PKD2

Polycystic kidney disease 2 (autosomal dominant)
Rendering based on PDB 2KLD​.
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 2KLD​, 2KLE​, 2KQ6​, 2Y4Q​, 3HRN​, 3HRO​
Identifiers
Symbols	PKD2 ; APKD2; PC2; PKD4; Pc-2; TRPP2
External IDs	OMIM: 173910 MGI: 1099818 HomoloGene: 20104 IUPHAR: 504 ChEMBL: 5465 GeneCards: PKD2 Gene
Gene ontology Molecular function • receptor binding • voltage-gated ion channel activity • voltage-gated calcium channel activity • voltage-gated sodium channel activity • potassium channel activity • calcium ion binding • protein binding • cytoskeletal protein binding • voltage-gated cation channel activity • identical protein binding • protein homodimerization activity • actinin binding • HLH domain binding • ion channel binding • calcium-induced calcium release activity • ATPase binding • phosphoprotein binding • muscle alpha-actinin binding Cellular component • polycystin complex • cytoplasm • endoplasmic reticulum • endoplasmic reticulum membrane • cytosol • plasma membrane • integral component of plasma membrane • cell-cell junction • cilium • basal plasma membrane • lamellipodium • motile primary cilium • nonmotile primary cilium • filamentous actin • ciliary basal body • basal cortex • ciliary membrane • extracellular exosome • integral component of cytoplasmic side of endoplasmic reticulum membrane • integral component of lumenal side of endoplasmic reticulum membrane • mitotic spindle Biological process • branching involved in ureteric bud morphogenesis • liver development • embryonic placenta development • heart looping • detection of nodal flow • calcium ion transport • cell cycle arrest • JAK-STAT cascade • determination of left/right symmetry • heart development • negative regulation of cell proliferation • spinal cord development • neural tube development • regulation of cAMP metabolic process • positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity • positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle • cellular response to reactive oxygen species • metanephric part of ureteric bud development • sodium ion transmembrane transport • aorta development • regulation of cell proliferation • cytoplasmic sequestering of transcription factor • positive regulation of nitric oxide biosynthetic process • positive regulation of transcription from RNA polymerase II promoter • detection of mechanical stimulus • release of sequestered calcium ion into cytosol • centrosome duplication • negative regulation of ryanodine-sensitive calcium-release channel activity • placenta blood vessel development • renal tubule morphogenesis • renal artery morphogenesis • calcium ion transmembrane transport • positive regulation of cell cycle arrest • cellular response to hydrostatic pressure • cellular response to osmotic stress • cellular response to fluid shear stress • potassium ion transmembrane transport • determination of liver left/right asymmetry • metanephric mesenchyme development • mesonephric tubule development • mesonephric duct development • metanephric smooth muscle tissue development • metanephric cortex development • metanephric ascending thin limb development • metanephric cortical collecting duct development • metanephric distal tubule development • metanephric S-shaped body morphogenesis • regulation of calcium ion import • negative regulation of G1/S transition of mitotic cell cycle 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

Polycystin-2 is a protein that in humans is encoded by the PKD2 gene.^[1][2]

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. It was discovered by Stefan Somlo at Yale University.

Clinical significance

Mutations in this gene have been associated with autosomal dominant polycystic kidney disease.^[2]

Interactions

Polycystic kidney disease 2 has been shown to interact with TRPC1,^[3] PKD1^[3][4] and TNNI3.^[5]

See also

• TRPP
• HAX1

References

1. Peters DJ, Spruit L, Saris JJ, Ravine D, Sandkuijl LA, Fossdal R, Boersma J, van Eijk R, Norby S, Constantinou-Deltas CD; et al. (Mar 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.
2. "Entrez Gene: PKD2 polycystic kidney disease 2 (autosomal dominant)".
3. Tsiokas, L; Arnould T; Zhu C; Kim E; Walz G; Sukhatme V P (Mar 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. doi:10.1073/pnas.96.7.3934. ISSN 0027-8424. PMC 22398. PMID 10097141.
4. Tsiokas, L; Kim E; Arnould T; Sukhatme V P; Walz G (Jun 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. doi:10.1073/pnas.94.13.6965. ISSN 0027-8424. PMC 21268. PMID 9192675.
5. Li, Qiang; Shen Patrick Y; Wu Guanqing; Chen Xing-Zhen (Jan 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.

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.

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.
• 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.
• 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.
• 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.
• 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.