Gene: PTPN11

Basic information

Tag Content
Uniprot ID Q06124; A8K1D9; Q96HD7;
Entrez ID 5781
Genbank protein ID EAW98012.1; AAH08692.1; AAA36611.1; AAA17022.1; CAA50045.1; BAA02740.2; AAP35770.1; BAF82543.1;
Genbank nucleotide ID NM_002834.4; NM_080601.2; NM_001330437.1;
Ensembl protein ID ENSP00000376376; ENSP00000340944; ENSP00000489597;
Ensembl nucleotide ID ENSG00000179295
Gene name Tyrosine-protein phosphatase non-receptor type 11
Gene symbol PTPN11
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description Acts downstream of various receptor and cytoplasmic protein tyrosine kinases to participate in the signal transduction from the cell surface to the nucleus (PubMed:10655584, PubMed:18559669, PubMed:18829466, PubMed:26742426, PubMed:28074573). Positively regulates MAPK signal transduction pathway (PubMed:28074573). Dephosphorylates GAB1, ARHGAP35 and EGFR (PubMed:28074573). Dephosphorylates ROCK2 at 'Tyr-722' resulting in stimulation of its RhoA binding activity (PubMed:18559669). Dephosphorylates CDC73 (PubMed:26742426). Dephosphorylates SOX9 on tyrosine residues, leading to inactivate SOX9 and promote ossification (By similarity).
Sequence
MTSRRWFHPN ITGVEAENLL LTRGVDGSFL ARPSKSNPGD FTLSVRRNGA VTHIKIQNTG 60
DYYDLYGGEK FATLAELVQY YMEHHGQLKE KNGDVIELKY PLNCADPTSE RWFHGHLSGK 120
EAEKLLTEKG KHGSFLVRES QSHPGDFVLS VRTGDDKGES NDGKSKVTHV MIRCQELKYD 180
VGGGERFDSL TDLVEHYKKN PMVETLGTVL QLKQPLNTTR INAAEIESRV RELSKLAETT 240
DKVKQGFWEE FETLQQQECK LLYSRKEGQR QENKNKNRYK NILPFDHTRV VLHDGDPNEP 300
VSDYINANII MPEFETKCNN SKPKKSYIAT QGCLQNTVND FWRMVFQENS RVIVMTTKEV 360
ERGKSKCVKY WPDEYALKEY GVMRVRNVKE SAAHDYTLRE LKLSKVGQGN TERTVWQYHF 420
RTWPDHGVPS DPGGVLDFLE EVHHKQESIM DAGPVVVHCS AGIGRTGTFI VIDILIDIIR 480
EKGVDCDIDV PKTIQMVRSQ RSGMVQTEAQ YRFIYMAVQH YIETLQRRIE EEQKSKRKGH 540
EYTNIKYSLA DQTSGDQSPL PPCTPTPPCA EMREDSARVY ENVGLMQQQK SFR 593

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

  

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologPTPN11477488A0A4D6PF96Canis lupus familiarisPredictionMore>>
1:1 orthologPTPN11102177271A0A452F960Capra hircusPredictionMore>>
1:1 orthologPTPN115781Q06124Homo sapiensPredictionMore>>
1:1 orthologPtpn1119247P35235CPOMus musculusPublicationMore>>
1:1 orthologPTPN11I3L916Sus scrofaPredictionMore>>
1:1 orthologPtpn1125622P41499Rattus norvegicusPredictionMore>>
1:1 orthologptpn11aF1QZU5Danio rerioPredictionMore>>

Other genetic variants/mutations

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Disease or phenotype associated information

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0001784 phosphotyrosine residue bindingIPI
GO:0001784 phosphotyrosine residue bindingIMP
GO:0004721 phosphoprotein phosphatase activityIDA
GO:0004725 protein tyrosine phosphatase activityIMP
GO:0004725 protein tyrosine phosphatase activityIDA
GO:0004725 protein tyrosine phosphatase activityEXP
GO:0004725 protein tyrosine phosphatase activityTAS
GO:0004726 non-membrane spanning protein tyrosine phosphatase activityIMP
GO:0004726 non-membrane spanning protein tyrosine phosphatase activityIDA
GO:0004726 non-membrane spanning protein tyrosine phosphatase activityTAS
GO:0005070 SH3/SH2 adaptor activityIPI
GO:0005158 insulin receptor bindingIPI
GO:0005515 protein bindingIPI
GO:0019901 protein kinase bindingISS
GO:0019904 protein domain specific bindingIEA
GO:0030971 receptor tyrosine kinase bindingIEA
GO:0031748 D1 dopamine receptor bindingIEA
GO:0043274 phospholipase bindingIEA
GO:0043560 insulin receptor substrate bindingIEA
GO:0045296 cadherin bindingIPI
GO:0050839 cell adhesion molecule bindingIPI
GO:0051428 peptide hormone receptor bindingIEA
GO:1990782 protein tyrosine kinase bindingIPI

