• Gene id: 5781

Gene Summary

• Gene Symbol: PTPN11   Gene   UCSC   Ensembl
• Aliases: BPTP3, CFC, JMML, METCDS, NS1, PTP-1D, PTP2C, SH-PTP2, SH-PTP3, SHP2
• Gene name: protein tyrosine phosphatase, non-receptor type 11
• Alternate names: tyrosine-protein phosphatase non-receptor type 11, PTP-2C, protein-tyrosine phosphatase 1D, protein-tyrosine phosphatase 2C,
• Gene location: 12q24.13 (112418897: 112509917)     Exons: 16     NC_000012.12
• Gene summary(Entrez): The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic tran
• OMIM: 176876

Protein Summary

• Protein general information: Q06124  
  • Name: Tyrosine protein phosphatase non receptor type 11 (EC 3.1.3.48) (Protein tyrosine phosphatase 1D) (PTP 1D) (Protein tyrosine phosphatase 2C) (PTP 2C) (SH PTP2) (SHP 2) (Shp2) (SH PTP3)
  • Length: 597  
  • Mass: 68,436
• Sequence:

  MTSRRWFHPNITGVEAENLLLTRGVDGSFLARPSKSNPGDFTLSVRRNGAVTHIKIQNTGDYYDLYGGEKFATLA
  ELVQYYMEHHGQLKEKNGDVIELKYPLNCADPTSERWFHGHLSGKEAEKLLTEKGKHGSFLVRESQSHPGDFVLS
  VRTGDDKGESNDGKSKVTHVMIRCQELKYDVGGGERFDSLTDLVEHYKKNPMVETLGTVLQLKQPLNTTRINAAE
  IESRVRELSKLAETTDKVKQGFWEEFETLQQQECKLLYSRKEGQRQENKNKNRYKNILPFDHTRVVLHDGDPNEP
  VSDYINANIIMPEFETKCNNSKPKKSYIATQGCLQNTVNDFWRMVFQENSRVIVMTTKEVERGKSKCVKYWPDEY
  ALKEYGVMRVRNVKESAAHDYTLRELKLSKVGQALLQGNTERTVWQYHFRTWPDHGVPSDPGGVLDFLEEVHHKQ
  ESIMDAGPVVVHCSAGIGRTGTFIVIDILIDIIREKGVDCDIDVPKTIQMVRSQRSGMVQTEAQYRFIYMAVQHY
  IETLQRRIEEEQKSKRKGHEYTNIKYSLADQTSGDQSPLPPCTPTPPCAEMREDSARVYENVGLMQQQKSFR

• Structural information:
  • Protein Domains: SH2 (6-102)
    SH2 (112-216)
    Tyrosine-protein (247-521)
  • Interpro: IPR029021  IPR000242  IPR000980  IPR036860  IPR016130   IPR003595  IPR012152  IPR000387  
  • Prosite: PS50001 PS00383 PS50056 PS50055
  • PDB: 2SHP 3B7O 3MOW 3O5X 3TKZ 3TL0 3ZM0 3ZM1 3ZM2 3ZM3 4DGP 4DGX 4GWF 4H1O 4H34 4JE4 4JEG 4JMG 4NWF 4NWG 4OHD 4OHE 4OHH 4OHI 4OHL 4PVG 4QSY 4RDD 5DF6 5EHP 5EHR 5I6V 5IBM 5IBS 5X7B 5X94 5XZR 6BMR 6BMU 6BMV 6BMW 6BMX 6BMY 6BN5
  • PDBsum: 2SHP 3B7O 3MOW 3O5X 3TKZ 3TL0 3ZM0 3ZM1 3ZM2 3ZM3 4DGP 4DGX 4GWF 4H1O 4H34 4JE4 4JEG 4JMG 4NWF 4NWG 4OHD 4OHE 4OHH 4OHI 4OHL 4PVG 4QSY 4RDD 5DF6 5EHP 5EHR 5I6V 5IBM 5IBS 5X7B 5X94 5XZR 6BMR 6BMU 6BMV 6BMW 6BMX 6BMY 6BN5
  • DIP: 516
  • STRING: ENSP00000340944
• Other Databases: GeneCards:  PTPN11  Malacards:  PTPN11

