TNIK wt Allele

Preferred Label : TNIK wt Allele;

NCIt synonyms : MRT54; KIAA0551; TRAF2 and NCK Interacting Kinase wt Allele;

NCIt definition : Human TNIK wild-type allele is located within 3q26.2-q26.31 and is approximately 402 kb in length. This allele, which encodes TRAF2 and NCK-interacting protein kinase protein, is involved in serine/threonine phosphorylation and activation of the Wnt signaling pathway. Mutation of the gene is associated with intellectual developmental disorder 54.;

NCI Metathesaurus CUI : CL1773913;

GenBank Accession Number : AF172264;

Details

Origin ID

C185558;

UMLS CUI

C5575439;

Automatic exact mappings (from CISMeF team)
- Intellectual developmental disorder, autosomal recessive 54 [OMIM Phenotype]
- TRAF2 and NCK interacting kinase [ORDO Gene]
- Traf2- and nck-interacting kinase [OMIM gene]
OMIM relation
- Traf2- and nck-interacting kinase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- TNF Receptor Family Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Phosphorylation Process [NCIt concept]
- Serine/Threonine Phosphorylation [NCIt concept]
- Signal Transduction [NCIt concept]
- Signal Transduction Induction [NCIt concept]

Keyword's position in hierarchy(ies) :

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