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

Summary

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

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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
TRPV3 promotes sebocyte inflammation via transcriptional modulating TLR2 in acne.
Title: TRPV3 promotes sebocyte inflammation via transcriptional modulating TLR2 in acne.
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.
FRET analysis of the temperature-induced structural changes in human TRPV3.
Title: FRET analysis of the temperature-induced structural changes in human TRPV3.
TRPV3 Ion Channel: From Gene to Pharmacology.
Title: TRPV3 Ion Channel: From Gene to Pharmacology.
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.
TRPV3-ANO1 interaction positively regulates wound healing in keratinocytes.
Title: TRPV3-ANO1 interaction positively regulates wound healing in keratinocytes.
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.
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.
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

GDB:434012 (e-PCR)
- UniSTS:157204

D7S2067E (e-PCR)
- UniSTS:151120

GDB:314949 (e-PCR)
- UniSTS:156503

TRPV3__5144 (e-PCR)
- UniSTS:466531

D10S16 (e-PCR)
- UniSTS:155756

D1S1423 (e-PCR)
- UniSTS:149619

G54306 (e-PCR)
- UniSTS:116109

GDB:313783 (e-PCR)
- UniSTS:13512

GDB:631813 (e-PCR)
- UniSTS:158430

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

NG_032144.2 RefSeqGene

Range

5184..52494

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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]
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]