO:0003677	DNA binding	IEA	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	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	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:0005730	nucleolus	IEA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IMP	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006364	rRNA processing	IEA	biological process
GO:0006469	negative regulation of protein kinase activity	IMP	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	IMP	biological process
GO:0007049	cell cycle	IEA	biological process
GO:0007050	cell cycle arrest	IEA	biological process
GO:0007050	cell cycle arrest	IMP	biological process
GO:0008134	transcription factor binding	IPI	molecular function
GO:0008285	negative regulation of cell proliferation	IEA	biological process
GO:0008285	negative regulation of cell proliferation	IDA	biological process
GO:0008637	apoptotic mitochondrial changes	IMP	biological process
GO:0010389	regulation of G2/M transition of mitotic cell cycle	IMP	biological process
GO:0016925	protein sumoylation	TAS	biological process
GO:0016925	protein sumoylation	TAS	biological process
GO:0019789	SUMO transferase activity	EXP	molecular function
GO:0030889	negative regulation of B cell proliferation	ISS	biological process
GO:0031647	regulation of protein stability	ISS	biological process
GO:0031648	protein destabilization	IDA	biological process
GO:0031648	protein destabilization	IDA	biological process
GO:0033088	negative regulation of immature T cell proliferation in thymus	ISS	biological process
GO:0033235	positive regulation of protein sumoylation	IMP	biological process
GO:0043065	positive regulation of apoptotic process	IMP	biological process
GO:0043234	protein complex	IDA	cellular component
GO:0043517	positive regulation of DNA damage response, signal transduction by p53 class mediator	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0046825	regulation of protein export from nucleus	IMP	biological process
GO:0048103	somatic stem cell division	ISS	biological process
GO:0050821	protein stabilization	IDA	biological process
GO:0050821	protein stabilization	IDA	biological process
GO:0051444	negative regulation of ubiquitin-protein transferase activity	ISS	biological process
GO:0051882	mitochondrial depolarization	IMP	biological process
GO:0055105	ubiquitin-protein transferase inhibitor activity	ISS	molecular function
GO:0070534	protein K63-linked ubiquitination	IDA	biological process
GO:0071158	positive regulation of cell cycle arrest	IDA	biological process
GO:0090398	cellular senescence	IMP	biological process
GO:0097371	MDM2/MDM4 family protein binding	IPI	molecular function
GO:0097371	MDM2/MDM4 family protein binding	IPI	molecular function
GO:1900182	positive regulation of protein localization to nucleus	IDA	biological process
GO:1901798	positive regulation of signal transduction by p53 class mediator	IDA	biological process
GO:1902510	regulation of apoptotic DNA fragmentation	IMP	biological process
GO:1903051	negative regulation of proteolysis involved in cellular protein catabolic process	IMP	biological process
GO:1903214	regulation of protein targeting to mitochondrion	IMP	biological process
GO:2000059	negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process	IDA	biological process
GO:0016604	nuclear body	IDA	cellular component
GO:0000209	protein polyubiquitination	IDA	biological process
GO:0000422	mitophagy	IMP	biological process
GO:0002039	p53 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:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	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:0005730	nucleolus	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005739	mitochondrion	IMP	cellular component
GO:0006469	negative regulation of protein kinase activity	IMP	biological process
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	IMP	biological process
GO:0007050	cell cycle arrest	IMP	biological process
GO:0008134	transcription factor binding	IPI	molecular function
GO:0008285	negative regulation of cell proliferation	IDA	biological process
GO:0008637	apoptotic mitochondrial changes	IMP	biological process
GO:0010389	regulation of G2/M transition of mitotic cell cycle	IMP	biological process
GO:0016925	protein sumoylation	TAS	biological process
GO:0016925	protein sumoylation	TAS	biological process
GO:0019789	SUMO transferase activity	EXP	molecular function
GO:0030889	negative regulation of B cell proliferation	ISS	biological process
GO:0031647	regulation of protein stability	ISS	biological process
GO:0031648	protein destabilization	IDA	biological process
GO:0031648	protein destabilization	IDA	biological process
GO:0033088	negative regulation of immature T cell proliferation in thymus	ISS	biological process
GO:0033235	positive regulation of protein sumoylation	IMP	biological process
GO:0043065	positive regulation of apoptotic process	IMP	biological process
GO:0043234	protein complex	IDA	cellular component
GO:0043517	positive regulation of DNA damage response, signal transduction by p53 class mediator	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0046825	regulation of protein export from nucleus	IMP	biological process
GO:0048103	somatic stem cell division	ISS	biological process
GO:0050821	protein stabilization	IDA	biological process
GO:0050821	protein stabilization	IDA	biological process
GO:0051444	negative regulation of ubiquitin-protein transferase activity	ISS	biological process
GO:0051882	mitochondrial depolarization	IMP	biological process
GO:0055105	ubiquitin-protein transferase inhibitor activity	ISS	molecular function
GO:0070534	protein K63-linked ubiquitination	IDA	biological process
GO:0071158	positive regulation of cell cycle arrest	IDA	biological process
GO:0090398	cellular senescence	IMP	biological process
GO:0097371	MDM2/MDM4 family protein binding	IPI	molecular function
GO:0097371	MDM2/MDM4 family protein binding	IPI	molecular function
GO:1900182	positive regulation of protein localization to nucleus	IDA	biological process
GO:1901798	positive regulation of signal transduction by p53 class mediator	IDA	biological process
GO:1902510	regulation of apoptotic DNA fragmentation	IMP	biological process
GO:1903051	negative regulation of proteolysis involved in cellular protein catabolic process	IMP	biological process
GO:1903214	regulation of protein targeting to mitochondrion	IMP	biological process
GO:2000059	negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process	IDA	biological process
GO:0016604	nuclear body	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04110	Cell cycle
hsa04115	p53 signaling pathway
hsa04218	Cellular senescence
hsa05200	Pathways in cancer
hsa05206	MicroRNAs in cancer
hsa05203	Viral carcinogenesis
hsa05212	Pancreatic cancer
hsa05225	Hepatocellular carcinoma
hsa05214	Glioma
hsa05220	Chronic myeloid leukemia
hsa05218	Melanoma
hsa05219	Bladder cancer
hsa05223	Non-small cell lung cancer
hsa04934	Cushing syndrome
hsa05166	Human T-cell leukemia virus 1 infection
hsa05163	Human cytomegalovirus infection
hsa01524	Platinum drug resistance
hsa01522	Endocrine resistance

