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TRPV3 transient receptor potential cation channel subfamily V member 3 [ Homo sapiens (human) ]

Gene ID: 162514, updated on 26-Nov-2024

Summary

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Official Symbol
TRPV3provided by HGNC
Official Full Name
transient receptor potential cation channel subfamily V member 3provided by HGNC
Primary source
HGNC:HGNC:18084
See related
Ensembl:ENSG00000167723 MIM:607066; AllianceGenome:HGNC:18084
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
OLMS; VRL3; OLMS1; FNEPPK2
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 terminate in the skin, and are activated at distinct physiological temperatures. This channel is activated at temperatures between 22 and 40 degrees C. This gene lies in close proximity to another family member gene on chromosome 17, and the two encoded proteins are thought to associate with each other to form heteromeric channels. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
Expression
Biased expression in skin (RPKM 5.2), small intestine (RPKM 3.6) and 11 other tissues See more
Orthologs
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Genomic context

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See TRPV3 in Genome Data Viewer
Location:
17p13.2
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (3510502..3557812, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (3399413..3446868, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (3413796..3461106, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 1 subfamily E member 2 Neighboring gene spermatogenesis associated 22 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:3386038-3386583 Neighboring gene aspartoacylase Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:3413293-3413831 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:3427509-3428008 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:3430899-3431819 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8012 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:3457379-3457880 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8013 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr17:3461306-3462122 and GRCh37_chr17:3462123-3462937 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11509 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11510 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:3466934-3467732 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:3478292-3479491 Neighboring gene transient receptor potential cation channel subfamily V member 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:3497604-3498104 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:3512595-3513096 Neighboring gene pterin-4 alpha-carbinolamine dehydratase 2 pseudogene Neighboring gene sedoheptulokinase

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Unitary TRPV3 channel Ca2+ influx events elicit endothelium-dependent dilation of cerebral parenchymal arterioles. Pires PW, et al. Am J Physiol Heart Circ Physiol, 2015 Dec 15. PMID 26453324, Free PMC Article
  2. The novel high-frequency variant of TRPV3 p.A628T in East Asians showing faster sensitization in response to chemical agonists. Choi SW, et al. Pflugers Arch, 2019 Oct. PMID 31612282
  3. Cytoplasmic Inter-Subunit Interface Controls Use-Dependence of Thermal Activation of TRPV3 Channel. Macikova L, et al. Int J Mol Sci, 2019 Aug 16. PMID 31426314, Free PMC Article
  4. Regulatory switch at the cytoplasmic interface controls TRPV channel gating. Zubcevic L, et al. Elife, 2019 May 9. PMID 31070581, Free PMC Article
  5. Conformational ensemble of the human TRPV3 ion channel. Zubcevic L, et al. Nat Commun, 2018 Nov 14. PMID 30429472, Free PMC Article

