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Aliases for TRPV4 Gene

Aliases for TRPV4 Gene

  • Transient Receptor Potential Cation Channel, Subfamily V, Member 4 2 3
  • 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
  • OTRPC4 3 4
  • TRP12 3 4
  • VROAC 3 4
  • VRL2 3 4
  • 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
  • VR-OAC 4
  • BCYM3 3
  • CMT2C 3
  • SPSMA 3
  • TrpV4 4
  • VRL-2 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 metatropic dysplasia and spondylometaphyseal dysplasia, kozlowski type. Among its related pathways are CREB Pathway and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include protein kinase binding and microtubule binding. An important paralog of this gene is ENSG00000262304.

UniProtKB/Swiss-Prot 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). Also activated by heat, low pH, citrate and phorbol esters (PubMed:18826956, PubMed:18695040). 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).

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

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TRPV4 Gene

Genomics for TRPV4 Gene

Regulatory Elements for TRPV4 Gene

Genomic Location for TRPV4 Gene

Chromosome:
12
Start:
109,783,085 bp from pter
End:
109,833,407 bp from pter
Size:
50,323 bases
Orientation:
Minus strand

Genomic View for TRPV4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TRPV4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TRPV4 Gene

Proteins for TRPV4 Gene

  • 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 a isoform-specific manner (PubMed:16293632). Isoforms 1/A and 5/D but not isoform 2/B, 4/C and 6/E can 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).

    Three dimensional structures from OCA and Proteopedia for TRPV4 Gene

    Alternative splice isoforms for TRPV4 Gene

neXtProt entry for TRPV4 Gene

Proteomics data for TRPV4 Gene at MOPED

Post-translational modifications for TRPV4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for TRPV4 Gene

Domains & Families for TRPV4 Gene

Suggested Antigen Peptide Sequences for TRPV4 Gene

Graphical View of Domain Structure for InterPro Entry

Q9HBA0

UniProtKB/Swiss-Prot:

TRPV4_HUMAN :
  • Belongs to the transient receptor (TC 1.A.4) family. TrpV subfamily. TRPV4 sub-subfamily.
  • Contains 3 ANK repeats.
Family:
  • Belongs to the transient receptor (TC 1.A.4) family. TrpV subfamily. TRPV4 sub-subfamily.
Similarity:
  • Contains 3 ANK repeats.
genes like me logo Genes that share domains with TRPV4: view

Function for TRPV4 Gene

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). Also activated by heat, low pH, citrate and phorbol esters (PubMed:18826956, PubMed:18695040). 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).

Gene Ontology (GO) - Molecular Function for TRPV4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding ISS --
GO:0005034 osmosensor activity IEA --
GO:0005080 protein kinase C binding ISS --
GO:0005216 ion channel activity --
GO:0005261 cation channel activity IDA 12724311
genes like me logo Genes that share ontologies with TRPV4: view
genes like me logo Genes that share phenotypes with TRPV4: view

Animal Models for TRPV4 Gene

MGI Knock Outs for TRPV4:

Animal Model Products

miRNA for TRPV4 Gene

miRTarBase miRNAs that target 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

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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TRPV4 Gene COMPARTMENTS Subcellular localization image for TRPV4 gene
Compartment Confidence
plasma membrane 5
cytosol 4
cytoskeleton 3
extracellular 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for TRPV4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IEA --
GO:0005881 colocalizes_with cytoplasmic microtubule ISS --
GO:0005886 plasma membrane TAS --
GO:0005912 adherens junction ISS --
GO:0005925 focal adhesion ISS --
genes like me logo Genes that share ontologies with TRPV4: view

Pathways & Interactions for TRPV4 Gene

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

Pathways by source for TRPV4 Gene

PCR Array Products

Gene Ontology (GO) - Biological Process for TRPV4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport --
GO:0006816 calcium ion transport NAS 11025659
GO:0006874 cellular calcium ion homeostasis IDA 12724311
GO:0006884 cell volume homeostasis TAS 12724311
GO:0006970 response to osmotic stress --
genes like me logo Genes that share ontologies with TRPV4: view

No data available for SIGNOR curated interactions for TRPV4 Gene

Drugs & Compounds for TRPV4 Gene

(21) Drugs for TRPV4 Gene - From: NovoSeek, IUPHAR, DGIdb, Tocris, ApexBio, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Nitric Oxide Approved Pharma 540
arachidonic acid Experimental Nutra Potentiation, Activator 27
ruthenium red Pharma Channel blocker Non-selective Ca2+ channel blocker (N- and P-type) 0
Gd<sup>3+</sup> Pharma Channel blocker 0
GSK1016790A Pharma Activator 0

(10) Additional Compounds for TRPV4 Gene - From: IUPHAR, NovoSeek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
4alpha-PDD
Activator
4alpha-PDH
Activator
bisandrographolide
Activator
AM 404 (in Tocrisolve 100)
198022-70-7
Anandamide (in Tocrisolve 100)
94421-68-8
genes like me logo Genes that share compounds with TRPV4: view

Drug Products

Transcripts for TRPV4 Gene

Unigene Clusters for TRPV4 Gene

Transient receptor potential cation channel, subfamily V, member 4:
Representative Sequences:

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
ECgene alternative splicing isoforms for
TRPV4

Expression for TRPV4 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for TRPV4 Gene



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).
genes like me logo Genes that share expression patterns with TRPV4: view

Protein tissue co-expression partners for TRPV4 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for TRPV4 Gene

This gene was present in the common ancestor of animals.

