Trpv4 transient receptor potential cation channel, subfamily V, member 4 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Trpv4provided by MGI
Official Full Name: transient receptor potential cation channel, subfamily V, member 4provided by MGI
Primary source: MGI:MGI:1926945
See related: Ensembl:ENSMUSG00000014158 AllianceGenome:MGI:1926945
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Trp12; VRL-2; VROAC; OTRPC4; VR-OAC; 0610033B08Rik
Summary: Enables several functions, including SH2 domain binding activity; calcium channel activity; and osmosensor activity. Involved in several processes, including cellular response to osmotic stress; positive regulation of MAPK cascade; and positive regulation of cytokine production. Acts upstream of or within hyperosmotic salinity response; regulation of response to osmotic stress; and vasopressin secretion. Located in adherens junction and cilium. Is active in plasma membrane. Is expressed in several structures, including brain; limb; respiratory system; sensory organ; and skeleton. Used to study autosomal dominant nonsyndromic deafness 25. 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). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in kidney adult (RPKM 53.0), bladder adult (RPKM 22.4) and 7 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 F; 5 55.99 cM

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (114760213..114796497, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (114622152..114658435, complement)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Identification and Properties of TRPV4 Mutant Channels Present in Polycystic Kidney Disease Patients.
Title: Identification and Properties of TRPV4 Mutant Channels Present in Polycystic Kidney Disease Patients.
TRPV4 Regulates the Macrophage Metabolic Response to Limit Sepsis-induced Lung Injury.
Title: TRPV4 Regulates the Macrophage Metabolic Response to Limit Sepsis-induced Lung Injury.
Involvement of TRPV4 in temperature-dependent perspiration in mice.
Title: Involvement of TRPV4 in temperature-dependent perspiration in mice.
ATF4 inhibits TRPV4 function and controls itch perception in rodents and nonhuman primates.
Title: ATF4 inhibits TRPV4 function and controls itch perception in rodents and nonhuman primates.
Transient receptor potential vanilloid 4 regulates extracellular matrix composition and mediates load-induced intervertebral disc degeneration in a mouse model.
Title: Transient receptor potential vanilloid 4 regulates extracellular matrix composition and mediates load-induced intervertebral disc degeneration in a mouse model.
TRPV4 mediates IL-1-induced Ca[2+] signaling, ERK activation and MMP expression.
Title: TRPV4 mediates IL-1-induced Ca(2+) signaling, ERK activation and MMP expression.
AQP4 regulates ferroptosis and oxidative stress of Muller cells in diabetic retinopathy by regulating TRPV4.
Title: AQP4 regulates ferroptosis and oxidative stress of Muller cells in diabetic retinopathy by regulating TRPV4.
Gain-of-function mutations of TRPV4 acting in endothelial cells drive blood-CNS barrier breakdown and motor neuron degeneration in mice.
Title: Gain-of-function mutations of TRPV4 acting in endothelial cells drive blood-CNS barrier breakdown and motor neuron degeneration in mice.
TRPV4 in adipose tissue ameliorates diet-induced obesity by promoting white adipocyte browning.
Title: TRPV4 in adipose tissue ameliorates diet-induced obesity by promoting white adipocyte browning.
TRPV4 Channels Promote Pathological, but Not Physiological, Cardiac Remodeling through the Activation of Calcineurin/NFAT and TRPC6.
Title: TRPV4 Channels Promote Pathological, but Not Physiological, Cardiac Remodeling through the Activation of Calcineurin/NFAT and TRPC6.

