Polycystic kidney disease 2

From Wikipedia, the free encyclopedia

Polycystic kidney disease 2 (autosomal dominant)

Identifiers

PKD2; PC2; APKD2; MGC138466; MGC138468; PKD4

External IDs

OMIM: 173910 MGI: 1099818 HomoloGene: 20104

Gene ontology
Molecular Function:	• ion channel activity • voltage-gated chloride channel activity • voltage-gated sodium channel activity • calcium ion binding • protein C-terminus binding • cytoskeletal protein binding
Cellular Component:	• plasma membrane • cilium • basal body • actin cytoskeleton • integral to membrane
Biological Process:	• cation transport • calcium ion transport • cellular calcium ion homeostasis • cell cycle arrest • cell-matrix adhesion • JAK-STAT cascade • determination of left/right symmetry • organ morphogenesis • detection of mechanical stimulus during sensory perception

Orthologs

Human

Mouse

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]

[edit] See also

TRPP

[edit] References

^ ^a ^b Entrez Gene: PKD2 polycystic kidney disease 2 (autosomal dominant).

[edit] 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.