• Gene id: 5728

Gene Summary

• Gene Symbol: PTEN   Gene   UCSC   Ensembl
• Aliases: 10q23del, BZS, CWS1, DEC, GLM2, MHAM, MMAC1, PTEN1, PTENbeta, TEP1
• Gene name: phosphatase and tensin homolog
• Alternate names: phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN, MMAC1 phosphatase and tensin homolog deleted on chromosome 10, mitochondrial PTENalpha, mitochondrial phosphatase and tensin protein alpha, mutated in mu,
• Gene location: 10q23.31 (87863437: 87971929)     Exons: 10     NC_000010.11
• Gene summary(Entrez): This gene was identified as a tumor suppressor that is mutated in a large number of cancers at high frequency. The protein encoded by this gene is a phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase. It contains a tensin like domain as well as a cata
• OMIM: 601728

Protein Summary

• Protein general information: P60484  
  • Name: Phosphatidylinositol 3,4,5 trisphosphate 3 phosphatase and dual specificity protein phosphatase PTEN (EC 3.1.3.16) (EC 3.1.3.48) (EC 3.1.3.67) (Mutated in multiple advanced cancers 1) (Phosphatase and tensin homolog)
  • Length: 403  
  • Mass: 47,166
• Sequence:

  MTAIIKEIVSRNKRRYQEDGFDLDLTYIYPNIIAMGFPAERLEGVYRNNIDDVVRFLDSKHKNHYKIYNLCAERH
  YDTAKFNCRVAQYPFEDHNPPQLELIKPFCEDLDQWLSEDDNHVAAIHCKAGKGRTGVMICAYLLHRGKFLKAQE
  ALDFYGEVRTRDKKGVTIPSQRRYVYYYSYLLKNHLDYRPVALLFHKMMFETIPMFSGGTCNPQFVVCQLKVKIY
  SSNSGPTRREDKFMYFEFPQPLPVCGDIKVEFFHKQNKMLKKDKMFHFWVNTFFIPGPEETSEKVENGSLCDQEI
  DSICSIERADNDKEYLVLTLTKNDLDKANKDKANRYFSPNFKVKLYFTKTVEEPSNPEASSSTSVTPDVSDNEPD
  HYRYSDTTDSDPENEPFDEDQHTQITKV

• Structural information:
  • Protein Domains: Phosphatase (14-185)
    C2 (190-350)
  • Interpro: IPR017361  IPR000340  IPR029021  IPR014020  IPR029023   IPR016130  IPR003595  
  • Prosite: PS51182 PS51181
  • PDB: 1D5R 2KYL 4O1V 5BUG 5BZX 5BZZ
  • PDBsum: 1D5R 2KYL 4O1V 5BUG 5BZX 5BZZ
  • DIP: 35019
  • STRING: ENSP00000361021
• Other Databases: GeneCards:  PTEN  Malacards:  PTEN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000079	regulation of cyclin-dependent protein serine/threonine kinase activity	TAS	biological process
GO:0000287	magnesium ion binding	IEA	molecular function
GO:0001525	angiogenesis	IEA	biological process
GO:0001933	negative regulation of protein phosphorylation	ISS	biological process
GO:0001933	negative regulation of protein phosphorylation	IDA	biological process
GO:0002902	regulation of B cell apoptotic process	IEA	biological process
GO:0004438	phosphatidylinositol-3-phosphatase activity	IDA	molecular function
GO:0004721	phosphoprotein phosphatase activity	IDA	molecular function
GO:0004722	protein serine/threonine phosphatase activity	IDA	molecular function
GO:0004725	protein tyrosine phosphatase activity	IDA	molecular function
GO:0005161	platelet-derived growth factor receptor 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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	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:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	TAS	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0006470	protein dephosphorylation	IDA	biological process
GO:0006470	protein dephosphorylation	TAS	biological process
GO:0006661	phosphatidylinositol biosynthetic process	TAS	biological process
GO:0006915	apoptotic process	ISS	biological process
GO:0007270	neuron-neuron synaptic transmission	ISS	biological process
GO:0007416	synapse assembly	ISS	biological process
GO:0007417	central nervous system development	ISS	biological process
GO:0007507	heart development	ISS	biological process
GO:0007568	aging	IEA	biological process
GO:0007584	response to nutrient	IEA	biological process
GO:0007611	learning or memory	ISS	biological process
GO:0007613	memory	IEA	biological process
GO:0007626	locomotory behavior	ISS	biological process
GO:0008138	protein tyrosine/serine/threonine phosphatase activity	IEA	molecular function
GO:0008283	cell proliferation	TAS	biological process
GO:0008284	positive regulation of cell proliferation	ISS	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	IDA	biological process
GO:0008289	lipid binding	IEA	molecular function
GO:0009749	response to glucose	IEA	biological process
GO:0009898	cytoplasmic side of plasma membrane	IDA	cellular component
GO:0010043	response to zinc ion	IEA	biological process
