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Aliases for TRPV4 Gene

Aliases for TRPV4 Gene

  • Transient Receptor Potential Cation Channel, Subfamily V, Member 4 2 3
  • VROAC 3 4 6
  • 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
  • HMSN2C 3 6
  • SSQTL1 3 6
  • OTRPC4 3 4
  • CMT2C 3 6
  • SPSMA 3 6
  • TRP12 3 4
  • SMAL 3 6
  • VRL2 3 4
  • Transient Receptor Potential Cation Channel Subfamily V Member 4 3
  • 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
  • VR-OAC 4
  • BCYM3 3
  • TrpV4 4
  • VRL-2 4

External Ids for TRPV4 Gene

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 charcot-marie-tooth disease type 2c and hereditary motor and sensory neuropathy, type iic. Among its related pathways are CREB Pathway and Ion channel transport. GO annotations related to this gene include actin binding and calmodulin binding. An important paralog of this gene is TRPV2.

UniProtKB/Swiss-Prot for TRPV4 Gene

  • Non-selective calcium permeant cation channel probably involved in osmotic sensitivity and mechanosensitivity. Activation by exposure to hypotonicity within the physiological range exhibits an outward rectification. Also activated by low pH, citrate and phorbol esters. Increase of intracellular Ca(2+) potentiates currents. Channel activity seems to be regulated by a calmodulin-dependent mechanism with a negative feedback mechanism. Promotes cell-cell junction formation in skin keratinocytes and plays an important role in the formation and/or maintenance of functional intercellular barriers. Acts as a regulator of intracellular Ca(2+) in synoviocytes. 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.

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 subgroup of the transient receptor potential (TRP) superfamily of ion channels, and six members (TRPV1-6) have so far been identified. The six vanilloid receptor members have been divided into four groups on the basis of structure and function: TRPV1/2, TRPV3, TRPV4 and TRPV5/6. TRPV1-4 are thermosensitive, non-selective cation channels that exist as tetrameric complexes. They are activated by a range of stimuli including heat, protons, lipids and changes in osmolarity or pressure. TRPV5-6 are calcium selective channels that are involved in the absorption and reabsorption of calcium across intestinal and renal epithelia. It has been proposed that cannabinoids are endogenous ligands for vanilloid receptors. Furthermore, adenosine has been shown to be an endogenous TRPV1 ligand and TRPV4 is activated by anandamide and arachidonic acid.

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

Genomic Location for TRPV4 Gene

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

Regulatory Elements 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. Isoforms 1/A and 5/D but not isoform 2/B, 4/C and 6/E can oligomerize. Interacts with calmodulin. Interacts with Map7 and Src family Tyr protein kinases LYN, SRC, FYN, HCK, LCK and YES. Interacts with CTNNB1. The TRPV4 and CTNNB1 complex can interact with CDH1. Interacts with PACSIN1, PACSIN2 and PACSIN3 (via SH3 domain) (By similarity). Part of a complex containing MLC1, AQP4, HEPACAM and ATP1B1.

    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

  • Phosphorylation results in enhancement of its channel function.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TRPV4 Gene

Domains for TRPV4 Gene

Gene Families for TRPV4 Gene

HGNC:
  • ANKRD :Ankyrin repeat domain containing
  • TRP :Voltage-gated ion channels / Transient receptor potential cation channels
IUPHAR :

UniProtKB/Swiss-Prot:

TRPV4_HUMAN
Family:
  • Belongs to the transient receptor (TC 1.A.4) family. TrpV subfamily. TRPV4 sub-subfamily.:
    • Q9HBA0
Similarity:
  • Contains 3 ANK repeats.:
    • Q9HBA0
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 probably involved in osmotic sensitivity and mechanosensitivity. Activation by exposure to hypotonicity within the physiological range exhibits an outward rectification. Also activated by low pH, citrate and phorbol esters. Increase of intracellular Ca(2+) potentiates currents. Channel activity seems to be regulated by a calmodulin-dependent mechanism with a negative feedback mechanism. Promotes cell-cell junction formation in skin keratinocytes and plays an important role in the formation and/or maintenance of functional intercellular barriers. Acts as a regulator of intracellular Ca(2+) in synoviocytes. 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.

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:

miRNA for TRPV4 Gene

miRTarBase miRNAs that target TRPV4

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

Localization for TRPV4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TRPV4 Gene

Cell membrane; Multi-pass membrane protein. Cell junction, adherens junction. 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
cytoskeleton 3
extracellular 2
endoplasmic reticulum 1
nucleus 1

Gene Ontology (GO) - Cellular Components for TRPV4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005881 colocalizes_with cytoplasmic microtubule ISS --
GO:0005886 plasma membrane TAS --
GO:0005912 adherens junction ISS --
GO:0005925 focal adhesion ISS --
GO:0005929 cilium IEA --
genes like me logo Genes that share ontologies with TRPV4: view

