TRPV4 Gene (Protein Coding)

Transient Receptor Potential Cation Channel Subfamily V Member 4

GC12M109783
GIFtS:
50
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 an... See more...

Aliases for TRPV4 Gene

Aliases for TRPV4 Gene

  • Transient Receptor Potential Cation Channel Subfamily V Member 4 2 3 4 5
  • OTRPC4 2 3 4
  • TRP12 2 3 4
  • VROAC 2 3 4
  • Osmosensitive Transient Receptor Potential Channel 4 2 3
  • Transient Receptor Potential Protein 12 3 4
  • Vanilloid Receptor-Like Channel 2 3 4
  • Osm-9-Like TRP Channel 4 3 4
  • VR-OAC 2 4
  • CMT2C 2 3
  • VRL-2 2 4
  • VRL2 3 4
  • Transient Receptor Potential Cation Channel, Subfamily V, Member 4 2
  • Vanilloid Receptor-Related Osmotically Activated Channel 3
  • Vanilloid Receptor-Related Osmotically-Activated Channel 4
  • OSM9-Like Transient Receptor Potential Channel 4 3
  • Vanilloid Receptor-Like Protein 2 4
  • HMSN2C 3
  • SSQTL1 3
  • BCYM3 3
  • SPSMA 3
  • TRPV4 5
  • TrpV4 4
  • SMAL 3

External Ids for TRPV4 Gene

Previous GeneCards Identifiers for TRPV4 Gene

  • GC12M109279
  • GC12M110059
  • GC12M108683
  • GC12M110220
  • GC12M107238

Summaries for TRPV4 Gene

Entrez Gene Summary for TRPV4 Gene

  • 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]

GeneCards Summary for TRPV4 Gene

TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4) is a Protein Coding gene. Diseases associated with TRPV4 include Scapuloperoneal Spinal Muscular Atrophy and Hereditary Motor And Sensory Neuropathy, Type Iic. Among its related pathways are Ion channel transport and TRP channels. Gene Ontology (GO) annotations related to this gene include protein kinase binding and microtubule binding. An important paralog of this gene is TRPV1.

UniProtKB/Swiss-Prot Summary for TRPV4 Gene

  • Non-selective calcium permeant cation channel involved in osmotic sensitivity and mechanosensitivity. Activation by exposure to hypotonicity within the physiological range exhibits an outward rectification (PubMed:18826956, PubMed:18695040, PubMed:29899501). Also activated by heat, low pH, citrate and phorbol esters (PubMed:16293632, PubMed:18826956, PubMed:18695040, PubMed:25256292, PubMed:20037586, PubMed:21964574). Increase of intracellular Ca(2+) potentiates currents. Channel activity seems to be regulated by a calmodulin-dependent mechanism with a negative feedback mechanism (PubMed:12724311, PubMed:18826956). Promotes cell-cell junction formation in skin keratinocytes and plays an important role in the formation and/or maintenance of functional intercellular barriers (By similarity). Acts as a regulator of intracellular Ca(2+) in synoviocytes (PubMed:19759329). Plays an obligatory role as a molecular component in the nonselective cation channel activation induced by 4-alpha-phorbol 12,13-didecanoate and hypotonic stimulation in synoviocytes and also regulates production of IL-8 (PubMed:19759329). Together with PKD2, forms mechano- and thermosensitive channels in cilium (PubMed:18695040). Negatively regulates expression of PPARGC1A, UCP1, oxidative metabolism and respiration in adipocytes (By similarity). Regulates expression of chemokines and cytokines related to proinflammatory pathway in adipocytes (By similarity). Together with AQP5, controls regulatory volume decrease in salivary epithelial cells (By similarity). Required for normal development and maintenance of bone and cartilage (PubMed:26249260). In its inactive state, may sequester DDX3X at the plasma membrane. When activated, the interaction between both proteins is affected and DDX3X relocalizes to the nucleus (PubMed:29899501).
  • [Isoform 5]: Non-selective calcium permeant cation channel involved in osmotic sensitivity and mechanosensitivity. Activation by exposure to hypotonicity within the physiological range exhibits an outward rectification. Also activated by phorbol esters. Has the same channel activity as isoform 1, and is activated by the same stimuli.
  • [Isoform 2]: Lacks channel activity, due to impaired oligomerization and intracellular retention.
  • [Isoform 4]: Lacks channel activity, due to impaired oligomerization and intracellular retention.
  • [Isoform 6]: Lacks channel activity, due to impaired oligomerization and intracellular retention.
  • (Microbial infection) Facilitates hepatitis C virus (HCV) replication, possibly through its action on DDX3X.
  • (Microbial infection) Facilitates Dengue virus (DENV) replication, possibly through its action on DDX3X.
  • (Microbial infection) Facilitates Zika virus (ZIKV) replication, possibly through its action on DDX3X.