Diseases

Associated diseases	References
Acute lymphoblastic leukemia	GAD: 7742527, H00009
Cancer	GAD: 8603820
Cancer (Adenocarcinoma)	GAD: 19690177
Cancer (basal cell)	GAD: 19578363
Cancer (Bile duct neoplasms)	GAD: 12360471
Cancer (bladder)	GAD: 10393843
Cancer (bladder)	GAD: 12532425
Cancer (brain)	GAD: 19805672
Cancer (colorectal)	GAD: 15523694
Cancer (epithelial ovarian)	GAD: 19064572
Cancer (esophageal)	GAD: 16163549, H00017
Cancer (gastric)	GAD: 12194996
Cancer (glioma)	GAD: 9815774
Cancer (head and neck)	GAD: 20819778
Cancer (leukemia)	GAD: 17008550
Cancer (lung)	GAD: 16184554
Cancer (lymphoma)	GAD: 19594747
Cancer (melanoma)	GAD: 12459644
Cancer (meningioma)	GAD: 15824172
Cancer (nasopharyngeal)	GAD: 20512145
Cancer (ocular melanoma)	GAD: 12883368
Cancer (oligodendrogliomas)	GAD: 14507338
Cancer (oral)	GAD: 11929827
Cancer (ovarian)	GAD: 17409409
Cancer (pancreas adenocarcinomas)	GAD: 19548527
Cancer (breast)	GAD: 15122588
Cancer (salivary gland)	KEGG: H01508
Cancer (pancreatic)	KEGG: H00019
Cancer (oral)	KEGG: H00016
Malignant melanoma	KEGG: H00038
Cancer (Non-small cell lung)	KEGG: H00014
Cancer (penile)	KEGG: H00025
Osteosarcoma	KEGG: H00036
Cancer (hepatocellular)	KEGG: H00048
Malignant mesothelioma	KEGG: H00015
Cancer (gall bladder)	KEGG: H00047
Glioma	KEGG: H00042
Cancer (Laryngeal)	KEGG: H00055
Cancer (Nasopharyngeal)	KEGG: H00054
Retinoblastoma	KEGG: H01513
Cancer (tonsillar)	KEGG: H01509
Cancer (bladder)	KEGG: H00022
Cancer (pancreatic)	GAD: 14679123
Cancer (prostate)	GAD: 18459109
Cancer (Squamous cell)	GAD: 8752149, H00040
Cancer (stomach)	GAD: 16289646
Cancer (T-cell leukemia)	GAD: 10378889
Cancer (uveal melanoma)	GAD: 12556369
Cholangiocarcinoma	KEGG: H00046
Chronic myeloid leukemia	KEGG: H00004
Familial melanoma	GAD: 10417291
Brain ischemia	GAD: 18340101
Atherosclerosis	GAD: 17351341
Cardiovascular disease	GAD: 17478679
Intracranial aneurysm	GAD: 18997786
Dysplastic nevus syndrome	GAD: 20526219
Neurofibromatosis	GAD: 10595918
Hemorrhage	GAD: 20364137
Burkitt lymphoma	KEGG: H00008
Mantle cell lymphoma	KEGG: H01464
Mycosis fungoides	KEGG: H01463
Asthma	GAD: 20462933
Obesity	GAD: 20712903
Diabetes	KEGG: H00409
Diabetes	GAD: 17463248
Meningioma	KEGG: H01556
Alzheimer's disease	GAD: 18761660
Schizophrenia	GAD: 20347265
Chronic renal failure	GAD: 21085059
Adenomyosis	INFBASE: 11078826
Endometriosis	INFBASE: 16616093
Defective human spermatozoa	MIK: 26804237
Endometriosis	INFBASE: 11163832
Chronic obstructive pulmonary disease (COPD)	GAD: 19625176
Calcinosis	GAD: 20616309
Barrett's esophagus	GAD: 19043591
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Defective human spermatozoa	MIK: 26804237

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
26804237	Defective human spermatozoa			95 (46 Asthenozoospermia patients, 49 age-matched normal controls)	Male infertility	MEST  FAM50B LINE-1 P16 GNAS and H19
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881