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000077	DNA damage checkpoint	IEA	biological process
GO:0000187	activation of MAPK activity	IEA	biological process
GO:0004721	phosphoprotein phosphatase activity	IDA	molecular function
GO:0004725	protein tyrosine phosphatase activity	IDA	molecular function
GO:0004725	protein tyrosine phosphatase activity	IDA	molecular function
GO:0004725	protein tyrosine phosphatase activity	TAS	molecular function
GO:0004725	protein tyrosine phosphatase activity	TAS	molecular function
GO:0004725	protein tyrosine phosphatase activity	TAS	molecular function
GO:0004725	protein tyrosine phosphatase activity	TAS	molecular function
GO:0004726	non-membrane spanning protein tyrosine phosphatase activity	IMP	molecular function
GO:0004726	non-membrane spanning protein tyrosine phosphatase activity	TAS	molecular function
GO:0004726	non-membrane spanning protein tyrosine phosphatase activity	TAS	molecular function
GO:0004726	non-membrane spanning protein tyrosine phosphatase activity	TAS	molecular function
GO:0004726	non-membrane spanning protein tyrosine phosphatase activity	TAS	molecular function
GO:0005070	SH3/SH2 adaptor activity	IPI	molecular function
GO:0005158	insulin receptor binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	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:0005737	cytoplasm	IDA	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: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: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: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: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: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: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: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: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:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006641	triglyceride metabolic process	IEA	biological process
GO:0007173	epidermal growth factor receptor signaling pathway	TAS	biological process
GO:0007229	integrin-mediated signaling pathway	IEA	biological process
GO:0007409	axonogenesis	IEA	biological process
GO:0007420	brain development	IMP	biological process
GO:0007507	heart development	IMP	biological process
GO:0008543	fibroblast growth factor receptor signaling pathway	TAS	biological process
GO:0008543	fibroblast growth factor receptor signaling pathway	TAS	biological process
GO:0008543	fibroblast growth factor receptor signaling pathway	TAS	biological process
GO:0008543	fibroblast growth factor receptor signaling pathway	TAS	biological process
GO:0009755	hormone-mediated signaling pathway	IEA	biological process
GO:0014066	regulation of phosphatidylinositol 3-kinase signaling	TAS	biological process
GO:0016303	1-phosphatidylinositol-3-kinase activity	TAS	molecular function
GO:0019904	protein domain specific binding	IEA	molecular function
GO:0021697	cerebellar cortex formation	IEA	biological process
GO:0030168	platelet activation	TAS	biological process
GO:0030220	platelet formation	IEA	biological process
GO:0030971	receptor tyrosine kinase binding	IEA	molecular function
GO:0031295	T cell costimulation	TAS	biological process
GO:0031748	D1 dopamine receptor binding	IEA	molecular function
GO:0032528	microvillus organization	IEA	biological process
GO:0033277	abortive mitotic cell cycle	IEA	biological process
GO:0033628	regulation of cell adhesion mediated by integrin	IMP	biological process
GO:0033629	negative regulation of cell adhesion mediated by integrin	IEA	biological process
GO:0035264	multicellular organism growth	IEA	biological process
GO:0035265	organ growth	IEA	biological process
GO:0035335	peptidyl-tyrosine dephosphorylation	IMP	biological process
GO:0035335	peptidyl-tyrosine dephosphorylation	IDA	biological process
GO:0035855	megakaryocyte development	IEA	biological process
GO:0036092	phosphatidylinositol-3-phosphate biosynthetic process	IEA	biological process
GO:0036302	atrioventricular canal development	IMP	biological process
GO:0038127	ERBB signaling pathway	IDA	biological process
GO:0040014	regulation of multicellular organism growth	IEA	biological process
GO:0042445	hormone metabolic process	IEA	biological process
GO:0042593	glucose homeostasis	IEA	biological process
GO:0043234	protein complex	IEA	cellular component
GO:0043254	regulation of protein complex assembly	IDA	biological process
GO:0043274	phospholipase binding	IEA	molecular function
GO:0043560	insulin receptor substrate binding	IEA	molecular function
GO:0045931	positive regulation of mitotic cell cycle	IEA	biological process
GO:0046676	negative regulation of insulin secretion	IEA	biological process
GO:0046825	regulation of protein export from nucleus	IEA	biological process
GO:0046854	phosphatidylinositol phosphorylation	IEA	biological process
GO:0046887	positive regulation of hormone secretion	IEA	biological process
GO:0046934	phosphatidylinositol-4,5-bisphosphate 3-kinase activity	TAS	molecular function
GO:0048008	platelet-derived growth factor receptor signaling pathway	IEA	biological process
GO:0048011	neurotrophin TRK receptor signaling pathway	IEA	biological process
GO:0048013	ephrin receptor signaling pathway	IDA	biological process
GO:0048015	phosphatidylinositol-mediated signaling	TAS	biological process
GO:0048609	multicellular organismal reproductive process	IEA	biological process
GO:0048806	genitalia development	IMP	biological process
GO:0048839	inner ear development	IMP	biological process
GO:0048873	homeostasis of number of cells within a tissue	IEA	biological process
GO:0050900	leukocyte migration	TAS	biological process
GO:0051428	peptide hormone receptor binding	IEA	molecular function
GO:0051463	negative regulation of cortisol secretion	IEA	biological process
GO:0060020	Bergmann glial cell differentiation	IEA	biological process
