PTPN11 (protein tyrosine phosphatase non-receptor type 11) - Rat Genome Database

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Gene: PTPN11 (protein tyrosine phosphatase non-receptor type 11) Homo sapiens
Symbol: PTPN11
Name: protein tyrosine phosphatase non-receptor type 11
RGD ID: 731746
Description: Exhibits several functions, including insulin receptor binding activity; non-membrane spanning protein tyrosine phosphatase activity; and phosphotyrosine residue binding activity. Involved in several processes, including animal organ development; positive regulation of signal transduction; and transmembrane receptor protein tyrosine kinase signaling pathway. Localizes to cytoplasm; nucleus; and protein-containing complex. Implicated in several diseases, including Noonan syndrome (multiple); Noonan syndrome with multiple lentigines (multiple); atrophic gastritis; juvenile myelomonocytic leukemia; and metachondromatosis. Biomarker of anogenital venereal wart; cervical cancer; and glaucoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BPTP3; CFC; JMML; METCDS; MGC14433; NS1; protein tyrosine phosphatase, non-receptor type 11 (Noonan syndrome 1); protein tyrosine phosphatase-2; protein-tyrosine phosphatase 1D; protein-tyrosine phosphatase 2C; PTP-1D; PTP-2C; PTP2C; SH-PTP2; SH-PTP3; SH2 domain-containing protein tyrosine phosphatase 2; SHP2; tyrosine-protein phosphatase non-receptor type 11
RGD Orthologs
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC100421822   LOC344593   LOC391771   LOC442113   LOC442263  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38.p13 Ensembl12112,418,351 - 112,509,918 (+)EnsemblGRCh38hg38GRCh38
GRCh3812112,418,915 - 112,509,918 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3712112,856,751 - 112,947,722 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3612111,340,919 - 111,432,100 (+)NCBINCBI36hg18NCBI36
Build 3412111,319,255 - 111,410,436NCBI
Celera12112,483,686 - 112,574,781 (+)NCBI
Cytogenetic Map12q24.13NCBI
HuRef12109,868,826 - 109,960,330 (+)NCBIHuRef
CHM1_112112,825,224 - 112,916,404 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations     Click to see Annotation Detail View
acute myeloid leukemia  (EXP,IAGP)
acute promyelocytic leukemia  (EXP)
adenocarcinoma  (EXP)
anogenital venereal wart  (IEP)
aortic valve stenosis  (ISO)
arrhythmogenic right ventricular cardiomyopathy  (IAGP)
atrophic gastritis  (IAGP)
autism spectrum disorder  (IAGP)
Brain Neoplasms  (IAGP)
cancer  (IAGP)
cardiofaciocutaneous syndrome  (EXP,IAGP)
Carotid Artery Injuries  (ISO)
cervical cancer  (IEP)
chondroma  (IAGP)
chronic lymphocytic leukemia  (IAGP)
Colorectal Neoplasms  (IAGP)
Costello syndrome  (EXP)
craniosynostosis  (IAGP)
Developmental Disabilities  (IAGP)
dilated cardiomyopathy  (IAGP,ISO,ISS)
disease of metabolism  (ISS)
Dwarfism  (IAGP)
embryonal rhabdomyosarcoma  (IAGP)
Experimental Leukemia  (EXP)
Failure to Thrive  (IAGP)
Fetal Growth Retardation  (ISO)
Funnel Chest  (IAGP)
gastric adenocarcinoma  (IAGP)
genetic disease  (IAGP)
glaucoma  (IEP,ISO)
Haemophilus Infections  (ISO)
Helicobacter Infections  (IAGP)
hemorrhagic disease  (IAGP)
hepatocellular adenoma  (ISS)
hereditary multiple exostoses  (EXP)
Hereditary Neoplastic Syndromes  (IAGP)
high grade glioma  (IAGP)
Hydrops Fetalis  (IAGP)
hypertrophic cardiomyopathy  (IAGP,ISO,ISS)
influenza  (ISO)
intellectual disability  (IAGP)
juvenile myelomonocytic leukemia  (EXP,IAGP)
leukemia  (EXP)
lung adenocarcinoma  (IAGP)
lung squamous cell carcinoma  (IAGP)
lymphoma  (IAGP)
malignant astrocytoma  (EXP)
metachondromatosis  (IAGP)
microcephaly  (IAGP)
multiple myeloma  (IAGP)
myeloid leukemia associated with Down Syndrome  (IAGP)
neuroblastoma  (EXP,IAGP)
Neurodevelopmental Disorders  (EXP,IAGP)
neurofibroma  (IAGP)
neurofibromatosis-Noonan syndrome  (IAGP)
Noonan Like Syndrome  (IAGP)
Noonan syndrome  (EXP,IAGP,ISO)
Noonan syndrome 1  (IAGP)
