TRPV4 transient receptor potential cation channel subfamily V member 4

Gene ID: 59341, updated on 25-Sep-2024
Gene type: protein coding
Also known as: SMAL; VRL2; BCYM3; CMT2C; SPSMA; TRP12; VROAC; HMSN2C; OTRPC4; SSQTL1

Summary

This gene encodes a member of the OSM9-like transient receptor potential channel (OTRPC) subfamily in the transient receptor potential (TRP) superfamily of ion channels. The encoded protein is a Ca2+-permeable, nonselective cation channel that is thought to be involved in the regulation of systemic osmotic pressure. Mutations in this gene are the cause of spondylometaphyseal and metatropic dysplasia and hereditary motor and sensory neuropathy type IIC. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Avascular necrosis of femoral head, primary, 2 MedGen: C4479260OMIM: 617383GeneReviews: Autosomal Dominant TRPV4 Disorders	See labs
Brachyrachia (short spine dysplasia) MedGen: C0432227OMIM: 113500GeneReviews: Autosomal Dominant TRPV4 Disorders	See labs
Charcot-Marie-Tooth disease axonal type 2C MedGen: C1853710OMIM: 606071GeneReviews: Charcot-Marie-Tooth Hereditary Neuropathy Overview, Autosomal Dominant TRPV4 Disorders	See labs
Familial digital arthropathy-brachydactyly MedGen: C1847406OMIM: 606835GeneReviews: Autosomal Dominant TRPV4 Disorders	See labs
Metatropic dysplasia MedGen: C0265281OMIM: 156530GeneReviews: Autosomal Dominant TRPV4 Disorders	See labs
Neuronopathy, distal hereditary motor, autosomal dominant 8 MedGen: C1838492OMIM: 600175GeneReviews: Autosomal Dominant TRPV4 Disorders	See labs
Parastremmatic dwarfism MedGen: C1868616OMIM: 168400GeneReviews: Autosomal Dominant TRPV4 Disorders	See labs
Scapuloperoneal spinal muscular atrophy MedGen: C0751335OMIM: 181405GeneReviews: Autosomal Dominant TRPV4 Disorders	See labs
Sodium serum level quantitative trait locus 1 MedGen: C3150755OMIM: 613508GeneReviews: Not available	See labs
Spondyloepimetaphyseal dysplasia, Maroteaux type MedGen: C3159322OMIM: 184095GeneReviews: Autosomal Dominant TRPV4 Disorders	See labs
Spondylometaphyseal dysplasia, Kozlowski type MedGen: C0265280OMIM: 184252GeneReviews: Autosomal Dominant TRPV4 Disorders, Type II Collagen Disorders Overview	See labs

Genomic context

Location:: 12q24.11

Sequence:: Chromosome: 12; NC_000012.12 (109783087..109833398, complement)

Total number of exons:: 18

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for TRPV4 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
TRPV4 database
Variation Viewer
Related Variants

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