GO:0010975	regulation of neuron projection development	ISS	biological process
GO:0010997	anaphase-promoting complex binding	IPI	molecular function
GO:0014067	negative regulation of phosphatidylinositol 3-kinase signaling	TAS	biological process
GO:0016314	phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity	IDA	molecular function
GO:0016314	phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity	IDA	molecular function
GO:0016314	phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity	TAS	molecular function
GO:0016314	phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity	TAS	molecular function
GO:0016314	phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity	TAS	molecular function
GO:0016324	apical plasma membrane	IMP	cellular component
GO:0016477	cell migration	ISS	biological process
GO:0016605	PML body	IEA	cellular component
GO:0019899	enzyme binding	IPI	molecular function
GO:0019901	protein kinase binding	IEA	molecular function
GO:0021542	dentate gyrus development	ISS	biological process
GO:0021955	central nervous system neuron axonogenesis	ISS	biological process
GO:0030165	PDZ domain binding	IPI	molecular function
GO:0030165	PDZ domain binding	IPI	molecular function
GO:0030336	negative regulation of cell migration	IMP	biological process
GO:0030336	negative regulation of cell migration	IMP	biological process
GO:0030534	adult behavior	IEA	biological process
GO:0031642	negative regulation of myelination	IEA	biological process
GO:0031647	regulation of protein stability	IMP	biological process
GO:0031658	negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle	IDA	biological process
GO:0032228	regulation of synaptic transmission, GABAergic	IEA	biological process
GO:0032286	central nervous system myelin maintenance	ISS	biological process
GO:0032355	response to estradiol	IEA	biological process
GO:0032535	regulation of cellular component size	ISS	biological process
GO:0033032	regulation of myeloid cell apoptotic process	IEA	biological process
GO:0033198	response to ATP	IEA	biological process
GO:0033555	multicellular organismal response to stress	ISS	biological process
GO:0035176	social behavior	ISS	biological process
GO:0035335	peptidyl-tyrosine dephosphorylation	IEA	biological process
GO:0035749	myelin sheath adaxonal region	ISS	cellular component
GO:0042493	response to drug	IEA	biological process
GO:0042711	maternal behavior	IEA	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042995	cell projection	IDA	cellular component
GO:0042995	cell projection	IDA	cellular component
GO:0043005	neuron projection	ISS	cellular component
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0043197	dendritic spine	IEA	cellular component
GO:0043220	Schmidt-Lanterman incisure	ISS	cellular component
GO:0043491	protein kinase B signaling	ISS	biological process
GO:0043491	protein kinase B signaling	ISS	biological process
GO:0043542	endothelial cell migration	IEA	biological process
GO:0043647	inositol phosphate metabolic process	TAS	biological process
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0045471	response to ethanol	IEA	biological process
GO:0045475	locomotor rhythm	ISS	biological process
GO:0045792	negative regulation of cell size	ISS	biological process
GO:0046621	negative regulation of organ growth	ISS	biological process
GO:0046685	response to arsenic-containing substance	IEA	biological process
GO:0046855	inositol phosphate dephosphorylation	IDA	biological process
GO:0046856	phosphatidylinositol dephosphorylation	IMP	biological process
GO:0046856	phosphatidylinositol dephosphorylation	IMP	biological process
GO:0046856	phosphatidylinositol dephosphorylation	IDA	biological process
GO:0046856	phosphatidylinositol dephosphorylation	IDA	biological process
GO:0048008	platelet-derived growth factor receptor signaling pathway	IEA	biological process
GO:0048015	phosphatidylinositol-mediated signaling	TAS	biological process
GO:0048679	regulation of axon regeneration	IEA	biological process
GO:0048738	cardiac muscle tissue development	IEA	biological process
GO:0048853	forebrain morphogenesis	ISS	biological process
GO:0048854	brain morphogenesis	ISS	biological process
GO:0050680	negative regulation of epithelial cell proliferation	IEA	biological process
GO:0050765	negative regulation of phagocytosis	IEA	biological process
