Polycystic kidney disease 2

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Polycystic kidney disease 2 (autosomal dominant)
Protein PKD2 PDB 2KLD.png
Rendering based on PDB 2KLD.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols PKD2 ; APKD2; PC2; PKD4; Pc-2; TRPP2
External IDs OMIM173910 MGI1099818 HomoloGene20104 IUPHAR: TRPP1 ChEMBL: 5465 GeneCards: PKD2 Gene
Orthologs
Species Human Mouse
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:
88.93 – 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.

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.[2]

Interactions[edit]

Polycystic kidney disease 2 has been shown to interact with TRPC1,[3] PKD1[3][4] and TNNI3.[5]

See also[edit]

References[edit]

  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. doi:10.1038/ng1293-359. PMID 8298643. 
  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. 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 (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. 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. 

External links[edit]

Further reading[edit]