PKD2L1
| Polycystic kidney disease 2-like 1 | |||||||||||
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| Identifiers | |||||||||||
| Symbols | PKD2L1 ; PCL; PKD2L; PKDL | ||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 22946 | ||||||||||
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| RNA expression pattern | |||||||||||
| File:PBB GE PKD2L1 221061 at tn.png | |||||||||||
| More reference expression data | |||||||||||
| Orthologs | |||||||||||
| Template:GNF Ortholog box | |||||||||||
| Species | Human | Mouse | |||||||||
| Entrez | n/a | n/a | |||||||||
| Ensembl | n/a | n/a | |||||||||
| UniProt | n/a | n/a | |||||||||
| RefSeq (mRNA) | n/a | n/a | |||||||||
| RefSeq (protein) | n/a | n/a | |||||||||
| Location (UCSC) | n/a | n/a | |||||||||
| PubMed search | n/a | n/a | |||||||||
Polycystic kidney disease 2-like 1, also known as PKD2L1, is a human gene.[1]
This gene encodes a member of the polycystin protein family. The encoded protein contains multiple transmembrane domains, and cytoplasmic N- and C-termini. The protein may be an integral membrane protein involved in cell-cell/matrix interactions. This protein functions as a calcium-regulated nonselective cation channel. Alternative splice variants have been described but their full length sequences have not been determined.[1]
References
Further reading
- Geng L, Okuhara D, Yu Z; et al. (2006). "Polycystin-2 traffics to cilia independently of polycystin-1 by using an N-terminal RVxP motif". J. Cell. Sci. 119 (Pt 7): 1383–95. doi:10.1242/jcs.02818. PMID 16537653.
- Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
- Li Q, Liu Y, Shen PY; et al. (2003). "Troponin I binds polycystin-L and inhibits its calcium-induced channel activation". Biochemistry. 42 (24): 7618–25. doi:10.1021/bi034210a. PMID 12809519.
- Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
- Li Q, Liu Y, Zhao W, Chen XZ (2002). "The calcium-binding EF-hand in polycystin-L is not a domain for channel activation and ensuing inactivation". FEBS Lett. 516 (1–3): 270–8. PMID 11959145.
- Basora N, Nomura H, Berger UV; et al. (2002). "Tissue and cellular localization of a novel polycystic kidney disease-like gene product, polycystin-L". J. Am. Soc. Nephrol. 13 (2): 293–301. PMID 11805156.
- Stayner C, Zhou J (2001). "Polycystin channels and kidney disease". Trends Pharmacol. Sci. 22 (11): 543–6. PMID 11698076.
- Guo L, Chen M, Basora N, Zhou J (2000). "The human polycystic kidney disease 2-like (PKDL) gene: exon/intron structure and evidence for a novel splicing mechanism". Mamm. Genome. 11 (1): 46–50. PMID 10602992.
- Veldhuisen B, Spruit L, Dauwerse HG; et al. (2000). "Genes homologous to the autosomal dominant polycystic kidney disease genes (PKD1 and PKD2)". Eur. J. Hum. Genet. 7 (8): 860–72. doi:10.1038/sj.ejhg.5200383. PMID 10602361.
- Chen XZ, Vassilev PM, Basora N; et al. (1999). "Polycystin-L is a calcium-regulated cation channel permeable to calcium ions". Nature. 401 (6751): 383–6. doi:10.1038/43907. PMID 10517637.
- Tsiokas L, Arnould T, Zhu C; et al. (1999). "Specific association of the gene product of PKD2 with the TRPC1 channel". Proc. Natl. Acad. Sci. U.S.A. 96 (7): 3934–9. PMID 10097141.
- Wu G, Hayashi T, Park JH; et al. (1999). "Identification of PKD2L, a human PKD2-related gene: tissue-specific expression and mapping to chromosome 10q25". Genomics. 54 (3): 564–8. doi:10.1006/geno.1998.5618. PMID 9878261.
- Nomura H, Turco AE, Pei Y; et al. (1998). "Identification of PKDL, a novel polycystic kidney disease 2-like gene whose murine homologue is deleted in mice with kidney and retinal defects". J. Biol. Chem. 273 (40): 25967–73. PMID 9748274.
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