PRRT2 wt Allele

Preferred Label : PRRT2 wt Allele;

NCIt synonyms : FLJ25513; Interferon Induced Transmembrane Protein Domain Containing 1 Gene; DKFZp547J199; EKD1; DYT10; Proline-Rich Transmembrane Protein 2 wt Allele; PKC; IFITMD1;

NCIt definition : Human PRRT2 wild-type allele is located in the vicinity of 16p11.2 and is approximately 4 kb in length. This allele, which encodes proline-rich transmembrane protein 2, may be involved in the development of the brain and spinal cord. Mutation of the gene is associated with both episodic kinesigenic dyskinesia-1 and infantile convulsion and choreoathetosis syndrome.;

GenBank Accession Number : BC011405;

Details

Origin ID

C101621;

UMLS CUI

C3539645;

Automatic exact mappings (from CISMeF team)
- Episodic kinesigenic dyskinesia 1 [OMIM Phenotype]
- diacylglycerol-dependent serine/threonine kinase activity [GO term]
- familial paroxysmal dystonia [MeSH Supplementary Concept]
- proline rich transmembrane protein 2 [ORDO Gene]
- protein kinase C [MeSH Descriptor]
- protein serine/threonine kinase activity [GO term]
OMIM relation
- Proline-rich transmembrane protein 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 16p11.2 [NCIt concept]

Keyword's position in hierarchy(ies) :

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