PKD2L1

PKD2L1
Identifiers
Aliases	PKD2L1, PCL, PKD2L, PKDL, TRPP3, polycystin 2 like 1, transient receptor potential cation channel
External IDs	OMIM: 604532; MGI: 1352448; HomoloGene: 22946; GeneCards: PKD2L1; OMA:PKD2L1 - orthologs
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3TE3, 4GIF
Gene location (Human) Chr. Chromosome 10 (human) Band 10q24.31 Start 100,288,149 bp End 100,330,264 bp
Gene location (Mouse) Chr. Chromosome 19 (mouse) Band 19 C3|19 36.91 cM Start 44,136,076 bp End 44,180,881 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in spleen right frontal lobe Brodmann area 9 sperm glomerulus right lung anterior cingulate cortex prefrontal cortex placenta mononuclear cell Top expressed in lumbar subsegment of spinal cord spermatocyte seminiferous tubule embryo embryo anterior horn of spinal cord tongue vallate papilla gastrula spermatid More reference expression data BioGPS More reference expression data
Gene ontology Molecular function calcium ion binding calcium activated cation channel activity muscle alpha-actinin binding calcium channel activity cation transmembrane transporter activity calcium-activated potassium channel activity sodium channel activity cytoskeletal protein binding protein binding alpha-actinin binding cation channel activity identical protein binding sour taste receptor activity Cellular component integral component of membrane cell projection calcium channel complex membrane intracellular membrane-bounded organelle receptor complex plasma membrane cilium cell surface endoplasmic reticulum ciliary membrane cation channel complex non-motile cilium integral component of plasma membrane cytoplasmic vesicle Biological process sodium ion transmembrane transport cellular response to acidic pH cation transport sensory perception of sour taste ion transport protein homotrimerization calcium ion transmembrane transport detection of mechanical stimulus potassium ion transmembrane transport smoothened signaling pathway detection of chemical stimulus involved in sensory perception of sour taste calcium ion transport response to water detection of chemical stimulus involved in sensory perception of taste protein tetramerization protein homotetramerization cellular response to pH inorganic cation transmembrane transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 9033 329064 Ensembl ENSG00000107593 ENSMUSG00000037578 UniProt Q9P0L9 A2A259 RefSeq (mRNA) NM_001253837 NM_016112 NM_181422 RefSeq (protein) NP_001240766 NP_057196 NP_852087 Location (UCSC) Chr 10: 100.29 – 100.33 Mb Chr 19: 44.14 – 44.18 Mb PubMed search
Wikidata
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Polycystic kidney disease 2-like 1 protein also known as transient receptor potential polycystic 2 (TRPP2; formerly TRPP3) is a protein that in humans is encoded by the PKD2L1 gene.

Function

TRPP2 is a member of the polycystin protein family. TRPP2 contains multiple transmembrane domains, and cytoplasmic N- and C-termini. TRPP2 may be an integral membrane protein involved in cell-cell/matrix interactions. TRPP2 functions as a calcium-regulated nonselective cation channel. Alternative splice variants have been described but their full length sequences have not been determined.

Interactions

PKD2L1 has been shown to interact with TNNI3.

See also

• TRPP

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. PMC 528928. 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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. 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. doi:10.1016/S0014-5793(02)02513-9. PMID 11959145. S2CID 1812119.
• 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. doi:10.1681/ASN.V132293. PMID 11805156.
• Stayner C, Zhou J (2001). "Polycystin channels and kidney disease". Trends Pharmacol. Sci. 22 (11): 543–6. doi:10.1016/S0165-6147(00)01832-0. 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. doi:10.1007/s003350010009. PMID 10602992. S2CID 27177354.
• 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. S2CID 4412921.
• 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. Bibcode:1999PNAS...96.3934T. doi:10.1073/pnas.96.7.3934. PMC 22398. 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. doi:10.1074/jbc.273.40.25967. PMID 9748274.