Tocris Summary for TRPV4 Gene

  • Vanilloids are a group of compounds, structurally related to capsaicin, thought to exert their actions via vanilloid receptors. The vanilloid receptor family (TRPV) is a member of the transient receptor potential (TRP) superfamily of ion channels, and have six members (TRPV1-6).

Gene Wiki entry for TRPV4 Gene

Additional gene information for TRPV4 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TRPV4 Gene

Genomics for TRPV4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for TRPV4 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH12J109833 Promoter/Enhancer 1.6 EPDnew Ensembl CraniofacialAtlas 261.3 +0.3 307 1.8 ZMYM3 ZIC2 CHD4 YY1 ELF1 RXRA BCL6 HNF4A GLIS1 ZNF24 TRPV4 HSALNG0093916 MIR4497 lnc-GLTP-2 GLTP GPN3 KCTD10 FAM222A
GH12J109820 Enhancer 1.3 FANTOM5 Ensembl ENCODE 18.4 +10.7 10670 4.1 ZNF600 ZIC2 ZBTB10 KLF11 ZNF341 ZNF513 FOXA2 SMAD4 SAP130 ETV4 TRPV4 GLTP Hsa-Mir-95-P2_5p-002 HSALNG0093916 lnc-GLTP-2 FAM222A
GH12J109457 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.5 +370.4 370389 11.2 ZNF600 NCOR1 IKZF1 JUND ZNF592 POLR2A ZIC2 CEBPB ELK1 HES1 KCTD10 MYO1H TRPV4 UBE3B MVK HSALNG0093890 ENSG00000255655
GH12J110036 Enhancer 1.3 Ensembl ENCODE dbSUPER 17.4 -207.2 -207181 7.6 ZNF654 ZNF600 SSRP1 JUND ATF2 CEBPA ATF3 CHD4 YY1 MXD4 HSALNG0093942 piR-30989 TRPV4 GIT2 C12orf76 ANKRD13A IFT81 ANAPC7 GLTP FJ601684-086
GH12J109713 Promoter/Enhancer 2 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.6 +116.1 116127 8.2 BCLAF1 SP1 MYC IKZF1 SIX5 ZNF592 ZMYM3 CEBPA NFIC POLR2A MMAB MVK RNU4-32P TRPV4 GLTP HVCN1 FAM222A lnc-MVK-2 piR-50443-091
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TRPV4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TRPV4

Top Transcription factor binding sites by QIAGEN in the TRPV4 gene promoter:
  • AP-4
  • HSF2
  • Nkx6-1
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • RP58
  • Spz1
  • TBP
  • TFIID

Genomic Locations for TRPV4 Gene

Latest Assembly
chr12:109,783,087-109,833,406
(GRCh38/hg38)
Size:
50,320 bases
Orientation:
Minus strand

Previous Assembly
chr12:110,220,892-110,271,203
(GRCh37/hg19 by Entrez Gene)
Size:
50,312 bases
Orientation:
Minus strand

chr12:110,220,890-110,271,212
(GRCh37/hg19 by Ensembl)
Size:
50,323 bases
Orientation:
Minus strand

