PKD2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesPKD2, APC2, PKD4, Pc-2, TRPP2, Polycystic kidney disease 2, polycystin 2, transient receptor potential cation channel
External IDsOMIM: 173910 MGI: 1099818 HomoloGene: 20104 GeneCards: PKD2
Orthologs
SpeciesHumanMouse
Entrez

5311

18764

Ensembl

ENSG00000118762

ENSMUSG00000034462

UniProt

Q13563

O35245

RefSeq (mRNA)

NM_000297

NM_008861

RefSeq (protein)

NP_000288

NP_032887

Location (UCSC)Chr 4: 88.01 – 88.08 MbChr 5: 104.61 – 104.65 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Polycystin-2 (PC2)[5] is a protein that in humans is encoded by the PKD2 gene.[6][7][8]

The gene PKD2 also known as TRPP2, encodes a member of the polycystin protein family, called TRPP, and 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.

Illustration of PKD1 and PKD2 proteins at the cell membrane
Illustration of PKD1 and PKD2 proteins at the cell membrane

Clinical significance

Mutations in this gene have been associated with autosomal dominant polycystic kidney disease.[8]

Interactions

Polycystin 2 has been shown to interact with the proteins TRPC1,[9] PKD1[9][10] and TNNI3.[11]

See also

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000118762 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000034462 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ↑ "PKD2 polycystin 2, transient receptor potential cation channel [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 16 November 2022.
  6. ↑ Kimberling WJ, Kumar S, Gabow PA, Kenyon JB, Connolly CJ, Somlo S (December 1993). "Autosomal dominant polycystic kidney disease: localization of the second gene to chromosome 4q13-q23". Genomics. 18 (3): 467–472. doi:10.1016/s0888-7543(11)80001-7. PMID 8307555.
  7. ↑ Peters DJ, Spruit L, Saris JJ, Ravine D, Sandkuijl LA, Fossdal R, et al. (December 1993). "Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease". Nature Genetics. 5 (4): 359–362. doi:10.1038/ng1293-359. PMID 8298643. S2CID 5634589.
  8. 1 2 "Entrez Gene: PKD2 polycystic kidney disease 2 (autosomal dominant)".
  9. 1 2 Tsiokas L, Arnould T, Zhu C, Kim E, Walz G, Sukhatme VP (March 1999). "Specific association of the gene product of PKD2 with the TRPC1 channel". Proceedings of the National Academy of Sciences of the United States of America. 96 (7): 3934–3939. Bibcode:1999PNAS...96.3934T. doi:10.1073/pnas.96.7.3934. PMC 22398. PMID 10097141.
  10. ↑ Tsiokas L, Kim E, Arnould T, Sukhatme VP, Walz G (June 1997). "Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2". Proceedings of the National Academy of Sciences of the United States of America. 94 (13): 6965–6970. Bibcode:1997PNAS...94.6965T. doi:10.1073/pnas.94.13.6965. PMC 21268. PMID 9192675.
  11. ↑ Li Q, Shen PY, Wu G, Chen XZ (January 2003). "Polycystin-2 interacts with troponin I, an angiogenesis inhibitor". Biochemistry. 42 (2): 450–457. doi:10.1021/bi0267792. PMID 12525172.

Further reading

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