TRPV4 (transient receptor potential cation channel subfamily V member 4)

2009-03-01  

Identity

HGNC
TRPV4
LOCATION
12q24.11
LOCUSID
59341
ALIAS
BCYM3,CMT2C,HMSN2C,OTRPC4,SMAL,SPSMA,SSQTL1,TRP12,VRL2,VROAC

Other Information

Locus ID:

NCBI: 59341
MIM: 605427
HGNC: 18083
Ensembl: ENSG00000111199

Variants:

dbSNP: 59341
ClinVar: 59341
TCGA: ENSG00000111199
COSMIC: TRPV4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000111199ENST00000261740Q9HBA0
ENSG00000111199ENST00000418703Q9HBA0
ENSG00000111199ENST00000536838Q9HBA0
ENSG00000111199ENST00000537083Q9HBA0
ENSG00000111199ENST00000538125F5H6Q4
ENSG00000111199ENST00000541794Q9HBA0
ENSG00000111199ENST00000544971Q9HBA0

Expression (GTEx)

0
5
10
15
20
25
30
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Inflammatory mediator regulation of TRP channelsKEGGhsa04750
Inflammatory mediator regulation of TRP channelsKEGGko04750
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Stimuli-sensing channelsREACTOMER-HSA-2672351
TRP channelsREACTOMER-HSA-3295583
Fluid shear stress and atherosclerosisKEGGko05418
Fluid shear stress and atherosclerosisKEGGhsa05418

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
118279752002Activation of TRPV4 channels (hVRL-2/mTRP12) by phorbol derivatives.177
123547592002Heat-evoked activation of TRPV4 channels in a HEK293 cell expression system and in native mouse aorta endothelial cells.169
193595992009TRPV4 channels mediate cyclic strain-induced endothelial cell reorientation through integrin-to-integrin signaling.119
120938122002Molecular determinants of permeation through the cation channel TRPV4.90
212628392011An aquaporin-4/transient receptor potential vanilloid 4 (AQP4/TRPV4) complex is essential for cell-volume control in astrocytes.84
183433792008Selective role for TRPV4 ion channels in visceral sensory pathways.82
200375862010Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.80
233066562013The puzzle of TRPV4 channelopathies.78
127243112003Ca2+-dependent potentiation of the nonselective cation channel TRPV4 is mediated by a C-terminal calmodulin binding site.77
157531262005TRPV4 channel is involved in the coupling of fluid viscosity changes to epithelial ciliary activity.69

Citation

Dessen P

TRPV4 (transient receptor potential cation channel subfamily V member 4)

Atlas Genet Cytogenet Oncol Haematol. 2009-03-01

Online version: http://atlasgeneticsoncology.org/gene/50819/trpv4