Homo sapiens Gene: TRPV4
Summary
InnateDB Gene IDBG-56364.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TRPV4
Gene Name transient receptor potential cation channel, subfamily V, member 4
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000111199
Encoded Proteins
transient receptor potential cation channel, subfamily V, member 4
transient receptor potential cation channel, subfamily V, member 4
transient receptor potential cation channel, subfamily V, member 4
transient receptor potential cation channel, subfamily V, member 4
transient receptor potential cation channel, subfamily V, member 4
transient receptor potential cation channel, subfamily V, member 4
transient receptor potential cation channel, subfamily V, member 4
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a member of the OSM9-like transient receptor potential channel (OTRPC) subfamily in the transient receptor potential (TRP) superfamily of ion channels. The encoded protein is a Ca2+-permeable, nonselective cation channel that is thought to be involved in the regulation of systemic osmotic pressure. Mutations in this gene are the cause of spondylometaphyseal and metatropic dysplasia and hereditary motor and sensory neuropathy type IIC. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 12:109783085-109833401
Strand Reverse strand
Band q24.11
Transcripts
ENST00000261740 ENSP00000261740
ENST00000418703 ENSP00000406191
ENST00000538125 ENSP00000437449
ENST00000544971 ENSP00000443611
ENST00000537083 ENSP00000442738
ENST00000541794 ENSP00000442167
ENST00000536838 ENSP00000444336
ENST00000536570
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 19 experimentally validated interaction(s) in this database.
Experimentally validated
Total 19 [view]
Protein-Protein 17 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003779 actin binding
GO:0005034 osmosensor activity
GO:0005080 protein kinase C binding
GO:0005216 ion channel activity
GO:0005261 cation channel activity
GO:0005262 calcium channel activity
GO:0005515 protein binding
GO:0005516 calmodulin binding
GO:0005524 ATP binding
GO:0008017 microtubule binding
GO:0019901 protein kinase binding
GO:0042169 SH2 domain binding
GO:0043014 alpha-tubulin binding
GO:0048487 beta-tubulin binding
GO:0051015 actin filament binding
Biological Process
GO:0006811 ion transport
GO:0006816 calcium ion transport
GO:0006874 cellular calcium ion homeostasis
GO:0006884 cell volume homeostasis
GO:0006970 response to osmotic stress
GO:0006971 hypotonic response
GO:0007015 actin filament organization
GO:0007043 cell-cell junction assembly
GO:0007204 positive regulation of cytosolic calcium ion concentration
GO:0007231 osmosensory signaling pathway
GO:0008219 cell death
GO:0009612 response to mechanical stimulus
GO:0010977 negative regulation of neuron projection development
GO:0030103 vasopressin secretion
GO:0031117 positive regulation of microtubule depolymerization
GO:0031532 actin cytoskeleton reorganization
GO:0034220 ion transmembrane transport
GO:0034605 cellular response to heat
GO:0042538 hyperosmotic salinity response
GO:0043622 cortical microtubule organization
GO:0046785 microtubule polymerization
GO:0047484 regulation of response to osmotic stress
GO:0055085 transmembrane transport
GO:0070509 calcium ion import
GO:0070588 calcium ion transmembrane transport
GO:0071470 cellular response to osmotic stress
GO:0071476 cellular hypotonic response
Cellular Component
GO:0005881 cytoplasmic microtubule
GO:0005886 plasma membrane
GO:0005912 adherens junction
GO:0005925 focal adhesion
GO:0005929 cilium
GO:0009986 cell surface
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030027 lamellipodium
GO:0030175 filopodium
GO:0030426 growth cone
GO:0030864 cortical actin cytoskeleton
GO:0031410 cytoplasmic vesicle
GO:0032587 ruffle membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Transmembrane transport of small molecules pathway
Stimuli-sensing channels pathway
Ion channel transport pathway
TRP channels pathway
KEGG
INOH
PID BIOCARTA
Ion channels and their functional role in vascular endothelium [Biocarta view]
PID NCI
Cross-References
SwissProt Q9HBA0
TrEMBL
UniProt Splice Variant
Entrez Gene 59341
UniGene Hs.506713 Hs.597590
RefSeq NM_001177433 NM_021625 NM_147204 NM_001177428 NM_001177431 XM_005253918 XM_005253919
HUGO HGNC:18083
OMIM 605427
CCDS CCDS53827 CCDS9134 CCDS9135 CCDS53828 CCDS53829
HPRD 05667
IMGT
EMBL AB032427 AB073669 AB100308 AF258465 AF263523 AF279673 AJ296305 BC117426 BC143315 CH471054 DQ059644 DQ059645 DQ059646
GenPept AAG16127 AAG28029 AAI17427 AAI43316 AAK69487 AAZ04918 AAZ04919 AAZ04920 BAB69040 BAC06573 BAC55864 CAC82937 EAW97879
RNA Seq Atlas 59341