CSNK1D wt Allele

Preferred Label : CSNK1D wt Allele;

NCIt synonyms : ASPS; CKIdelta; FASPS2; Casein Kinase 1, Delta wt Allele; HCKID;

NCIt definition : Human CSNK1D wild-type allele is located in the vicinity of 17q25 and is approximately 35 kb in length. This allele, which encodes casein kinase I isoform delta protein, plays a role in protein phosphorylation, cellular growth and cellular survival. Mutation of the gene is associated with familial advanced sleep phase syndrome-2.;

GenBank Accession Number : NM_139062;

Détails

Origin ID

C125589;

UMLS CUI

C4084895;

Automatic exact mappings (from CISMeF team)
- ASPED [MedDRA LLT]
- ASPSCR1 tether for SLC2A4, UBX domain containing [ORDO Gene]
- Advanced sleep phase syndrome, familial, 2 [OMIM Phenotype]
- Alveolar soft part sarcoma [OMIM Phenotype]
- Alveolar soft tissue sarcoma [ORDO Disease]
- Angel-shaped phalango-epiphyseal dysplasia [ORDO Disease]
- Angel-shaped phalangoepiphyseal dysplasia [OMIM Phenotype]
- advanced sleep phase syndrome 2 [DO Concept]
- assembly factor for spindle microtubules [ORDO Gene]
- casein kinase 1 delta [ORDO Gene]
- viperidae [MeSH Descriptor]
OMIM relation
- Casein kinase I, delta [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 17q25 [NCIt concept]
gene_is_element_in_pathway
- CK1/CDK5 Regulation Pathway [NCIt concept]
- Circadian Rhythm Pathway KEGG [NCIt concept]
- Gap Junction Assembly Pathway [NCIt concept]
- Hedgehog Signaling Pathway [NCIt concept]
- Hippo Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- DNA Repair [NCIt concept]
- Mitosis [NCIt concept]
- Phosphorylation Process [NCIt concept]
- Regulation of Cell Shape [NCIt concept]
- Serine/Threonine Phosphorylation [NCIt concept]
- Signal Transduction [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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