Pathways for TRPV4 Gene

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

Pathways by source for TRPV4 Gene

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

Compounds for TRPV4 Gene

(5) Tocris Compounds for TRPV4 Gene

Compound Action Cas Number
5-Iodoresiniferatoxin Potent, silent TRPV1 antagonist [535974-91-5]
AMG 9810 Potent and selective, competitive antagonist of TRPV1 [545395-94-6]
Anandamide Endogenous CB receptor agonist [94421-68-8]
Capsazepine Vanilloid receptor antagonist. Also activator of ENaCdelta [138977-28-3]
HC 067047 Potent and selective TRPV4 antagonist [883031-03-6]

(1) HMDB Compounds for TRPV4 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2

(11) IUPHAR Ligand for TRPV4 Gene

Ligand Type Action Affinity Pubmed IDs
GSK1016790A Activator None 8.7
HC067047 Channel blocker None 7.8
RN1747 Activator None 6.1
RN1734 Channel blocker None 5.6
Gd3+ Channel blocker None
4alpha-PDD Activator None
La3+ Channel blocker None
4alpha-PDH Activator None
ruthenium red Channel blocker None
bisandrographolide Activator None
phorbol 12-myristate 13-acetate Activator None

(11) Novoseek inferred chemical compound relationships for TRPV4 Gene

Compound -log(P) Hits PubMed IDs
4alpha-phorbol 12,13-didecanoate 92.7 19
ruthenium 79.6 6
capsaicin 67 3
resiniferatoxin 61.3 1
arachidonic acid 56.6 5
genes like me logo Genes that share compounds with TRPV4: view

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 (8.1), Kidney - Cortex (7.0), and Esophagus - Mucosa (5.1).

Integrated Proteomics: protein expression 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 expressions with TRPV4: view

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 36
  • 99.13 (n)
  • 99.13 (a)
TRPV4 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TRPV4 36
  • 91.5 (n)
  • 96.79 (a)
TRPV4 37
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TRPV4 36
  • 91.5 (n)
  • 97.47 (a)
mouse
(Mus musculus)
Mammalia Trpv4 36
  • 88.37 (n)
  • 95.29 (a)
Trpv4 16
Trpv4 37
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 61 (a)
OneToMany
-- 37
  • 84 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia TRPV4 37
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Trpv4 36
  • 88.44 (n)
  • 94.83 (a)
chicken
(Gallus gallus)
Aves TRPV4 36
  • 81.31 (n)
  • 85.6 (a)
TRPV4 37
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.16318 36
trpv4 36
  • 71.62 (n)
  • 79 (a)
zebrafish
(Danio rerio)
Actinopterygii trpv4 36
  • 70.29 (n)
  • 74.66 (a)
trpv4 37
  • 70 (a)
OneToOne
wufp52e02 36
fruit fly
(Drosophila melanogaster)
Insecta iav 37
  • 14 (a)
ManyToMany
nan 37
  • 20 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ocr-1 37
  • 18 (a)
ManyToMany
ocr-2 37
  • 17 (a)
ManyToMany
ocr-3 37
  • 19 (a)
ManyToMany
ocr-4 37
  • 20 (a)
ManyToMany
osm-9 37
  • 18 (a)
ManyToMany
osm-9 38
  • 26 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 26 (a)
ManyToMany
-- 37
  • 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

Selected 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 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

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

(10) OMIM Diseases for TRPV4 Gene (605427)

UniProtKB/Swiss-Prot

TRPV4_HUMAN
  • Brachyolmia 3 (BRAC3) [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 without significant epiphyseal or metaphyseal changes in the long bones. BRAC3 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.

(4) University of Copenhagen DISEASES for TRPV4 Gene

(3) Novoseek inferred disease relationships for TRPV4 Gene

Disease -log(P) Hits PubMed IDs
cmt2c 87.4 2
charcot-marie-tooth disease 32.9 1
inflammation 0 1

Relevant External Links for TRPV4

Genetic Association Database (GAD)
TRPV4
Human Genome Epidemiology (HuGE) Navigator
TRPV4
genes like me logo Genes that share disorders with TRPV4: view

Publications for TRPV4 Gene

  1. OTRPC4, a nonselective cation channel that confers sensitivity to extracellular osmolarity. (PMID: 11025659) Strotmann R. … Plant T.D. (Nat. Cell Biol. 2000) 2 3 4 23
  2. Vanilloid receptor-related osmotically activated channel (VR-OAC), a candidate vertebrate osmoreceptor. (PMID: 11081638) Liedtke W.B. … Heller S. (Cell 2000) 2 3 4 23
  3. A loss-of-function nonsynonymous polymorphism in the osmoregulatory TRPV4 gene is associated with human hyponatremia. (PMID: 19666518) Tian W. … Cohen D.M. (Proc. Natl. Acad. Sci. U.S.A. 2009) 3 4 23 49
  4. 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 3 4 23
  5. Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. (PMID: 20037588) Auer-Grumbach M. … Guelly C. (Nat. Genet. 2010) 3 4 23

Products for TRPV4 Gene

Sources for TRPV4 Gene

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