Polycystin-2, also known as TRPP2 or PC2 is a protein that is encoded by PKD2 gene in human. It is a member of the polycystin protein family. This protein contains multiple transmembrane domains, and cytoplasmic N- and C-termini. It has been reported that PKD2 is a Ca2+ permeable cation channel and mediates the release of Ca2+ from intracellular stores and transduces mechanostimulatory signals from the primary cilium. PKD2 may be involved in several signaling pathways, including some of the same growth-suppression pathways that have been attributed to PKD1. The PKD1 and PKD2 proteins interact physically with one another and with numerous other proteins that may modulate their trafficking properties or their involvement in signal transduction.
Basic Information of PKD2 | |
Protein Name | Polycystin-2 |
Gene Name | PKD2 |
Aliases | PC2, Autosomal dominant polycystic kidney disease type II protein, Polycystic kidney disease 2 protein, Polycystwin1, R48321, Transient receptor potential cation channel subfamily P member 2 |
Organism | Homo sapiens (Human) |
UniProt ID | Q13563 |
Transmembrane Times | 6 |
Length (aa) | 968 |
Sequence | MVNSSRVQPQQPGDAKRPPAPRAPDPGRLMAGCAAVGASLAAPGGLCEQRGLEIEMQRIRQAAARDPPAGAAASPSPPLSSCSRQAWSRDNPGFEAEEEEEEVEGEEGGMVVEMDVEWRPGSRRSAASSAVSSVGARSRGLGGYHGAGHPSGRRRRREDQGPPCPSPVGGGDPLHRHLPLEGQPPRVAWAERLVRGLRGLWGTRLMEESSTNREKYLKSVLRELVTYLLFLIVLCILTYGMMSSNVYYYTRMMSQLFLDTPVSKTEKTNFKTLSSMEDFWKFTEGSLLDGLYWKMQPSNQTEADNRSFIFYENLLLGVPRIRQLRVRNGSCSIPQDLRDEIKECYDVYSVSSEDRAPFGPRNGTAWIYTSEKDLNGSSHWGIIATYSGAGYYLDLSRTREETAAQVASLKKNVWLDRGTRATFIDFSVYNANINLFCVVRLLVEFPATGGVIPSWQFQPLKLIRYVTTFDFFLAACEIIFCFFIFYYVVEEILEIRIHKLHYFRSFWNCLDVVIVVLSVVAIGINIYRTSNVEVLLQFLEDQNTFPNFEHLAYWQIQFNNIAAVTVFFVWIKLFKFINFNRTMSQLSTTMSRCAKDLFGFAIMFFIIFLAYAQLAYLVFGTQVDDFSTFQECIFTQFRIILGDINFAEIEEANRVLGPIYFTTFVFFMFFILLNMFLAIINDTYSEVKSDLAQQKAEMELSDLIRKGYHKALVKLKLKKNTVDDISESLRQGGGKLNFDELRQDLKGKGHTDAEIEAIFTKYDQDGDQELTEHEHQQMRDDLEKEREDLDLDHSSLPRPMSSRSFPRSLDDSEEDDDEDSGHSSRRRGSISSGVSYEEFQVLVRRVDRMEHSIGSIVSKIDAVIVKLEIMERAKLKRREVLGRLLDGVAEDERLGRDSEIHREQMERLVREELERWESDDAASQISHGLGTPVGLNGQPRPRSSRPSSSQSTEGMEGAGGNGSSNVHV |
PKD2 functions as a calcium-permeable channel which is involved in calcium transport and calcium signaling in renal epithelial cells. This protein interacting with PKD1 may be involved in renal tubular development, morphology, and function. A study has reported that PKD2 interacts with PKD1, and they may be partners in a common signaling pathway which is necessary to maintain the normal, differentiated state of renal tubule cells. Mutations in this gene are associated with autosomal dominant polycystic kidney disease type 2. In addition, PKD2, together with PKD1 is involved in the regulation of mechanotransductive signaling via controlling of cilium length.
Fig.1 The topology of full-length PC2 and the EF-hand domain sequence alignment. (Yang, 2016)
This article identifies a two-residue hydrophobic gate in PKD2L1 and a single-residue hydrophobic gate in PKD2.
This is the first report of autosomal dominant polycystic kidney disease (ADPKD) complicated with aortic dissection caused by PKD2 mutation.
This article identifies a total of 93 mutations in PKD1 and PKD2 in 98 Chinese families with ADPKD inheritance. And the newly identified sites for known mutations will facilitate the early diagnosis and prediction of prognosis in patients with ADPKD.
The study indicates that the PKD1/PKD2 mutation status varies with ethnicity, and the PKD1/PKD2 genotype may influence the clinical phenotype of ADPKD.
This research investigates the interaction network of human PKD2 in the cytosol and in Golgi-enriched subcellular protein fractions.
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