CCNK wt Allele

Preferred Label : CCNK wt Allele;

NCIt synonyms : CPR4; Cyclin K wt Allele; CYCK; IDDHDF;

NCIt definition : Human CCNK wild-type allele is located in the vicinity of 14q32.2 and is approximately 54 kb in length. This allele, which encodes cyclin-K protein, is involved in the regulation of RNA polymerase phosphorylation. Mutation of the gene is associated with intellectual developmental disorder with hypertelorism and distinctive facies.;

NCI Metathesaurus CUI : CL1407633;

GenBank Accession Number : AF060515;

Details

Origin ID

C173867;

UMLS CUI

C5401290;

Automatic exact mappings (from CISMeF team)
- Cyclin k [OMIM gene]
- cyclin K [ORDO Gene]
OMIM relation
- Cyclin k [OMIM gene]
See also inter- (CISMeF)
- Intellectual developmental disorder with hypertelorism and distinctive facies [OMIM Phenotype]
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
- 14q32.2 [NCIt concept]
gene_is_element_in_pathway
- p53 Effector Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Cycle Process [NCIt concept]
- Cell Cycle Regulation Process [NCIt concept]
- Protein Phosphorylation Process [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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