Gene: TRPV4 (transient receptor potential cation channel subfamily V member 4) Homo sapiens
Analyze
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
Orthologs:
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3812109,783,087 - 109,833,407 (-)NCBIGRCh38hg38GRCh38
GRCh3712110,220,892 - 110,271,212 (-)NCBIGRCh37hg19GRCh37
Build 3612108,705,277 - 108,755,595 (-)NCBINCBI36hg18NCBI36
Celera12109,845,179 - 109,895,568 (-)NCBI
Cytogenetic Map12q24.11NCBImapview
HuRef12107,237,035 - 107,287,147 (-)NCBI
CHM1_112110,188,702 - 110,239,020 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences