full name
transient receptor potential cation channel subfamily V member 4

synonyms
CMT2C, HMSN2C, OTRPC4, SMAL, SPSMA, SSQTL1, TRP12, VRL2, VROAC, TRPV4, ENSG00000111199

HGNC
HGNC:18083

Entrez Gene
Gene:59341

ENSEMBL
ENSG00000111199

location
chr: 12
start: 110220892
stop: 110271212
strand: -

OMIM
OMIM:605427: TRPV4
OMIM:617383: ?Avascular necrosis of femoral head, primary, 2
OMIM:113500: Brachyolmia type 3
OMIM:606835: Digital arthropathy-brachydactyly, familial
OMIM:606071: Hereditary motor and sensory neuropathy, type IIc
OMIM:156530: Metatropic dysplasia
OMIM:600175: Neuronopathy, distal hereditary motor, type VIII
OMIM:168400: Parastremmatic dwarfism
OMIM:184095: SED, Maroteaux type
OMIM:181405: Scapuloperoneal spinal muscular atrophy
OMIM:184252: Spondylometaphyseal dysplasia, Kozlowski type
OMIM:613508: [Sodium serum level QTL 1]

transcripts
NM_021625.4
NM_001177433.1
NM_001177428.1
NM_147204.2
NM_001177431.1

pathways
Fluid shear stress and atherosclerosis [NCBI:1474302] [KEGG:hsa05418] [PUBMED:23429585] [PUBMED:21050140] [PUBMED:17599600] [PUBMED:24190880] [PUBMED:22003002] [PUBMED:24876354] [PUBMED:24947523] [PUBMED:23899566] [PUBMED:26597822] [PUBMED:20353494] [PUBMED:22076424] [PUBMED:20538799] [PUBMED:25165867] [PUBMED:20032497] [PUBMED:23084990] [PUBMED:26822720] [PUBMED:24573382] [PUBMED:23555159] [PUBMED:26212910] [PUBMED:21457103] [PUBMED:19151844] [PUBMED:15388638] [PUBMED:16765337] [PUBMED:27027326] [PUBMED:25638487] [PUBMED:21733876]
Inflammatory mediator regulation of TRP channels [NCBI:948277] [KEGG:hsa04750] [PUBMED:21841075] [PUBMED:15820689] [PUBMED:16776582] [PUBMED:12838328] [PUBMED:17548207] [PUBMED:16319926] [PUBMED:18427980] [PUBMED:20932256] [PUBMED:18615141] [PUBMED:17124270] [PUBMED:17684094] [PUBMED:22470230] [PUBMED:19074743] [PUBMED:23000387] [PUBMED:24099085] [PUBMED:17321113]
Ion channel transport [NCBI:1269950] [REACTOME:R-HSA-983712] [PUBMED:15071553]
Stimuli-sensing channels [NCBI:1269953] [REACTOME:R-HSA-2672351] [PUBMED:15728426] [PUBMED:16460286] [PUBMED:12907679] [PUBMED:18391176] [PUBMED:19278523] [PUBMED:11904445] [PUBMED:22934072] [PUBMED:20807551] [PUBMED:19783045] [PUBMED:16219661] [PUBMED:21932071] [PUBMED:22277752]
TRP channels [NCBI:1269954] [REACTOME:R-HSA-3295583] [PUBMED:20716668] [PUBMED:20347603] [PUBMED:20025796] [PUBMED:20127491]
Transmembrane transport of small molecules [NCBI:1269903] [REACTOME:R-HSA-382551]