The TRPV4 gene homepage

General information
Gene symbol TRPV4
Gene name transient receptor potential cation channel, subfamily V, member 4
Chromosome 12
Chromosomal band q24.1
Imprinted Unknown
Genomic reference LRG_372
Transcript reference NM_021625.4
Exon/intron information NM_021625.4 exon/intron table
Associated with diseases ANFH2, BCYM, BCYM3, CMT2C, FDAB, HMN8, SMDK, SPSMA, SSQTL1, dwarfism, parastremmatic, dysplasia, metatrophic, dysplasia, spondyloepiphyseal, Maroteaux type
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 193
Unique public DNA variants reported 118
Individuals with public variants 81
Hidden variants 13
Date created May 03, 2013
Date last updated May 09, 2022
Version TRPV4:220509

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_021625.4.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 18083
Entrez Gene 59341
PubMed articles TRPV4
OMIM - Gene 605427
OMIM - Diseases ANFH2 (?Avascular necrosis of femoral head, primary, 2)
BCYM3 (brachyolmia, type 3 (BCYM-3))
FDAB (Digital arthropathy-brachydactyly, familial)
HMN8 (Neuronopathy, distal hereditary motor, type VIII)
SMDK (Spondylometaphyseal dysplasia, Kozlowski type)
SPSMA (atrophy, muscular, spinal, scapuloperoneal)
SSQTL1 (Sodium serum level quantitative trait locus 1)
dwarfism, parastremmatic
dysplasia, metatrophic
dysplasia, spondyloepiphyseal, Maroteaux type
Orphanet TRPV4

Active transcripts




NCBI ID     

NCBI Protein ID     

00021919 12 transcript variant 1 NM_021625.4 NP_067638.3 193

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