Polycystic kidney disease 2

Polycystic kidney disease 2 (autosomal dominant)
Rendering based on PDB 2KLD.
Available structures PDB 2KLD, 2KLE, 2KQ6, 3HRN, 3HRO
Identifiers
Symbols	PKD2; APKD2; MGC138466; MGC138468; PC2; PKD4; Pc-2; TRPP2
External IDs	OMIM: 173910 MGI: 1099818 HomoloGene: 20104 IUPHAR: TRPP1 GeneCards: PKD2 Gene
Gene Ontology Molecular function • receptor binding • ion channel activity • voltage-gated chloride channel activity • voltage-gated sodium channel activity • calcium channel activity • potassium channel activity • calcium ion binding • protein binding • cytoskeletal protein binding • channel activity • ATPase binding Cellular component • polycystin complex • cytoplasm • endoplasmic reticulum • plasma membrane • cilium • microtubule basal body • basal plasma membrane • integral to membrane • lamellipodium • motile primary cilium • nonmotile primary cilium • basal cortex Biological process • kidney development • embryonic placenta development • ion transport • cellular calcium ion homeostasis • cell cycle arrest • JAK-STAT cascade • determination of left/right symmetry • heart development • regulation of cAMP metabolic process • detection of mechanical stimulus • release of sequestered calcium ion into cytosol • negative regulation of ryanodine-sensitive calcium-release channel activity Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	5311	18764
Ensembl	ENSG00000118762	ENSMUSG00000034462
UniProt	Q13563	Q7TSI7
RefSeq (mRNA)	NM_000297	NM_008861.3
RefSeq (protein)	NP_000288	NP_032887.3
Location (UCSC)	Chr 4: 88.93 – 89 Mb	Chr 5: 104.89 – 104.93 Mb
PubMed search	[1]	[2]

Polycystin-2 is a protein that in humans is encoded by the PKD2 gene.

This gene encodes a member of the polycystin protein family, called TRPP2, previously known as polycystin-2, PC2 or APKD2. TRPP2 contains multiple transmembrane domains, and cytoplasmic N- and C-termini. The protein may be an integral membrane protein involved in cell-cell/matrix interactions. TRPP2 may function in renal tubular development, morphology, and function, and may modulate intracellular calcium homoeostasis and other signal transduction pathways. This protein interacts with polycystin 1(TRPP1) to produce cation-permeable currents.

Clinical significance

Mutations in this gene have been associated with autosomal dominant polycystic kidney disease.

Interactions

Polycystic kidney disease 2 has been shown to interact with TRPC1, PKD1 and TNNI3.

See also

• TRPP
• HAX1

External links

• GeneReviews/NIH/NCBI/UW entry on Polycystic Kidney Disease, Autosomal Dominant
• "Transient Receptor Potential Channels: TRPP1". IUPHAR Database of Receptors and Ion Channels. International Union of Basic and Clinical Pharmacology. http://www.iuphar-db.org/IC/ObjectDisplayForward?objectId=45&familyId=12. 

Further reading

• Islam, Md. Shahidul (January 2011). Transient Receptor Potential Channels. Advances in Experimental Medicine and Biology. 704. Berlin: Springer. pp. 700. ISBN 978-94-007-0264-6. 
• Torres VE (1998). "New insights into polycystic kidney disease and its treatment". Curr. Opin. Nephrol. Hypertens. 7 (2): 159–69. doi:10.1097/00041552-199803000-00004. PMID 9529618. 
• Deltas CC (2001). "Mutations of the human polycystic kidney disease 2 (PKD2) gene". Hum. Mutat. 18 (1): 13–24. doi:10.1002/humu.1145. PMID 11438989. 
• Boletta A, Germino GG (2004). "Role of polycystins in renal tubulogenesis". Trends Cell Biol. 13 (9): 484–92. doi:10.1016/S0962-8924(03)00169-7. PMID 12946628. 
• Cantiello HF (2004). "Regulation of calcium signaling by polycystin-2". Am. J. Physiol. Renal Physiol. 286 (6): F1012–29. doi:10.1152/ajprenal.00181.2003. PMID 15130895. 
• Everson GT, Taylor MR, Doctor RB (2004). "Polycystic disease of the liver". Hepatology 40 (4): 774–82. doi:10.1002/hep.20431. PMID 15382167. 
• Witzgall R (2007). "TRPP2 channel regulation". Handb Exp Pharmacol. Handbook of Experimental Pharmacology 179 (179): 363–75. doi:10.1007/978-3-540-34891-7_22. ISBN 978-3-540-34889-4. PMID 17217069. 
• Köttgen M (2007). "TRPP2 and autosomal dominant polycystic kidney disease". Biochim. Biophys. Acta 1772 (8): 836–50. doi:10.1016/j.bbadis.2007.01.003. PMID 17292589. 
• Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474. 
• Mochizuki T, Wu G, Hayashi T, et al. (1996). "PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein". Science 272 (5266): 1339–42. doi:10.1126/science.272.5266.1339. PMID 8650545. 
• Schneider MC, Rodriguez AM, Nomura H, et al. (1997). "A gene similar to PKD1 maps to chromosome 4q22: a candidate gene for PKD2". Genomics 38 (1): 1–4. doi:10.1006/geno.1996.0584. PMID 8954772. 
• Yu W, Andersson B, Worley KC, et al. (1997). "Large-Scale Concatenation cDNA Sequencing". Genome Res. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139146. 
• Qian F, Germino FJ, Cai Y, et al. (1997). "PKD1 interacts with PKD2 through a probable coiled-coil domain". Nat. Genet. 16 (2): 179–83. doi:10.1038/ng0697-179. PMID 9171830. 
• Xenophontos S, Constantinides R, Hayashi T, et al. (1997). "A translation frameshift mutation induced by a cytosine insertion in the polycystic kidney disease 2 gene (PDK2)". Hum. Mol. Genet. 6 (6): 949–52. doi:10.1093/hmg/6.6.949. PMID 9175744. 
• Tsiokas L, Kim E, Arnould T, et al. (1997). "Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2". Proc. Natl. Acad. Sci. U.S.A. 94 (13): 6965–70. doi:10.1073/pnas.94.13.6965. PMC 21268. PMID 9192675. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=21268. 
• Hayashi T, Mochizuki T, Reynolds DM, et al. (1997). "Characterization of the exon structure of the polycystic kidney disease 2 gene (PKD2)". Genomics 44 (1): 131–6. doi:10.1006/geno.1997.4851. PMID 9286709. 
• Veldhuisen B, Saris JJ, de Haij S, et al. (1997). "A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2)". Am. J. Hum. Genet. 61 (3): 547–55. doi:10.1086/515497. PMC 1715954. PMID 9326320. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1715954. 
• Viribay M, Hayashi T, Tellería D, et al. (1998). "Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene". Hum. Genet. 101 (2): 229–34. doi:10.1007/s004390050621. PMID 9402976. 
• Pei Y, Wang K, Kasenda M, et al. (1998). "A novel frameshift mutation induced by an adenosine insertion in the polycystic kidney disease 2 (PKD2) gene". Kidney Int. 53 (5): 1127–32. doi:10.1046/j.1523-1755.1998.00890.x. PMID 9573526.