Noonan syndrome 3  (IAGP)
Noonan syndrome with multiple lentigines  (EXP,IAGP,ISO)
Noonan syndrome with multiple lentigines 1  (IAGP)
Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia  (IAGP)
Ollier disease  (EXP)
Osteochondroma  (EXP)
Paraproteinemias  (IAGP)
plasma cell neoplasm  (IAGP)
plasmacytoma  (IAGP)
ptosis  (IAGP)
RASopathy  (IAGP)
scoliosis  (IAGP)
squamous cell carcinoma  (EXP)
Staphylococcal Pneumonia  (ISO)
stomach cancer  (IAGP)
T-cell acute lymphoblastic leukemia  (IAGP)
tetralogy of Fallot  (IAGP)
thrombocytopenia  (IAGP)
Ventricular Premature Complexes  (IAGP)
Ventricular Tachycardia  (IAGP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
1,4-dichlorobenzene  (ISO)
15-deoxy-Delta(12,14)-prostaglandin J2  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
afimoxifene  (EXP)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
anthranilic acid  (EXP)
antirheumatic drug  (EXP)
arsenous acid  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[e]pyrene  (EXP)
bortezomib  (EXP)
Brodifacoum  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
Calpeptin  (ISO)
carbon nanotube  (ISO)
cefaloridine  (ISO)
chondroitin sulfate  (EXP)
cisplatin  (ISO)
cobalt dichloride  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
diarsenic trioxide  (EXP)
dibenziodolium  (ISO)
dibutyl phthalate  (ISO)
dichlorine  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxazosin  (ISO)
enzyme inhibitor  (EXP)
ethanol  (ISO)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
geldanamycin  (EXP)
gemcitabine  (EXP)
genistein  (ISO)
gentamycin  (ISO)
glyphosate  (EXP)
IC-87114  (ISO)
isoprenaline  (ISO)
lipopolysaccharide  (ISO)
LY294002  (ISO)
menadione  (EXP)
methapyrilene  (EXP)
methoxychlor  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
methylmercury(1+)  (EXP)
N-methyl-4-phenylpyridinium  (EXP)
nefazodone  (ISO)
ochratoxin A  (EXP)
ozone  (ISO)
paracetamol  (EXP,ISO)
perfluorobutanesulfonic acid  (EXP)
perfluorobutyric acid  (EXP)
perfluorodecanoic acid  (EXP)
perfluorododecanoic acid  (EXP)
perfluoroheptanoic acid  (EXP)
perfluorohexanesulfonic acid  (EXP)
perfluorohexanoic acid  (EXP)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP)
perfluorooctanoic acid  (EXP)
perfluoroundecanoic acid  (EXP)
phenobarbital  (ISO)
pirinixic acid  (ISO)
resveratrol  (EXP,ISO)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
sodium fluoride  (ISO)
succimer  (EXP)
tipifarnib  (ISO)
tributylstannane  (EXP)
Tributyltin oxide  (EXP)
trimethyltin  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
vincristine  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
abortive mitotic cell cycle  (IEA,ISO)
atrioventricular canal development  (IMP)
axon guidance  (TAS)
axonogenesis  (ISO)
Bergmann glial cell differentiation  (IEA,ISO)
brain development  (IMP)
cellular response to angiotensin  (IEA,ISO)
cellular response to cytokine stimulus  (TAS)
cellular response to epidermal growth factor stimulus  (IMP)
cellular response to hydrogen peroxide  (IEA,ISO)
cellular response to insulin-like growth factor stimulus  (IEA,ISO)
cellular response to mechanical stimulus  (IEA,ISO)
cerebellar cortex formation  (IEA,ISO)
cytokine-mediated signaling pathway  (TAS)
DNA damage checkpoint signaling  (IEA,ISO)
ephrin receptor signaling pathway  (IDA)
epidermal growth factor receptor signaling pathway  (ISO,TAS)
ERBB signaling pathway  (IDA)
face morphogenesis  (IMP)
fibroblast growth factor receptor signaling pathway  (IMP,TAS)
genitalia development  (IMP)
glucose homeostasis  (IEA,ISO)
heart development  (IMP)
homeostasis of number of cells within a tissue  (IEA,ISO)
hormone metabolic process  (IEA,ISO)
hormone-mediated signaling pathway  (IEA,ISO)
inner ear development  (IMP)
integrin-mediated signaling pathway  (IEA,ISO)
interleukin-6-mediated signaling pathway  (TAS)
intestinal epithelial cell migration  (IEA,ISO)
leukocyte migration  (TAS)