Genomic View for TRPV4 Gene

Genes around TRPV4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TRPV4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TRPV4 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for TRPV4 Gene

Proteins for TRPV4 Gene

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  • Protein details for TRPV4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HBA0-TRPV4_HUMAN
    Recommended name:
    Transient receptor potential cation channel subfamily V member 4
    Protein Accession:
    Q9HBA0
    Secondary Accessions:
    • B7ZKQ6
    • Q17R79
    • Q2Y122
    • Q2Y123
    • Q2Y124
    • Q86YZ6
    • Q8NDY7
    • Q8NG64
    • Q96Q92
    • Q96RS7
    • Q9HBC0

    Protein attributes for TRPV4 Gene

    Size:
    871 amino acids
    Molecular mass:
    98281 Da
    Quaternary structure:
    • Homotetramer (Probable). Self-associates in an isoform-specific manner (PubMed:16293632). Isoform 1 and isoform 5 can oligomerize, but isoform 2, isoform 4 and isoform 6 cannot oligomerize (PubMed:16293632). Interacts with calmodulin (PubMed:12724311). Interacts with Map7 and Src family Tyr protein kinases LYN, SRC, FYN, HCK, LCK and YES (By similarity). Interacts with CTNNB1 (By similarity). The TRPV4 and CTNNB1 complex can interact with CDH1 (By similarity). Interacts with PACSIN1, PACSIN2 and PACSIN3 (via SH3 domain) (By similarity). Part of a complex containing MLC1, AQP4, HEPACAM and ATP1B1 (PubMed:22328087). Interacts with ITPR3 (PubMed:18826956). Interacts with AQP5; the interaction is probably indirect and regulates TRPV4 activation by hypotonicity (By similarity). Interacts with ANO1 (By similarity). Interacts (via C-terminus) with PKD2 (via C-terminus) (PubMed:18695040). Interacts with DDX3X; this interaction is decreased when the channel is activated (PubMed:29899501).
    Miscellaneous:
    • [Isoform 2]: Lacks channel activity, due to impaired oligomerization and intracellular retention.
    • [Isoform 4]: Lacks channel activity, due to impaired oligomerization and intracellular retention.
    • [Isoform 5]: Forms active ion channels.
    • [Isoform 6]: Lacks channel activity, due to impaired oligomerization and intracellular retention.

    Three dimensional structures from OCA and Proteopedia for TRPV4 Gene

    Alternative splice isoforms for TRPV4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TRPV4 Gene

Protein Expression for TRPV4 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for TRPV4 Gene

Other Protein References for TRPV4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TRPV4 Gene

Domains & Families for TRPV4 Gene

Gene Families for TRPV4 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Voltage-gated ion channels

Protein Domains for TRPV4 Gene

InterPro:
Blocks:
  • Ankyrin repeat signature

Suggested Antigen Peptide Sequences for TRPV4 Gene

GenScript: Design optimal peptide antigens:
  • Vanilloid receptor-related osmotically-activated channel (TRPV4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9HBA0

UniProtKB/Swiss-Prot:

TRPV4_HUMAN :
  • The ANK repeat region mediates interaction with Ca(2+)-calmodulin and ATP binding (By similarity). The ANK repeat region mediates interaction with phosphatidylinositol-4,5-bisphosphate and related phosphatidylinositides (PubMed:25256292).
  • Belongs to the transient receptor (TC 1.A.4) family. TrpV subfamily. TRPV4 sub-subfamily.
Domain:
  • The ANK repeat region mediates interaction with Ca(2+)-calmodulin and ATP binding (By similarity). The ANK repeat region mediates interaction with phosphatidylinositol-4,5-bisphosphate and related phosphatidylinositides (PubMed:25256292).
Family:
  • Belongs to the transient receptor (TC 1.A.4) family. TrpV subfamily. TRPV4 sub-subfamily.
genes like me logo Genes that share domains with TRPV4: view