Submit: New GeneRIF Correction See all GeneRIFs (314)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (7)
Targeted (13) 1 citation

General gene information

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Markers

Trpv4 (e-PCR), detects polymorphism
- UniSTS:531257

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables SH2 domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables actin binding	ISO Inferred from Sequence Orthology more info
enables actin filament binding	IEA Inferred from Electronic Annotation more info
enables actin filament binding	ISO Inferred from Sequence Orthology more info
enables alpha-tubulin binding	IEA Inferred from Electronic Annotation more info
enables alpha-tubulin binding	ISO Inferred from Sequence Orthology more info
enables beta-tubulin binding	IEA Inferred from Electronic Annotation more info
enables beta-tubulin binding	ISO Inferred from Sequence Orthology more info
enables calcium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables calcium channel activity	IDA Inferred from Direct Assay more info	PubMed
enables calcium channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables calcium channel activity	ISO Inferred from Sequence Orthology more info
enables calmodulin binding	ISO Inferred from Sequence Orthology more info
enables calmodulin binding	ISS Inferred from Sequence or Structural Similarity more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables lipid binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables microtubule binding	IEA Inferred from Electronic Annotation more info
enables microtubule binding	ISO Inferred from Sequence Orthology more info
enables monoatomic cation channel activity	ISO Inferred from Sequence Orthology more info
enables monoatomic cation channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables osmosensor activity	IDA Inferred from Direct Assay more info	PubMed
enables osmosensor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase C binding	IEA Inferred from Electronic Annotation more info
enables protein kinase C binding	ISO Inferred from Sequence Orthology more info
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	ISO Inferred from Sequence Orthology more info
enables stretch-activated, monoatomic cation-selective, calcium channel activity	IEA Inferred from Electronic Annotation more info
enables stretch-activated, monoatomic cation-selective, calcium channel activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in actin cytoskeleton organization	ISO Inferred from Sequence Orthology more info
involved_in actin filament organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin filament organization	IEA Inferred from Electronic Annotation more info
involved_in actin filament organization	ISO Inferred from Sequence Orthology more info
involved_in blood vessel endothelial cell delamination	IEA Inferred from Electronic Annotation more info
involved_in blood vessel endothelial cell delamination	ISO Inferred from Sequence Orthology more info
involved_in calcium ion import	IDA Inferred from Direct Assay more info	PubMed
involved_in calcium ion import	ISO Inferred from Sequence Orthology more info
involved_in calcium ion import across plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in calcium ion import into cytosol	ISO Inferred from Sequence Orthology more info
involved_in calcium ion import into cytosol	ISS Inferred from Sequence or Structural Similarity more info
involved_in calcium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in calcium ion transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in calcium ion transport	ISO Inferred from Sequence Orthology more info
involved_in cartilage development involved in endochondral bone morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in cartilage development involved in endochondral bone morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in cell-cell junction assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular hypotonic response	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular hypotonic response	ISO Inferred from Sequence Orthology more info
involved_in cellular hypotonic salinity response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to heat	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to osmotic stress	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cortical microtubule organization	IEA Inferred from Electronic Annotation more info
involved_in cortical microtubule organization	ISO Inferred from Sequence Orthology more info
involved_in diet induced thermogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in energy homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glucose homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hyperosmotic salinity response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hypotonic response	ISO Inferred from Sequence Orthology more info
involved_in intracellular calcium ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular calcium ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in intracellular calcium ion homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in microtubule polymerization	IEA Inferred from Electronic Annotation more info
involved_in microtubule polymerization	ISO Inferred from Sequence Orthology more info
involved_in multicellular organismal-level water homeostasis	IEA Inferred from Electronic Annotation more info
involved_in multicellular organismal-level water homeostasis	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of brown fat cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of neuron projection development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of neuron projection development	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in osmosensory signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within osmosensory signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in osmosensory signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within osmosensory signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of ERK1 and ERK2 cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of JNK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of chemokine (C-C motif) ligand 5 production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of chemokine (C-X-C motif) ligand 1 production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cytosolic calcium ion concentration	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cytosolic calcium ion concentration	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of inflammatory response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of interleukin-6 production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of macrophage chemotaxis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of macrophage inflammatory protein 1 alpha production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of microtubule depolymerization	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of microtubule depolymerization	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of monocyte chemotactic protein-1 production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of striated muscle contraction	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of striated muscle contraction	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of vascular permeability	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of vascular permeability	ISO Inferred from Sequence Orthology more info
involved_in regulation of aerobic respiration	IMP Inferred from Mutant Phenotype more info	PubMed
NOT involved_in regulation of p38MAPK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of response to osmotic stress	IMP Inferred from Mutant Phenotype more info	PubMed
NOT involved_in response to fatty acid	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in response to insulin	IMP Inferred from Mutant Phenotype more info	PubMed
NOT involved_in response to lipopolysaccharide	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to osmotic stress	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within response to osmotic stress	IPI Inferred from Physical Interaction more info	PubMed
acts_upstream_of_or_within vasopressin secretion	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in adherens junction	IDA Inferred from Direct Assay more info	PubMed
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
located_in cell surface	IEA Inferred from Electronic Annotation more info
located_in cell surface	ISO Inferred from Sequence Orthology more info
is_active_in cilium	IBA Inferred from Biological aspect of Ancestor more info
located_in cilium	IDA Inferred from Direct Assay more info	PubMed
located_in cortical actin cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in cortical actin cytoskeleton	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic microtubule	IEA Inferred from Electronic Annotation more info
located_in cytoplasmic microtubule	ISO Inferred from Sequence Orthology more info
located_in filopodium	IEA Inferred from Electronic Annotation more info
located_in filopodium	ISO Inferred from Sequence Orthology more info
located_in focal adhesion	IEA Inferred from Electronic Annotation more info
located_in focal adhesion	ISO Inferred from Sequence Orthology more info
located_in growth cone	IEA Inferred from Electronic Annotation more info
located_in growth cone	ISO Inferred from Sequence Orthology more info
located_in lamellipodium	IEA Inferred from Electronic Annotation more info
located_in lamellipodium	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in ruffle membrane	IEA Inferred from Electronic Annotation more info
located_in ruffle membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: transient receptor potential cation channel subfamily V member 4