GO:0050771	negative regulation of axonogenesis	ISS	biological process
GO:0050821	protein stabilization	IDA	biological process
GO:0050852	T cell receptor signaling pathway	TAS	biological process
GO:0051091	positive regulation of sequence-specific DNA binding transcription factor activity	IMP	biological process
GO:0051717	inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity	IDA	molecular function
GO:0051717	inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity	TAS	molecular function
GO:0051800	phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity	IDA	molecular function
GO:0051800	phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity	TAS	molecular function
GO:0051895	negative regulation of focal adhesion assembly	IMP	biological process
GO:0051898	negative regulation of protein kinase B signaling	IMP	biological process
GO:0051898	negative regulation of protein kinase B signaling	IMP	biological process
GO:0060024	rhythmic synaptic transmission	ISS	biological process
GO:0060070	canonical Wnt signaling pathway	IDA	biological process
GO:0060074	synapse maturation	ISS	biological process
GO:0060134	prepulse inhibition	ISS	biological process
GO:0060179	male mating behavior	IEA	biological process
GO:0060291	long-term synaptic potentiation	IEA	biological process
GO:0060292	long term synaptic depression	IEA	biological process
GO:0060736	prostate gland growth	IEA	biological process
GO:0060997	dendritic spine morphogenesis	ISS	biological process
GO:0061002	negative regulation of dendritic spine morphogenesis	ISS	biological process
GO:0070373	negative regulation of ERK1 and ERK2 cascade	IMP	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IEA	biological process
GO:0071456	cellular response to hypoxia	IEA	biological process
GO:0090071	negative regulation of ribosome biogenesis	IEA	biological process
GO:0090344	negative regulation of cell aging	IEA	biological process
GO:0090394	negative regulation of excitatory postsynaptic potential	ISS	biological process
GO:0097105	presynaptic membrane assembly	ISS	biological process
GO:0097107	postsynaptic density assembly	ISS	biological process
GO:1903984	positive regulation of TRAIL-activated apoptotic signaling pathway	IMP	biological process
GO:1904668	positive regulation of ubiquitin protein ligase activity	IDA	biological process
GO:2000060	positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process	IDA	biological process
GO:2000134	negative regulation of G1/S transition of mitotic cell cycle	IDA	biological process
GO:2000463	positive regulation of excitatory postsynaptic potential	ISS	biological process
GO:2000808	negative regulation of synaptic vesicle clustering	ISS	biological process
GO:0000079	regulation of cyclin-dependent protein serine/threonine kinase activity	TAS	biological process
GO:0000287	magnesium ion binding	IEA	molecular function
GO:0001525	angiogenesis	IEA	biological process
GO:0001933	negative regulation of protein phosphorylation	IEA	biological process
GO:0001933	negative regulation of protein phosphorylation	ISS	biological process
GO:0001933	negative regulation of protein phosphorylation	IDA	biological process
GO:0002902	regulation of B cell apoptotic process	IEA	biological process
GO:0004438	phosphatidylinositol-3-phosphatase activity	IDA	molecular function
GO:0004721	phosphoprotein phosphatase activity	IEA	molecular function
GO:0004721	phosphoprotein phosphatase activity	IEA	molecular function
GO:0004721	phosphoprotein phosphatase activity	IDA	molecular function
GO:0004722	protein serine/threonine phosphatase activity	IDA	molecular function
GO:0004725	protein tyrosine phosphatase activity	IEA	molecular function
GO:0004725	protein tyrosine phosphatase activity	IEA	molecular function
GO:0004725	protein tyrosine phosphatase activity	IDA	molecular function
GO:0005161	platelet-derived growth factor receptor 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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	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:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	TAS	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0006470	protein dephosphorylation	IEA	biological process
GO:0006470	protein dephosphorylation	IDA	biological process