Orthologs for TRPV4 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TRPV4 35
  • 91.5 (n)
  • 96.79 (a)
TRPV4 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TRPV4 35
  • 91.5 (n)
  • 97.47 (a)
mouse
(Mus musculus)
Mammalia Trpv4 35
  • 88.37 (n)
  • 95.29 (a)
Trpv4 16
Trpv4 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TRPV4 35
  • 99.13 (n)
  • 99.13 (a)
TRPV4 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Trpv4 35
  • 88.44 (n)
  • 94.83 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 61 (a)
OneToMany
-- 36
  • 84 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia TRPV4 36
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves TRPV4 35
  • 81.31 (n)
  • 85.6 (a)
TRPV4 36
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.16318 35
trpv4 35
  • 71.62 (n)
  • 79 (a)
zebrafish
(Danio rerio)
Actinopterygii trpv4 35
  • 70.29 (n)
  • 74.66 (a)
wufp52e02 35
trpv4 36
  • 70 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta iav 36
  • 14 (a)
ManyToMany
nan 36
  • 20 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea osm-9 37
  • 26 (a)
ocr-1 36
  • 18 (a)
ManyToMany
ocr-2 36
  • 17 (a)
ManyToMany
ocr-3 36
  • 19 (a)
ManyToMany
ocr-4 36
  • 20 (a)
ManyToMany
osm-9 36
  • 18 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 26 (a)
ManyToMany
-- 36
  • 20 (a)
ManyToMany
Species with no ortholog for TRPV4:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for TRPV4 Gene

Paralogs for TRPV4 Gene

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

Pseudogenes.org Pseudogenes for TRPV4 Gene

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

Variants for TRPV4 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for TRPV4 Gene

Q9HBA0-TRPV4_HUMAN
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 from dbSNP and Humsavar for TRPV4 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs1344553 -- 109,800,410(+) ATGGT(A/G)CTCCC intron-variant
rs1344554 Benign, Benign 109,800,676(+) TGGGC(A/G)TGGAC intron-variant, reference, synonymous-codon
rs1558882 -- 109,805,275(+) GAAGG(C/G)GAGAG intron-variant
rs1861808 -- 109,818,226(-) GAGGC(C/T)TTCCC intron-variant
rs1861809 -- 109,807,783(-) CAGCC(C/T)AGCTT intron-variant

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)

Relevant External Links for TRPV4 Gene

HapMap Linkage Disequilibrium report
TRPV4
Human Gene Mutation Database (HGMD)
TRPV4

No data available for Structural Variations from Database of Genomic Variants (DGV) for TRPV4 Gene

Disorders for TRPV4 Gene

MalaCards: The human disease database

(42) MalaCards diseases for TRPV4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
metatropic dysplasia
  • metatropic dwarfism
spondylometaphyseal dysplasia, kozlowski type
  • spondylometaphyseal dysplasia kozlowski type
scapuloperoneal spinal muscular atrophy
  • amyotrophy, neurogenic scapuloperoneal, new england type
charcot-marie-tooth disease type 2c
  • hereditary motor and sensory neuropathy, type iic
autosomal dominant congenital benign spinal muscular atrophy
  • congenital benign spinal muscular atrophy with contractures
- elite association
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 mutations 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. Nerve conduction velocities are normal or slightly reduced. {ECO:0000269 PubMed:20037586, ECO:0000269 PubMed:20037587, ECO:0000269 PubMed:20037588, ECO:0000269 PubMed:21115951, ECO:0000269 PubMed:21288981}. Note=The disease is caused by mutations 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 mutations affecting the gene represented in this entry.
  • Distal spinal muscular atrophy, congenital non-progressive (DSMAC) [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}. Note=The disease is caused by mutations 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 Ref.6}. Note=The disease is caused by mutations 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 mutations 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}. Note=The disease is caused by mutations 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}. Note=The disease is caused by mutations 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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TRPV4

Genetic Association Database (GAD)
TRPV4
Human Genome Epidemiology (HuGE) Navigator
TRPV4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TRPV4
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 H.X. … Siddique T. (Nat. Genet. 2010) 2 23 67
  2. OTRPC4, a nonselective cation channel that confers sensitivity to extracellular osmolarity. (PMID: 11025659) Strotmann R. … Plant T.D. (Nat. Cell Biol. 2000) 2 23 67
  3. Vanilloid receptor-related osmotically activated channel (VR-OAC), a candidate vertebrate osmoreceptor. (PMID: 11081638) Liedtke W.B. … Heller S. (Cell 2000) 2 23 67
  4. Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. (PMID: 20037586) Landoure G. … Sumner C.J. (Nat. Genet. 2010) 23 67
  5. Identification of a Protein Kinase C-dependent phosphorylation site involved in sensitization of TRPV4 channel. (PMID: 20043876) Peng H. … Wegierski T. (Biochem. Biophys. Res. Commun. 2010) 23 67

Products for TRPV4 Gene

Sources for TRPV4 Gene

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