Polycystic kidney disease 2
| Polycystic kidney disease 2 (autosomal dominant) | |||
|---|---|---|---|
| Identifiers | |||
| Symbols | PKD2 ; PC2; APKD2; MGC138466; MGC138468; PKD4 | ||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 20104 | ||
| Orthologs | |||
| Template:GNF Ortholog box | |||
| Species | Human | Mouse | |
| Entrez | n/a | n/a | |
| Ensembl | n/a | n/a | |
| UniProt | n/a | n/a | |
| RefSeq (mRNA) | n/a | n/a | |
| RefSeq (protein) | n/a | n/a | |
| Location (UCSC) | n/a | n/a | |
| PubMed search | n/a | n/a | |
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Overview
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.