TRPV4 (transient receptor potential cation channel subfamily V member 4) - Rat Genome Database

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Gene: TRPV4 (transient receptor potential cation channel subfamily V member 4) Homo sapiens
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Symbol: TRPV4
Name: transient receptor potential cation channel subfamily V member 4
RGD ID: 1604803
HGNC Page HGNC:18083
Description: Enables several functions, including calmodulin binding activity; identical protein binding activity; and stretch-activated, monoatomic cation-selective, calcium channel activity. Involved in several processes, including blood vessel endothelial cell delamination; calcium ion transport; and cellular hypotonic response. Located in plasma membrane. Implicated in Charcot-Marie-Tooth disease axonal type 2C; motor neuron disease (multiple); osteochondrodysplasia (multiple); and osteonecrosis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BCYM3; CMT2C; HMSN2C; osm-9-like TRP channel 4; OSM9-like transient receptor potential channel 4; osmosensitive transient receptor potential channel 4; OTRPC4; SMAL; SPSMA; SSQTL1; transient receptor potential cation channel, subfamily V, member 4; transient receptor potential protein 12; TRP12; vanilloid receptor-like channel 2; vanilloid receptor-related osmotically activated channel; VR-OAC; VRL-2; VRL2; VROAC
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3812109,783,087 - 109,833,398 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl12109,783,087 - 109,833,406 (-)EnsemblGRCh38hg38GRCh38
GRCh3712110,220,892 - 110,271,203 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3612108,705,277 - 108,755,595 (-)NCBINCBI36Build 36hg18NCBI36
Celera12109,845,179 - 109,895,568 (-)NCBICelera
Cytogenetic Map12q24.11NCBI
HuRef12107,237,035 - 107,287,147 (-)NCBIHuRef
CHM1_112110,188,702 - 110,239,020 (-)NCBICHM1_1
T2T-CHM13v2.012109,758,559 - 109,808,862 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
2-aminoadipic 2-oxoadipic aciduria  (IAGP)
amyotrophic lateral sclerosis type 5  (IAGP)
Auditory Neuropathy  (IAGP)
autosomal dominant distal hereditary motor neuronopathy  (IAGP)
autosomal dominant distal hereditary motor neuronopathy 14  (IAGP)
autosomal dominant distal hereditary motor neuronopathy 8  (EXP,IAGP)
autosomal dominant nonsyndromic deafness 25  (ISS)
bone disease  (EXP)
brachyolmia  (IAGP)
Brachyolmia Type 2  (IAGP)
Brachyolmia Type 3  (EXP,IAGP)
cerebral creatine deficiency syndrome 1  (IAGP)
Charcot-Marie-Tooth disease  (EXP,IAGP)
Charcot-Marie-Tooth disease axonal type 2C  (EXP,IAGP)
Charcot-Marie-Tooth disease type 1  (IAGP)
Charcot-Marie-Tooth disease type 2  (IAGP)
Charcot-Marie-Tooth disease type 4  (IAGP)
chronic obstructive pulmonary disease  (EXP)
clubfoot  (IAGP)
connective tissue disease  (IAGP)
Digital Arthropathy-Brachydactyly, Familial  (EXP,IAGP)
Femur Head Necrosis  (EXP,IAGP)
genetic disease  (IAGP)
high grade glioma  (EXP)
Hyperalgesia  (EXP)
Hyponatremia  (EXP,IAGP)
metatropic dysplasia  (EXP,IAGP)
myoepithelioma  (IAGP)
neuromuscular disease  (IAGP)
osteoarthritis  (EXP)
osteochondrodysplasia  (EXP,IAGP)
parastremmatic dwarfism  (EXP,IAGP)
pulmonary hypertension  (ISO)
scapuloperoneal spinal muscular atrophy  (IAGP)
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal  (IAGP)
spinal muscular atrophy  (EXP,IAGP)
spinocerebellar ataxia with axonal neuropathy 2  (IAGP)
spondyloepimetaphyseal dysplasia, Strudwick type  (IAGP)
spondyloepiphyseal dysplasia Maroteaux type  (IAGP)
