Polycystic kidney disease 2

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Polycystic kidney disease 2 (autosomal dominant)
Identifiers
Symbols PKD2 ; PC2; APKD2; MGC138466; MGC138468; PKD4
External IDs OMIM: 173910 MGI1099818 HomoloGene20104
Orthologs

| | bgcolor="#C3FDB8" | Human | bgcolor="#C3FDB8" | Mouse |-

    | bgcolor="#C3FDB8" | Entrez 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| 5311
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| 18764

|-

     | bgcolor="#C3FDB8" | Ensembl
     | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| ENSG00000118762
     | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| ENSMUSG00000034462

|-

    | bgcolor="#C3FDB8" | Uniprot
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| Q13563
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| Q7TSI7

|-

    | bgcolor="#C3FDB8" | Refseq
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd" | NM_000297 (mRNA)
NP_000288 (protein)
| bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd" |XM_984803 (mRNA)
XP_989897 (protein)

|-

    | bgcolor="#C3FDB8" | Location
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"|  Chr 4: 89.15 - 89.22 Mb 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"|  Chr 5: 104.7 -  104.75 Mb 

|-

|-

    | bgcolor="#C3FDB8" | Pubmed search 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| [1]
| bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| [2]
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

  1. 1.0 1.1 "Entrez Gene: PKD2 polycystic kidney disease 2 (autosomal dominant)".

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.

Cost Effectiveness of Polycystic kidney disease 2

| group5 = Clinical Trials Involving Polycystic kidney disease 2 | list5 = Ongoing Trials on Polycystic kidney disease 2 at Clinical Trials.govTrial results on Polycystic kidney disease 2Clinical Trials on Polycystic kidney disease 2 at Google


| group6 = Guidelines / Policies / Government Resources (FDA/CDC) Regarding Polycystic kidney disease 2 | list6 = US National Guidelines Clearinghouse on Polycystic kidney disease 2NICE Guidance on Polycystic kidney disease 2NHS PRODIGY GuidanceFDA on Polycystic kidney disease 2CDC on Polycystic kidney disease 2


| group7 = Textbook Information on Polycystic kidney disease 2 | list7 = Books and Textbook Information on Polycystic kidney disease 2


| group8 = Pharmacology Resources on Polycystic kidney disease 2 | list8 = AND (Dose)}} Dosing of Polycystic kidney disease 2AND (drug interactions)}} Drug interactions with Polycystic kidney disease 2AND (side effects)}} Side effects of Polycystic kidney disease 2AND (Allergy)}} Allergic reactions to Polycystic kidney disease 2AND (overdose)}} Overdose information on Polycystic kidney disease 2AND (carcinogenicity)}} Carcinogenicity information on Polycystic kidney disease 2AND (pregnancy)}} Polycystic kidney disease 2 in pregnancyAND (pharmacokinetics)}} Pharmacokinetics of Polycystic kidney disease 2


| group9 = Genetics, Pharmacogenomics, and Proteinomics of Polycystic kidney disease 2 | list9 = AND (pharmacogenomics)}} Genetics of Polycystic kidney disease 2AND (pharmacogenomics)}} Pharmacogenomics of Polycystic kidney disease 2AND (proteomics)}} Proteomics of Polycystic kidney disease 2


| group10 = Newstories on Polycystic kidney disease 2 | list10 = Polycystic kidney disease 2 in the newsBe alerted to news on Polycystic kidney disease 2News trends on Polycystic kidney disease 2


| group11 = Commentary on Polycystic kidney disease 2 | list11 = Blogs on Polycystic kidney disease 2

| group12 = Patient Resources on Polycystic kidney disease 2 | list12 = Patient resources on Polycystic kidney disease 2Discussion groups on Polycystic kidney disease 2Patient Handouts on Polycystic kidney disease 2Directions to Hospitals Treating Polycystic kidney disease 2Risk calculators and risk factors for Polycystic kidney disease 2


| group13 = Healthcare Provider Resources on Polycystic kidney disease 2 | list13 = Symptoms of Polycystic kidney disease 2Causes & Risk Factors for Polycystic kidney disease 2Diagnostic studies for Polycystic kidney disease 2Treatment of Polycystic kidney disease 2

| group14 = Continuing Medical Education (CME) Programs on Polycystic kidney disease 2 | list14 = CME Programs on Polycystic kidney disease 2

| group15 = International Resources on Polycystic kidney disease 2 | list15 = Polycystic kidney disease 2 en EspanolPolycystic kidney disease 2 en Francais

| group16 = Business Resources on Polycystic kidney disease 2 | list16 = Polycystic kidney disease 2 in the MarketplacePatents on Polycystic kidney disease 2

| group17 = Informatics Resources on Polycystic kidney disease 2 | list17 = List of terms related to Polycystic kidney disease 2


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