Adverts

Open Access Articles- Top Results for Polycystic kidney disease 2

Polycystic kidney disease 2

Template:Infobox3cols/rowTemplate:Infobox3cols/rowTemplate:Infobox3cols/rowTemplate:Infobox3cols/rowTemplate:Infobox3cols/row
Identifiers
SymbolsPKD2 ; APKD2; PC2; PKD4; Pc-2; TRPP2
External IDsOMIM173910 MGI1099818 HomoloGene20104 IUPHAR: 504 ChEMBL: 5465 GeneCards: PKD2 Gene
Orthologs
SpeciesHumanMouse
Entrez531118764
EnsemblENSG00000118762ENSMUSG00000034462
UniProtQ13563O35245
RefSeq (mRNA)NM_000297NM_008861
RefSeq (protein)NP_000288NP_032887
Location (UCSC)Chr 4:
88.93 – 89 Mb
Chr 5:
104.46 – 104.51 Mb
PubMed search[1][2]

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 homoeostasis 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

Polycystic kidney disease 2 has been shown to interact with 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. (Mar 1994). "Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease". Nat Genet 5 (4): 359–62. PMID 8298643. doi:10.1038/ng1293-359. 
  2. ^ a b "Entrez Gene: PKD2 polycystic kidney disease 2 (autosomal dominant)". 
  3. ^ a b Tsiokas, L; Arnould T; Zhu C; Kim E; Walz G; Sukhatme V P (Mar 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. ISSN 0027-8424. PMC 22398. PMID 10097141. doi:10.1073/pnas.96.7.3934. 
  4. ^ Tsiokas, L; Kim E; Arnould T; Sukhatme V P; Walz G (Jun 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. ISSN 0027-8424. PMC 21268. PMID 9192675. doi:10.1073/pnas.94.13.6965. 
  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. ISSN 0006-2960. PMID 12525172. doi:10.1021/bi0267792. 

External links

Further reading

</dl>


Lua error in package.lua at line 80: module 'Module:Buffer' not found.