Polycystin 2 Explained

Polycystin-2 (PC2)^[1] is a protein that in humans is encoded by the PKD2 gene.^{[2] [3] [4]}

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. TRPP2 may function in renal tubular development, morphology, and function, and may modulate intracellular calcium homeostasis and other signal transduction pathways. This protein interacts with polycystin 1 (TRPP1) to produce cation-permeable currents. It was discovered by Stefan Somlo at Yale University.

Clinical significance

Mutations in this gene have been associated with autosomal dominant polycystic kidney disease.^[4]

Interactions

Polycystin 2 has been shown to interact with the proteins TRPC1,^[5] PKD1^{[5] [6]} and TNNI3.^[7]

See also

• HAX1
• TRPP

Further reading

• Book: Islam MS . Transient Receptor Potential Channels . January 2011 . 704 . Springer . Berlin . 700 . Advances in Experimental Medicine and Biology . 978-94-007-0264-6 .
• Torres VE . New insights into polycystic kidney disease and its treatment . Current Opinion in Nephrology and Hypertension . 7 . 2 . 159–169 . March 1998 . 9529618 . 10.1097/00041552-199803000-00004 . 9719193 .
• Deltas CC . Mutations of the human polycystic kidney disease 2 (PKD2) gene . Human Mutation . 18 . 1 . 13–24 . 2001 . 11438989 . 10.1002/humu.1145 . 11511861 . free .
• Boletta A, Germino GG . Role of polycystins in renal tubulogenesis . Trends in Cell Biology . 13 . 9 . 484–492 . September 2003 . 12946628 . 10.1016/S0962-8924(03)00169-7 .
• Cantiello HF . Regulation of calcium signaling by polycystin-2 . American Journal of Physiology. Renal Physiology . 286 . 6 . F1012–F1029 . June 2004 . 15130895 . 10.1152/ajprenal.00181.2003 . 6715458 .
• Everson GT, Taylor MR, Doctor RB . Polycystic disease of the liver . Hepatology . 40 . 4 . 774–782 . October 2004 . 15382167 . 10.1002/hep.20431 . free .
• Book: Witzgall R . Transient Receptor Potential (TRP) Channels . TRPP2 channel regulation . 179 . 179 . 363–375 . 2007 . 17217069 . 10.1007/978-3-540-34891-7_22 . 978-3-540-34889-4 . Handbook of Experimental Pharmacology .
• Köttgen M . TRPP2 and autosomal dominant polycystic kidney disease . Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease . 1772 . 8 . 836–850 . August 2007 . 17292589 . 10.1016/j.bbadis.2007.01.003 . 20063435 . free .
• Andersson B, Wentland MA, Ricafrente JY, Liu W, Gibbs RA . A "double adaptor" method for improved shotgun library construction . Analytical Biochemistry . 236 . 1 . 107–113 . April 1996 . 8619474 . 10.1006/abio.1996.0138 .
• Mochizuki T, Wu G, Hayashi T, Xenophontos SL, Veldhuisen B, Saris JJ, Reynolds DM, Cai Y, Gabow PA, Pierides A, Kimberling WJ, Breuning MH, Deltas CC, Peters DJ, Somlo S . 6 . PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein . Science . 272 . 5266 . 1339–1342 . May 1996 . 8650545 . 10.1126/science.272.5266.1339 . 28192819 . 1996Sci...272.1339M .
• Schneider MC, Rodriguez AM, Nomura H, Zhou J, Morton CC, Reeders ST, Weremowicz S . A gene similar to PKD1 maps to chromosome 4q22: a candidate gene for PKD2 . Genomics . 38 . 1 . 1–4 . November 1996 . 8954772 . 10.1006/geno.1996.0584 .
• Yu W, Andersson B, Worley KC, Muzny DM, Ding Y, Liu W, Ricafrente JY, Wentland MA, Lennon G, Gibbs RA . 6 . Large-scale concatenation cDNA sequencing . Genome Research . 7 . 4 . 353–358 . April 1997 . 9110174 . 139146 . 10.1101/gr.7.4.353 .
• Qian F, Germino FJ, Cai Y, Zhang X, Somlo S, Germino GG . PKD1 interacts with PKD2 through a probable coiled-coil domain . Nature Genetics . 16 . 2 . 179–183 . June 1997 . 9171830 . 10.1038/ng0697-179 . 32450405 .
• Xenophontos S, Constantinides R, Hayashi T, Mochizuki T, Somlo S, Pierides A, Deltas CC . A translation frameshift mutation induced by a cytosine insertion in the polycystic kidney disease 2 gene (PDK2) . Human Molecular Genetics . 6 . 6 . 949–952 . June 1997 . 9175744 . 10.1093/hmg/6.6.949 . free .
• Tsiokas L, Kim E, Arnould T, Sukhatme VP, Walz G . Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2 . Proceedings of the National Academy of Sciences of the United States of America . 94 . 13 . 6965–6970 . June 1997 . 9192675 . 21268 . 10.1073/pnas.94.13.6965 . free . 1997PNAS...94.6965T .
• Hayashi T, Mochizuki T, Reynolds DM, Wu G, Cai Y, Somlo S . Characterization of the exon structure of the polycystic kidney disease 2 gene (PKD2) . Genomics . 44 . 1 . 131–136 . August 1997 . 9286709 . 10.1006/geno.1997.4851 .
• Veldhuisen B, Saris JJ, de Haij S, Hayashi T, Reynolds DM, Mochizuki T, Elles R, Fossdal R, Bogdanova N, van Dijk MA, Coto E, Ravine D, Nørby S, Verellen-Dumoulin C, Breuning MH, Somlo S, Peters DJ . 6 . A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2) . American Journal of Human Genetics . 61 . 3 . 547–555 . September 1997 . 9326320 . 1715954 . 10.1086/515497 .
• Viribay M, Hayashi T, Tellería D, Mochizuki T, Reynolds DM, Alonso R, Lens XM, Moreno F, Harris PC, Somlo S, San Millán JL . 6 . Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene . Human Genetics . 101 . 2 . 229–234 . December 1997 . 9402976 . 10.1007/s004390050621 . 22047464 .
• Pei Y, Wang K, Kasenda M, Paterson AD, Liang Y, Huang E, Lian J, Rogovea E, Somlo S, St George-Hyslop P . 6 . A novel frameshift mutation induced by an adenosine insertion in the polycystic kidney disease 2 (PKD2) gene . Kidney International . 53 . 5 . 1127–1132 . May 1998 . 9573526 . 10.1046/j.1523-1755.1998.00890.x . free .

