Pkd2 - polycystin 2, transient receptor potential cation channel Gene

中文名称：多囊蛋白 2 ，瞬时受体电位阳离子通道

种属: Mus musculus

同用名: PC2; TRPP2; C030034P18Rik

关于 Pkd2

功能概要

该基因编码的蛋白可启动多种功能，包括 ATPase 绑定活动；阳离子通道活动；和相同的蛋白质结合活性。涉及多个过程，包括节点流量的检测；无机阳离子跨膜转运；和胎盘发育。作用于多个过程的上游或内部，包括动物器官发育；兰尼碱敏感的钙释放通道活性的负调节；和受体信号通路通过 JAK-STAT。位于多个细胞成分中，包括基底皮层；睫状膜;和微管细胞骨架。多囊蛋白复合物的一部分。与细胞-细胞连接共定位。以多种结构表达，包括消化系统；心血管系统;中枢神经系统;早孕;和泌尿生殖系统。用于研究常染色体显性多囊肾病和多囊肾病 2. 该基因的人类直向同源基因与常染色体显性多囊肾病有关；颅内动脉瘤;多囊肾;多囊肾病 2；和视网膜变性。与人 PKD2（多囊蛋白 2，瞬时受体电位阳离子通道）同源。 [由基因组资源联盟提供，2022 年 4 月]

Enables several functions, including ATPase binding activity; cation channel activity; and identical protein binding activity. Involved in several processes, including detection of nodal flow; inorganic cation transmembrane transport; and placenta development. Acts upstream of or within several processes, including animal organ development; negative regulation of ryanodine-sensitive calcium-release channel activity; and receptor signaling pathway via JAK-STAT. Located in several cellular components, including basal cortex; ciliary membrane; and microtubule Cytoskeleton. Part of polycystin complex. Colocalizes with cell-cell junction. Is expressed in several structures, including alimentary system; cardiovascular system; central nervous system; early conceptus; and genitourinary system. Used to study autosomal dominant polycystic kidney disease and polycystic kidney disease 2. Human ortholog(s) of this gene implicated in autosomal dominant polycystic kidney disease; intracranial aneurysm; polycystic kidney disease; polycystic kidney disease 2; and retinal degeneration. Orthologous to human PKD2 (polycystin 2, transient receptor potential cation channel). [provided by Alliance of Genome Resources, Apr 2022]