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Gene Review

PKD2L1  -  polycystic kidney disease 2-like 1

Homo sapiens

Synonyms: PCL, PKD2L, PKDL, Polycystic kidney disease 2-like 1 protein, Polycystin-2 homolog, ...
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Disease relevance of PKD2L1


Psychiatry related information on PKD2L1

  • They were assessed using the Posttraumatic Stress Disorder Checklist (PCL), the General Health Questionnaire-28 (GHQ-28), and the Multidimensional Health Locus of Control (MHLC) [6].
  • The questionnaire included the General Health Questionnaire (GHQ-12), the post-traumatic stress disorder checklist (PCL), 15 symptoms and an assessment of alcohol intake [7].
  • Instruments included demographic data, the computer-based algorithmic Quick Diagnostic Interview Schedule Symptom, and three symptom checklists, one each for substance related problems (MAST/AD), anxiety and depressive symptoms (BSI-57), and combat-related post-trauma symptoms (PCL/M) [8].

High impact information on PKD2L1

  • These results suggest that PKD1L3 and PKD2L1 heteromers may function as sour taste receptors [9].
  • The specificity of the interaction was demonstrated by the fact that PKD2L, a protein closely related to PKD2, failed to interact with Hax-1 [10].
  • The murine PKD2L1 gene comprises 15 exons in chromosome 19C3 [11].
  • Mutagenesis within two newly identified ER retention signal-like amino acid sequences caused PKD2L1 to be expressed at the cell surface [11].
  • The full-length transcript of PKDL is expressed at high levels in fetal tissues, including kidney and liver, and down-regulated in adult tissues [1].

Biological context of PKD2L1

  • We show that PKDL has 16 exons [12].
  • Elucidation of the gene structure, exact location, and alternative splicing patterns of PKDL will facilitate its evaluation as a candidate gene in cystic or other genetic disorders [12].
  • The positions of introns and the sizes of exons in the PKDL gene are very similar to those of PKD2, except for the last two 3' end exons [12].
  • Whilst the predicted protein domain structure of polycystin-1 suggests it is involved in cell-cell or cell-matrix interactions, the similarity of polycystin-2 and polycystin-L to the pore-forming domains of some cation channels suggests that they all form subunits of a large plasma membrane ion channel [13].
  • Further analysis revealed one novel gene, PKD2L2, located on chromosome band 5q31, and two recently described genes, PKD2L and PKDREJ, located on chromosome bands 10q31 and 22q13.3, respectively [14].

Anatomical context of PKD2L1


Associations of PKD2L1 with chemical compounds

  • In addition to its permeability to Ca2+, K+ and Na+, PCL was highly permeable to NH4+ and Cs+ with a permeability ratio NH4+:Cs+:Na+ of 2.2:1.02:1 [15].
  • We found that PCL is permeable to organic amines, methlyamine (MA, 3.8 A), dimethylamine (DMA, 4.6 A) and triethylamine (TriEA, 6 A), and to tetra-alkylammonium cation (TAA) tetra-methylammonium (TMA, 5.5-6.4 A) [19].
  • PURPOSE: This study aims at developing poly(ethylene oxide)-modified poly(epsilon-caprolactone) (PEO-PCL) nanoparticulate system as an intracellular delivery vehicle for saquinavir, an anti-HIV protease inhibitor [20].
  • Poly (epsilon-caprolactone-co-alpha-iodo-epsilon-caprolactone) was synthesized by binding iodine to PCL chain bearing carbanionic site on alpha-position of carbonyl groups using lithium diisopropylamide [21].
  • Methoxy poly(ethylene glycol) (MPEG)/poly(epsilon-caprolactone) (PCL) diblock copolymers were synthesized by the ring-opening polymerizatrion of epsilon-caprolactone in the presence of a catalyst-free MPEG homopolymer [22].