lipid metabolic process  (ISO)
megakaryocyte development  (IEA,ISO)
microvillus organization  (IEA,ISO)
multicellular organism growth  (IEA,ISO)
multicellular organismal reproductive process  (IEA,ISO)
negative regulation of cell adhesion mediated by integrin  (IEA,ISO)
negative regulation of chondrocyte differentiation  (ISS)
negative regulation of cortisol secretion  (IEA,ISO)
negative regulation of growth hormone secretion  (IEA,ISO)
negative regulation of hormone secretion  (ISO)
negative regulation of insulin secretion  (IEA,ISO)
neurotrophin TRK receptor signaling pathway  (IEA,ISO)
obsolete activation of MAPK activity  (IEA)
organ growth  (IEA,ISO)
peptidyl-tyrosine dephosphorylation  (IDA,IEA,IMP)
platelet activation  (TAS)
platelet formation  (IEA,ISO)
platelet-derived growth factor receptor signaling pathway  (IEA,ISO)
positive regulation of ERK1 and ERK2 cascade  (IMP,ISO)
positive regulation of focal adhesion assembly  (IEA,ISO)
positive regulation of glucose import  (IDA)
positive regulation of hormone secretion  (IEA,ISO)
positive regulation of insulin receptor signaling pathway  (IDA)
positive regulation of interferon-beta production  (ISS)
positive regulation of interleukin-6 production  (ISS)
positive regulation of mitotic cell cycle  (IEA,ISO)
positive regulation of ossification  (ISS)
positive regulation of peptidyl-tyrosine phosphorylation  (IMP)
positive regulation of protein kinase B signaling  (TAS)
positive regulation of signal transduction  (ISO)
positive regulation of tumor necrosis factor production  (ISS)
protein dephosphorylation  (ISO)
regulation of cell adhesion mediated by integrin  (IMP)
regulation of MAPK cascade  (ISO)
regulation of protein export from nucleus  (IEA,ISO)
regulation of protein-containing complex assembly  (IDA)
regulation of type I interferon-mediated signaling pathway  (TAS)
smooth muscle cell proliferation  (IEA,ISO)
T cell costimulation  (TAS)
triglyceride metabolic process  (IEA,ISO)

Cellular Component
cytoplasm  (IDA,ISO)
cytosol  (ISO,TAS)
mitochondrion  (IEA,ISO)
nucleoplasm  (TAS)
nucleus  (IDA)
plasma membrane  (ISO)
plasma membrane raft  (IEA,ISO)
protein-containing complex  (IMP,ISO)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal bleeding  (IAGP)
Abnormal dermatoglyphics  (IAGP)
Abnormal endocardium morphology  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal hair quantity  (IAGP)
Abnormal heart morphology  (IAGP)
Abnormal joint morphology  (IAGP)
Abnormal localization of kidney  (IAGP)
Abnormal platelet function  (IAGP)
Abnormal pulmonary valve morphology  (IAGP)
Abnormal sternum morphology  (IAGP)
Abnormality of cardiovascular system morphology  (IAGP)
Abnormality of coagulation  (IAGP)
Abnormality of epiphysis morphology  (IAGP)
Abnormality of the cardiovascular system  (IAGP)
Abnormality of the curvature of the vertebral column  (IAGP)
Abnormality of the metaphysis  (IAGP)
Abnormality of the pulmonary artery  (IAGP)
Abnormality of the spleen  (IAGP)
Abnormality of the vertebral column  (IAGP)
Abnormality of the voice  (IAGP)
Acute myeloid leukemia  (IAGP)
Amegakaryocytic thrombocytopenia  (IAGP)
Aplasia of the ovary  (IAGP)
Aplasia of the semicircular canal  (IAGP)
Aplasia/Hypoplasia of the abdominal wall musculature  (IAGP)
Arrhythmia  (IAGP)
Astrocytoma  (IAGP)
Atrial septal defect  (IAGP)
Atrioventricular canal defect  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Avascular necrosis  (IAGP)
Bone pain  (IAGP)
Bowing of the long bones  (IAGP)
Brachycephaly  (IAGP)
Brachydactyly  (IAGP)
Brain neoplasm  (IAGP)
Bruising susceptibility  (IAGP)
Bundle branch block  (IAGP)
Cafe-au-lait spot  (IAGP)
Chronic lymphatic leukemia  (IAGP)
Cleft palate  (IAGP)
Clinodactyly  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Coarctation of aorta  (IAGP)
Coarse hair  (IAGP)
Cranial nerve paralysis  (IAGP)
Cryptorchidism  (IAGP)
Cubitus valgus  (IAGP)
