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
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

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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 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


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

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


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2013-2017. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.