Names: osm-9-like TRP channel 4; osmosensitive transient receptor potential channel 4; transient receptor potential protein 12; trpv4 channel; vanilloid receptor-like channel 2; vanilloid receptor-like protein 2; vanilloid receptor-related osmotically-activated channel

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_022017.3 → NP_071300.2 transient receptor potential cation channel subfamily V member 4

See identical proteins and their annotated locations for NP_071300.2

Status: VALIDATED

Source sequence(s)

AF279672, AK002735, BC127052

Consensus CDS

CCDS19568.1

UniProtKB/Swiss-Prot

A0JNY0, Q91XR5, Q9EPK8, Q9EQZ4, Q9ERZ7, Q9ES76

UniProtKB/TrEMBL

E9Q7L7

Related

ENSMUSP00000071859.3, ENSMUST00000071968.9

Conserved Domains (2) summary

TIGR00870
Location:149 → 803

trp; transient-receptor-potential calcium channel protein

sd00045
Location:237 → 268

ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000071.7 Reference GRCm39 C57BL/6J

Range

114760213..114796497 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006530432.2 → XP_006530495.2 transient receptor potential cation channel subfamily V member 4 isoform X1

See identical proteins and their annotated locations for XP_006530495.2

UniProtKB/Swiss-Prot

A0JNY0, Q91XR5, Q9EPK8, Q9EQZ4, Q9ERZ7, Q9ES76

UniProtKB/TrEMBL

E9Q7L7

Related

ENSMUSP00000107844.2, ENSMUST00000112225.8

Conserved Domains (2) summary

TIGR00870
Location:149 → 803

trp; transient-receptor-potential calcium channel protein

sd00045
Location:237 → 268

ANK; ANK repeat [structural motif]
XM_011248235.1 → XP_011246537.1 transient receptor potential cation channel subfamily V member 4 isoform X2

UniProtKB/TrEMBL

E9Q7L7

Conserved Domains (2) summary

TIGR00870
Location:149 → 737

trp; transient-receptor-potential calcium channel protein

sd00045
Location:237 → 268

ANK; ANK repeat [structural motif]
XM_036165405.1 → XP_036021298.1 transient receptor potential cation channel subfamily V member 4 isoform X3

Conserved Domains (2) summary

sd00045
Location:237 → 268

ANK; ANK repeat [structural motif]

cl40437
Location:103 → 553

TRPV; Transient Receptor Potential channel, Vanilloid subfamily (TRPV)