GO:0060125	negative regulation of growth hormone secretion	IEA	biological process
GO:0060325	face morphogenesis	IMP	biological process
GO:0060338	regulation of type I interferon-mediated signaling pathway	TAS	biological process
GO:0061582	intestinal epithelial cell migration	IEA	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IEA	biological process
GO:2001275	positive regulation of glucose import in response to insulin stimulus	IDA	biological process
GO:0000077	DNA damage checkpoint	IEA	biological process
GO:0000187	activation of MAPK activity	IEA	biological process
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:0004725	protein tyrosine phosphatase activity	IEA	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:0004725	protein tyrosine phosphatase activity	IDA	molecular function
GO:0004725	protein tyrosine phosphatase activity	TAS	molecular function
GO:0004725	protein tyrosine phosphatase activity	TAS	molecular function
GO:0004725	protein tyrosine phosphatase activity	TAS	molecular function
GO:0004725	protein tyrosine phosphatase activity	TAS	molecular function
GO:0004726	non-membrane spanning protein tyrosine phosphatase activity	IMP	molecular function
GO:0004726	non-membrane spanning protein tyrosine phosphatase activity	TAS	molecular function
GO:0004726	non-membrane spanning protein tyrosine phosphatase activity	TAS	molecular function
GO:0004726	non-membrane spanning protein tyrosine phosphatase activity	TAS	molecular function
GO:0004726	non-membrane spanning protein tyrosine phosphatase activity	TAS	molecular function
GO:0005070	SH3/SH2 adaptor activity	IPI	molecular function
GO:0005158	insulin receptor binding	IEA	molecular function
GO:0005158	insulin receptor binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	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	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005829	cytosol	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: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: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: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: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: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: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: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: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:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006470	protein dephosphorylation	IEA	biological process
GO:0006470	protein dephosphorylation	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0006641	triglyceride metabolic process	IEA	biological process
GO:0007173	epidermal growth factor receptor signaling pathway	IEA	biological process
GO:0007173	epidermal growth factor receptor signaling pathway	TAS	biological process
GO:0007229	integrin-mediated signaling pathway	IEA	biological process
GO:0007409	axonogenesis	IEA	biological process
GO:0007420	brain development	IMP	biological process
GO:0007507	heart development	IMP	biological process
GO:0008543	fibroblast growth factor receptor signaling pathway	TAS	biological process
GO:0008543	fibroblast growth factor receptor signaling pathway	TAS	biological process
GO:0008543	fibroblast growth factor receptor signaling pathway	TAS	biological process
GO:0008543	fibroblast growth factor receptor signaling pathway	TAS	biological process
GO:0009755	hormone-mediated signaling pathway	IEA	biological process
GO:0009967	positive regulation of signal transduction	IEA	biological process
GO:0014066	regulation of phosphatidylinositol 3-kinase signaling	TAS	biological process
GO:0016303	1-phosphatidylinositol-3-kinase activity	TAS	molecular function
GO:0016311	dephosphorylation	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016791	phosphatase activity	IEA	molecular function
GO:0019904	protein domain specific binding	IEA	molecular function
GO:0021697	cerebellar cortex formation	IEA	biological process
GO:0030168	platelet activation	TAS	biological process
GO:0030220	platelet formation	IEA	biological process
GO:0030971	receptor tyrosine kinase binding	IEA	molecular function
GO:0031295	T cell costimulation	TAS	biological process
GO:0031748	D1 dopamine receptor binding	IEA	molecular function
GO:0032528	microvillus organization	IEA	biological process
GO:0033277	abortive mitotic cell cycle	IEA	biological process
GO:0033628	regulation of cell adhesion mediated by integrin	IMP	biological process
GO:0033629	negative regulation of cell adhesion mediated by integrin	IEA	biological process
GO:0035264	multicellular organism growth	IEA	biological process
GO:0035265	organ growth	IEA	biological process
GO:0035335	peptidyl-tyrosine dephosphorylation	IMP	biological process
GO:0035335	peptidyl-tyrosine dephosphorylation	IDA	biological process
GO:0035855	megakaryocyte development	IEA	biological process
GO:0036092	phosphatidylinositol-3-phosphate biosynthetic process	IEA	biological process
GO:0036302	atrioventricular canal development	IMP	biological process
GO:0038127	ERBB signaling pathway	IDA	biological process
GO:0040014	regulation of multicellular organism growth	IEA	biological process
GO:0042445	hormone metabolic process	IEA	biological process
GO:0042593	glucose homeostasis	IEA	biological process
GO:0043234	protein complex	IEA	cellular component
GO:0043254	regulation of protein complex assembly	IDA	biological process
GO:0043274	phospholipase binding	IEA	molecular function
GO:0043560	insulin receptor substrate binding	IEA	molecular function
GO:0045931	positive regulation of mitotic cell cycle	IEA	biological process
GO:0046676	negative regulation of insulin secretion	IEA	biological process
GO:0046825	regulation of protein export from nucleus	IEA	biological process
GO:0046854	phosphatidylinositol phosphorylation	IEA	biological process
