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

    Gene ID: 162514, updated on 28-Oct-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
    mouse all
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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 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. The significant expression of TRPV3 in nasal polyps of eosinophilic chronic rhinosinusitis. Tokunaga T, et al. Allergol Int, 2017 Oct. PMID 28462829
    2. TRPV3: a 'more than skinny' channel. Nilius B, et al. Exp Dermatol, 2013 Jul. PMID 23800054
    3. Transient receptor potential vanilloid-3 (TRPV3) channel induces dermal fibrosis via the TRPV3/TSLP/Smad2/3 pathways in dermal fibroblasts. Um JY, et al. J Dermatol Sci, 2020 Feb. PMID 31959383
    4. 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
    5. 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

    See all (79) 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)

    Genotypes

    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 
    Process Evidence Code Pubs
    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 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
    		  
    Component Evidence Code Pubs
    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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