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

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

Homo sapiens

Also known as OLMS; VRL3; OLMS1; FNEPPK2

Gene ID: 162514 | Gene type: protein coding

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 Reference 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 Reference Source
involved in negative regulation of hair cycle IMP
IMP: Inferred from mutant phenotype
21593771 GOA
Cellular Component GO Annotation Evidence Reference 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_2: Ankyrin repeats (3 copies) (134 - 243)

Ank

Ank: Ankyrin repeat (262 - 284)

Ank

Ank: Ankyrin repeat (340 - 362)

Ion_trans

Ion_trans: Ion transport protein (492 - 677)

  • 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

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