GO:0006470	protein dephosphorylation	TAS	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0006661	phosphatidylinositol biosynthetic process	TAS	biological process
GO:0006915	apoptotic process	ISS	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0007270	neuron-neuron synaptic transmission	IEA	biological process
GO:0007270	neuron-neuron synaptic transmission	ISS	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0007416	synapse assembly	IEA	biological process
GO:0007416	synapse assembly	ISS	biological process
GO:0007417	central nervous system development	IEA	biological process
GO:0007417	central nervous system development	ISS	biological process
GO:0007507	heart development	IEA	biological process
GO:0007507	heart development	ISS	biological process
GO:0007568	aging	IEA	biological process
GO:0007584	response to nutrient	IEA	biological process
GO:0007611	learning or memory	IEA	biological process
GO:0007611	learning or memory	ISS	biological process
GO:0007613	memory	IEA	biological process
GO:0007626	locomotory behavior	IEA	biological process
GO:0007626	locomotory behavior	ISS	biological process
GO:0008138	protein tyrosine/serine/threonine phosphatase activity	IEA	molecular function
GO:0008283	cell proliferation	TAS	biological process
GO:0008284	positive regulation of cell proliferation	IEA	biological process
GO:0008284	positive regulation of cell proliferation	ISS	biological process
GO:0008285	negative regulation of cell proliferation	IEA	biological process
GO:0008285	negative regulation of cell proliferation	IEA	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	IDA	biological process
GO:0008289	lipid binding	IEA	molecular function
GO:0009749	response to glucose	IEA	biological process
GO:0009898	cytoplasmic side of plasma membrane	IDA	cellular component
GO:0010033	response to organic substance	IEA	biological process
GO:0010035	response to inorganic substance	IEA	biological process
GO:0010043	response to zinc ion	IEA	biological process
GO:0010975	regulation of neuron projection development	IEA	biological process
GO:0010975	regulation of neuron projection development	ISS	biological process
GO:0010997	anaphase-promoting complex binding	IPI	molecular function
GO:0014067	negative regulation of phosphatidylinositol 3-kinase signaling	TAS	biological process
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0016311	dephosphorylation	IEA	biological process
GO:0016314	phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity	IEA	molecular function
GO:0016314	phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity	IEA	molecular function
GO:0016314	phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity	IEA	molecular function
GO:0016314	phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity	IDA	molecular function
GO:0016314	phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity	IDA	molecular function
GO:0016314	phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity	TAS	molecular function
GO:0016314	phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity	TAS	molecular function
GO:0016314	phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity	TAS	molecular function
GO:0016324	apical plasma membrane	IMP	cellular component
GO:0016477	cell migration	IEA	biological process
GO:0016477	cell migration	ISS	biological process
GO:0016605	PML body	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016791	phosphatase activity	IEA	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0019901	protein kinase binding	IEA	molecular function
GO:0021542	dentate gyrus development	IEA	biological process
GO:0021542	dentate gyrus development	ISS	biological process
GO:0021955	central nervous system neuron axonogenesis	IEA	biological process
GO:0021955	central nervous system neuron axonogenesis	ISS	biological process
GO:0030165	PDZ domain binding	IEA	molecular function
GO:0030165	PDZ domain binding	IEA	molecular function
GO:0030165	PDZ domain binding	IPI	molecular function
GO:0030165	PDZ domain binding	IPI	molecular function
GO:0030336	negative regulation of cell migration	IEA	biological process
GO:0030336	negative regulation of cell migration	IMP	biological process
GO:0030336	negative regulation of cell migration	IMP	biological process
GO:0030534	adult behavior	IEA	biological process
GO:0031175	neuron projection development	IEA	biological process
GO:0031642	negative regulation of myelination	IEA	biological process
