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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

中文名称:瞬时受体电位阳离子通道亚家族 V 成员 3

种属: Homo sapiens

同用名: OLMS; VRL3; OLMS1; FNEPPK2

基因 ID: 162514 | 基因类型: protein coding

关于 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.

功能概要

该基因产物属于非选择性阳离子通道家族,在各种过程中发挥作用,包括温度感觉和血管调节。该家族的热敏成员在终止于皮肤的感觉神经元亚群中表达,并在不同的生理温度下被激活。该通道在 22 到 40 摄氏度之间的温度下被激活。该基因位于 17 号染色体上的另一个家族成员基因附近,这两种编码的蛋白质被认为相互关联以形成异聚通道。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供,2012 年 4 月]

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 基因产物(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

TRPV3 蛋白结构

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.
蛋白主名 其他名称

transient receptor potential cation channel subfamily V member 3

VRL-3

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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