GO:Biological Process

GO ID GO Term Evidence
GO:0000077 DNA damage checkpointIEA
GO:0000187 activation of MAPK activityIEA
GO:0006641 triglyceride metabolic processIEA
GO:0007173 epidermal growth factor receptor signaling pathwayTAS
GO:0007229 integrin-mediated signaling pathwayIEA
GO:0007411 axon guidanceTAS
GO:0007420 brain developmentIMP
GO:0007507 heart developmentIMP
GO:0008543 fibroblast growth factor receptor signaling pathwayIMP
GO:0008543 fibroblast growth factor receptor signaling pathwayTAS
GO:0009755 hormone-mediated signaling pathwayIEA
GO:0019221 cytokine-mediated signaling pathwayTAS
GO:0021697 cerebellar cortex formationIEA
GO:0030168 platelet activationTAS
GO:0030220 platelet formationIEA
GO:0031295 T cell costimulationTAS
GO:0032528 microvillus organizationIEA
GO:0032728 positive regulation of interferon-beta productionISS
GO:0032755 positive regulation of interleukin-6 productionISS
GO:0032760 positive regulation of tumor necrosis factor productionISS
GO:0033277 abortive mitotic cell cycleIEA
GO:0033628 regulation of cell adhesion mediated by integrinIMP
GO:0033629 negative regulation of cell adhesion mediated by integrinIEA
GO:0035264 multicellular organism growthIEA
GO:0035265 organ growthIEA
GO:0035335 peptidyl-tyrosine dephosphorylationIMP
GO:0035335 peptidyl-tyrosine dephosphorylationIDA
GO:0035855 megakaryocyte developmentIEA
GO:0036302 atrioventricular canal developmentIMP
GO:0038127 ERBB signaling pathwayIDA
GO:0042445 hormone metabolic processIEA
GO:0042593 glucose homeostasisIEA
GO:0043254 regulation of protein-containing complex assemblyIDA
GO:0045931 positive regulation of mitotic cell cycleIEA
GO:0046326 positive regulation of glucose importIDA
GO:0046628 positive regulation of insulin receptor signaling pathwayIDA
GO:0046676 negative regulation of insulin secretionIEA
GO:0046825 regulation of protein export from nucleusIEA
GO:0046887 positive regulation of hormone secretionIEA
GO:0048008 platelet-derived growth factor receptor signaling pathwayIEA
GO:0048011 neurotrophin TRK receptor signaling pathwayIEA
GO:0048013 ephrin receptor signaling pathwayIDA
GO:0048609 multicellular organismal reproductive processIEA
GO:0048806 genitalia developmentIMP
GO:0048839 inner ear developmentIMP
GO:0048873 homeostasis of number of cells within a tissueIEA
GO:0050731 positive regulation of peptidyl-tyrosine phosphorylationIMP
GO:0050900 leukocyte migrationTAS
GO:0051463 negative regulation of cortisol secretionIEA
GO:0051897 positive regulation of protein kinase B signalingTAS
GO:0060020 Bergmann glial cell differentiationIEA
GO:0060125 negative regulation of growth hormone secretionIEA
GO:0060325 face morphogenesisIMP
GO:0060338 regulation of type I interferon-mediated signaling pathwayTAS
GO:0061582 intestinal epithelial cell migrationIEA
GO:0070102 interleukin-6-mediated signaling pathwayTAS
GO:0070374 positive regulation of ERK1 and ERK2 cascadeIMP
GO:0071260 cellular response to mechanical stimulusIEA
GO:0071345 cellular response to cytokine stimulusTAS
GO:0071364 cellular response to epidermal growth factor stimulusIMP

GO:Cellular Component

GO ID GO Term Evidence
GO:0005634 nucleusIDA
GO:0005654 nucleoplasmTAS
GO:0005737 cytoplasmIDA
GO:0005739 mitochondrionIEA
GO:0005829 cytosolTAS
GO:0032991 protein-containing complexIMP

