Polycystin 2 Products

Description

FUNCTION: Functions as a calcium permeable cation channel. PKD1 and PKD2 may function through a common signaling pathway that is necessary for normal tubulogenesis. SUBUNIT: Interacts with PKD1. PKD1 requires the presence of PKD2 for stable expression. Interacts with CD2AP. SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. TISSUE SPECIFICITY: Strongly expressed in ovary, fetal and adult kidney, testis, and small intestine. Not detected in peripheral leukocytes. DOMAIN: The C-terminal is implicated in the interaction with PKD1. DISEASE: Defects in PKD2 are the cause of polycystic kidney disease autosomal dominant type 2 (ADPKD2). ADPKD2 represents approximately 15% of the cases of ADPKD, a common genetic disease affecting about 1:400 to 1:1000 individuals. ADPKD is characterized by progressive formation and enlargement of cysts in both kidneys, typically leading to end-stage renal disease in adult life. Cysts also occurs in the liver and other organs. ADPKD2 is clinically milder than ADPKD1 but it has a deleterious impact on overall life expectancy.

Bioinformatics

Entrez	5311 Human
Uniprot	Q13563 Human
Product By Gene ID	5311
Alternate Names	APKD2 Autosomal dominant polycystic kidney disease type II protein MGC138466 MGC138468 PC2 Pc-2 PKD4 polycystic kidney disease 2 (autosomal dominant) Polycystic kidney disease 2 protein polycystin-2 polycystwin R48321 transient receptor potential cation channel, subfamily P, member 2 TRPP2

Research Areas for Polycystin 2

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