Polycystine-2
| Polycystine-2 | ||
|---|---|---|
| Properties of human protein | ||
| Mass / length primary structure | 968 amino acids; 110 kDa | |
| Secondary to quaternary structure | Cation channel | |
| Identifier | ||
| Gene name | PKD-2 | |
| External IDs | ||
| Transporter classification | ||
| TCDB | 1.A.5 | |
| designation | Polycystine cation channel | |
| Orthologue | ||
| human | mouse | |
| Entrez | 5311 | 18764 |
| Ensemble | ENSG00000118762 | ENSMUSG00000034462 |
| UniProt | Q13563 | Q7TSI7 |
| Refseq (mRNA) | NM_000297 | XM_984803 |
| Refseq (protein) | NP_000288 | XP_989897 |
| Gene locus | Chr 4: 89.15 - 89.22 Mb | Chr 5: 104.7 - 104.75 Mb |
| PubMed search | 5311 |
18764
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Polycystin-2 (PKD2) is a glycoprotein , which in the body of many vertebrates from PKD2 - gene is encoded. It plays an important role in the cystic kidney disease .
construction
Polycystin-2 consists of 968 amino acids and has a molecular mass of about 110 kDa . The structure of polycystin-2 can be broken down as follows:
- an intracellular N-terminal region
- six transmembrane domains
- a calcium binding region ( EF hand )
- an intracellular C-terminal region
There is a high degree of sequence similarity to polycystin-1 and the family of voltage-dependent calcium channels .
function
The C-termini of polycystin-1 and polycystin-2 interact. In this interaction, polycystin-2 acts as a cation channel, which is preferred for calcium ions, and is apparently regulated by polycystin-1.
genetics
In humans, polycystin-2 is encoded by the PKD2 gene ( polycystic kidney disease 2 (autosomal dominant) ) on chromosome 4 gene locus q21-q23.
Individual evidence
- ↑ C. Stayner, J. Zhou: Polycystin channels and kidney disease. In: Trends in Pharmacological Sciences . 22, 2001, pp. 543-546. PMID 11698076
- ↑ JP Calvet: Molecular genetics of polycystic kidney disease. In: J Nephrol. 11, 1998, pp. 24-34. PMID 9561482
- ↑ T. Mochizuki et al: PKD 2, a gene for polycystic kidney disease that encodes an integral membrane protein. In: Science . 272, 1996, pp. 1339-1342. PMID 8650545
- ↑ F. Qian, FJ Germino, Y. Cai, X. Zhang, S. Somlo, GG Germino: PKD interacts with PKD2 through a probable coiled-coil domain. In: Nature Genet . 16, 1997, pp. 179-183.
- ↑ M. Sutter, GG Germino: Autosomal dominant polycystic kidney disease: Molecular genetics and pathophysiology. In: J Lab Clin Med. 141, 2003, pp. 91-106. PMID
- ↑ S. Helmig: Population genetic analysis on the PKD 1 gene in cats with regard to polycystic syndrome. Dissertation. Justus Liebig University, Giessen 2005.
- ↑ National Center for Biotechnology Information: PKD2 polycystic kidney disease 2 (autosomal dominant) (Homo sapiens) accessed October 3, 2008.
literature
- PD Wilson: Polycystin: new aspects of structure, function, and regulation. In: J. Am. Soc. Nephrol. 12, 2001, pp. 834-845. PMID 11274246
- A. Boletta, GG Germino: Role of polycystins in renal tubulogenesis. In: Trends Cell Biol . 13, 2004, pp. 484-492. PMID 12946628
- ACM Ong et al .: Coordinate Expression of the Autosomal Dominant Polycystic Kidney Disease Proteins, Polycystin-2 And Polycystin-1, in Normal and Cystic Tissue. In: Am J Pathol . 154, 1999, pp. 1721-1729. PMID 10362797