TRPV3 - transient receptor potential cation channel subfamily V member 3 Gene

Also Known as OLMS; VRL3; OLMS1; FNEPPK2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 162514

About TRPV3

Cytogenetic location: 17p13.2 Genomic coordinates (GRCh38): 17:3,510,502-3,557,812 (from NCBI)

This gene has 11 transcripts (splice variants), 140 orthologues, 5 paralogues and is associated with 5 phenotypes. Biased expression in skin (RPKM 5.2), small intestine (RPKM 3.6) and 11 other tissues.

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]

TRPV3 Products (2)

mRNA	Protein	Name
NM_001258205.2	NP_001245134.1	transient receptor potential cation channel subfamily V member 3 isoform 1
NM_145068.4	NP_659505.1	transient receptor potential cation channel subfamily V member 3 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables calcium channel activity	IDA IDA: Inferred from direct assay	12077604	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	32572252	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	26818531	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of hair cycle	IMP IMP: Inferred from mutant phenotype	21593771	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	26818531	GOA
located in lysosome	IDA IDA: Inferred from direct assay	26818531	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	26818531	GOA
part of receptor complex	IDA IDA: Inferred from direct assay	23382219	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TRPV3 Protein Structure

Ank_2

Ank

Ion_trans

0
200
400
600
790 a.a.

Protein Preferred Names	Protein Names
transient receptor potential cation channel subfamily V member 3	VRL-3

Related Diseases

Diseases	Alias
Olmsted Syndrome 1	OLMS1 Autosomal Dominant Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques Palmoplantar Keratoderma, Mutilating, With Periorificial Keratotic Plaques 1 Ppkm1 Autosomal Dominant Olmsted Syndrome Olmsted Syndrome OLMS Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2	FNEPPK2 Focal Nonepidermolytic Palmoplantar Keratoderma 2 Palmoplantar Keratoderma, Non-Epidermolytic, Focal 2 Keratoderma, Palmoplantar, Nonepidermolytic, Focal, Type 2
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Focal Nonepidermolytic Palmoplantar Keratoderma Isolated Focal Non-Epidermolytic Palmoplantar Keratoderma FNEPPK1 Ppkfne Keratoderma, Focal Nonepidermolytic Palmoplantar Palmoplantar Keratoderma, Nonepidermolytic, Focal Hyperkeratosis Of The Palms And Soles And Esophageal Papillomas Fneppk Focal Nonepidermolytic Palmoplantar Keratoderma 1 Keratoderma, Palmoplantar, Non-Epidermolytic, Focal 1 Keratoderma, Palmoplantar, Nonepidermolytic, Focal, Type 1
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Olmsted Syndrome Mutilating Palmoplantar Hyperkeratosis With Periorificial Keratotic Plaques Palmoplantar And Periorificial Keratoderma Olms
Focal Palmoplantar Keratoderma	Focal Ppk Focal Keratosis Palmoplantaris Focal Palmoplantar Hyperkeratosis
Olmsted Syndrome, X-Linked	OLMSX Palmoplantar Keratoderma, Mutilating, With Periorificial Keratotic Plaques, X-Linked Ppkmx X-Linked Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques X-Linked Olmsted Syndrome Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques, X-Linked
Erythromelalgia	Primary Erythromelalgia Erythermalgia Primary Erythermalgia Mitchell Disease Familial Erythromelalgia
Scapuloperoneal Spinal Muscular Atrophy	SPSMA Amyotrophy, Neurogenic Scapuloperoneal, New England Type Neurogenic Scapuloperoneal Amyotrophy, New England Type Scapuloperoneal Neuronopathy Spinal Muscular Atrophy, Scapuloperoneal Amyotrophy Neurogenic Scapuloperoneal New England Type Muscular Atrophy, Spinal Scapuloperoneal Form Of Spinal Muscular Atrophy
Familial Episodic Pain Syndrome	Feps
Diabetic Neuropathy	Diabetic Neuropathies
Brachyolmia	Brachyrachia
Alopecia
Dentin Sensitivity	Sensitive Dentin
Metatropic Dysplasia	Metatropic Dwarfism MTD Metatropic Dysplasia Type 1 Metatropic Dysplasia, Nonlethal Dominant
Developmental And Epileptic Encephalopathy 24	DEE24 Epileptic Encephalopathy, Early Infantile, 24 Eiee24 Developmental And Epileptic Encephalopathy, 24 Early Infantile Epileptic Encephalopathy 24 Encephalopathy, Epileptic, Early Infantile, Type 24
Photoparoxysmal Response 1	Photosensitivity Disease Photodermatitis Photosensitivity Disorders PPR1 Ppr Photosensitivity Photoconvulsive Reaction Epilepsy, Photogenic Photosensitivity Of Skin Dermatitis, Phototoxic
Pachyonychia Congenita 1	Pachyonychia Congenita Jadassohn-Lewandowsky Syndrome Pachyonychia Congenita Syndrome PC1 Pachyonychia Congenita, Jadassohn-Lewandowsky Type Congenital Pachyonychia Pachyonychia Congenita, Type 1 Pachyonychia Congenita, Jadassohn-Lewandowsky Type, Formerly Jadassohn-Lewandowsky Syndrome, Formerly Jackson-Lawler Type Pachyonychia Congenita Pachyonychia Congenita Type 1 Jackson-Lawler Syndrome Jadassohn-Lewandowski Syndrome Pc Pachyonychia Congenita Jackson-Lawler Type Pachyonychia Congenita Jadassohn-Lewandowsky Type Pachyonychia Congenita Jackson Lawler Type Pc-1 Pachyonychia Congenita, Jadassohn Lewandowsky Type Pachyonychia Congenita, Type 2
Migraine With Or Without Aura 1	Migraine Migraine With Or Without Aura, Susceptibility To, 1 Migraine Disorder Migraine Variant Migraines Migraine Disorders Mgr1 Mgau Ma Migraine With Or Without Aura Classic Migraine Common Migraine Disorder, Migraine Headache Migraine Headache Migrainous Migraine Headache Migraine Syndrome Headache Including Migraine Migraine, Susceptibility To

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Approval
Pre-clinical Phase

Approval

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-N0808	Camphor	Agonist	98.0%	Unkown
HY-B1239	Drofenine hydrochloride		98.10%	Unkown
HY-B1239A	Drofenine		/	Unkown

Pre-clinical Phase

Bioactive Molecules (6)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-165559	Trpvicin	Inhibitor	99.4%	Unkown
HY-131868	TRPV3 antagonist 74a	Antagonist	99.85%	Unkown
HY-125527A	17(R)-Resolvin D1	Inhibitor	99.69%	Unkown
HY-186172	KS0365	Activator	/	Unkown
HY-183281	TRPV3 antagonist-1	Antagonist	/	Unkown
HY-118535	N-Oleoyl valine	Antagonist	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	TRPV3	MGD	MGI:2181407
Bos taurus	TRPV3	VGNC	VGNC:36399
Felis catus	TRPV3	VGNC	VGNC:66597
Rattus norvegicus	TRPV3	RGD	RGD:1564531
Canis familiaris	TRPV3	VGNC	VGNC:47884
Macaca mulatta	TRPV3	VGNC	VGNC:99308
Others	TRPV3	NCBI