GO:0031647	regulation of protein stability	IEA	biological process
GO:0031647	regulation of protein stability	IMP	biological process
GO:0031658	negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle	IDA	biological process
GO:0032228	regulation of synaptic transmission, GABAergic	IEA	biological process
GO:0032286	central nervous system myelin maintenance	IEA	biological process
GO:0032286	central nervous system myelin maintenance	ISS	biological process
GO:0032355	response to estradiol	IEA	biological process
GO:0032535	regulation of cellular component size	IEA	biological process
GO:0032535	regulation of cellular component size	ISS	biological process
GO:0033032	regulation of myeloid cell apoptotic process	IEA	biological process
GO:0033198	response to ATP	IEA	biological process
GO:0033555	multicellular organismal response to stress	IEA	biological process
GO:0033555	multicellular organismal response to stress	ISS	biological process
GO:0035176	social behavior	IEA	biological process
GO:0035176	social behavior	ISS	biological process
GO:0035335	peptidyl-tyrosine dephosphorylation	IEA	biological process
GO:0035749	myelin sheath adaxonal region	IEA	cellular component
GO:0035749	myelin sheath adaxonal region	ISS	cellular component
GO:0036294	cellular response to decreased oxygen levels	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0042711	maternal behavior	IEA	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042995	cell projection	IDA	cellular component
GO:0042995	cell projection	IDA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0043005	neuron projection	ISS	cellular component
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0043197	dendritic spine	IEA	cellular component
GO:0043220	Schmidt-Lanterman incisure	IEA	cellular component
GO:0043220	Schmidt-Lanterman incisure	ISS	cellular component
GO:0043491	protein kinase B signaling	IEA	biological process
GO:0043491	protein kinase B signaling	ISS	biological process
GO:0043491	protein kinase B signaling	ISS	biological process
GO:0043542	endothelial cell migration	IEA	biological process
GO:0043647	inositol phosphate metabolic process	TAS	biological process
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0045471	response to ethanol	IEA	biological process
GO:0045475	locomotor rhythm	IEA	biological process
GO:0045475	locomotor rhythm	ISS	biological process
GO:0045792	negative regulation of cell size	IEA	biological process
GO:0045792	negative regulation of cell size	ISS	biological process
GO:0046621	negative regulation of organ growth	IEA	biological process
GO:0046621	negative regulation of organ growth	ISS	biological process
GO:0046685	response to arsenic-containing substance	IEA	biological process
GO:0046855	inositol phosphate dephosphorylation	IEA	biological process
GO:0046855	inositol phosphate dephosphorylation	IDA	biological process
GO:0046856	phosphatidylinositol dephosphorylation	IEA	biological process
GO:0046856	phosphatidylinositol dephosphorylation	IEA	biological process
GO:0046856	phosphatidylinositol dephosphorylation	IMP	biological process
GO:0046856	phosphatidylinositol dephosphorylation	IMP	biological process
GO:0046856	phosphatidylinositol dephosphorylation	IDA	biological process
GO:0046856	phosphatidylinositol dephosphorylation	IDA	biological process
GO:0048008	platelet-derived growth factor receptor signaling pathway	IEA	biological process
GO:0048015	phosphatidylinositol-mediated signaling	TAS	biological process
GO:0048679	regulation of axon regeneration	IEA	biological process
GO:0048738	cardiac muscle tissue development	IEA	biological process
GO:0048853	forebrain morphogenesis	IEA	biological process
GO:0048853	forebrain morphogenesis	ISS	biological process
GO:0048854	brain morphogenesis	IEA	biological process
GO:0048854	brain morphogenesis	ISS	biological process
GO:0050680	negative regulation of epithelial cell proliferation	IEA	biological process
GO:0050765	negative regulation of phagocytosis	IEA	biological process
GO:0050771	negative regulation of axonogenesis	IEA	biological process
GO:0050771	negative regulation of axonogenesis	ISS	biological process
GO:0050821	protein stabilization	IDA	biological process
GO:0050852	T cell receptor signaling pathway	TAS	biological process