Function for TRPV4 Gene

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Molecular function for TRPV4 Gene

UniProtKB/Swiss-Prot Function:
Non-selective calcium permeant cation channel involved in osmotic sensitivity and mechanosensitivity. Activation by exposure to hypotonicity within the physiological range exhibits an outward rectification (PubMed:18826956, PubMed:18695040, PubMed:29899501). Also activated by heat, low pH, citrate and phorbol esters (PubMed:16293632, PubMed:18826956, PubMed:18695040, PubMed:25256292, PubMed:20037586, PubMed:21964574). Increase of intracellular Ca(2+) potentiates currents. Channel activity seems to be regulated by a calmodulin-dependent mechanism with a negative feedback mechanism (PubMed:12724311, PubMed:18826956). Promotes cell-cell junction formation in skin keratinocytes and plays an important role in the formation and/or maintenance of functional intercellular barriers (By similarity). Acts as a regulator of intracellular Ca(2+) in synoviocytes (PubMed:19759329). Plays an obligatory role as a molecular component in the nonselective cation channel activation induced by 4-alpha-phorbol 12,13-didecanoate and hypotonic stimulation in synoviocytes and also regulates production of IL-8 (PubMed:19759329). Together with PKD2, forms mechano- and thermosensitive channels in cilium (PubMed:18695040). Negatively regulates expression of PPARGC1A, UCP1, oxidative metabolism and respiration in adipocytes (By similarity). Regulates expression of chemokines and cytokines related to proinflammatory pathway in adipocytes (By similarity). Together with AQP5, controls regulatory volume decrease in salivary epithelial cells (By similarity). Required for normal development and maintenance of bone and cartilage (PubMed:26249260). In its inactive state, may sequester DDX3X at the plasma membrane. When activated, the interaction between both proteins is affected and DDX3X relocalizes to the nucleus (PubMed:29899501).
UniProtKB/Swiss-Prot Function:
[Isoform 5]: Non-selective calcium permeant cation channel involved in osmotic sensitivity and mechanosensitivity. Activation by exposure to hypotonicity within the physiological range exhibits an outward rectification. Also activated by phorbol esters. Has the same channel activity as isoform 1, and is activated by the same stimuli.
UniProtKB/Swiss-Prot Function:
[Isoform 2]: Lacks channel activity, due to impaired oligomerization and intracellular retention.
UniProtKB/Swiss-Prot Function:
[Isoform 4]: Lacks channel activity, due to impaired oligomerization and intracellular retention.
UniProtKB/Swiss-Prot Function:
[Isoform 6]: Lacks channel activity, due to impaired oligomerization and intracellular retention.
UniProtKB/Swiss-Prot Function:
(Microbial infection) Facilitates hepatitis C virus (HCV) replication, possibly through its action on DDX3X.
UniProtKB/Swiss-Prot Function:
(Microbial infection) Facilitates Dengue virus (DENV) replication, possibly through its action on DDX3X.
UniProtKB/Swiss-Prot Function:
(Microbial infection) Facilitates Zika virus (ZIKV) replication, possibly through its action on DDX3X.
UniProtKB/Swiss-Prot EnzymeRegulation:
Channel activation is inhibited by binding to phosphatidylinositol-4,5-bisphosphate, and to a much lesser degree by phosphatidylinositol-3,4,5-trisphosphate. Not inhibited by phosphatidylinositol-3,4-bisphosphate and phosphatidylinositol-3,5-bisphosphate.

