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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
小鼠
Trpv4 - transient receptor potential cation channel, subfamily V, member 4
Alias:
Trp12
VRL-2
VROAC
OTRPC4
VR-OAC
0610033B08Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
具有多种功能,包括SH2结构域结合活性;钙通道活性;和渗透传感器活性。参与多个过程,包括细胞低渗盐度响应;MAPK级联的正向调节;和细胞因子的正向调节。在几个过程的上游或内部发挥作用,包括高渗盐度响应;渗透感知信号通路;和加压素分泌。位于粘附连接处;鞭毛;和质膜上。在几个结构中表达,包括自动爪;大脑;呼吸系统;感觉器官;和骨架。用于研究常染色体显性非综合征性耳聋25。该基因的人类同源物涉及Charcot-Marie-Tooth疾病轴突型2C;运动神经元病(多种);骨软骨发育异常(多种);和骨坏死。与人TRPV4(瞬时受体电位阳离子通道亚家族V成员4)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:63873
ENSEMBL:ENSMUSG00000014158
UNIPROT:Q9EPK8
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
63873
4
16
36285 bp
98.03
18
20
Trpv4 Genetics information (-)
GRCm39
Sequence Homology
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* This data comes from NCBI.
Gene Expression
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Name
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