AKAP4 wt Allele

Preferred Label : AKAP4 wt Allele;

NCIt synonyms : A-Kinase Anchoring Protein 4 wt Allele; hAKAP82; AKAP-4; HI; FSC1, Mouse, Homolog of Gene; Testis-Specific Gene HI; A Kinase (PRKA) Anchor Protein 4 Gene; CT99; AKAP82; FSC1; AKAP 82; A-Kinase Anchor Protein, 82-kD Gene; p82;

NCIt definition : Human AKAP4 wild-type allele is located in the vicinity of Xp11.22 and is approximately 10 kb in length. This allele, which encodes A-kinase anchor protein 4, plays a role in both protein kinase A localization and sperm motility. Aberrant expression may be associated with neoplastic disease.;

NCI Metathesaurus CUI : CL541399;

GenBank Accession Number : AF072756;

Details

Origin ID

C142995;

UMLS CUI

C4552857;

Automatic exact mappings (from CISMeF team)
- A-kinase anchor protein 4 [OMIM gene]
- A-kinase anchoring protein 4 [HGNC gene]
- ATP binding cassette subfamily C member 8 [ORDO Gene]
- Deafness not otherwise specified [ICD-11 Category]
- Harlequin ichthyosis [ORDO Disease]
- Ichthyosis, congenital, autosomal recessive 4b [OMIM Phenotype]
- Injuries to the head [Bloc CIM-11]
- history [MeSH Descriptor]
OMIM relation
- A-kinase anchor protein 4 [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
- Xp11.22 [NCIt concept]
gene_plays_role_in_process
- Protein-Protein Interaction [NCIt concept]
- Receptor Signaling [NCIt concept]
- Reproductive Process [NCIt concept]
- Signal Transduction [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]

Keyword's position in hierarchy(ies) :

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