TRPV4 (transient receptor potential cation channel subfamily V member 4)

基因基本信息

基因基本信息

symbol:
TRPV4
locus group:
protein-coding gene
location:
12q24.11
gene_family:
Transient receptor potential cation channels|Ankyrin repeat domain containing
alias symbol:
OTRPC4|TRP12|VROAC|VRL-2|VR-OAC|CMT2C
alias name:
osmosensitive transient receptor p…
entrez id:
59341
ensembl gene id:
ENSG00000111199
ucsc gene id:
uc001tpk.3
refseq accession:
NM_021625
hgnc_id:
HGNC:18083
approved reserved:
2002-01-29

基因染色体位置

基因染色体位置

12q24.11
基因染色体位置图

基因简述

基因简述

TRPV4（瞬时受体电位香草素4）是一种非选择性阳离子通道蛋白，属于TRP（瞬时受体电位）基因家族中的TRPV亚家族。TRPV4主要在感觉神经元、内皮细胞、肾脏、皮肤和软骨等组织中表达，参与多种生理功能，包括温度感知（27-34°C的温暖范围）、机械刺激响应（如渗透压和牵张力）以及钙离子平衡调节。TRPV4通过感知细胞外环境变化而被激活，其激活机制包括热、低渗透压、内源性脂质介质（如花生四烯酸代谢物）以及剪切力等物理化学刺激。TRPV4的功能异常与多种疾病相关，例如突变可导致遗传性神经病变（如Charcot-Marie-Tooth病2C型）、骨骼发育异常（如先天性脊柱骨骺发育不良）和疼痛综合征。TRPV4突变通常导致通道功能增强（增益性突变），引发钙离子内流异常，进而影响细胞稳态。过表达TRPV4可能加剧炎症反应、疼痛敏感性和组织损伤，例如在关节炎或肺水肿中观察到其表达上调；而降低表达或抑制TRPV4则可能减轻机械性痛觉过敏和某些水肿症状。TRPV家族（TRPV1-6）的共性在于均包含6个跨膜结构域，形成非选择性阳离子通道，主要通透钙离子，并参与感知温度、渗透压和化学配体等刺激。TRPV4与家族其他成员（如TRPV1感知高温和辣椒素）功能部分重叠但具有独特的激活阈值和组织分布。此外，TRPV4与细胞骨架蛋白（如微管和肌动蛋白）相互作用，影响细胞形态和迁移，在血管舒张和骨发育中起关键作用。研究还发现TRPV4与机械敏感离子通道Piezo存在功能交叉，共同调控机械转导过程。

This gene encodes a member of the OSM9-like transient receptor potential channel (OTRPC) subfamily in the transient receptor potential (TRP) superfamily of ion channels. The encoded protein is a Ca2+-permeable, nonselective cation channel that is thought to be involved in the regulation of systemic osmotic pressure. Mutations in this gene are the cause of spondylometaphyseal and metatropic dysplasia and hereditary motor and sensory neuropathy type IIC. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]

这个基因编码离子通道的瞬时受体电位（TRP）家族的OSM9样瞬时受体电位通道（OTRPC）亚科的成员。所编码的蛋白质是一个钙离子-permeable，非选择性阳离子通道，被认为是参与全身渗透压的调节。在这个基因的突变是spondylometaphyseal和metatropic发育不良和遗传性运动感觉神经病变类型IIC的原因。已发现该基因编码不同亚型的多个抄本变形。 [由RefSeq的，2010年4月提供]

OMIM数据库中对TRPV4基因的介绍     Wikipedia数据库中对TRPV4基因的介绍

基因序列

基因序列

TRPV4基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

TRPV4基因的碱基突变：           仅显示部分snp
rs4635144       rs7303725       rs11068497       rs34779355       rs55766188       rs56079803       rs58560756       rs76088085       rs76273762       rs77877120       rs78776966       rs79857593       rs113106342       rs114316838       rs116107558       rs139749732       rs140139890      

基因表达

基因表达

TRPV4基因在不同组织中的表达：    [UniProt]

