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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
Pkd2 - polycystin 2, transient receptor potential cation channel
Alias:
PC2
TRPP2
C030034P18Rik
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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ATP酶结合活性;阳离子通道活性;以及相同蛋白质结合活性。参与多个过程,包括节段流检测;无机阳离子跨膜运输;胎盘发育。在几个过程的上游或内部发挥作用,包括动物器官发育;Ryanodine敏感钙释放通道活性的负调控;以及通过JAK-STAT的受体信号通路。位于几个细胞组件中,包括基底皮质;纤毛膜;和微管细胞骨架。是多囊蛋白复合物的一部分。与细胞-细胞连接共同定位。在几个结构中表达,包括消化系统;心血管系统;中枢神经系统;早期概念期;和生殖泌尿系统。用于研究常染色体显性多囊肾病和多囊肾病2。该基因的人类同源物与常染色体显性多囊肾病;颅内动脉瘤;多囊肾病;多囊肾病2;和视网膜变性有关。与人PKD2(瞬时受体电位阳离子通道,多囊蛋白2)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:18764
ENSEMBL:ENSMUSG00000034462
UNIPROT:O35245
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
18764
2
15
54307 bp
108.98
16
28
Pkd2 Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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