See all (81) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Aging is associated with impaired triggering of TRPV3-mediated cutaneous vasodilation: a crucial process for local heat exposure.
    Title: Aging is associated with impaired triggering of TRPV3-mediated cutaneous vasodilation: a crucial process for local heat exposure.
  2. TRPV3 promotes sebocyte inflammation via transcriptional modulating TLR2 in acne.
    Title: TRPV3 promotes sebocyte inflammation via transcriptional modulating TLR2 in acne.
  3. Hsa_circ_0072765 knockdown inhibits proliferation, activation and migration in transforming growth factor-beta (TGF-beta)-induced hepatic stellate cells (HSCs) by the miR-197-3p/TRPV3 axis.
    Title: Hsa_circ_0072765 knockdown inhibits proliferation, activation and migration in transforming growth factor-beta (TGF-β)-induced hepatic stellate cells (HSCs) by the miR-197-3p/TRPV3 axis.
  4. FRET analysis of the temperature-induced structural changes in human TRPV3.
    Title: FRET analysis of the temperature-induced structural changes in human TRPV3.
  5. TRPV3 Ion Channel: From Gene to Pharmacology.
    Title: TRPV3 Ion Channel: From Gene to Pharmacology.
  6. Novel Insights into the Role of Keratinocytes-Expressed TRPV3 in the Skin.
    Title: Novel Insights into the Role of Keratinocytes-Expressed TRPV3 in the Skin.
  7. TRPV3-ANO1 interaction positively regulates wound healing in keratinocytes.
    Title: TRPV3-ANO1 interaction positively regulates wound healing in keratinocytes.
  8. TRPV3 and Itch: The Role of TRPV3 in Chronic Pruritus according to Clinical and Experimental Evidence.
    Title: TRPV3 and Itch: The Role of TRPV3 in Chronic Pruritus according to Clinical and Experimental Evidence.
  9. TRPV3 promotes the angiogenesis through HIF-1alpha-VEGF signaling pathway in A549 cells.
    Title: TRPV3 promotes the angiogenesis through HIF-1α-VEGF signaling pathway in A549 cells.
  10. Olmsted syndrome causing point mutants of TRPV3 (G568C and G568D) show defects in intracellular Ca(2+)-mobilization and induce lysosomal defects.
    Title: Olmsted syndrome causing point mutants of TRPV3 (G568C and G568D) show defects in intracellular Ca(2+)-mobilization and induce lysosomal defects.
Submit: New GeneRIF Correction See all GeneRIFs (69)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Isolated focal non-epidermolytic palmoplantar keratoderma
MedGen: C4225339 OMIM: 616400 GeneReviews: Not available
Compare labs
Olmsted syndrome 1
MedGen: C5542829 OMIM: 614594 GeneReviews: Not available
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables calcium channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables calcium channel activity TAS
Traceable Author Statement
more info
  
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables sodium channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in actin filament organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in calcium ion import across plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in calcium ion transmembrane transport TAS
Traceable Author Statement
more info
  
involved_in negative regulation of hair cycle IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in osmosensory signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of calcium ion import IEA
Inferred from Electronic Annotation
more info
  
involved_in response to temperature stimulus IEA
Inferred from Electronic Annotation
more info
  
involved_in sodium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in cilium IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in lysosome IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  
part_of receptor complex IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
transient receptor potential cation channel subfamily V member 3
Names
VRL-3
vanilloid receptor-like 3
vanilloid receptor-related osmotically activated channel protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_032144.2 RefSeqGene

    Range
    5184..52494
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001258205.2 → NP_001245134.1  transient receptor potential cation channel subfamily V member 3 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1).
    Source sequence(s)
    AC025125, AC027796, BX537539, EU295940
    Consensus CDS
    CCDS58500.1
    UniProtKB/TrEMBL
    Q2M3L1
    Related
    ENSP00000301365.4, ENST00000301365.8
    Conserved Domains (4) summary
    cd00204
    Location:213 → 361
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam00520
    Location:517 → 689
    Ion_trans; Ion transport protein
    pfam12796
    Location:266 → 366
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:214 → 245
    ANK; ANK repeat [structural motif]

  2. NM_145068.4 → NP_659505.1  transient receptor potential cation channel subfamily V member 3 isoform 2

    See identical proteins and their annotated locations for NP_659505.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.
    Source sequence(s)
    AC025125, AC027796, AF514998, BX537539
    Consensus CDS
    CCDS11029.1
    UniProtKB/Swiss-Prot
    Q8NDW7, Q8NET8, Q8NET9, Q8NFH2
    UniProtKB/TrEMBL
    Q2M3L1
    Related
    ENSP00000461518.2, ENST00000576742.6
    Conserved Domains (4) summary
    cd00204
    Location:213 → 361
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam00520
    Location:517 → 689
    Ion_trans; Ion transport protein
    pfam12796
    Location:266 → 366
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:214 → 245
    ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    3510502..3557812 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    3399413..3446868 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8NET8.2 GenPept UniProtKB/Swiss-Prot:Q8NET8

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