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 enable calcium channel activity. Acts upstream of or within atrioventricular valve development; cellular response to oscillatory fluid shear stress; and response to osmotic stress. Predicted to be located in membrane. Predicted to be active in cilium and plasma membrane. Is expressed in several structures, including brain; head; pectoral fin; pericardial region; and sensory system. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2C; motor neuron disease (multiple); osteochondrodysplasia (multiple); and osteonecrosis. 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
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
Allele Type Localization Consequence Mutagen Supplier
sa84Allele with one point mutationUnknownUnknownENU
sa1671Allele with one point mutationExon 12Premature StopENU
sa15329Allele with one point mutationUnknownPremature StopENU
sa26435Allele with one point mutationUnknownSplice SiteENU
whu313Allele with one deletionExon 4UnknownCRISPR
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Sequence Targeting Reagents
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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
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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
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Domain Details Per Protein
Protein Additional Resources Length Ankyrin repeat Ankyrin repeat-containing domain superfamily Ion transport domain Transient receptor potential cation channel subfamily V Transient receptor potential cation channel subfamily V member 1-4 Transient receptor potential cation channel subfamily V member 4
UniProtKB:A0A8M2BCH8 InterPro 859
UniProtKB:Q0PEH1 InterPro 841
UniProtKB:A0A8M2BCE0 InterPro 858
UniProtKB:A0AB32TN82 InterPro 828
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 5
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA trpv4-201 (1) Ensembl 2,741 nt
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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
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Plasmids
No data available
Constructs
No data available
Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACDKEY-234H16ZFIN Curated Data
EncodesESTfp52e02Woods et al., 2005
EncodescDNAMGC:195087ZFIN Curated Data
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanTRPV412
Amino acid sequence comparison (5)
Phylogenetic tree (1)
Conserved genome location (synteny) (3)
MouseTrpv45
Amino acid sequence comparison (4)
Citations
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