GO:0046887	positive regulation of hormone secretion	IEA	biological process
GO:0046888	negative regulation of hormone secretion	IEA	biological process
GO:0046934	phosphatidylinositol-4,5-bisphosphate 3-kinase activity	TAS	molecular function
GO:0048008	platelet-derived growth factor receptor signaling pathway	IEA	biological process
GO:0048011	neurotrophin TRK receptor signaling pathway	IEA	biological process
GO:0048013	ephrin receptor signaling pathway	IDA	biological process
GO:0048015	phosphatidylinositol-mediated signaling	TAS	biological process
GO:0048609	multicellular organismal reproductive process	IEA	biological process
GO:0048806	genitalia development	IMP	biological process
GO:0048839	inner ear development	IMP	biological process
GO:0048873	homeostasis of number of cells within a tissue	IEA	biological process
GO:0050900	leukocyte migration	TAS	biological process
GO:0051428	peptide hormone receptor binding	IEA	molecular function
GO:0051463	negative regulation of cortisol secretion	IEA	biological process
GO:0060020	Bergmann glial cell differentiation	IEA	biological process
GO:0060125	negative regulation of growth hormone secretion	IEA	biological process
GO:0060325	face morphogenesis	IMP	biological process
GO:0060338	regulation of type I interferon-mediated signaling pathway	TAS	biological process
GO:0061582	intestinal epithelial cell migration	IEA	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IEA	biological process
GO:2001275	positive regulation of glucose import in response to insulin stimulus	IDA	biological process
GO:0004721	phosphoprotein phosphatase activity	IDA	molecular function
GO:0004725	protein tyrosine phosphatase activity	IDA	molecular function
GO:0004725	protein tyrosine phosphatase activity	IDA	molecular function
GO:0004725	protein tyrosine phosphatase activity	TAS	molecular function
GO:0004725	protein tyrosine phosphatase activity	TAS	molecular function
GO:0004725	protein tyrosine phosphatase activity	TAS	molecular function
GO:0004725	protein tyrosine phosphatase activity	TAS	molecular function
GO:0004726	non-membrane spanning protein tyrosine phosphatase activity	IMP	molecular function
GO:0004726	non-membrane spanning protein tyrosine phosphatase activity	TAS	molecular function
GO:0004726	non-membrane spanning protein tyrosine phosphatase activity	TAS	molecular function
GO:0004726	non-membrane spanning protein tyrosine phosphatase activity	TAS	molecular function
GO:0004726	non-membrane spanning protein tyrosine phosphatase activity	TAS	molecular function
GO:0005070	SH3/SH2 adaptor activity	IPI	molecular function
GO:0005158	insulin receptor binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	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:0005737	cytoplasm	IDA	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: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: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: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: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: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: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: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: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:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0007173	epidermal growth factor receptor signaling pathway	TAS	biological process
GO:0007420	brain development	IMP	biological process
GO:0007507	heart development	IMP	biological process
GO:0008543	fibroblast growth factor receptor signaling pathway	TAS	biological process
GO:0008543	fibroblast growth factor receptor signaling pathway	TAS	biological process
GO:0008543	fibroblast growth factor receptor signaling pathway	TAS	biological process
GO:0008543	fibroblast growth factor receptor signaling pathway	TAS	biological process
GO:0014066	regulation of phosphatidylinositol 3-kinase signaling	TAS	biological process
GO:0016303	1-phosphatidylinositol-3-kinase activity	TAS	molecular function
GO:0030168	platelet activation	TAS	biological process
GO:0031295	T cell costimulation	TAS	biological process
GO:0033628	regulation of cell adhesion mediated by integrin	IMP	biological process
GO:0035335	peptidyl-tyrosine dephosphorylation	IMP	biological process
GO:0035335	peptidyl-tyrosine dephosphorylation	IDA	biological process
GO:0036302	atrioventricular canal development	IMP	biological process
GO:0038127	ERBB signaling pathway	IDA	biological process
GO:0043254	regulation of protein complex assembly	IDA	biological process
GO:0046934	phosphatidylinositol-4,5-bisphosphate 3-kinase activity	TAS	molecular function
GO:0048013	ephrin receptor signaling pathway	IDA	biological process
GO:0048015	phosphatidylinositol-mediated signaling	TAS	biological process
GO:0048806	genitalia development	IMP	biological process
GO:0048839	inner ear development	IMP	biological process
GO:0050900	leukocyte migration	TAS	biological process
GO:0060325	face morphogenesis	IMP	biological process
GO:0060338	regulation of type I interferon-mediated signaling pathway	TAS	biological process
GO:2001275	positive regulation of glucose import in response to insulin stimulus	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04072	Phospholipase D signaling pathway
hsa04625	C-type lectin receptor signaling pathway
hsa04650	Natural killer cell mediated cytotoxicity
hsa04670	Leukocyte transendothelial migration
hsa04920	Adipocytokine signaling pathway
hsa04722	Neurotrophin signaling pathway
hsa04360	Axon guidance
hsa05205	Proteoglycans in cancer
hsa05235	PD-L1 expression and PD-1 checkpoint pathway in cancer
hsa05220	Chronic myeloid leukemia
hsa05211	Renal cell carcinoma
hsa04931	Insulin resistance
hsa05120	Epithelial cell signaling in Helicobacter pylori infection
hsa05130	Pathogenic Escherichia coli infection
hsa05168	Herpes simplex virus 1 infection