Other interactions of PKD2L1


Analytical, diagnostic and therapeutic context of PKD2L1

  • PKDL was assigned to 10q24 by fluorescence in situ hybridization and is linked to D10S603 by radiation hybrid mapping [1].
  • RT-PCR demonstrates the existence of at least three polycystin-L splice variants: PKDL(Delta5), PKDL(Delta456), and PKDL(Delta15) that are expressed in a tissue-specific manner [12].
  • Channel activity was substantially increased when either the extracellular or intracellular calcium-ion concentration was raised, indicating that polycystin-L may act as a transducer of calcium-mediated signalling in vivo [23].
  • As the rat appears to be a valuable model for investigating polycystic kidney disease, the characterization of the rat Pkdl gene will help facilitate future studies to elucidate the molecular mechanisms of cystogenesis in this animal model [24].
  • In this study, an anti-peptide polyclonal antiserum was generated against the carboxyl terminal domain of human PCL and used to determine the patterns of expression and distribution of PCL by indirect immunofluorescence in both developing and adult mice [25].


  1. Identification of PKDL, a novel polycystic kidney disease 2-like gene whose murine homologue is deleted in mice with kidney and retinal defects. Nomura, H., Turco, A.E., Pei, Y., Kalaydjieva, L., Schiavello, T., Weremowicz, S., Ji, W., Morton, C.C., Meisler, M., Reeders, S.T., Zhou, J. J. Biol. Chem. (1998) [Pubmed]
  2. The calcium-binding EF-hand in polycystin-L is not a domain for channel activation and ensuing inactivation. Li, Q., Liu, Y., Zhao, W., Chen, X.Z. FEBS Lett. (2002) [Pubmed]
  3. Identification of PKD2L, a human PKD2-related gene: tissue-specific expression and mapping to chromosome 10q25. Wu, G., Hayashi, T., Park, J.H., Dixit, M., Reynolds, D.M., Li, L., Maeda, Y., Cai, Y., Coca-Prados, M., Somlo, S. Genomics (1998) [Pubmed]
  4. Primary liver carcinoma and liver cirrhosis in atomic bomb survivors, Hiroshima and Nagasaki, 1961-75, with special reference to hepatitis B surface antigen. Asano, M., Kato, H., Yoshimoto, K., Seyama, S., Itakura, H., Hamada, T., Iijima, S. J. Natl. Cancer Inst. (1982) [Pubmed]
  5. Expression of the c-myc protooncogene product in cells infected with the hepatitis delta virus. Tappero, G., Natoli, G., Anfossi, G., Rosina, F., Negro, F., Smedile, A., Bonino, F., Angeli, A., Purcell, R.H., Rizzetto, M. Hepatology (1994) [Pubmed]
  6. Spinal cord injury, posttraumatic stress, and locus of control among the elderly: a comparison with young and middle-aged patients. Chung, M.C., Preveza, E., Papandreou, K., Prevezas, N. Psychiatry. (2006) [Pubmed]
  7. The burden of psychological symptoms in UK Armed Forces. Jones, M., Rona, R.J., Hooper, R., Wesseley, S. Occupational medicine (Oxford, England) (2006) [Pubmed]
  8. Remission from Pathological Gambling among Hispanics and Native Americans. Westermeyer, J., Canive, J., Thuras, P., Kim, S.W., Crosby, R., Thompson, J., Garrard, J. Community mental health journal (2006) [Pubmed]
  9. Transient receptor potential family members PKD1L3 and PKD2L1 form a candidate sour taste receptor. Ishimaru, Y., Inada, H., Kubota, M., Zhuang, H., Tominaga, M., Matsunami, H. Proc. Natl. Acad. Sci. U.S.A. (2006) [Pubmed]
