Polycystic kidney disease 2

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Polycystic kidney disease 2 (autosomal dominant)
Identifiers
Symbol(s) PKD2; PC2; APKD2; MGC138466; MGC138468; PKD4
External IDs OMIM: 173910 MGI: 1099818 Homologene: 20104
Orthologs
Human Mouse
Entrez 5311 18764
Ensembl ENSG00000118762 ENSMUSG00000034462
Uniprot Q13563 Q7TSI7
Refseq NM_000297 (mRNA)
NP_000288 (protein) 		XM_984803 (mRNA)
XP_989897 (protein)
Location Chr 4: 89.15 - 89.22 Mb Chr 5: 104.7 - 104.75 Mb
Pubmed search [1] [2]

Polycystic kidney disease 2 (autosomal dominant), also known as PKD2, is a human gene.[1]


This gene encodes a member of the polycystin protein family. The encoded protein contains multiple transmembrane domains, and cytoplasmic N- and C-termini. The protein may be an integral membrane protein involved in cell-cell/matrix interactions. The encoded protein 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 to produce cation-permeable currents. Mutations in this gene have been associated with autosomal dominant polycystic kidney disease.[1]


See also

References

Further reading

  • Torres VE (1998). "New insights into polycystic kidney disease and its treatment.". Curr. Opin. Nephrol. Hypertens. 7 (2): 159-69. 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. 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 (179): 363-75. doi:10.1007/978-3-540-34891-7_22. 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.
  • Peters DJ, Spruit L, Saris JJ, et al. (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.
  • 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. 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. 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. 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. 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. 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. 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.
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Acknowledgement and Attribution Regarding Sources of Content

Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .

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