Polycystin 2

Polycystin-2 is a protein that in humans is encoded by the PKD2 gene.[5][6]

PKD2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2KLD, 2KLE, 2KQ6, 2Y4Q, 3HRN, 3HRO
Identifiers
Aliases	PKD2, APC2, PKD4, Pc-2, TRPP2, Polycystic kidney disease 2, polycystin 2, transient receptor potential cation channel
External IDs	OMIM: 173910 MGI: 1099818 HomoloGene: 20104 GeneCards: PKD2
Gene location (Human) Chr. Chromosome 4 (human)[1] Band 4q22.1 Start 88,007,635 bp[1] End 88,077,777 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5 E5|5 50.68 cM Start 104,459,450 bp[2] End 104,505,819 bp[2]
Gene ontology Molecular function • ion channel binding • cytoskeletal protein binding • receptor binding • muscle alpha-actinin binding • metal ion binding • HLH domain binding • voltage-gated cation channel activity • protein homodimerization activity • calcium-induced calcium release activity • channel activity • GO:0001948 protein binding • actinin binding • voltage-gated calcium channel activity • calcium channel activity • phosphoprotein binding • alpha-actinin binding • identical protein binding • ATPase binding • calcium ion binding • outward rectifier potassium channel activity • voltage-gated sodium channel activity • voltage-gated potassium channel activity • potassium channel activity • voltage-gated ion channel activity Cellular component • filamentous actin • membrane • integral component of cytoplasmic side of endoplasmic reticulum membrane • cell projection • extracellular exosome • lamellipodium • integral component of membrane • basal plasma membrane • integral component of lumenal side of endoplasmic reticulum membrane • ciliary membrane • polycystin complex • cilium • cell membrane • intercellular junction • ciliary basal body • endoplasmic reticulum • basal cortex • mitotic spindle • cytoplasm • motile cilium • non-motile cilium • integral component of plasma membrane • endoplasmic reticulum membrane • basolateral plasma membrane • cytoplasmic vesicle membrane • cytoplasmic vesicle Biological process • regulation of calcium ion import • cellular response to osmotic stress • negative regulation of G1/S transition of mitotic cell cycle • heart looping • metanephric S-shaped body morphogenesis • negative regulation of cell proliferation • mesonephric tubule development • renal system development • metanephric cortex development • kidney development • cytoplasmic sequestering of transcription factor • ion transport • metanephric ascending thin limb development • branching involved in ureteric bud morphogenesis • neural tube development • spinal cord development • metanephric distal tubule development • centrosome duplication • cellular calcium ion homeostasis • determination of liver left/right asymmetry • cellular response to fluid shear stress • aorta development • cellular response to hydrostatic pressure • metanephric mesenchyme development • renal artery morphogenesis • metanephric cortical collecting duct development • mesonephric duct development • positive regulation of cytosolic calcium ion concentration • positive regulation of nitric oxide biosynthetic process • cellular response to reactive oxygen species • positive regulation of gene expression • metanephric part of ureteric bud development • regulation of cell proliferation • metanephric smooth muscle tissue development • positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity • positive regulation of transcription from RNA polymerase II promoter • positive regulation of cell cycle arrest • heart development • JAK-STAT cascade • detection of mechanical stimulus • embryonic placenta development • detection of nodal flow • liver development • cell cycle arrest • placenta blood vessel development • renal tubule morphogenesis • determination of left/right symmetry • postsynaptic potential • negative regulation of ryanodine-sensitive calcium-release channel activity • calcium ion transport • release of sequestered calcium ion into cytosol • calcium ion transmembrane transport • cellular response to calcium ion • sodium ion transmembrane transport • protein homotetramerization • cellular response to cAMP • potassium ion transmembrane transport • potassium ion transport • regulation of ion transmembrane transport • transport Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	5311	18764
Ensembl	ENSG00000118762	ENSMUSG00000034462
UniProt	Q13563	O35245
RefSeq (mRNA)	NM_000297	NM_008861
RefSeq (protein)	NP_000288	NP_032887
Location (UCSC)	Chr 4: 88.01 – 88.08 Mb	Chr 5: 104.46 – 104.51 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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 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.

Illustration of PKD1 and PKD2 proteins at the cell membrane

Clinical significance

Mutations in this gene have been associated with autosomal dominant polycystic kidney disease.[6]

Interactions

Polycystin 2 has been shown to interact with the proteins TRPC1,[7] PKD1[7][8] and TNNI3.[9]

See also

• HAX1
• TRPP

References

1. GRCh38: Ensembl release 89: ENSG00000118762 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000034462 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Peters DJ, Spruit L, Saris JJ, Ravine D, Sandkuijl LA, Fossdal R, Boersma J, van Eijk R, Norby S, Constantinou-Deltas CD, et al. (March 1994). "Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease". Nat Genet. 5 (4): 359–62. doi:10.1038/ng1293-359. PMID 8298643. S2CID 5634589.
6. "Entrez Gene: PKD2 polycystic kidney disease 2 (autosomal dominant)".
7. Tsiokas, L; Arnould T; Zhu C; Kim E; Walz G; Sukhatme V P (March 1999). "Specific association of the gene product of PKD2 with the TRPC1 channel". Proc. Natl. Acad. Sci. U.S.A. UNITED STATES. 96 (7): 3934–9. Bibcode:1999PNAS...96.3934T. doi:10.1073/pnas.96.7.3934. ISSN 0027-8424. PMC 22398. PMID 10097141.
8. Tsiokas, L; Kim E; Arnould T; Sukhatme V P; Walz G (June 1997). "Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2". Proc. Natl. Acad. Sci. U.S.A. UNITED STATES. 94 (13): 6965–70. Bibcode:1997PNAS...94.6965T. doi:10.1073/pnas.94.13.6965. ISSN 0027-8424. PMC 21268. PMID 9192675.
9. Li, Qiang; Shen Patrick Y; Wu Guanqing; Chen Xing-Zhen (January 2003). "Polycystin-2 interacts with troponin I, an angiogenesis inhibitor". Biochemistry. United States. 42 (2): 450–7. doi:10.1021/bi0267792. ISSN 0006-2960. PMID 12525172.

Further reading

• Islam, Md. Shahidul (January 2011). Transient Receptor Potential Channels. Advances in Experimental Medicine and Biology. 704. Berlin: Springer. p. 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. S2CID 9719193.
• 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. S2CID 11511861.
• 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" (PDF). 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. Bibcode:1996Sci...272.1339M. doi:10.1126/science.272.5266.1339. PMID 8650545. S2CID 28192819.
• 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.
• 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. S2CID 32450405.
• 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. Bibcode:1997PNAS...94.6965T. doi:10.1073/pnas.94.13.6965. PMC 21268. PMID 9192675.
• 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.
• 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. S2CID 22047464.
• 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.

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.