TRPV4 wt Allele

Preferred Label : TRPV4 wt Allele;

NCIt synonyms : Transient Receptor Potential Cation Channel Subfamily V Member 4 wt Allele; HMSN2C; Transient Receptor Potential Cation Channel, Subfamily V, Member 4 Gene; TRP12; OTRPC4; VROAC; CMT2C; BCYM3; VRL2; Transient Receptor Potential, Drosophila, Homolog of, 12 Gene; SMAL; SSQTL1; SPSMA;

NCIt definition : Human TRPV4 wild-type allele is located in the vicinity of 12q24.11 and is approximately 50 kb in length. This allele, which encodes transient receptor potential cation channel subfamily V member 4 protein, is involved in calcium transport and osmotic pressure regulation. Mutation of the gene is associated with various osmotic, skeletal and neuromuscular disorders.;

NCI Metathesaurus CUI : CL525046;

GenBank Accession Number : AF263523;

Details

Origin ID

C138112;

UMLS CUI

C4521360;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant Charcot-Marie-Tooth disease type 2C [ORDO Disease]
- Brachyolmia type 3 [OMIM Phenotype]
- Charcot-Marie-Tooth disease axonal type 2C [DO Concept]
- Hereditary motor and sensory neuropathy, type iic [OMIM Phenotype]
- Scapuloperoneal form of spinal muscular atrophy [ICD-11 More detail]
- Scapuloperoneal spinal muscular atrophy [OMIM Phenotype]
- Scapuloperoneal spinal muscular atrophy [ORDO Disease]
- Sodium serum level quantitative trait locus 1 [OMIM Phenotype]
- Transient receptor potential cation channel, subfamily V, member 4 [OMIM gene]
- hereditary motor and sensory neuropathy, type IIC [MeSH Supplementary Concept]
- scapuloperoneal spinal muscular atrophy [DO Concept]
- transient receptor potential cation channel subfamily V member 4 [ORDO Gene]
OMIM relation
- Transient receptor potential cation channel, subfamily V, member 4 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 12q24.11 [NCIt concept]
gene_is_element_in_pathway
- Ion Channels in Vascular Endothelium Pathway [NCIt concept]
gene_plays_role_in_process
- Calcium Signaling [NCIt concept]
- Cytoskeletal Modeling [NCIt concept]
- Homeostatic Process [NCIt concept]
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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