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

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

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables calcium channel activity IDA
IDA: 通过直接分析推断
12077604 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
32572252 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
26818531 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of hair cycle IMP
IMP: 通过突变表型推断
21593771 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
26818531 GOA
located in lysosome IDA
IDA: 通过直接分析推断
26818531 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
26818531 GOA
part of receptor complex IDA
IDA: 通过直接分析推断
23382219 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

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

相关产品

Approval
生物活性分子 (1)
目录号 产品名 作用方式
纯度 是否罕见病
HY-N0808 Camphor ≥98.0% 否
Pre-clinical Phase
生物活性分子 (9)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-N8264 Moringin Agonist 99.95% 否
HY-157131 TRPV2-selective blocker 1 Inhibitor 99.84% 否
HY-131868 TRPV3 antagonist 74a Antagonist 99.85% 否
HY-160900 RN-1665 Antagonist 99.93% 否
HY-125527A 17(R)-Resolvin D1 Inhibitor 99.1% 否
HY-RS15123 TRPV3 Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-118535 N-Oleoyl valine Antagonist / 否
HY-N2941 Bisandrographolide C Activator / 否
HY-125527AS 17(R)-Resolvin D1-d5 Inhibitor / 否

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
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