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
18 figures from 8 publications
Cross-Species Comparison
High Throughput Data
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
brachyolmia Alliance Brachyolmia type 3 113500
Charcot-Marie-Tooth disease axonal type 2C Alliance Hereditary motor and sensory neuropathy, type IIc 606071
distal hereditary motor neuronopathy type 8 Alliance Neuronopathy, distal hereditary motor, type VIII 600175
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
Domain IPR020683 Ankyrin repeat-containing domain
Family IPR008347 Transient receptor potential channel, vanilloid 1-4
Family IPR008348 Transient receptor potential channel, vanilloid 4
Family IPR024862 Transient receptor potential cation channel subfamily V
Homologous_superfamily IPR036770 Ankyrin repeat-containing domain superfamily
Repeat IPR002110 Ankyrin repeat
Domain Details Per Protein
Protein Length Ankyrin repeat Ankyrin repeat-containing domain Ankyrin repeat-containing domain superfamily Ion transport domain Transient receptor potential cation channel subfamily V Transient receptor potential channel, vanilloid 1-4 Transient receptor potential channel, vanilloid 4
UniProtKB:B3DJM9 841
UniProtKB:Q0PEH1 841
UniProtKB:A2BG42 856
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-trpv4 polyclonal IgG Rabbit
  • IHC
  • WB
Abcam plc
4
Ab2-trpv4 polyclonal Rabbit
  • IHC
  • WB
Abcam plc
2
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations