Gene

trpv4

ID

ZDB-GENE-030912-7

Name

transient receptor potential cation channel, subfamily V, member 4

Symbol

trpv4 Nomenclature History

Previous Names

wu:fp52e02

Type

protein_coding_gene

Location

Chr: 5 Mapping Details/Browsers

Description

Predicted to have calcium channel activity. Involved in atrioventricular valve development; cellular response to oscillatory fluid shear stress; and response to osmotic stress. Predicted to localize to integral component of plasma membrane. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2C; motor neuron disease (multiple); osteochondrodysplasia (multiple); and osteonecrosis. Is expressed in several structures, including head; heart; pectoral fin; pleuroperitoneal region; and sensory system. Orthologous to human TRPV4 (transient receptor potential cation channel subfamily V member 4).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

19 figures from 9 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 8 figures from 3 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With trpv4 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
autosomal dominant distal hereditary motor neuronopathy 8	Alliance	Neuronopathy, distal hereditary motor, autosomal dominant 8	600175
brachyolmia	Alliance	Brachyolmia type 3	113500
Charcot-Marie-Tooth disease axonal type 2C	Alliance	Hereditary motor and sensory neuropathy, type IIc	606071
metatropic dysplasia	Alliance	Metatropic dysplasia	156530
parastremmatic dwarfism	Alliance	Parastremmatic dwarfism	168400
scapuloperoneal spinal muscular atrophy	Alliance	Scapuloperoneal spinal muscular atrophy	181405
spondyloepiphyseal dysplasia Maroteaux type	Alliance	SED, Maroteaux type	184095
spondylometaphyseal dysplasia Kozlowski type	Alliance	Spondylometaphyseal dysplasia, Kozlowski type	184252
		Digital arthropathy-brachydactyly, familial	606835
		?Avascular necrosis of femoral head, primary, 2	617383
		[Sodium serum level QTL 1]	613508

Associated With trpv4 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR005821	Ion transport domain
Family	IPR008347	Transient receptor potential cation channel subfamily V member 1-4
Family	IPR008348	Transient receptor potential cation channel subfamily V member 4
Family	IPR024862	Transient receptor potential cation channel subfamily V
Homologous_superfamily	IPR036770	Ankyrin repeat-containing domain superfamily
Repeat	IPR002110	Ankyrin repeat