Reactome Pathway

Reactome ID Reactome Term Evidence
R-HSA-1059683 Interleukin-6 signalingTAS
R-HSA-109582 HemostasisTAS
R-HSA-109704 PI3K CascadeTAS
R-HSA-110056 MAPK3 (ERK1) activationTAS
R-HSA-112399 IRS-mediated signallingTAS
R-HSA-112409 RAF-independent MAPK1/3 activationTAS
R-HSA-112411 MAPK1 (ERK2) activationTAS
R-HSA-114604 GPVI-mediated activation cascadeTAS
R-HSA-1170546 Prolactin receptor signalingIEA
R-HSA-1257604 PIP3 activates AKT signalingTAS
R-HSA-1266738 Developmental BiologyTAS
R-HSA-1266738 Developmental BiologyIEA
R-HSA-1280215 Cytokine Signaling in Immune systemTAS
R-HSA-1280215 Cytokine Signaling in Immune systemIEA
R-HSA-1280218 Adaptive Immune SystemTAS
R-HSA-1295596 Spry regulation of FGF signalingTAS
R-HSA-1433557 Signaling by SCF-KITTAS
R-HSA-1500931 Cell-Cell communicationIEA
R-HSA-162582 Signal TransductionTAS
R-HSA-162582 Signal TransductionIEA
R-HSA-1643685 DiseaseTAS
R-HSA-166016 Toll Like Receptor 4 (TLR4) CascadeTAS
R-HSA-166166 MyD88-independent TLR4 cascade TAS
R-HSA-166520 Signaling by NTRKsIEA
R-HSA-168249 Innate Immune SystemTAS
R-HSA-168256 Immune SystemTAS
R-HSA-168256 Immune SystemIEA
R-HSA-168898 Toll-like Receptor CascadesTAS
R-HSA-177929 Signaling by EGFRTAS
R-HSA-180292 GAB1 signalosomeTAS
R-HSA-186763 Downstream signal transductionTAS
R-HSA-186797 Signaling by PDGFTAS
R-HSA-190236 Signaling by FGFRTAS
R-HSA-199418 Negative regulation of the PI3K/AKT networkTAS
R-HSA-202733 Cell surface interactions at the vascular wallTAS
R-HSA-210990 PECAM1 interactionsTAS
R-HSA-210993 Tie2 SignalingTAS
R-HSA-212436 Generic Transcription PathwayTAS
R-HSA-2219528 PI3K/AKT Signaling in CancerTAS
R-HSA-2219530 Constitutive Signaling by Aberrant PI3K in CancerTAS
R-HSA-2404192 Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)TAS
R-HSA-2428924 IGF1R signaling cascadeTAS
R-HSA-2428928 IRS-related events triggered by IGF1RTAS
R-HSA-2586552 Signaling by LeptinIEA
R-HSA-373752 Netrin-1 signalingIEA
R-HSA-388841 Costimulation by the CD28 familyTAS
R-HSA-389513 CTLA4 inhibitory signalingTAS
R-HSA-389948 PD-1 signalingTAS
R-HSA-391160 Signal regulatory protein family interactionsIEA
R-HSA-418346 Platelet homeostasisTAS
R-HSA-418886 Netrin mediated repulsion signalsIEA
R-HSA-422475 Axon guidanceTAS
R-HSA-422475 Axon guidanceIEA
R-HSA-432142 Platelet sensitization by LDLTAS
R-HSA-446652 Interleukin-1 family signalingTAS
R-HSA-449147 Signaling by InterleukinsTAS
R-HSA-449147 Signaling by InterleukinsIEA
R-HSA-512988 Interleukin-3, Interleukin-5 and GM-CSF signalingTAS
R-HSA-512988 Interleukin-3, Interleukin-5 and GM-CSF signalingIEA
R-HSA-5654687 Downstream signaling of activated FGFR1TAS
R-HSA-5654689 PI-3K cascade:FGFR1TAS
R-HSA-5654693 FRS-mediated FGFR1 signalingTAS
R-HSA-5654695 PI-3K cascade:FGFR2TAS
R-HSA-5654696 Downstream signaling of activated FGFR2TAS
R-HSA-5654700 FRS-mediated FGFR2 signalingTAS
R-HSA-5654706 FRS-mediated FGFR3 signalingTAS
R-HSA-5654708 Downstream signaling of activated FGFR3TAS
R-HSA-5654710 PI-3K cascade:FGFR3TAS
R-HSA-5654712 FRS-mediated FGFR4 signalingTAS
R-HSA-5654716 Downstream signaling of activated FGFR4TAS
R-HSA-5654720 PI-3K cascade:FGFR4TAS
R-HSA-5654726 Negative regulation of FGFR1 signalingTAS
R-HSA-5654727 Negative regulation of FGFR2 signalingTAS
R-HSA-5654732 Negative regulation of FGFR3 signalingTAS
R-HSA-5654733 Negative regulation of FGFR4 signalingTAS
R-HSA-5654736 Signaling by FGFR1TAS
R-HSA-5654738 Signaling by FGFR2TAS
R-HSA-5654741 Signaling by FGFR3TAS
R-HSA-5654743 Signaling by FGFR4TAS
R-HSA-5663202 Diseases of signal transductionTAS
R-HSA-5683057 MAPK family signaling cascadesTAS
R-HSA-5684996 MAPK1/MAPK3 signalingTAS
R-HSA-6783589 Interleukin-6 family signalingTAS
R-HSA-6806834 Signaling by METTAS
R-HSA-6811558 PI5P, PP2A and IER3 Regulate PI3K/AKT SignalingTAS
R-HSA-73857 RNA Polymerase II TranscriptionTAS
R-HSA-74160 Gene expression (Transcription)TAS
R-HSA-74751 Insulin receptor signalling cascadeTAS
R-HSA-74752 Signaling by Insulin receptorTAS
R-HSA-76002 Platelet activation, signaling and aggregationTAS
R-HSA-877300 Interferon gamma signalingIEA
R-HSA-877312 Regulation of IFNG signalingIEA
R-HSA-8853659 RET signalingTAS
R-HSA-8854691 Interleukin-20 family signalingTAS
R-HSA-8865999 MET activates PTPN11TAS
R-HSA-8878171 Transcriptional regulation by RUNX1TAS
R-HSA-8934593 Regulation of RUNX1 Expression and ActivityTAS
R-HSA-9006115 Signaling by NTRK2 (TRKB)IEA
R-HSA-9006925 Intracellular signaling by second messengersTAS
R-HSA-9006934 Signaling by Receptor Tyrosine KinasesTAS
R-HSA-9006934 Signaling by Receptor Tyrosine KinasesIEA
R-HSA-9008059 Interleukin-37 signalingTAS
R-HSA-9028731 Activated NTRK2 signals through FRS2 and FRS3IEA
R-HSA-909733 Interferon alpha/beta signalingTAS
R-HSA-912694 Regulation of IFNA signalingTAS
R-HSA-913531 Interferon SignalingTAS
R-HSA-913531 Interferon SignalingIEA
R-HSA-936964 Activation of IRF3/IRF7 mediated by TBK1/IKK epsilonTAS
R-HSA-937061 TRIF(TICAM1)-mediated TLR4 signaling TAS
R-HSA-9607240 FLT3 SignalingIEA
R-HSA-9607240 FLT3 SignalingTAS
R-HSA-9645135 STAT5 ActivationIEA

