TEK wt Allele - CISMeF

Preferred Label : TEK wt Allele;

NCIt synonyms : Protein Receptor Tyrosine Kinase, Epithelial-Specific, TIE-2 Gene; TEK; VMCM1; TIE2; VMCM; TIE-2; TEK Tyrosine Kinase, Endothelial (Venous Malformations, Multiple Cutaneous and Mucosal) Gene; CD202b; GLC3E; TEK Tyrosine Kinase, Endothelial Gene; TEK Receptor Tyrosine Kinase wt Allele;

NCIt definition : Human TEK wild-type allele is located within 9p21 and is approximately 121 kb in length. This allele, which encodes angiopoietin-1 receptor protein, is involved in angiogenesis, endothelial cell proliferation and differentiation and endothelial cell patterning during vascular morphogenesis. Defects and deficiencies in TEK are associated with venous malformations.;

GenBank Accession Number : NM_000459;

Détails

Origin ID

C52222;

UMLS CUI

C1705001;

Automatic exact mappings (from CISMeF team)
- Glaucoma 3, primary congenital, e [OMIM Phenotype]
- TEK receptor tyrosine kinase [ORDO Gene]
- Tek tyrosine kinase, endothelial [OMIM gene]
- Venous malformations, multiple cutaneous and mucosal [OMIM Phenotype]
- multiple cutaneous and mucosal venous malformations [DO Concept]
- venous malformations, multiple cutaneous and mucosal [MeSH Supplementary Concept]
False automatic mappings
- Mucocutaneous venous malformations [ORDO Disease]
OMIM relation
- Tek tyrosine kinase, endothelial [OMIM gene]
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_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 9p21 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Blue Rubber Bleb Nevus Syndrome [NCIt concept]
gene_is_element_in_pathway
- Angiopoietin-1 Receptor Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Angiogenic Process [NCIt concept]
- Cell Differentiation Process [NCIt concept]
- Cell Proliferation [NCIt concept]
- Ligand Binding [NCIt concept]
- Morphogenesis [NCIt concept]
- Phosphorylation Process [NCIt concept]
- Receptor Signaling [NCIt concept]
- Tyrosine Phosphorylation [NCIt concept]

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