Gene: TRPV4 (transient receptor potential cation channel subfamily V member 4) Homo sapiens
Symbol: TRPV4
Name: transient receptor potential cation channel subfamily V member 4
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BCYM3; CMT2C; HMSN2C; osm-9-like TRP channel 4; OSM9-like transient receptor potential channel 4; osmosensitive transient receptor potential channel 4; OTRPC4; OTTHUMP00000240659; OTTHUMP00000240660; OTTHUMP00000240662; OTTHUMP00000240663; OTTHUMP00000240664; OTTHUMP00000240665; SMAL; SPSMA; SSQTL1; transient receptor potential cation channel, subfamily V, member 4; transient receptor potential protein 12; TRP12; vanilloid receptor-like channel 2; vanilloid receptor-related osmotically activated channel; VR-OAC; VRL-2; VRL2; VROAC
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh3812109,783,087 - 109,833,407 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3712110,220,892 - 110,271,212 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3612108,705,277 - 108,755,595 (-)NCBINCBI36hg18NCBI36
Celera12109,845,179 - 109,895,568 (-)NCBI
Cytogenetic Map12q24.11NCBI
HuRef12107,237,035 - 107,287,147 (-)NCBIHuRef
CHM1_112110,188,702 - 110,239,020 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated
RGD Disease Portals


Comparative Map Data
Position Markers
miRNA Target Status


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on TRPV4
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1604803
Created: 2007-04-28
Species: Homo sapiens
Last Modified: 2018-03-13
Status: ACTIVE