Phenotypes From GWAS Catalog for TRPV4 Gene

Gene Ontology (GO) - Molecular Function for TRPV4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003779 actin binding ISS --
GO:0005034 osmosensor activity IDA --
GO:0005080 protein kinase C binding ISS --
GO:0005216 ion channel activity IBA 21873635
genes like me logo Genes that share ontologies with TRPV4: view
genes like me logo Genes that share phenotypes with TRPV4: view

Human Phenotype Ontology for TRPV4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TRPV4 Gene

MGI Knock Outs for TRPV4:

Animal Models for research

  • Taconic Biosciences Mouse Models for TRPV4

miRNA for TRPV4 Gene

miRTarBase miRNAs that target TRPV4

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TRPV4

Clone products for research

  • Addgene plasmids for TRPV4

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TRPV4 Gene

Localization for TRPV4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TRPV4 Gene

Cell membrane. Apical cell membrane. Multi-pass membrane protein. Cell junction, adherens junction. Cell projection, cilium. Note=Assembly of the putative homotetramer occurs primarily in the endoplasmic reticulum. {ECO:0000269 PubMed:16293632, ECO:0000269 PubMed:20037587, ECO:0000269 PubMed:20037588}.
[Isoform 1]: Cell membrane.
[Isoform 5]: Cell membrane.
[Isoform 2]: Endoplasmic reticulum.
[Isoform 4]: Endoplasmic reticulum.
[Isoform 6]: Endoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TRPV4 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 4
endoplasmic reticulum 4
extracellular 3
nucleus 3
mitochondrion 2
endosome 2
cytosol 2
lysosome 2
peroxisome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for TRPV4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005881 colocalizes_with cytoplasmic microtubule ISS --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA 21873635
GO:0005912 adherens junction ISS --
genes like me logo Genes that share ontologies with TRPV4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TRPV4 Gene

Pathways & Interactions for TRPV4 Gene

genes like me logo Genes that share pathways with TRPV4: view

Pathways by source for TRPV4 Gene

1 Qiagen pathway for TRPV4 Gene
  • Intracellular Calcium Signaling

SIGNOR curated interactions for TRPV4 Gene

Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for TRPV4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IMP --
GO:0002024 diet induced thermogenesis IMP --
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport NAS 11025659
GO:0006874 cellular calcium ion homeostasis IDA 12724311
genes like me logo Genes that share ontologies with TRPV4: view

Drugs & Compounds for TRPV4 Gene

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(27) Drugs for TRPV4 Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Butamben Approved, Withdrawn Pharma Target, inhibitor 0
cannabidiol Approved, Investigational Pharma Target, activator 0
Medical Cannabis Experimental, Investigational Pharma Target 0
Resiniferatoxin Investigational Pharma Potent vanilloid receptor agonist 0
Nabiximols Investigational Pharma Target 61

(7) Additional Compounds for TRPV4 Gene - From: Novoseek, IUPHAR, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
4α-PDH
Activator
bisandrographolide
Activator
(E)-Capsaicin
404-86-4

(5) Tocris Compounds for TRPV4 Gene

Compound Action Cas Number
(E)-Capsaicin Prototypic vanilloid receptor agonist 404-86-4
Capsazepine Vanilloid receptor antagonist; also activator of ENaCdelta 138977-28-3
Olvanil Potent vanilloid receptor agonist 58493-49-5
Resiniferatoxin Potent vanilloid receptor agonist 57444-62-9
STEARDA Endogenous lipid, active in vivo. Enhances effects of endovanilloids at TRPV1 receptors 105955-10-0

(3) ApexBio Compounds for TRPV4 Gene

Compound Action Cas Number
HC-030031 TRPA1 channel blocker,potent and selective 349085-38-7
Optovin 348575-88-2
WS 3 39711-79-0
genes like me logo Genes that share compounds with TRPV4: view

Drug products for research

Transcripts for TRPV4 Gene

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mRNA/cDNA for TRPV4 Gene

5 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TRPV4

Clone products for research

  • Addgene plasmids for TRPV4

Alternative Splicing Database (ASD) splice patterns (SP) for TRPV4 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b
SP1: -
SP2: - - -
SP3:
SP4: -
SP5: -
SP6: - -
SP7: -
SP8: - -

Relevant External Links for TRPV4 Gene

GeneLoc Exon Structure for
TRPV4

Expression for TRPV4 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TRPV4 Gene

mRNA expression in normal human tissues for TRPV4 Gene
mRNA expression by GTEx for TRPV4 GenemRNA expression by BioGPS for TRPV4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TRPV4 Gene

This gene is overexpressed in Minor Salivary Gland (x8.1), Kidney - Cortex (x7.0), and Esophagus - Mucosa (x5.1).