GO:0051091	positive regulation of sequence-specific DNA binding transcription factor activity	IMP	biological process
GO:0051717	inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity	IDA	molecular function
GO:0051717	inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity	TAS	molecular function
GO:0051726	regulation of cell cycle	IEA	biological process
GO:0051800	phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity	IEA	molecular function
GO:0051800	phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity	IDA	molecular function
GO:0051800	phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity	TAS	molecular function
GO:0051895	negative regulation of focal adhesion assembly	IEA	biological process
GO:0051895	negative regulation of focal adhesion assembly	IMP	biological process
GO:0051898	negative regulation of protein kinase B signaling	IEA	biological process
GO:0051898	negative regulation of protein kinase B signaling	IEA	biological process
GO:0051898	negative regulation of protein kinase B signaling	IMP	biological process
GO:0051898	negative regulation of protein kinase B signaling	IMP	biological process
GO:0060024	rhythmic synaptic transmission	IEA	biological process
GO:0060024	rhythmic synaptic transmission	ISS	biological process
GO:0060070	canonical Wnt signaling pathway	IDA	biological process
GO:0060074	synapse maturation	IEA	biological process
GO:0060074	synapse maturation	ISS	biological process
GO:0060134	prepulse inhibition	IEA	biological process
GO:0060134	prepulse inhibition	ISS	biological process
GO:0060179	male mating behavior	IEA	biological process
GO:0060291	long-term synaptic potentiation	IEA	biological process
GO:0060292	long term synaptic depression	IEA	biological process
GO:0060341	regulation of cellular localization	IEA	biological process
GO:0060736	prostate gland growth	IEA	biological process
GO:0060997	dendritic spine morphogenesis	IEA	biological process
GO:0060997	dendritic spine morphogenesis	ISS	biological process
GO:0061002	negative regulation of dendritic spine morphogenesis	IEA	biological process
GO:0061002	negative regulation of dendritic spine morphogenesis	ISS	biological process
GO:0070373	negative regulation of ERK1 and ERK2 cascade	IMP	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IEA	biological process
GO:0071456	cellular response to hypoxia	IEA	biological process
GO:0090071	negative regulation of ribosome biogenesis	IEA	biological process
GO:0090344	negative regulation of cell aging	IEA	biological process
GO:0090394	negative regulation of excitatory postsynaptic potential	IEA	biological process
GO:0090394	negative regulation of excitatory postsynaptic potential	ISS	biological process
GO:0097105	presynaptic membrane assembly	IEA	biological process
GO:0097105	presynaptic membrane assembly	ISS	biological process
GO:0097107	postsynaptic density assembly	IEA	biological process
GO:0097107	postsynaptic density assembly	ISS	biological process
GO:1903984	positive regulation of TRAIL-activated apoptotic signaling pathway	IMP	biological process
GO:1904668	positive regulation of ubiquitin protein ligase activity	IDA	biological process
GO:2000060	positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process	IDA	biological process
GO:2000134	negative regulation of G1/S transition of mitotic cell cycle	IDA	biological process
GO:2000463	positive regulation of excitatory postsynaptic potential	IEA	biological process
GO:2000463	positive regulation of excitatory postsynaptic potential	ISS	biological process
GO:2000808	negative regulation of synaptic vesicle clustering	IEA	biological process
GO:2000808	negative regulation of synaptic vesicle clustering	ISS	biological process
GO:2001235	positive regulation of apoptotic signaling pathway	IEA	biological process
GO:0000079	regulation of cyclin-dependent protein serine/threonine kinase activity	TAS	biological process
GO:0001933	negative regulation of protein phosphorylation	ISS	biological process
GO:0001933	negative regulation of protein phosphorylation	IDA	biological process
GO:0004438	phosphatidylinositol-3-phosphatase activity	IDA	molecular function
GO:0004721	phosphoprotein phosphatase activity	IDA	molecular function
GO:0004722	protein serine/threonine phosphatase activity	IDA	molecular function
