transient receptor potential cation channel subfamily V member 4
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Diagnostic Grade (Green)
Arthrogryposis
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownHereditary neuropathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownHereditary neuropathy or pain disorder
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLimb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownPaediatric motor neuronopathies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownSkeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted+6 more panels — install the extension to see the full list inline on any page.
metatropic dysplasia
spondylometaphyseal dysplasia, Kozlowski type
Charcot-Marie-Tooth disease axonal type 2C
Autosomal dominant Charcot-Marie-Tooth disease type 2C
neuronopathy, distal hereditary motor, autosomal dominant 8
familial digital arthropathy-brachydactyly
autosomal dominant brachyolmia
spondyloepimetaphyseal dysplasia, Maroteaux type
parastremmatic dwarfism
hereditary disease
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Transient receptor potential cation channel subfamily V member 4
Non-selective calcium permeant cation channel involved in osmotic sensitivity and mechanosensitivity (PubMed:16293632, PubMed:18695040, PubMed:18826956, PubMed:22526352, PubMed:23136043, PubMed:29899501). Activation by exposure to hypotonicity within the physiological range exhibits an outward rectification (PubMed:18695040, PubMed:18826956, PubMed:29899501). Also activated by heat, low pH, citrate and phorbol esters (PubMed:16293632, PubMed:18695040, PubMed:18826956, PubMed:20037586, PubMed:21964574, PubMed:25256292). 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 pro-inflammatory 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). In neurons of the central nervous system, could play a role in triggering voluntary water intake in response to increased sodium concentration in body fluid (By similarity)
TRPV4 · Q9HBA0
Mean pLDDT
71.6/ 100
Confident
871 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