Cystic hygroma  (IAGP)
Decreased fertility  (IAGP)
Delayed menarche  (IAGP)
Delayed puberty  (IAGP)
Delayed skeletal maturation  (IAGP)
Dental malocclusion  (IAGP)
Depressed nasal ridge  (IAGP)
Dilated cardiomyopathy  (IAGP)
Downslanted palpebral fissures  (IAGP)
Dysarthria  (IAGP)
Dysplastic pulmonary valve  (IAGP)
Embryonal rhabdomyosarcoma  (IAGP)
Enchondroma  (IAGP)
Enlarged thorax  (IAGP)
Epicanthus  (IAGP)
Excessive wrinkled skin  (IAGP)
Exostoses  (IAGP)
Failure to thrive  (IAGP)
Failure to thrive in infancy  (IAGP)
Feeding difficulties in infancy  (IAGP)
Freckling  (IAGP)
Global developmental delay  (IAGP)
Hepatomegaly  (IAGP)
High forehead  (IAGP)
High palate  (IAGP)
High, narrow palate  (IAGP)
Hyperextensible skin  (IAGP)
Hypertelorism  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypogonadism  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hypoplasia of the ovary  (IAGP)
Hyposmia  (IAGP)
Hypospadias  (IAGP)
Hypotonia  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Intrauterine growth retardation  (IAGP)
Joint hyperflexibility  (IAGP)
Juvenile myelomonocytic leukemia  (IAGP)
Kyphoscoliosis  (IAGP)
Limited elbow movement  (IAGP)
Low posterior hairline  (IAGP)
Low-set ears  (IAGP)
Low-set, posteriorly rotated ears  (IAGP)
Lung adenocarcinoma  (IAGP)
Lymphedema  (IAGP)
Lymphoma  (IAGP)
Male infertility  (IAGP)
Mandibular prognathia  (IAGP)
Melanocytic nevus  (IAGP)
Melanoma  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Micropenis  (IAGP)
Midface retrusion  (IAGP)
Missing ribs  (IAGP)
Mitral valve prolapse  (IAGP)
Monocytosis  (IAGP)
Multiple cafe-au-lait spots  (IAGP)
Multiple digital exostoses  (IAGP)
Multiple enchondromatosis  (IAGP)
Multiple lentigines  (IAGP)
Multiple myeloma  (IAGP)
Muscle weakness  (IAGP)
Myelodysplasia  (IAGP)
Myocardial infarction  (IAGP)
Myopia  (IAGP)
Neoplasm  (IAGP)
Neoplasm of the large intestine  (IAGP)
Neuroblastoma  (IAGP)
Neurofibromas  (IAGP)
Neurofibrosarcoma  (IAGP)
Nonimmune hydrops fetalis  (IAGP)
Nystagmus  (IAGP)
Overriding aorta  (IAGP)
Parietal bossing  (IAGP)
Patent ductus arteriosus  (IAGP)
Pectus carinatum  (IAGP)
Pectus excavatum  (IAGP)
Pectus excavatum of inferior sternum  (IAGP)
Posteriorly rotated ears  (IAGP)
Postnatal growth retardation  (IAGP)
Proptosis  (IAGP)
Protruding ear  (IAGP)
Ptosis  (IAGP)
Pulmonary artery stenosis  (IAGP)
Pulmonic stenosis  (IAGP)
Radial deviation of finger  (IAGP)
Radioulnar synostosis  (IAGP)
Reduced factor XII activity  (IAGP)
Reduced factor XIII activity  (IAGP)
Right ventricular hypertrophy  (IAGP)
Scapular winging  (IAGP)
Scoliosis  (IAGP)
Secundum atrial septal defect  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe sensorineural hearing impairment  (IAGP)
Shield chest  (IAGP)
Short neck  (IAGP)
Short stature  (IAGP)
Somatic mutation  (IAGP)
Specific learning disability  (IAGP)
Spina bifida occulta  (IAGP)
Sprengel anomaly  (IAGP)
Squamous cell lung carcinoma  (IAGP)
Strabismus  (IAGP)
Subcutaneous nodule  (IAGP)
Subvalvular aortic stenosis  (IAGP)
Superior pectus carinatum  (IAGP)
Synovitis  (IAGP)
Thick lower lip vermilion  (IAGP)
Thickened helices  (IAGP)
Thickened nuchal skin fold  (IAGP)
Third degree atrioventricular block  (IAGP)
Thrombocytopenia  (IAGP)
Triangular face  (IAGP)
Tricuspid regurgitation  (IAGP)
Unilateral renal agenesis  (IAGP)
Vascular dilatation  (IAGP)
Ventricular septal defect  (IAGP)
Ventricular tachycardia  (IAGP)
Webbed neck  (IAGP)
Wide intermamillary distance  (IAGP)
Wide nasal bridge  (IAGP)

References - curated
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Additional References at PubMed
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PMID:7588774   PMID:7589239   PMID:7642582   PMID:7673163   PMID:7681217   PMID:7681589   PMID:7688466   PMID:7691811   PMID:7894486   PMID:7935386   PMID:8041791   PMID:8119896  
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