InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PTPN11

Summary

InnateDB Protein

IDBP-245334.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PTPN11

Protein Name

protein tyrosine phosphatase, non-receptor type 11

Synonyms

BPTP3; CFC; NS1; PTP-1D; PTP2C; SH-PTP2; SH-PTP3; SHP2;

Species

Homo sapiens

Ensembl Protein

ENSP00000376376

InnateDB Gene

IDBG-58105 (PTPN11)

Protein Structure

UniProt Annotation

Function

Acts downstream of various receptor and cytoplasmic protein tyrosine kinases to participate in the signal transduction from the cell surface to the nucleus. Dephosphorylates ROCK2 at Tyr-722 resulting in stimulatation of its RhoA binding activity. {ECO:0000269PubMed:10655584, ECO:0000269PubMed:18559669, ECO:0000269PubMed:18829466}.

Subcellular Localization

Cytoplasm.

Disease Associations

LEOPARD syndrome 1 (LEOPARD1) [MIM:151100]: A disorder characterized by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and sensorineural deafness. {ECO:0000269PubMed:12058348, ECO:0000269PubMed:14961557, ECO:0000269PubMed:15121796, ECO:0000269PubMed:15389709, ECO:0000269PubMed:15520399, ECO:0000269PubMed:15690106, ECO:0000269PubMed:16679933}. Note=The disease is caused by mutations affecting the gene represented in this entry.Noonan syndrome 1 (NS1) [MIM:163950]: A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. Some patients with NS1 develop multiple giant cell lesions of the jaw or other bony or soft tissues, which are classified as pigmented villonodular synovitis (PVNS) when occurring in the jaw or joints. {ECO:0000269PubMed:11704759, ECO:0000269PubMed:11992261, ECO:0000269PubMed:12161469, ECO:0000269PubMed:12325025, ECO:0000269PubMed:12529711, ECO:0000269PubMed:12634870, ECO:0000269PubMed:12717436, ECO:0000269PubMed:12739139, ECO:0000269PubMed:12960218, ECO:0000269PubMed:15384080, ECO:0000269PubMed:15948193, ECO:0000269PubMed:19020799}. Note=The disease is caused by mutations affecting the gene represented in this entry. Mutations in PTPN11 account for more than 50% of the cases.Leukemia, juvenile myelomonocytic (JMML) [MIM:607785]: An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages. {ECO:0000269PubMed:12717436}. Note=The disease is caused by mutations affecting the gene represented in this entry.Metachondromatosis (MC) [MIM:156250]: A skeletal disorder with radiologic features of both multiple exostoses and Ollier disease, characterized by the presence of exostoses, commonly of the bones of the hands and feet, and enchondromas of the metaphyses of long bones and iliac crest. {ECO:0000269PubMed:20577567}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed, with highest levels in heart, brain, and skeletal muscle. {ECO:0000269PubMed:1280823, ECO:0000269PubMed:7681589, ECO:0000269PubMed:8216283}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 203 experimentally validated interaction(s) in this database.
They are also associated with 41 interaction(s) predicted by orthology.

Experimentally validated
Total	203 [view]
Protein-Protein	201 [view]
Protein-DNA	1 [view]
Protein-RNA	1 [view]
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	41 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004721	phosphoprotein phosphatase activity
GO:0004725	protein tyrosine phosphatase activity
GO:0004726	non-membrane spanning protein tyrosine phosphatase activity
GO:0005070	SH3/SH2 adaptor activity
GO:0005158	insulin receptor binding
GO:0005515	protein binding

Biological Process

GO:0006470	protein dephosphorylation
GO:0007173	epidermal growth factor receptor signaling pathway
GO:0007411	axon guidance
GO:0007420	brain development
GO:0007507	heart development
GO:0007596	blood coagulation
GO:0008286	insulin receptor signaling pathway
GO:0008543	fibroblast growth factor receptor signaling pathway
GO:0019221	cytokine-mediated signaling pathway
GO:0031295	T cell costimulation
GO:0033628	regulation of cell adhesion mediated by integrin
GO:0035335	peptidyl-tyrosine dephosphorylation
GO:0036302	atrioventricular canal development
GO:0038095	Fc-epsilon receptor signaling pathway
GO:0038127	ERBB signaling pathway
GO:0045087	innate immune response (InnateDB)
GO:0048011	neurotrophin TRK receptor signaling pathway
GO:0048013	ephrin receptor signaling pathway
GO:0048015	phosphatidylinositol-mediated signaling
GO:0048806	genitalia development
GO:0048839	inner ear development
GO:0050900	leukocyte migration
GO:0060325	face morphogenesis
GO:0060333	interferon-gamma-mediated signaling pathway
GO:0060334	regulation of interferon-gamma-mediated signaling pathway
GO:0060337	type I interferon signaling pathway
GO:0060338	regulation of type I interferon-mediated signaling pathway
GO:2001275	positive regulation of glucose import in response to insulin stimulus