Protein differential expression in normal tissues from HIPED for TRPV4 Gene

This gene is overexpressed in Placenta (66.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TRPV4 Gene



Protein tissue co-expression partners for TRPV4 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TRPV4

SOURCE GeneReport for Unigene cluster for TRPV4 Gene:

Hs.506713

mRNA Expression by UniProt/SwissProt for TRPV4 Gene:

Q9HBA0-TRPV4_HUMAN
Tissue specificity: Found in the synoviocytes from patients with (RA) and without (CTR) rheumatoid arthritis (at protein level).

Evidence on tissue expression from TISSUES for TRPV4 Gene

  • Kidney(4.6)
  • Intestine(4.4)
  • Nervous system(2.8)
  • Muscle(2.6)
  • Heart(2.5)
  • Skin(2.4)
  • Pancreas(2.2)
  • Lung(2.2)
  • Adrenal gland(2.1)
  • Blood(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TRPV4 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cranial nerve
  • epiglottis
  • eye
  • face
  • forehead
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • pharynx
  • skull
  • vocal cord
Thorax:
  • bronchus
  • chest wall
  • clavicle
  • diaphragm
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
Pelvis:
  • pelvis
  • prostate
  • urethra
  • urinary bladder
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with TRPV4: view

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Orthologs for TRPV4 Gene

This gene was present in the common ancestor of animals.

Orthologs for TRPV4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia TRPV4 29 30
  • 99.13 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia TRPV4 29
  • 91.5 (n)
Cow
(Bos Taurus)
 Mammalia TRPV4 29 30
  • 91.5 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Trpv4 29
  • 88.44 (n)
Mouse
(Mus musculus)
 Mammalia Trpv4 29 16 30
  • 88.37 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia -- 30
  • 84 (a)
 OneToMany
-- 30
  • 61 (a)
 OneToMany
Platypus
(Ornithorhynchus anatinus)
 Mammalia TRPV4 30
  • 81 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves TRPV4 29 30
  • 81.31 (n)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia trpv4 29
  • 71.62 (n)
Str.16318 29
Zebrafish
(Danio rerio)
 Actinopterygii trpv4 29 30
  • 70.29 (n)
 OneToOne
wufp52e02 29
Fruit Fly
(Drosophila melanogaster)
 Insecta nan 30
  • 20 (a)
 ManyToMany
iav 30
  • 14 (a)
 ManyToMany
Worm
(Caenorhabditis elegans)
 Secernentea ocr-4 30
  • 20 (a)
 ManyToMany
ocr-3 30
  • 19 (a)
 ManyToMany
ocr-1 30
  • 18 (a)
 ManyToMany
osm-9 30 31
  • 18 (a)
 ManyToMany
ocr-2 30
  • 17 (a)
 ManyToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 30
  • 26 (a)
 ManyToMany
-- 30
  • 20 (a)
 ManyToMany
Species where no ortholog for TRPV4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for TRPV4 Gene

ENSEMBL:
Gene Tree for TRPV4 (if available)
TreeFam:
Gene Tree for TRPV4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TRPV4: view image
Alliance of Genome Resources:
Additional Orthologs for TRPV4

Paralogs for TRPV4 Gene

Paralogs for TRPV4 Gene

(4) SIMAP similar genes for TRPV4 Gene using alignment to 2 proteins:

  • TRPV4_HUMAN
  • F5H6Q4_HUMAN

Pseudogenes.org Pseudogenes for TRPV4 Gene

genes like me logo Genes that share paralogs with TRPV4: view

Variants for TRPV4 Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Polymorphic Variants from UniProtKB/Swiss-Prot for TRPV4 Gene

TRPV4_HUMAN-Q9HBA0
Genetic variations in TRPV4 determine the sodium serum level quantitative trait locus 1 (SSQTL1) [MIM:613508]. In some populations, variant Pro19Ser has been shown to be significantly associated with hyponatremia defined as serum sodium concentration below or equal to 135 mEq/L.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TRPV4 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
1001030 Uncertain Significance: Charcot-Marie-Tooth disease axonal type 2C 109,783,687(-) G/T
NM_021625.5(TRPV4):c.2550C>A (p.Asn850Lys) 		MISSENSE
1003370 Uncertain Significance: Charcot-Marie-Tooth disease axonal type 2C 109,814,594(-) C/A
NM_021625.5(TRPV4):c.203G>T (p.Arg68Leu) 		MISSENSE
1005456 Uncertain Significance: Charcot-Marie-Tooth disease axonal type 2C 109,800,707(-) TCCA/T
NM_021625.5(TRPV4):c.761_763del (p.Val254del) 		INFRAME_DELETION,INTRON
1006277 Uncertain Significance: Charcot-Marie-Tooth disease axonal type 2C 109,794,342(-) G/A
NM_021625.5(TRPV4):c.1478C>T (p.Pro493Leu) 		MISSENSE
1008532 Uncertain Significance: Charcot-Marie-Tooth disease axonal type 2C 109,794,441(-) C/T
NM_021625.5(TRPV4):c.1379G>A (p.Arg460Gln) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TRPV4 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for TRPV4 Gene

Variant ID Type Subtype PubMed ID
nsv1110896 OTHER inversion 24896259

Variation tolerance for TRPV4 Gene

Residual Variation Intolerance Score: 12.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.37; 76.95% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TRPV4 Gene

Human Gene Mutation Database (HGMD)
TRPV4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TRPV4
Leiden Open Variation Database (LOVD)
TRPV4

