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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
Associated with diseases CMT-2C, atrophy, muscular, spinal, distal, congenital nonprogressive, atrophy, muscular, spinal, scapuloperoneal, Brachyrachia (short spine dysplasia), Digital arthropathy-brachydactyly, familial, dwarfism, parastremmatic, dysplasia, metatrophic, Sodium serum level quantitative trait locus 1, Spondyloepiphyseal dysplasia Maroteaux type, Spondylometaphyseal dysplasia, Kozlowski type
Citation reference(s) -
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 18
Unique public DNA variants reported 17
Individuals with public variants 18
Hidden variants 0
Date created May 03, 2013
Date last updated April 02, 2015
Version TRPV4:150402

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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 CMT-2C (Charcot-Marie-Tooth disease, type 2C (CMT-2C))
atrophy, muscular, spinal, distal, congenital nonprogressive
atrophy, muscular, spinal, scapuloperoneal
Brachyrachia (short spine dysplasia)
Digital arthropathy-brachydactyly, familial
dwarfism, parastremmatic
dysplasia, metatrophic
Sodium serum level quantitative trait locus 1
Spondyloepiphyseal dysplasia Maroteaux type
Spondylometaphyseal dysplasia, Kozlowski type

Active transcripts




NCBI ID     

NCBI Protein ID     

00021919 12 transcript variant 1 NM_021625.4 NP_067638.3 18