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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, Metatrophic dysplasia, 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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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 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
Metatrophic dysplasia
Sodium serum level quantitative trait locus 1
Spondyloepiphyseal dysplasia Maroteaux type
Spondylometaphyseal dysplasia, Kozlowski type


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

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