Diseases

Associated diseases	References
Leukemia	OMIM: 176876
Cancer	GAD: 19773259
Cancer (esophageal)	GAD: 20453000
Cancer (glioma)	GAD: 20302979
Cancer (leukemia)	GAD: 16533526
Cancer (pancreatic)	GAD: 19351817
Cancer (Stomach)	GAD: 19822020
Heart disease	GAD: 17515436
Arrhythmias	GAD: 18241070
Cardiovascular disease	GAD: 17515436
Carotid artery diseases	GAD: 17903303
Noonan syndrome	KEGG: H01738
Noonan syndrome	KEGG: H00523
Neurofibromatosis	GAD: 16380919
Cleft defects	GAD: 20634891
Gastric atrophy	GAD: 17235629
Lymphedema	GAD: 18564921
Ulcerative colitis	GAD: 19160029
Addison's disease	GAD: 18593762
Celiac disease	GAD: 19240061
Diabetes	GAD: 17554300
Obesity	GAD: 20734064
LEOPARD syndrome	OMIM: 176876
Hearing Loss	GAD: 19077116
Cognitive function	GAD: 19133693
Abnormal gonadal determination	MIK: 21465649
Growth disorders	GAD: 18331608
Metachondromatosis	OMIM: 176876
Abnormal gonadal determination	MIK: 21465649
Male infertility	MIK: 26265072
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21465649	Abnormal gonadal determination	T507K		1 patient with abnormal gonadal determination	Male infertility
26265072	Male infertility				Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)