SPEG wt Allele

Preferred Label : SPEG wt Allele;

NCIt synonyms : SPEGbeta; BPEG; CNM5; APEG-1; Aortic Preferentially Expressed Gene 1; KIAA1297; SPEGalpha; APEG1; Striated Muscle Enriched Protein Kinase wt Allele; SPEG Complex Locus Gene; MGC12676; Nuclear Protein, Marker for Differentiated Aortic Smooth Muscle and Down-Regulated with Vascular Injury Gene; MYLK6;

NCIt definition : Human SPEG wild-type allele is located in the vicinity of 2q35 and is approximately 59 kb in length. This allele, which encodes striated muscle preferentially expressed protein kinase protein, plays a role in serine/threonine phosphorylation and muscle cell development. Mutation of the gene is associated with centronuclear myopathy 5.;

NCI Metathesaurus CUI : CL1773713;

GenBank Accession Number : BC006346;

Details

Origin ID

C185543;

UMLS CUI

C5575274;

Automatic exact mappings (from CISMeF team)
- Myopathy, centronuclear, 5 [OMIM Phenotype]
- centronuclear myopathy 5 [DO Concept]
- striated muscle enriched protein kinase [ORDO Gene]
OMIM relation
- Speg complex locus [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 2q35 [NCIt concept]
gene_plays_role_in_process
- Cell Differentiation Process [NCIt concept]
- Myogenesis [NCIt concept]
- Phosphorylation Process [NCIt concept]
- Serine/Threonine Phosphorylation [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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