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

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
162514
Gene name Gene Name - the full gene name approved by the HGNC.
Transient receptor potential cation channel subfamily V member 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TRPV3
Synonyms (NCBI Gene) Gene synonyms aliases
FNEPPK2, OLMS, OLMS1, VRL3
Disease Acronyms (UniProt) Disease acronyms from UniProt database
FNEPPK2, OLMS1
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17p13.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene product belongs to a family of nonselective cation channels that function in a variety of processes, including temperature sensation and vasoregulation. The thermosensitive members of this family are expressed in subsets of sensory neurons that
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(6)
SNP ID Visualize variation Clinical significance Consequence
rs199473704 C>A,T Pathogenic Missense variant, coding sequence variant
rs199473705 A>C Pathogenic Missense variant, coding sequence variant
rs786205868 G>A Pathogenic Missense variant, coding sequence variant
rs786205869 T>G Pathogenic Missense variant, coding sequence variant
rs1057517884 C>A,T Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(13)
miRTarBase ID miRNA Experiments Reference
MIRT022738 hsa-miR-124-3p Microarray 18668037
MIRT1457860 hsa-miR-3183 CLIP-seq
MIRT1457861 hsa-miR-3663-3p CLIP-seq
MIRT1457862 hsa-miR-4268 CLIP-seq
MIRT1457863 hsa-miR-4287 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(10)
GO ID Ontology Definition Evidence Reference
GO:0005216 Function Ion channel activity IBA 21873635
GO:0005262 Function Calcium channel activity IBA 21873635
GO:0005886 Component Plasma membrane TAS
GO:0005887 Component Integral component of plasma membrane IBA 21873635
GO:0009408 Process Response to heat IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
607066 18084 ENSG00000167723
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q8NET8
Protein name Transient receptor potential cation channel subfamily V member 3 (TrpV3) (Vanilloid receptor-like 3) (VRL-3)
Protein function Non-selective calcium permeant cation channel (PubMed:12077604, PubMed:12077606, PubMed:26818531, PubMed:37648856, PubMed:38691614). It is activated by innocuous (warm) temperatures and shows an increased response at noxious temperatures greater
PDB 6H9J , 6HA6 , 6MHO , 6MHS , 6MHV , 6MHW , 6MHX , 6OT2 , 6OT5 , 6UW4 , 6UW6 , 6UW8 , 6UW9 , 7QQN , 7XJ0 , 7XJ1 , 7XJ2 , 7XJ3 , 8GKA , 8GKG , 8V6K , 8V6L , 8V6M , 8V6N , 8V6O
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12796 Ank_2 123 → 245 Ankyrin repeats (3 copies) Repeat
PF00023 Ank 261 → 294 Ankyrin repeat Repeat
PF00520 Ion_trans 438 → 689 Ion transport protein Family
Tissue specificity TISSUE SPECIFICITY: Abundantly expressed in CNS. Widely expressed at low levels. Detected in dorsal root ganglion (at protein level). Expressed in the keratinocyte layers of the outer root sheath and, to lesser extent, to the matrix of the hair follicles
Sequence 
MKAHPKEMVPLMGKRVAAPSGNPAILPEKRPAEITPTKKSAHFFLEIEGFEPNPTVAKTS
PPVFSKPMDSNIRQCISGNCDDMDSPQSPQDDVTETPSNPNSPSAQLAKEEQRRKKRRLK
KRIFAAVSEGCVEELVELLVELQELCRRRHDEDVPDFLMHKLTASDTGKTCLMKALLNIN
PNTKEIVRILLAFAEENDILGRFINAEYTEEAYEGQTALNIAIERRQGDIAALLIAAGAD
VNAHAKGAFFNPKYQHEGFYFGETPLALAACTNQPEIVQLLMEHEQTDITSRDSRGNNIL
HALVTVAEDFKTQNDFVKRMYDMILLRSGNWELETTRNNDGLTPLQLAAKMGKAEILKYI
LSREIKEKRLRSLSRKFTDWAYGPVSSSLYDLTNVDTTTDNSVLEITVYNTNIDNRHEML
TLEPLHTLLHMKWKKFAKHMFFLSFCFYFFYNITLTLVSYYRPREEEAIPHPLALTHKMG
WLQLLGRMFVLIWAMCISVKEGIAIFLLRPSDLQSILSDAWFHFVFFIQAVLVILSVFLY
LFAYKEYLACLVLAMALGWANMLYYTRGFQSMGMYSVMIQKVILHDVLKFLFVYIVFLLG
FGVALASLIEKCPKDNKDCSSYGSFSDAVLELFKLTIGLGDLNIQQNSKYPILFLFLLIT
YVILTFVLLLNMLIALMGETVENVSKESERIWRLQRARTILEFEKMLPEWLRSRFRMGEL
CKVAEDDFRLCLRINEVKWTEWKTHVSFLNEDPGPVRRTDFNKIQDSSRNNSKTTLNAFE
EVEEFPETSV
Sequence length 790
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Inflammatory mediator regulation of TRP channels   TRP channels
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (7)
Causal
Disease term Disease name dbSNP ID References
Hearing loss Sensorineural Hearing Loss (disorder) rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Hypotrichosis Hypotrichosis rs121434306, rs121434307, rs121434308, rs121434309, rs1325804776, rs267606775, rs786200875, rs1568062215, rs267606776, rs1462595806, rs267606777, rs267606659, rs2147483647, rs559648418, rs121917819
View all (18 more)
Isolated focal non-epidermolytic palmoplantar keratoderma Isolated focal non-epidermolytic palmoplantar keratoderma rs786205868, rs786205869, rs1057517884
Melanoma melanoma rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340
View all (64 more)
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Olmsted Syndrome Olmsted syndrome 1 GenCC
Isolated Focal Non-Epidermolytic Palmoplantar Keratoderma isolated focal non-epidermolytic palmoplantar keratoderma GenCC
Show/Hide Text Mining Associations (39)
Associations from Text Mining
Disease Name Relationship Type References
Alopecia Associate 28964718
Atrial Fibrillation Associate 28839241
Behcet Syndrome Associate 33124559
Carcinoma Non Small Cell Lung Associate 27023518
Carcinoma Renal Cell Associate 35389815
Carcinoma Renal Cell Stimulate 35558077
Carcinoma Squamous Cell Associate 28081185
Cicatrix Associate 33113783
Colitis Ulcerative Associate 32455137, 36445533
Congenital Hyperinsulinism Associate 23869231