External links

• GeneReviews/NIH/NCBI/UW entry on Polycystic Kidney Disease, Autosomal Dominant
• Web site: Transient Receptor Potential Channels: TRPP1 . IUPHAR Database of Receptors and Ion Channels . International Union of Basic and Clinical Pharmacology .

Notes and References

1. Web site: PKD2 polycystin 2, transient receptor potential cation channel [Homo sapiens (human)] - Gene - NCBI ]. 2022-11-16 . www.ncbi.nlm.nih.gov.
2. Kimberling WJ, Kumar S, Gabow PA, Kenyon JB, Connolly CJ, Somlo S . Autosomal dominant polycystic kidney disease: localization of the second gene to chromosome 4q13-q23 . Genomics . 18 . 3 . 467–472 . December 1993 . 8307555 . 10.1016/s0888-7543(11)80001-7 .
3. Peters DJ, Spruit L, Saris JJ, Ravine D, Sandkuijl LA, Fossdal R, Boersma J, van Eijk R, Nørby S, Constantinou-Deltas CD . 6 . Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease . Nature Genetics . 5 . 4 . 359–362 . December 1993 . 8298643 . 10.1038/ng1293-359 . 5634589 .
4. Web site: Entrez Gene: PKD2 polycystic kidney disease 2 (autosomal dominant).
5. Tsiokas L, Arnould T, Zhu C, Kim E, Walz G, Sukhatme VP . Specific association of the gene product of PKD2 with the TRPC1 channel . Proceedings of the National Academy of Sciences of the United States of America . 96 . 7 . 3934–3939 . March 1999 . 10097141 . 22398 . 10.1073/pnas.96.7.3934 . 1999PNAS...96.3934T . free .
6. Tsiokas L, Kim E, Arnould T, Sukhatme VP, Walz G . Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2 . Proceedings of the National Academy of Sciences of the United States of America . 94 . 13 . 6965–6970 . June 1997 . 9192675 . 21268 . 10.1073/pnas.94.13.6965 . 1997PNAS...94.6965T . free .
7. Li Q, Shen PY, Wu G, Chen XZ . Polycystin-2 interacts with troponin I, an angiogenesis inhibitor . Biochemistry . 42 . 2 . 450–457 . January 2003 . 12525172 . 10.1021/bi0267792 .