EIF2AK3 wt Allele

Preferred Label : EIF2AK3 wt Allele;

NCIt synonyms : PEK; WRS; PERK; Eukaryotic Translation Initiation Factor 2-Alpha Kinase 3 Gene; Eukaryotic Translation Initiation Factor 2 Alpha Kinase 3 wt Allele;

NCIt definition : Human EIF2AK3 wild-type allele is located in the vicinity of 2p12 and is approximately 71 kb in length. This allele, which encodes eukaryotic translation initiation factor 2-alpha kinase 3 protein, is involved in both protein phosphorylation and the negative regulation of translation. Mutation of the gene is associated with Wolcott-Rallison syndrome.;

GenBank Accession Number : AF110146;

Details

Origin ID

C102828;

UMLS CUI

C3539819;

Automatic exact mappings (from CISMeF team)
- Eukaryotic translation initiation factor 2-alpha kinase 3 [OMIM gene]
- Long qt syndrome 1 [OMIM Phenotype]
- Wolcott-Rallison syndrome [ORDO Disease]
- eukaryotic translation initiation factor 2 alpha kinase 3 [ORDO Gene]
OMIM relation
- Eukaryotic translation initiation factor 2-alpha kinase 3 [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
- 2p12 [NCIt concept]
gene_is_element_in_pathway
- Alzheimer's Disease Pathway KEGG [NCIt concept]
- eIF2 Regulation Pathway [NCIt concept]
gene_plays_role_in_process
- Phosphorylation Process [NCIt concept]
- Serine/Threonine Phosphorylation [NCIt concept]
- Signal Transduction [NCIt concept]
- Translational Repression [NCIt concept]

Keyword's position in hierarchy(ies) :

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