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

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 162514
Gene name Transient receptor potential cation channel subfamily V member 3
Gene symbol TRPV3
Synonyms (NCBI Gene)
FNEPPK2OLMSOLMS1VRL3
Chromosome 17
Chromosome location 17p13.2
Summary 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.
6
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.
13
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
34
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (34)
GO ID Ontology Definition Evidence Reference
GO:0005216 Function Monoatomic ion channel activity IEA
GO:0005261 Function Monoatomic cation channel activity IEA
GO:0005262 Function Calcium channel activity IBA
GO:0005262 Function Calcium channel activity IDA 12077604, 12077606, 26818531, 38691614
GO:0005262 Function Calcium channel activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
607066 18084 ENSG00000167723
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Isolated focal non-epidermolytic palmoplantar keratoderma Likely pathogenic; Pathogenic rs786205868, rs786205869, rs1057517884 RCV001198158
RCV000172846
RCV001542608
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Olmsted syndrome 1 Likely pathogenic; Pathogenic rs786205868, rs199473704, rs199473705, rs1057517884 RCV000172845
RCV000023611
RCV000023612
RCV000023613
RCV000989679
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (8)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CONGENITAL PALMOPLANTAR AND PERIORAL KERATODERMA OF OLMSTED — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GESTATIONAL DIABETES — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPERPLASIA — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (75)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alopecia Alopecia BEFREE 17706768, 31152005
★★★★★
★☆☆☆☆
Found in Text Mining only
Alopecia Alopecia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Anhidrosis Anhidrosis HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial fibrillation Pubtator 28839241 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Behcet Syndrome Behcet disease Pubtator 33124559 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 27023518
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 35389815 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 35558077 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 28081185 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Cardioembolic stroke Cardioembolic Stroke BEFREE 27604134
★★★★★
★☆☆☆☆
Found in Text Mining only