Drugs and compounds information

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Functional annotations

Keywords

Keyword ID Keyword Term
KW-0002 3D-structure
KW-0007 Acetylation
KW-0025 Alternative splicing
KW-0963 Cytoplasm
KW-0209 Deafness
KW-0225 Disease mutation
KW-0378 Hydrolase
KW-0539 Nucleus
KW-0597 Phosphoprotein
KW-0904 Protein phosphatase
KW-1185 Reference proteome
KW-0677 Repeat
KW-0727 SH2 domain

Interpro

InterPro ID InterPro Term
IPR029021 Prot-tyrosine_phosphatase-like
IPR000242 PTPase_domain
IPR000980 SH2
IPR036860 SH2_dom_sf
IPR016130 Tyr_Pase_AS
IPR003595 Tyr_Pase_cat
IPR012152 Tyr_Pase_non-rcpt_typ-6/11
IPR000387 TYR_PHOSPHATASE_dom

PROSITE

PROSITE ID PROSITE Term
PS50001 SH2
PS00383 TYR_PHOSPHATASE_1
PS50056 TYR_PHOSPHATASE_2
PS50055 TYR_PHOSPHATASE_PTP

Pfam

Pfam ID Pfam Term
PF00017 SH2
PF00102 Y_phosphatase

Protein-protein interaction

Protein-miRNA interaction