基因在不同组织中的表达图

基因引物

基因引物

正向引物序列
正向Tm值
反向引物序列
反向Tm值
评分
AGAAGATCATAGAGAAGCAGCC
60
GCCGGTTGAAGACTTTGAG
59
GAAATGTTAGGCAGATACCCTG
59
TCCTCAAGCGGTTCTTAGC
60
CTGTGGGAGCTTTGTTCTG
59
CAAAGTGGCAAAGCTTAAATCC
59
GGAAGAAGATCATAGAGAAGCAG
59
GGTTGAAGACTTTGAGGATGG
59
AGATGCATTCATCGAGCCA
60
GGACAGACAGAGGGAACAG
59
AGGAAGAAGATCATAGAGAAGCAG
60
GTTGAAGACTTTGAGGATGGG
59

转录因子

转录因子

      尚未收录相关数据

基因本体信息

TRPV4基因（以及对应的蛋白质）的细胞分布位置：

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • 质膜
  • 细胞质
  • 细胞外
  • 高尔基体
  • 囊泡
  • 细胞骨架
  • 内质网
  • 细胞核
  • 内体
  • 溶酶体
  • 线粒体

TRPV4基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0005216
F5H6Q4 (UniProtKB)
IEA
GO:0016021
F5H6Q4 (UniProtKB)
IEA
GO:0034220
F5H6Q4 (UniProtKB)
IEA
GO:0000122
Q9HBA0 (UniProtKB)
IEA
GO:0002024
Q9HBA0 (UniProtKB)
IEA
GO:0003779
Q9HBA0 (UniProtKB)
ISS
GO:0005034
Q9HBA0 (UniProtKB)
IEA
GO:0005080
Q9HBA0 (UniProtKB)
ISS
GO:0005261
Q9HBA0 (UniProtKB)
IDA
GO:0005262
Q9HBA0 (UniProtKB)
IDA
GO:0005262
Q9HBA0 (UniProtKB)
TAS
GO:0005515
Q9HBA0 (UniProtKB)
IPI
GO:0005515
Q9HBA0 (UniProtKB)
IPI
GO:0005516
Q9HBA0 (UniProtKB)
IMP
GO:0005524
Q9HBA0 (UniProtKB)
IEA
GO:0005886
Q9HBA0 (UniProtKB)
ISS
GO:0005886
Q9HBA0 (UniProtKB)
IDA
GO:0005886
Q9HBA0 (UniProtKB)
IDA
GO:0005886
Q9HBA0 (UniProtKB)
TAS
GO:0005912
Q9HBA0 (UniProtKB)
ISS
GO:0005925
Q9HBA0 (UniProtKB)
ISS
GO:0005929
Q9HBA0 (UniProtKB)
IEA
GO:0006816
Q9HBA0 (UniProtKB)
NAS
GO:0006816
Q9HBA0 (UniProtKB)
IDA
GO:0006874
Q9HBA0 (UniProtKB)
IDA
GO:0006884
Q9HBA0 (UniProtKB)
TAS
GO:0007015
Q9HBA0 (UniProtKB)
ISS
GO:0007043
Q9HBA0 (UniProtKB)
ISS
GO:0007204
Q9HBA0 (UniProtKB)
IDA
GO:0007231
Q9HBA0 (UniProtKB)
ISS
GO:0007231
Q9HBA0 (UniProtKB)
TAS
GO:0008017
Q9HBA0 (UniProtKB)
ISS
GO:0009612
Q9HBA0 (UniProtKB)
TAS
GO:0009986
Q9HBA0 (UniProtKB)
IEA
GO:0010628
Q9HBA0 (UniProtKB)
IEA
GO:0010759
Q9HBA0 (UniProtKB)
IEA
GO:0010977
Q9HBA0 (UniProtKB)
ISS
GO:0015275
Q9HBA0 (UniProtKB)
IMP
GO:0016021
Q9HBA0 (UniProtKB)
NAS
GO:0016324
Q9HBA0 (UniProtKB)
IEA
GO:0019901
Q9HBA0 (UniProtKB)
IPI
GO:0019901
Q9HBA0 (UniProtKB)
IPI
GO:0019901
Q9HBA0 (UniProtKB)
IPI
GO:0030027
Q9HBA0 (UniProtKB)
ISS
GO:0030103
Q9HBA0 (UniProtKB)
IEA
GO:0030175
Q9HBA0 (UniProtKB)
ISS
GO:0030426
Q9HBA0 (UniProtKB)
ISS
GO:0030864
Q9HBA0 (UniProtKB)
ISS
GO:0031117
Q9HBA0 (UniProtKB)
ISS
GO:0031410
Q9HBA0 (UniProtKB)
IEA
GO:0031532
Q9HBA0 (UniProtKB)
ISS
GO:0032587
Q9HBA0 (UniProtKB)
ISS
GO:0032868
Q9HBA0 (UniProtKB)
IEA
GO:0034605
Q9HBA0 (UniProtKB)
ISS
GO:0042169
Q9HBA0 (UniProtKB)
ISS
GO:0042538
Q9HBA0 (UniProtKB)
IEA
GO:0042593
Q9HBA0 (UniProtKB)
IEA
GO:0043014
Q9HBA0 (UniProtKB)
ISS
GO:0043117
Q9HBA0 (UniProtKB)
IMP
GO:0043622
Q9HBA0 (UniProtKB)
ISS
GO:0046330
Q9HBA0 (UniProtKB)
IEA
GO:0046785
Q9HBA0 (UniProtKB)
ISS
GO:0047484
Q9HBA0 (UniProtKB)
IEA
GO:0048487
Q9HBA0 (UniProtKB)
ISS
GO:0050729
Q9HBA0 (UniProtKB)
IEA
GO:0050891
Q9HBA0 (UniProtKB)
IMP
GO:0051015
Q9HBA0 (UniProtKB)
ISS
GO:0070374
Q9HBA0 (UniProtKB)
IEA
GO:0070509
Q9HBA0 (UniProtKB)
ISS
GO:0070509
Q9HBA0 (UniProtKB)
ISS
GO:0070588
Q9HBA0 (UniProtKB)
IMP
GO:0070588
Q9HBA0 (UniProtKB)
TAS
GO:0071470
Q9HBA0 (UniProtKB)
ISS
GO:0071476
Q9HBA0 (UniProtKB)
ISS
GO:0071476
Q9HBA0 (UniProtKB)
IMP
GO:0071477
Q9HBA0 (UniProtKB)
IEA
GO:0071639
Q9HBA0 (UniProtKB)
IEA
GO:0071642
Q9HBA0 (UniProtKB)
IEA
GO:0071651
Q9HBA0 (UniProtKB)
IEA
GO:0097497
Q9HBA0 (UniProtKB)
IMP
GO:1903444
Q9HBA0 (UniProtKB)
IEA
GO:1903759
Q9HBA0 (UniProtKB)
IEA
GO:2000340
Q9HBA0 (UniProtKB)
IEA
GO:2000507
Q9HBA0 (UniProtKB)
IEA
GO:2000778
Q9HBA0 (UniProtKB)
IEA
GO:0005881
Q9HBA0 (UniProtKB)
ISS