spondylometaphyseal dysplasia  (IAGP)
spondylometaphyseal dysplasia Kozlowski type  (EXP,IAGP)
Urination Disorders  (EXP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dichloroethane  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
3',5'-cyclic AMP  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3-methylcholanthrene  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxynon-2-enal  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
acrylamide  (ISO)
aldehydo-D-glucosamine  (ISO)
all-trans-retinoic acid  (EXP,ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
arachidonic acid  (EXP)
arsenous acid  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
beta-D-glucosamine  (ISO)
bisphenol A  (EXP,ISO)
calcium atom  (EXP,ISO)
calcium(0)  (EXP,ISO)
Cannabichromene  (ISO)
cannabidiol  (EXP)
Cannabidivarin  (ISO)
capsaicin  (ISO)
choline  (ISO)
chrysene  (ISO)
Cuprizon  (ISO)
cyclosporin A  (EXP)
dexamethasone  (EXP)
dextran sulfate  (ISO)
diarsenic trioxide  (ISO)
dibenz[a,h]anthracene  (ISO)
diuron  (ISO)
ethanol  (ISO)
fipronil  (ISO)
flavonoids  (ISO)
folic acid  (ISO)
fulvestrant  (EXP)
furan  (ISO)
gadolinium atom  (ISO)
gentamycin  (ISO)
glycidol  (ISO)
icosanoid  (EXP)
Indeno[1,2,3-cd]pyrene  (ISO)
indometacin  (EXP)
ionomycin  (ISO)
ketamine  (ISO)
L-methionine  (ISO)
lead diacetate  (ISO)
leflunomide  (EXP)
methimazole  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
prostaglandin E2  (ISO)
ruthenium red  (ISO)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (ISO)
serotonin  (ISO)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
sodium atom  (EXP)
sodium chloride  (ISO)
streptozocin  (ISO)
sulfadimethoxine  (ISO)
tetraphene  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
toluene 2,4-diisocyanate  (ISO)
triptonide  (ISO)
troglitazone  (ISO)
vincristine  (ISO)
zalcitabine  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
actin cytoskeleton organization  (IEA,ISS)
actin filament organization  (IBA,IEA,ISS)
ATP export  (ISO)
ATP transport  (ISO)
blood vessel endothelial cell delamination  (IMP)
calcium ion import  (IEA,ISS)
calcium ion import across plasma membrane  (IBA)
calcium ion import into cytosol  (IDA)
calcium ion transmembrane transport  (IEA,IMP,TAS)
calcium ion transport  (IDA,NAS)
cartilage development involved in endochondral bone morphogenesis  (IMP)
cartilage homeostasis  (ISO)
cell volume homeostasis  (TAS)
cell-cell junction assembly  (IEA,ISS)
cellular hypotonic response  (IEA,IMP,ISS)
cellular hypotonic salinity response  (IEA)
cellular response to heat  (IEA,ISS)
cellular response to osmotic stress  (IEA,ISS)
cortical microtubule organization  (IEA,ISS)
diet induced thermogenesis  (IEA)
energy homeostasis  (IEA)
glucose homeostasis  (IEA)
hyperosmotic salinity response  (IEA,ISO)
hypotonic response  (IEA,ISO)
intracellular calcium ion homeostasis  (IDA,IEA)
microtubule polymerization  (IEA,ISS)
monoatomic cation transmembrane transport  (IEA)
monoatomic ion transmembrane transport  (IEA)
monoatomic ion transport  (IEA)
multicellular organismal-level water homeostasis  (IEA,IMP)
negative regulation of brown fat cell differentiation  (IEA)
negative regulation of cell volume  (ISO)
negative regulation of neuron projection development  (IEA,ISS)
negative regulation of transcription by RNA polymerase II  (IEA)
osmosensory signaling pathway  (IBA,IEA,ISO,ISS,TAS)
positive regulation of chemokine (C-C motif) ligand 5 production  (IEA)
positive regulation of chemokine (C-X-C motif) ligand 1 production  (IEA)
