Dec 25, 2024 · PKD2 (Polycystin 2, Transient Receptor Potential Cation Channel) is a Protein Coding gene. Diseases associated with PKD2 include Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease and Autosomal Dominant Polycystic Kidney Disease.

The gene PKD2 also known as TRPP2, encodes a member of the polycystin protein family, called TRPP, and contains multiple transmembrane domains, and cytoplasmic N- and C-termini. The protein may be an integral membrane protein involved in cell-cell/matrix interactions.

More than 75 mutations in the PKD2 gene have been identified in people with polycystic kidney disease. These mutations are responsible for about 15 percent of all cases of autosomal dominant polycystic kidney disease (ADPKD), which is the most common type of this disorder.

PKD2 and PKD1 genes are mutated in autosomal dominant polycystic kidney disease. PKD2 can form either a homomeric cation channel or a heteromeric complex with the PKD1 receptor, presumed to respond to ligand(s) and/or mechanical stimuli. Here, we identify a two-residue hydrophobic gate in PKD2L1, and a single-residue hydrophobic gate in PKD2.

Aug 10, 2018 · 与ADPKD致病相关的基因为pkd1和pkd2，其基因产物分别为膜蛋白PKD1和PKD2。二者的突变在所有病人中分别占到大约85%和10%的比例。人源pkd1基因定位于16号染色体，编码了长度为4302个氨基酸包含11次跨膜螺旋的蛋白PKD1。由于PKD1分子量十分巨大，研究人员对其研究一直 ...

PKD2 was first identified as the pathogenic protein for autosomal dominant polycystic kidney disease (ADPKD) and is widely recognized as an ion channel. Subsequent studies have shown that PKD2 is widely expressed in various animal tissues and plays a crucial role in tissue and organ development.

Aug 10, 2016 · PKD2-related autosomal dominant polycystic kidney disease (ADPKD) is widely acknowledged to be of milder severity than PKD1-related disease, but population-based studies depicting the exact burden of the disease are lacking. We aimed to revisit PKD2 prevalence, clinical presentation, mutation spectrum, and prognosis through the Genkyst cohort.

Dec 20, 2017 · Protein kinase D2 (PKD2) is a serine/threonine kinase that belongs to the PKD family of calcium–calmodulin kinases, which comprises three isoforms: PKD1, PKD2, and PKD3....

Jul 29, 2024 · 常染色体显性遗传性多囊肾 (autosomal dominant polycystic kidney disease, ADPKD)是常见病，在活产儿中发病率约为1/1000-1/400 [1,2]。 该病通常没有临床症状，因此得到诊断的患者估计不到1/2 [1,3]。 本专题将总结ADPKD的遗传学以及囊肿的生长机制。 其他专题会介绍ADPKD的诊断和筛查，以及常染色体隐性遗传性多囊肾 (一种儿童疾病)。 (参见 “成人常染色体显性遗传性多囊肾的流行病学、临床表现和诊断” 和 “儿童常染色体隐性遗传性多囊肾”) 大多 …

Ubiquitous expression in endometrium (RPKM 27.5), kidney (RPKM 19.2) and 25 other tissues. 该基因编码多囊蛋白家族的一个成员。 编码的蛋白质是一种多通道膜蛋白，作为钙可渗透阳离子通道，参与肾上皮细胞中的钙转运和钙信号传导。 这种蛋白质与多囊蛋白 1 相互作用，它们可能是参与肾小管形态发生的常见信号级联中的伙伴。 该基因的突变与 2 型常染色体显性多囊肾病有关。 [RefSeq 提供，2011 年 3 月] This gene encodes a member of the polycystin protein family.