Polycystic kidney disease 2

Polycystic kidney disease 2

Polycystic kidney disease 2 (autosomal dominant), also known as PKD2, is a human gene.cite web | title = Entrez Gene: PKD2 polycystic kidney disease 2 (autosomal dominant)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5311| accessdate = ]

PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: PKD2 polycystic kidney disease 2 (autosomal dominant)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5311| accessdate = ]

ee also

* TRPP

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Torres VE |title=New insights into polycystic kidney disease and its treatment. |journal=Curr. Opin. Nephrol. Hypertens. |volume=7 |issue= 2 |pages= 159–69 |year= 1998 |pmid= 9529618 |doi=
*cite journal | author=Deltas CC |title=Mutations of the human polycystic kidney disease 2 (PKD2) gene. |journal=Hum. Mutat. |volume=18 |issue= 1 |pages= 13–24 |year= 2001 |pmid= 11438989 |doi= 10.1002/humu.1145
*cite journal | author=Boletta A, Germino GG |title=Role of polycystins in renal tubulogenesis. |journal=Trends Cell Biol. |volume=13 |issue= 9 |pages= 484–92 |year= 2004 |pmid= 12946628 |doi=
*cite journal | author=Cantiello HF |title=Regulation of calcium signaling by polycystin-2. |journal=Am. J. Physiol. Renal Physiol. |volume=286 |issue= 6 |pages= F1012–29 |year= 2004 |pmid= 15130895 |doi= 10.1152/ajprenal.00181.2003
*cite journal | author=Everson GT, Taylor MR, Doctor RB |title=Polycystic disease of the liver. |journal=Hepatology |volume=40 |issue= 4 |pages= 774–82 |year= 2004 |pmid= 15382167 |doi= 10.1002/hep.20431
*cite journal | author=Witzgall R |title=TRPP2 channel regulation. |journal=Handb Exp Pharmacol |volume= |issue= 179 |pages= 363–75 |year= 2007 |pmid= 17217069 |doi= 10.1007/978-3-540-34891-7_22
*cite journal | author=Köttgen M |title=TRPP2 and autosomal dominant polycystic kidney disease. |journal=Biochim. Biophys. Acta |volume=1772 |issue= 8 |pages= 836–50 |year= 2007 |pmid= 17292589 |doi= 10.1016/j.bbadis.2007.01.003
*cite journal | author=Peters DJ, Spruit L, Saris JJ, "et al." |title=Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease. |journal=Nat. Genet. |volume=5 |issue= 4 |pages= 359–62 |year= 1994 |pmid= 8298643 |doi= 10.1038/ng1293-359
*cite journal | author=Andersson B, Wentland MA, Ricafrente JY, "et al." |title=A "double adaptor" method for improved shotgun library construction. |journal=Anal. Biochem. |volume=236 |issue= 1 |pages= 107–13 |year= 1996 |pmid= 8619474 |doi= 10.1006/abio.1996.0138
*cite journal | author=Mochizuki T, Wu G, Hayashi T, "et al." |title=PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. |journal=Science |volume=272 |issue= 5266 |pages= 1339–42 |year= 1996 |pmid= 8650545 |doi=
*cite journal | author=Schneider MC, Rodriguez AM, Nomura H, "et al." |title=A gene similar to PKD1 maps to chromosome 4q22: a candidate gene for PKD2. |journal=Genomics |volume=38 |issue= 1 |pages= 1–4 |year= 1997 |pmid= 8954772 |doi= 10.1006/geno.1996.0584
*cite journal | author=Yu W, Andersson B, Worley KC, "et al." |title=Large-scale concatenation cDNA sequencing. |journal=Genome Res. |volume=7 |issue= 4 |pages= 353–8 |year= 1997 |pmid= 9110174 |doi=
*cite journal | author=Qian F, Germino FJ, Cai Y, "et al." |title=PKD1 interacts with PKD2 through a probable coiled-coil domain. |journal=Nat. Genet. |volume=16 |issue= 2 |pages= 179–83 |year= 1997 |pmid= 9171830 |doi= 10.1038/ng0697-179
*cite journal | author=Xenophontos S, Constantinides R, Hayashi T, "et al." |title=A translation frameshift mutation induced by a cytosine insertion in the polycystic kidney disease 2 gene (PDK2). |journal=Hum. Mol. Genet. |volume=6 |issue= 6 |pages= 949–52 |year= 1997 |pmid= 9175744 |doi=
*cite journal | author=Tsiokas L, Kim E, Arnould T, "et al." |title=Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=94 |issue= 13 |pages= 6965–70 |year= 1997 |pmid= 9192675 |doi=
*cite journal | author=Hayashi T, Mochizuki T, Reynolds DM, "et al." |title=Characterization of the exon structure of the polycystic kidney disease 2 gene (PKD2). |journal=Genomics |volume=44 |issue= 1 |pages= 131–6 |year= 1997 |pmid= 9286709 |doi= 10.1006/geno.1997.4851
*cite journal | author=Veldhuisen B, Saris JJ, de Haij S, "et al." |title=A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2). |journal=Am. J. Hum. Genet. |volume=61 |issue= 3 |pages= 547–55 |year= 1997 |pmid= 9326320 |doi=
*cite journal | author=Viribay M, Hayashi T, Tellería D, "et al." |title=Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene. |journal=Hum. Genet. |volume=101 |issue= 2 |pages= 229–34 |year= 1998 |pmid= 9402976 |doi=
*cite journal | author=Pei Y, Wang K, Kasenda M, "et al." |title=A novel frameshift mutation induced by an adenosine insertion in the polycystic kidney disease 2 (PKD2) gene. |journal=Kidney Int. |volume=53 |issue= 5 |pages= 1127–32 |year= 1998 |pmid= 9573526 |doi= 10.1046/j.1523-1755.1998.00890.x

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