Search for a gene
TRPV4 - transient receptor potential cation channel subfamily V member 4
- Synonym(s) : CMT2C, osmosensitive transient receptor potential channel 4, OTRPC4, TRP12, VRL-2, VROAC, VR-OAC
- Previous symbols and names : transient receptor potential cation channel, subfamily V, member 4
- Type : gene with protein product
- Chromosomal location : 12q24.11
- OMIM: 605427
- HGNC: 18083
- UniProtKB: Q9HBA0
- Genatlas: TRPV4
- Ensembl: ENSG00000111199
- IUPHAR-DB: 510
- Reactome: Q9HBA0
- LOVD: TRPV4
Diseases list
- Disease-causing germline mutation(s) in Autosomal dominant Charcot-Marie-Tooth disease type 2C
ORPHA:99937 
- Disease-causing germline mutation(s) in Autosomal dominant congenital benign spinal muscular atrophy
ORPHA:1216 - Disease-causing germline mutation(s) in Metatropic dysplasia
ORPHA:2635 - Disease-causing germline mutation(s) in Parastremmatic dwarfism
ORPHA:2646 - Disease-causing germline mutation(s) in Scapuloperoneal spinal muscular atrophy
ORPHA:431255 - Disease-causing germline mutation(s) in Spondyloepiphyseal dysplasia, Maroteaux type
ORPHA:263482 - Disease-causing germline mutation(s) in Spondylometaphyseal dysplasia, Kozlowski type
ORPHA:93314 - Disease-causing germline mutation(s) (loss of function) in Familial digital arthropathy-brachydactyly
ORPHA:85169 - Disease-causing germline mutation(s) (gain of function) in Autosomal dominant brachyolmia
ORPHA:93304 - Disease-causing germline mutation(s) (gain of function) in Familial avascular necrosis of femoral head
ORPHA:86820
: AssessedGene included in a panel of genes performed as part of a diagnostic test
Additional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.