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中文人类
TRPV4 - Transient Receptor Potential Cation Channel Subfamily V Member 4
Alias:
SMAL
VRL2
BCYM3
CMT2C
SPSMA
TRP12
VROAC
HMSN2C
OTRPC4
SSQTL1
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这个基因编码瞬时受体电位通道(TRP)超家族中OSM9样瞬时受体电位通道(OTRPC)亚家族的成员。编码的蛋白质是一种通透Ca2+的非选择性阳离子通道，被认为参与调节全身渗透压。这个基因的突变是导致脊柱骨骺和代谢异常矮小症以及遗传性运动和感觉神经病变IIC型的原因。已经发现这个基因有多个转录变异体，编码不同的异构体。[RefSeq，2010年4月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
TRPV4 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