基因相关microRNA

基因相关microRNA

可能调控 TRPV4基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

MINT

BioGrid

IntAct

mentha

String

基因与其他基因之间的相互作用关系图
序号 作用方式 资源库来源/分值 基因名称 基因名称

基因通路

基因通路

基因相关疾病

基因相关疾病

疾病名称 关系值 NofPmids NofSnps 来源
疾病名称 关系值 NofPmids NofSnps 来源
Metatropic dwarfism 0.482442977 9 9 BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT
Brachyolmia Type 3 0.481628651 6 2 BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT
Spondylometaphyseal dysplasia, Kozlowski type 0.481357209 6 5 BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT
Parastremmatic dwarfism 0.480814326 4 1 BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT
Scapuloperoneal Form of Spinal Muscular Atrophy 0.480542884 3 3 BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder) 0.360542884 6 0 BeFree_CTD_human_ORPHANET_UNIPROT
SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE 0.360271442 1 4 BeFree_CLINVAR_CTD_human_ORPHANET
SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder) 0.36 3 5 CLINVAR_ORPHANET_UNIPROT
Digital Arthropathy-Brachydactyly, Familial 0.36 1 3 CLINVAR_ORPHANET_UNIPROT
Charcot-Marie-Tooth Disease 0.241085767 5 4 BeFree_CLINVAR_CTD_human

基因相关服务

基因相关服务

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