PTPN11 wt Allele

Preferred Label : PTPN11 wt Allele;

NCIt synonyms : PTP-1D; SHP-2; Protein Tyrosine Phosphatase Non-Receptor Type 11 wt Allele; NS1; BPTP3; PTP2C; SH-PTP3; SHP2; CFC; SH-PTP2; METCDS; JMML; SHPTP2; Protein Tyrosine Phosphatase, Non-Receptor Type 11 (Noonan Syndrome 1) Gene; Protein-Tyrosine Phosphatase, Nonreceptor Type, 11 Gene;

NCIt definition : Human PTPN11 wild-type allele is located within 12q24 and is approximately 91 kb in length. This allele, which encodes tyrosine-protein phosphatase non-receptor type 11 protein, is involved in the dephosphorylation of protein-tyrosine phosphates. The PTPN11 gene is associated with severe congenital neutropenia as well as several forms of leukemia.;

NCIt note : Gene_Has_Function: Cell Morphogenesis;

GenBank Accession Number : NM_002834;

Details

Origin ID

C49518;

UMLS CUI

C1706044;

Automatic exact mappings (from CISMeF team)
- Cardiofaciocutaneous syndrome 1 [OMIM Phenotype]
- Juvenile myelomonocytic leukemia [OMIM Phenotype]
- Juvenile myelomonocytic leukemia [ORDO Disease]
- Metachondromatosis [OMIM Phenotype]
- NS-1 [MeSH concept]
- Noonan syndrome 1 [DO Concept]
- Ozone depletion [UNESCO concept]
- Protein-tyrosine phosphatase, nonreceptor-type, 11 [OMIM gene]
- Tubulin-specific Chaperone C [OMIM gene]
- metachondromatosis [DO Concept]
- protein tyrosine phosphatase non-receptor type 11 [ORDO Gene]
- protein tyrosine phosphatase, Non-Receptor type 11 [MeSH Descriptor]
OMIM relation
- Protein-tyrosine phosphatase, nonreceptor-type, 11 [OMIM gene]
See also inter- (CISMeF)
- Noonan syndrome 1 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_associated_with_disease
- Juvenile Myelomonocytic Leukemia [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 12q24 [NCIt concept]
gene_is_element_in_pathway
- Adipocytokine Signaling Pathway [NCIt concept]
- Angiopoietin-1 Receptor Signaling Pathway [NCIt concept]
- Chronic Myeloid Leukemia Pathway [NCIt concept]
- ERBB2/ERBB3 Signaling Pathway [NCIt concept]
- Epithelial Cell Signaling Pathway in Helicobacter pylori Infection [NCIt concept]
- Erythropoietin Signaling Pathway [NCIt concept]
- FGF Signaling Pathway [NCIt concept]
- Fc-Epsilon Receptor I Signaling Pathway PID [NCIt concept]
- Hepatocyte Growth Factor Receptor Signaling Pathway BioCarta [NCIt concept]
- Hepatocyte Growth Factor Receptor Signaling Pathway PID [NCIt concept]
- IGF-1 Signaling Pathway [NCIt concept]
- IGF1 Pathway [NCIt concept]
- IL2-Mediated Signaling Pathway [NCIt concept]
- IL2/PI3K Signaling Pathway [NCIt concept]
- IL2/STAT5 Signaling Pathway [NCIt concept]
- IL6 Signaling Pathway [NCIt concept]
- IL6-Mediated Signaling Pathway [NCIt concept]
- Insulin Signaling Pathway [NCIt concept]
- Interferon-Gamma Signaling Pathway [NCIt concept]
- Jak-STAT Signaling Pathway [NCIt concept]
- Leukocyte Transendothelial Migration Pathway [NCIt concept]
- Mast/Stem Cell Growth Factor Receptor Signaling Pathway [NCIt concept]
- N-Cadherin Signaling Pathway [NCIt concept]
- Natural Killer Cell-Mediated Cytotoxicity Pathway [NCIt concept]
- Neurotrophin Signaling Pathway [NCIt concept]
- PDGFR-beta Signaling Pathway [NCIt concept]
- Phosphatidylinositol Signaling System Pathway [NCIt concept]
- Proto-Oncogene Tyrosine-Protein Kinase Receptor Ret Signaling Pathway [NCIt concept]
- Renal Cell Carcinoma Pathway [NCIt concept]
- T-Cell Activation Co-Stimulatory Signaling Pathway [NCIt concept]
- T-Cell Receptor Signaling Pathway in Naive CD4+ T Cells [NCIt concept]
- VEGFR1 Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Adhesion Process [NCIt concept]
- Cell Differentiation Process [NCIt concept]
- Cell Growth [NCIt concept]
- Cell Proliferation [NCIt concept]
- Cell Proliferation Regulatory Process [NCIt concept]
- Cellular Migration Process [NCIt concept]
- Dephosphorylation [NCIt concept]
- Hematopoietic Process [NCIt concept]
- Hydrolysis [NCIt concept]
- Metabolic Control [NCIt concept]
- Protein Dephosphorylation [NCIt concept]
- Signal Transduction [NCIt concept]
- Transcription [NCIt concept]

Keyword's position in hierarchy(ies) :

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