PKD2L1

From Wikipedia, the free encyclopedia

Polycystic kidney disease 2-like 1

Identifiers

PKD2L1; PCL; PKD2L; PKDL

External IDs

OMIM: 604532 MGI: 1352448 HomoloGene: 22946

Gene ontology
Molecular Function:	• calcium activated cation channel activity • calcium ion binding • cytoskeletal protein binding
Cellular Component:	• endoplasmic reticulum • plasma membrane • membrane • integral to membrane
Biological Process:	• cation transport • signal transduction

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

n/a

Refseq

NM_016112 (mRNA)
NP_057196 (protein)

NM_181422 (mRNA)
NP_852087 (protein)

Location

Chr 10: 102.04 - 102.08 Mb

Chr 19: 44.2 - 44.25 Mb

Pubmed search

[1]

[2]

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]

[edit] References

^ ^a ^b Entrez Gene: PKD2L1 polycystic kidney disease 2-like 1.

[edit] 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.