GO:0004725	protein tyrosine phosphatase 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: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:0005654	nucleoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0006470	protein dephosphorylation	IDA	biological process
GO:0006470	protein dephosphorylation	TAS	biological process
GO:0006661	phosphatidylinositol biosynthetic process	TAS	biological process
GO:0006915	apoptotic process	ISS	biological process
GO:0007270	neuron-neuron synaptic transmission	ISS	biological process
GO:0007416	synapse assembly	ISS	biological process
GO:0007417	central nervous system development	ISS	biological process
GO:0007507	heart development	ISS	biological process
GO:0007611	learning or memory	ISS	biological process
GO:0007626	locomotory behavior	ISS	biological process
GO:0008283	cell proliferation	TAS	biological process
GO:0008284	positive regulation of cell proliferation	ISS	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	IDA	biological process
GO:0009898	cytoplasmic side of plasma membrane	IDA	cellular component
GO:0010975	regulation of neuron projection development	ISS	biological process
GO:0010997	anaphase-promoting complex binding	IPI	molecular function
GO:0014067	negative regulation of phosphatidylinositol 3-kinase signaling	TAS	biological process
GO:0016314	phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity	IDA	molecular function
GO:0016314	phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity	IDA	molecular function
GO:0016314	phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity	TAS	molecular function
GO:0016314	phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity	TAS	molecular function
GO:0016314	phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity	TAS	molecular function
GO:0016324	apical plasma membrane	IMP	cellular component
GO:0016477	cell migration	ISS	biological process
GO:0019899	enzyme binding	IPI	molecular function
GO:0021542	dentate gyrus development	ISS	biological process
GO:0021955	central nervous system neuron axonogenesis	ISS	biological process
GO:0030165	PDZ domain binding	IPI	molecular function
GO:0030165	PDZ domain binding	IPI	molecular function
GO:0030336	negative regulation of cell migration	IMP	biological process
GO:0030336	negative regulation of cell migration	IMP	biological process
GO:0031647	regulation of protein stability	IMP	biological process
GO:0031658	negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle	IDA	biological process
GO:0032286	central nervous system myelin maintenance	ISS	biological process
GO:0032535	regulation of cellular component size	ISS	biological process
GO:0033555	multicellular organismal response to stress	ISS	biological process
GO:0035176	social behavior	ISS	biological process
GO:0035749	myelin sheath adaxonal region	ISS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042995	cell projection	IDA	cellular component
GO:0042995	cell projection	IDA	cellular component
GO:0043005	neuron projection	ISS	cellular component
GO:0043220	Schmidt-Lanterman incisure	ISS	cellular component
GO:0043491	protein kinase B signaling	ISS	biological process
GO:0043491	protein kinase B signaling	ISS	biological process
GO:0043647	inositol phosphate metabolic process	TAS	biological process
GO:0045475	locomotor rhythm	ISS	biological process
GO:0045792	negative regulation of cell size	ISS	biological process
GO:0046621	negative regulation of organ growth	ISS	biological process
GO:0046855	inositol phosphate dephosphorylation	IDA	biological process
GO:0046856	phosphatidylinositol dephosphorylation	IMP	biological process
GO:0046856	phosphatidylinositol dephosphorylation	IMP	biological process
GO:0046856	phosphatidylinositol dephosphorylation	IDA	biological process
GO:0046856	phosphatidylinositol dephosphorylation	IDA	biological process
GO:0048015	phosphatidylinositol-mediated signaling	TAS	biological process
GO:0048853	forebrain morphogenesis	ISS	biological process
GO:0048854	brain morphogenesis	ISS	biological process
GO:0050771	negative regulation of axonogenesis	ISS	biological process
GO:0050821	protein stabilization	IDA	biological process
GO:0050852	T cell receptor signaling pathway	TAS	biological process
GO:0051091	positive regulation of sequence-specific DNA binding transcription factor activity	IMP	biological process
GO:0051717	inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity	IDA	molecular function
