Polycystin 2

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Identifiers
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External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
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Polycystin-2 is a protein that in humans is encoded by the PKD2 gene.[1][2]

This gene encodes a member of the polycystin protein family, called TRPP2, previously known as polycystin-2, PC2 or APKD2. TRPP2 contains multiple transmembrane domains, and cytoplasmic N- and C-termini. The protein may be an integral membrane protein involved in cell-cell/matrix interactions. TRPP2 may function in renal tubular development, morphology, and function, and may modulate intracellular calcium homeostasis and other signal transduction pathways. This protein interacts with polycystin 1 (TRPP1) to produce cation-permeable currents. It was discovered by Stefan Somlo at Yale University.

Clinical significance

Mutations in this gene have been associated with autosomal dominant polycystic kidney disease.[2]

Interactions

Polycystin 2 has been shown to interact with the proteins TRPC1,[3] PKD1[3][4] and TNNI3.[5]

See also

References

  1. Peters DJ, Spruit L, Saris JJ, Ravine D, Sandkuijl LA, Fossdal R, Boersma J, van Eijk R, Norby S, Constantinou-Deltas CD, et al. (March 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.
  2. 2.0 2.1 "Entrez Gene: PKD2 polycystic kidney disease 2 (autosomal dominant)".
  3. 3.0 3.1 Tsiokas, L; Arnould T; Zhu C; Kim E; Walz G; Sukhatme V P (March 1999). "Specific association of the gene product of PKD2 with the TRPC1 channel". Proc. Natl. Acad. Sci. U.S.A. UNITED STATES. 96 (7): 3934–9. Bibcode:1999PNAS...96.3934T. doi:10.1073/pnas.96.7.3934. ISSN 0027-8424. PMC 22398. PMID 10097141.
  4. Tsiokas, L; Kim E; Arnould T; Sukhatme V P; Walz G (June 1997). "Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2". Proc. Natl. Acad. Sci. U.S.A. UNITED STATES. 94 (13): 6965–70. Bibcode:1997PNAS...94.6965T. doi:10.1073/pnas.94.13.6965. ISSN 0027-8424. PMC 21268. PMID 9192675.
  5. Li, Qiang; Shen Patrick Y; Wu Guanqing; Chen Xing-Zhen (Jan 2003). "Polycystin-2 interacts with troponin I, an angiogenesis inhibitor". Biochemistry. United States. 42 (2): 450–7. doi:10.1021/bi0267792. ISSN 0006-2960. PMID 12525172.

Further reading

External links




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