  10. The polycystic kidney disease protein PKD2 interacts with Hax-1, a protein associated with the actin cytoskeleton. Gallagher, A.R., Cedzich, A., Gretz, N., Somlo, S., Witzgall, R. Proc. Natl. Acad. Sci. U.S.A. (2000) [Pubmed]
  11. Genomic organization and functional analysis of murine PKD2L1. Murakami, M., Ohba, T., Xu, F., Shida, S., Satoh, E., Ono, K., Miyoshi, I., Watanabe, H., Ito, H., Iijima, T. J. Biol. Chem. (2005) [Pubmed]
  12. The human polycystic kidney disease 2-like (PKDL) gene: exon/intron structure and evidence for a novel splicing mechanism. Guo, L., Chen, M., Basora, N., Zhou, J. Mamm. Genome (2000) [Pubmed]
  13. The polycystins: a novel class of membrane-associated proteins involved in renal cystic disease. Sandford, R., Mulroy, S., Foggensteiner, L. Cell. Mol. Life Sci. (1999) [Pubmed]
  14. Genes homologous to the autosomal dominant polycystic kidney disease genes (PKD1 and PKD2). Veldhuisen, B., Spruit, L., Dauwerse, H.G., Breuning, M.H., Peters, D.J. Eur. J. Hum. Genet. (1999) [Pubmed]
  15. Modulation of the human polycystin-L channel by voltage and divalent cations. Liu, Y., Li, Q., Tan, M., Zhang, Y.Y., Karpinski, E., Zhou, J., Chen, X.Z. FEBS Lett. (2002) [Pubmed]
  16. Troponin I binds polycystin-L and inhibits its calcium-induced channel activation. Li, Q., Liu, Y., Shen, P.Y., Dai, X.Q., Wang, S., Smillie, L.B., Sandford, R., Chen, X.Z. Biochemistry (2003) [Pubmed]
  17. Anatomy of the posterior cruciate ligament. A review. Van Dommelen, B.A., Fowler, P.J. The American journal of sports medicine. (1989) [Pubmed]
  18. Neutrophil-mediated degradation of segmented polyurethanes. Labow, R.S., Erfle, D.J., Santerre, J.P. Biomaterials (1995) [Pubmed]
  19. Permeation and inhibition of polycystin-L channel by monovalent organic cations. Dai, X.Q., Karpinski, E., Chen, X.Z. Biochim. Biophys. Acta (2006) [Pubmed]
  20. Intracellular Delivery of Saquinavir in Biodegradable Polymeric Nanoparticles for HIV/AIDS. Shah, L.K., Amiji, M.M. Pharm. Res. (2006) [Pubmed]
  21. Synthesis of an X-ray opaque biodegradable copolyester by chemical modification of poly (epsilon-caprolactone). Nottelet, B., Coudane, J., Vert, M. Biomaterials (2006) [Pubmed]
  22. Poly(ethylene glycol)/poly(epsilon-caprolactone) diblock copolymeric nanoparticles for non-viral gene delivery: the role of charge group and molecular weight in particle formation, cytotoxicity and transfection. Jang, J.S., Kim, S.Y., Lee, S.B., Kim, K.O., Han, J.S., Lee, Y.M. Journal of controlled release : official journal of the Controlled Release Society. (2006) [Pubmed]
  23. Polycystin-L is a calcium-regulated cation channel permeable to calcium ions. Chen, X.Z., Vassilev, P.M., Basora, N., Peng, J.B., Nomura, H., Segal, Y., Brown, E.M., Reeders, S.T., Hediger, M.A., Zhou, J. Nature (1999) [Pubmed]
  24. Tissue-specific expression and splicing of the rat polycystic kidney disease 1 gene. Xu, H., Shen, J., Walker, C.L., Kleymenova, E. DNA Seq. (2001) [Pubmed]
  25. Tissue and cellular localization of a novel polycystic kidney disease-like gene product, polycystin-L. Basora, N., Nomura, H., Berger, U.V., Stayner, C., Guo, L., Shen, X., Zhou, J. J. Am. Soc. Nephrol. (2002) [Pubmed]
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