GO:0051717	inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity	TAS	molecular function
GO:0051800	phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity	IDA	molecular function
GO:0051800	phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity	TAS	molecular function
GO:0051895	negative regulation of focal adhesion assembly	IMP	biological process
GO:0051898	negative regulation of protein kinase B signaling	IMP	biological process
GO:0051898	negative regulation of protein kinase B signaling	IMP	biological process
GO:0060024	rhythmic synaptic transmission	ISS	biological process
GO:0060070	canonical Wnt signaling pathway	IDA	biological process
GO:0060074	synapse maturation	ISS	biological process
GO:0060134	prepulse inhibition	ISS	biological process
GO:0060997	dendritic spine morphogenesis	ISS	biological process
GO:0061002	negative regulation of dendritic spine morphogenesis	ISS	biological process
GO:0070373	negative regulation of ERK1 and ERK2 cascade	IMP	biological process
GO:0090394	negative regulation of excitatory postsynaptic potential	ISS	biological process
GO:0097105	presynaptic membrane assembly	ISS	biological process
GO:0097107	postsynaptic density assembly	ISS	biological process
GO:1903984	positive regulation of TRAIL-activated apoptotic signaling pathway	IMP	biological process
GO:1904668	positive regulation of ubiquitin protein ligase activity	IDA	biological process
GO:2000060	positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process	IDA	biological process
GO:2000134	negative regulation of G1/S transition of mitotic cell cycle	IDA	biological process
GO:2000463	positive regulation of excitatory postsynaptic potential	ISS	biological process
GO:2000808	negative regulation of synaptic vesicle clustering	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04068	FoxO signaling pathway
hsa04070	Phosphatidylinositol signaling system
hsa04071	Sphingolipid signaling pathway
hsa04151	PI3K-Akt signaling pathway
hsa04150	mTOR signaling pathway
hsa04140	Autophagy - animal
hsa04115	p53 signaling pathway
hsa04218	Cellular senescence
hsa04510	Focal adhesion
hsa05200	Pathways in cancer
hsa05206	MicroRNAs in cancer
hsa05230	Central carbon metabolism in cancer
hsa05235	PD-L1 expression and PD-1 checkpoint pathway in cancer
hsa05225	Hepatocellular carcinoma
hsa05214	Glioma
hsa05218	Melanoma
hsa05215	Prostate cancer
hsa05213	Endometrial cancer
hsa05224	Breast cancer
hsa05222	Small cell lung cancer
hsa04931	Insulin resistance
hsa05166	Human T-cell leukemia virus 1 infection
hsa05165	Human papillomavirus infection
hsa01521	EGFR tyrosine kinase inhibitor resistance

Diseases

Associated diseases	References
Cancer	GAD: 18846217
Cancer (Adenocarcinoma)	GAD: 19125794
Cancer (bladder)	GAD: 19692168
Cancer (brain)	GAD: 14642363
Cancer (colon)	GAD: 19673018
Cancer (colorectal)	GAD: 15523694
Cancer (endometrial)	GAD: 15589575
Cancer (epithelial ovarian)	GAD: 19064572
Cancer (esophageal)	GAD: 19164214
Cancer (glioma)	GAD: 19350382
Cancer (pancreatic)	GAD: 19351817
Cancer (prostate)	GAD: 11303600
Cancer (retinal)	GAD: 19420344
Cancer (Squamous cell)	GAD: 19486858
Malignant melanoma	KEGG: H00038
Cancer (vulvar)	KEGG: H00029
Cancer (breast)	KEGG: 11986403
Anaplastic astrocytoma	GAD: 11504770
Cancer (lung)	GAD: 18676680
Cancer (meningioma)	GAD: 15824172
Cancer (ovarian)	GAD: 16793127
Cancer (hepatocellular)	KEGG: H00048
Cowden syndrome	GAD: 9345101
Craniofacial abnormalities	GAD: 18759867
Cleft defects	GAD: 20634891
Diabetes	GAD: 14623110
Alzheimer's disease	GAD: 16385451
Autism	GAD: 15805158
Premature ovarian insufficiency (POI)	INFBASE: 26082156
Polycystic ovary syndrome (PCOS)	INFBASE: 26802879
Premature ovarian failure (POF)	INFBASE: 19449221
Male factor infertility	MIK: 24269974
Endometriosis	INFBASE: 12402310
Chronic obstructive pulmonary disease (COPD)	GAD: 19625176
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 22228739
Hypospermatogenesis	MIK: 28361989
Male infertility	MIK: 24269974
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24269974	Male infertility	TERT rs2736100, TEP1 rs1713449		1160 (580 male infertility cases, 580 matched controls)	Male infertility	TERT rs2736100 TEP1 rs1713449
22228739	Decreased spermatogenesis, sperm maturation				Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray