TRPV3 (transient receptor potential cation channel subfamily V member 3)

2016-10-01  

Identity

HGNC
LOCATION
17p13.2
LOCUSID
ALIAS
FNEPPK2,OLMS,OLMS1,VRL3

Other Information

Locus ID:

NCBI: 162514
MIM: 607066
HGNC: 18084
Ensembl: ENSG00000167723

Variants:

dbSNP: 162514
ClinVar: 162514
TCGA: ENSG00000167723
COSMIC: TRPV3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000167723ENST00000301365Q8NET8
ENSG00000167723ENST00000381913J3KPJ6
ENSG00000167723ENST00000571139I3L0L5
ENSG00000167723ENST00000572519Q8NET8
ENSG00000167723ENST00000573539I3L0L5
ENSG00000167723ENST00000576742Q8NET8
ENSG00000167723ENST00000577016I3L402
ENSG00000167723ENST00000616411A0A087X170

Expression (GTEx)

0
5
10
15
20

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

References

Pubmed IDYearTitleCitations
120776042002TRPV3 is a calcium-permeable temperature-sensitive cation channel.237
120776062002TRPV3 is a temperature-sensitive vanilloid receptor-like protein.209
224050882012Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome.77
175214362007Differential expression of the capsaicin receptor TRPV1 and related novel receptors TRPV3, TRPV4 and TRPM8 in normal human tissues and changes in traumatic and diabetic neuropathy.68
198644322010Differential regulation of TRPV1, TRPV3, and TRPV4 sensitivity through a conserved binding site on the ankyrin repeat domain.61
181785572008Calcium plays a central role in the sensitization of TRPV3 channel to repetitive stimulations.44
203953022010Farnesyl pyrophosphate is a novel pain-producing molecule via specific activation of TRPV3.43
213210702011Voltage- and temperature-dependent activation of TRPV3 channels is potentiated by receptor-mediated PI(4,5)P2 hydrolysis.35
220069882011Hysteresis of gating underlines sensitization of TRPV3 channels.28
187878882008Functional expression of transient receptor potential vanilloid-related channels in chronically hypoxic human pulmonary arterial smooth muscle cells.25

Citation

Dessen P

TRPV3 (transient receptor potential cation channel subfamily V member 3)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56156/trpv3