positive regulation of cytosolic calcium ion concentration  (IDA,IEA,ISO)
positive regulation of ERK1 and ERK2 cascade  (IEA)
positive regulation of gene expression  (IEA)
positive regulation of inflammatory response  (IEA)
positive regulation of interleukin-6 production  (IEA)
positive regulation of intracellular protein transport  (ISO)
positive regulation of JNK cascade  (IEA)
positive regulation of macrophage chemotaxis  (IEA)
positive regulation of macrophage inflammatory protein 1 alpha production  (IEA)
positive regulation of membrane hyperpolarization  (ISO)
positive regulation of microtubule depolymerization  (IEA,ISS)
positive regulation of monocyte chemotactic protein-1 production  (IEA)
positive regulation of P-type sodium:potassium-exchanging transporter activity  (ISO)
positive regulation of prostaglandin secretion  (ISO)
positive regulation of protein phosphorylation  (ISO)
positive regulation of protein tyrosine kinase activity  (ISO)
positive regulation of striated muscle contraction  (IEA,ISO)
positive regulation of vascular permeability  (IEA,IMP)
regulation of aerobic respiration  (IEA)
regulation of blood pressure  (ISO)
regulation of heart rate  (ISO)
regulation of p38MAPK cascade  (ISO)
regulation of response to osmotic stress  (IEA,ISO)
relaxation of vascular associated smooth muscle  (ISO)
response to fatty acid  (ISO)
response to hypoxia  (IEA,ISO)
response to insulin  (IEA)
response to lipopolysaccharide  (ISO)
response to mechanical stimulus  (TAS)
response to osmotic stress  (IEA,ISO)
transmembrane transport  (IEA)
vasopressin secretion  (IEA,ISO)

Cellular Component
adherens junction  (IEA,ISS)
anchoring junction  (IEA)
apical plasma membrane  (IEA)
cell surface  (IEA,ISO)
cilium  (IBA,IEA)
cortical actin cytoskeleton  (IEA,ISS)
cytoplasmic microtubule  (IEA,ISS)
endoplasmic reticulum  (IEA)
filopodium  (IEA,ISS)
focal adhesion  (IEA,ISS)
growth cone  (IEA,ISS)
lamellipodium  (IEA,ISS)
membrane  (IEA,NAS)
plasma membrane  (IBA,IDA,IEA,ISS,TAS)
ruffle membrane  (IEA,ISS)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abducens palsy  (IAGP)
Abnormal acetabulum morphology  (IAGP)
Abnormal cortical bone morphology  (IAGP)
Abnormal enchondral ossification  (IAGP)
Abnormal femoral neck/head morphology  (IAGP)
Abnormal foot morphology  (IAGP)
Abnormal form of the vertebral bodies  (IAGP)
Abnormal humeral metaphysis morphology  (IAGP)
Abnormal ilium morphology  (IAGP)
Abnormal intervertebral disk morphology  (IAGP)
Abnormal metaphyseal vascular invasion  (IAGP)
Abnormal metaphysis morphology  (IAGP)
Abnormal rib cage morphology  (IAGP)
Abnormal rib morphology  (IAGP)
Abnormality of the radioulnar joints  (IAGP)
Abnormality of the vertebral column  (IAGP)
Absent epiphyses of the phalanges of the hand  (IAGP)
Absent primary metaphyseal spongiosa  (IAGP)
Amyoplasia  (IAGP)
Anisospondyly  (IAGP)
Aplasia/Hypoplasia of the lungs  (IAGP)
Areflexia  (IAGP)
Arthrogryposis multiplex congenita  (IAGP)
Arthropathy  (IAGP)
Atlantoaxial instability  (IAGP)
Autosomal dominant inheritance  (IAGP)
Avascular necrosis of the capital femoral epiphysis  (IAGP)
Barrel-shaped chest  (IAGP)
Bowing of the long bones  (IAGP)
Brachydactyly  (IAGP)
Brachytelomesophalangy  (IAGP)
Broad-based gait  (IAGP)
Cachexia  (IAGP)
Camptodactyly of finger  (IAGP)
Carpal bone hypoplasia  (IAGP)
Cataract  (IAGP)
Caudal appendage  (IAGP)
Cervical platyspondyly  (IAGP)
Childhood onset  (IAGP)
Childhood-onset short-trunk short stature  (IAGP)
Clavicular pseudarthrosis  (IAGP)
Cleft palate  (IAGP)
Clinodactyly  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Coarse metaphyseal trabecularization  (IAGP)
Cone-shaped epiphyses of the phalanges of the hand  (IAGP)
Cone-shaped epiphysis  (IAGP)
Congenital onset  (IAGP)
Coronal cleft vertebrae  (IAGP)
Coxa vara  (IAGP)
Crescent-shaped iliac bone  (IAGP)
Cupped ribs  (IAGP)
Decreased distal sensory nerve action potential  (IAGP)
Decreased fetal movement  (IAGP)
Delayed epiphyseal ossification  (IAGP)
Delayed ossification of carpal bones  (IAGP)
Delayed skeletal maturation  (IAGP)
Depressed nasal bridge  (IAGP)
Diaphragmatic weakness  (IAGP)
Disproportionate short-limb short stature  (IAGP)
Disproportionate short-trunk short stature  (IAGP)
Distal amyotrophy  (IAGP)
Distal lower limb amyotrophy  (IAGP)
Distal lower limb muscle weakness  (IAGP)
Distal muscle weakness  (IAGP)
Distal sensory impairment  (IAGP)
Distal upper limb amyotrophy  (IAGP)
Distal upper limb muscle weakness  (IAGP)
Down-sloping shoulders  (IAGP)
Dumbbell-shaped femur  (IAGP)
Dumbbell-shaped metaphyses  (IAGP)
Elbow flexion contracture  (IAGP)
Elevated circulating creatine kinase concentration  (IAGP)
EMG abnormality  (IAGP)
Enlarged joints  (IAGP)
Epiphyseal dysplasia  (IAGP)
Facial palsy  (IAGP)
Fetal akinesia sequence  (IAGP)
Flared femoral metaphysis  (IAGP)
Flared humeral metaphysis  (IAGP)
Flared iliac wing  (IAGP)
Flared metaphysis  (IAGP)
Flaring of rib cage  (IAGP)
Flat acetabular roof  (IAGP)
Flattened femoral epiphysis  (IAGP)
Flattened femoral head  (IAGP)
Flexion contracture  (IAGP)
Foot dorsiflexor weakness  (IAGP)
Gait disturbance  (IAGP)
Generalized osteoporosis  (IAGP)
Genu valgum  (IAGP)
Genu varum  (IAGP)
Gowers sign  (IAGP)
Groin pain  (IAGP)
Growth delay  (IAGP)
Halberd-shaped pelvis  (IAGP)
Hammertoe  (IAGP)
Hand muscle atrophy  (IAGP)
High forehead  (IAGP)
Hip contracture  (IAGP)
Hip dysplasia  (IAGP)
Hip osteoarthritis  (IAGP)
Hip pain  (IAGP)
Hoarse voice  (IAGP)
Hydrocephalus  (IAGP)
Hyperlordosis  (IAGP)
Hypermetropia  (IAGP)
Hyperplasia of the femoral trochanters  (IAGP)
Hypoplasia of the odontoid process  (IAGP)
Hypoplastic cervical vertebrae  (IAGP)
Hyporeflexia  (IAGP)
Hypotonia  (IAGP)
Impairment of activities of daily living  (IAGP)
Increased intervertebral space  (IAGP)
Increased vertebral height  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Intercostal muscle weakness  (IAGP)
Irregular acetabular roof  (IAGP)
Irregular capital femoral epiphysis  (IAGP)
Irregular, rachitic-like metaphyses  (IAGP)
Joint stiffness  (IAGP)
Juvenile onset  (IAGP)
Knee flexion contracture  (IAGP)
Kyphoscoliosis  (IAGP)
Kyphosis  (IAGP)
Limb joint contracture  (IAGP)
Limited hip movement  (IAGP)
Long coccyx  (IAGP)
Long thorax  (IAGP)
Lower limb amyotrophy  (IAGP)
Lower limb asymmetry  (IAGP)
Lumbar hyperlordosis  (IAGP)
Metaphyseal irregularity  (IAGP)
Metaphyseal widening  (IAGP)
Metatarsus adductus  (IAGP)
Micromelia  (IAGP)
Mild short stature  (IAGP)
Motor delay  (IAGP)
Motor polyneuropathy  (IAGP)
Mucopolysacchariduria  (IAGP)
Muscle fiber splitting  (IAGP)
Narrow chest  (IAGP)
Narrow greater sciatic notch  (IAGP)
Neonatal onset  (IAGP)
Nonprogressive  (IAGP)
Nonprogressive muscular atrophy  (IAGP)
Obstructive sleep apnea  (IAGP)
Oculomotor nerve palsy  (IAGP)
Opacification of the corneal stroma  (IAGP)
Osteoarthritis of the small joints of the hand  (IAGP)
Pectus carinatum  (IAGP)
Peripheral axonal neuropathy  (IAGP)
Peroneal muscle atrophy  (IAGP)
Peroneal muscle weakness  (IAGP)
Pes cavus  (IAGP)
Pes planus  (IAGP)
Platyspondyly  (IAGP)
Posteriorly rotated ears  (IAGP)
Premature osteoarthritis  (IAGP)
Progressive distal muscle weakness  (IAGP)
Progressive distal muscular atrophy  (IAGP)
Proximal femoral metaphyseal irregularity  (IAGP)
Proximal lower limb amyotrophy  (IAGP)
Proximal muscle weakness in upper limbs  (IAGP)
Proximal upper limb amyotrophy  (IAGP)
Radial bowing  (IAGP)
Radial deviation of finger  (IAGP)
Relatively short spine  (IAGP)
Respiratory failure  (IAGP)
Respiratory insufficiency  (IAGP)
Scapular muscle atrophy  (IAGP)
Scapular winging  (IAGP)
Scapuloperoneal amyotrophy  (IAGP)
Scoliosis  (IAGP)
Sensorineural hearing impairment  (IAGP)
Sensory neuropathy  (IAGP)
Severe short stature  (IAGP)
Shield chest  (IAGP)
Short distal phalanx of finger  (IAGP)
Short distal phalanx of toe  (IAGP)
Short femoral neck  (IAGP)
Short finger  (IAGP)
Short greater sciatic notch  (IAGP)
Short metatarsal  (IAGP)
Short middle phalanx of finger  (IAGP)
Short middle phalanx of toe  (IAGP)
Short neck  (IAGP)
Short palm  (IAGP)
Short ribs  (IAGP)
Short stature  (IAGP)
Short stepped shuffling gait  (IAGP)
Short thorax  (IAGP)
Short toe  (IAGP)
Short tubular bones of the hand  (IAGP)
Shortening of all distal phalanges of the toes  (IAGP)
Shortening of all middle phalanges of the toes  (IAGP)
Shoulder girdle muscle atrophy  (IAGP)
Skeletal dysplasia  (IAGP)
Small hand  (IAGP)
Small joint hypermobilty  (IAGP)
Spinal cord compression  (IAGP)
Spinal muscular atrophy  (IAGP)
Spondyloepiphyseal dysplasia  (IAGP)
Spondylometaphyseal dysplasia  (IAGP)
Squared iliac bones  (IAGP)
Stridor  (IAGP)
Talipes equinovarus  (IAGP)
Thoracic kyphosis  (IAGP)
Tip-toe gait  (IAGP)
Torticollis  (IAGP)
Typified by incomplete penetrance  (IAGP)
Urinary incontinence  (IAGP)
Urinary urgency  (IAGP)
Vertebral wedging  (IAGP)
Vocal cord paresis  (IAGP)
Waddling gait  (IAGP)
Young adult onset  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Implication of the ryanodine receptor in TRPV4-induced calcium response in pulmonary arterial smooth muscle cells from normoxic and chronically hypoxic rats. Dahan D, etal., Am J Physiol Lung Cell Mol Physiol. 2012 Nov 1;303(9):L824-33. doi: 10.1152/ajplung.00244.2011. Epub 2012 Sep 7.
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:10463355   PMID:10717675   PMID:11025659   PMID:11081638   PMID:11094154   PMID:11160995   PMID:11827975   PMID:12077606   PMID:12093812   PMID:12354759   PMID:12477932   PMID:12538589  
PMID:12692122   PMID:12724311   PMID:14517216   PMID:15075247   PMID:15489228   PMID:15489334   PMID:15692563   PMID:15753126   PMID:16293632   PMID:16344560   PMID:16368742   PMID:16382100  
PMID:16403833   PMID:16537379   PMID:16627472   PMID:17110928   PMID:17217058   PMID:17233610   PMID:17374521   PMID:17521436   PMID:17620599   PMID:17932042   PMID:18174177   PMID:18284852  
PMID:18305162   PMID:18307101   PMID:18343379   PMID:18355916   PMID:18378772   PMID:18458941   PMID:18552442   PMID:18587396   PMID:18682435   PMID:18701070   PMID:18787888   PMID:18845910  
PMID:18983665   PMID:19027987   PMID:19033444   PMID:19066426   PMID:19232556   PMID:19279160   PMID:19359599   PMID:19661060   PMID:19666518   PMID:19701771   PMID:19749483   PMID:20037586  
PMID:20037587   PMID:20037588   PMID:20043876   PMID:20190511   PMID:20301462   PMID:20301532   PMID:20392266   PMID:20399209   PMID:20425821   PMID:20460441   PMID:20503319   PMID:20577006  
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