This page uses content from Wikipedia and is licensed under CC BY-SA.

Polycystin 2

PKD2
5mke.jpg
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
Gene location (Human)
Chromosome 4 (human)
Chr.Chromosome 4 (human)[1]
Chromosome 4 (human)
Genomic location for PKD2
Genomic location for PKD2
Band4q22.1Start88,007,635 bp[1]
End88,077,777 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000297

NM_008861

RefSeq (protein)

NP_000288

NP_032887

Location (UCSC)Chr 4: 88.01 – 88.08 MbChr 5: 104.46 – 104.51 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Polycystin-2 is a protein that in humans is encoded by the PKD2 gene.[5][6]

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.

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.[6]

Interactions

Polycystin 2 has been shown to interact with the proteins TRPC1,[7] PKD1[7][8] and TNNI3.[9]

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000118762 - Ensembl, May 2017
  2. ^ a b c 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. ^ 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.
  6. ^ a b "Entrez Gene: PKD2 polycystic kidney disease 2 (autosomal dominant)".
  7. ^ a b 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.
  8. ^ 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.
  9. ^ Li, Qiang; Shen Patrick Y; Wu Guanqing; Chen Xing-Zhen (January 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