SNP Genotyping and Copy Number Assays for research

Disorders for TRPV4 Gene

MalaCards: The human disease database

(69) MalaCards diseases for TRPV4 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search TRPV4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TRPV4_HUMAN
  • Brachyolmia 3 (BCYM3) [MIM:113500]: A form of brachyolmia, a clinically and genetically heterogeneous skeletal dysplasia primarily affecting the spine and characterized by a short trunk, short stature, and platyspondyly. BCYM3 is an autosomal dominant form with severe scoliosis with or without kyphosis, and flattened irregular cervical vertebrae. {ECO:0000269 PubMed:18587396}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252]: A form of spondylometaphyseal dysplasia, a group of short stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. It is characterized by postnatal dwarfism, significant scoliosis and mild metaphyseal abnormalities in the pelvis. The vertebrae exhibit platyspondyly and overfaced pedicles. {ECO:0000269 PubMed:19232556, ECO:0000269 PubMed:20577006, ECO:0000269 PubMed:22702953}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Metatropic dysplasia (MTD) [MIM:156530]: A severe spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints and usually severe kyphoscoliosis. Radiologic features include severe platyspondyly, severe metaphyseal enlargement and shortening of long bones. {ECO:0000269 PubMed:19232556, ECO:0000269 PubMed:20425821, ECO:0000269 PubMed:20577006, ECO:0000269 PubMed:22702953, ECO:0000269 PubMed:26249260, ECO:0000269 Ref.6}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Neuronopathy, distal hereditary motor, 8 (HMN8) [MIM:600175]: A clinically variable, neuromuscular disorder characterized by congenital lower motor neuron disorder restricted to the lower part of the body. Clinical manifestations include non-progressive muscular atrophy, thigh muscle atrophy, weak thigh adductors, weak knee and foot extensors, minimal jaw muscle and neck flexor weakness, flexion contractures of knees and pes equinovarus. Tendon reflexes are normal. {ECO:0000269 PubMed:20037588, ECO:0000269 PubMed:22526352, ECO:0000269 PubMed:22702953}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Charcot-Marie-Tooth disease 2C (CMT2C) [MIM:606071]: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. {ECO:0000269 PubMed:20037586, ECO:0000269 PubMed:20037587, ECO:0000269 PubMed:20037588, ECO:0000269 PubMed:21115951, ECO:0000269 PubMed:21288981, ECO:0000269 PubMed:22702953, ECO:0000269 PubMed:25256292}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Scapuloperoneal spinal muscular atrophy (SPSMA) [MIM:181405]: A clinically variable neuromuscular disorder characterized by neurogenic scapuloperoneal amyotrophy, laryngeal palsy, congenital absence of muscles, progressive scapuloperoneal atrophy and progressive distal weakness and amyotrophy. {ECO:0000269 PubMed:20037587, ECO:0000269 PubMed:22702953}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Spondyloepiphyseal dysplasia Maroteaux type (SEDM) [MIM:184095]: A clinically variable spondyloepiphyseal dysplasia with manifestations limited to the musculoskeletal system. Clinical features include short stature, brachydactyly, platyspondyly, short and stubby hands and feet, epiphyseal hypoplasia of the large joints, and iliac hypoplasia. Intelligence is normal. {ECO:0000269 PubMed:20503319, ECO:0000269 PubMed:22702953}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Parastremmatic dwarfism (PSTD) [MIM:168400]: A bone dysplasia characterized by severe dwarfism, kyphoscoliosis, distortion and bowing of the extremities, and contractures of the large joints. Radiographically, the disease is characterized by a combination of decreased bone density, bowing of the long bones, platyspondyly and striking irregularities of endochondral ossification with areas of calcific stippling and streaking in radiolucent epiphyses, metaphyses and apophyses. {ECO:0000269 PubMed:20503319}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Digital arthropathy-brachydactyly, familial (FDAB) [MIM:606835]: A disorder characterized by irregularities in the proximal articular surfaces of the distal interphalangeal joints of the hand. Individuals appear normal at birth, with no clinical or radiographic evidence of a developmental skeletal dysplasia. The earliest changes appear during the first decade of life. By adulthood, all interphalangeal, metacarpophalangeal, and metatarsophalangeal joints are affected by a deforming, painful osteoarthritis. The remainder of the skeleton is clinically and radiographically unaffected. {ECO:0000269 PubMed:21964574}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Avascular necrosis of the femoral head, primary 2 (ANFH2) [MIM:617383]: A disease characterized by mechanical failure of the subchondral bone, and degeneration of the hip joint. It usually leads to destruction of the hip joint in the third to fifth decade of life. The clinical manifestations, such as pain on exertion, a limping gait, and a discrepancy in leg length, cause considerable disability. {ECO:0000269 PubMed:27330106}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for TRPV4

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with TRPV4: view

No data available for Genatlas for TRPV4 Gene

Publications for TRPV4 Gene

  1. Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. (PMID: 20037587) Deng HX … Siddique T (Nature genetics 2010) 2 3 4 22 72
  2. Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations. (PMID: 20503319) Nishimura G … Superti-Furga A (American journal of medical genetics. Part A 2010) 3 4 22 72
  3. Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. (PMID: 20037588) Auer-Grumbach M … Guelly C (Nature genetics 2010) 3 4 22 72
  4. Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia. (PMID: 20425821) Camacho N … Cohn DH (American journal of medical genetics. Part A 2010) 3 4 22 72
  5. Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. (PMID: 20037586) Landouré G … Sumner CJ (Nature genetics 2010) 3 4 22 72

ExternalLinks

View latest publications for TRPV4 gene in Mastermind

Products for TRPV4 Gene

  • Addgene plasmids for TRPV4

Sources for TRPV4 Gene