Identification of PKD2L, a human pkd2-related gene : Tissue-specific expression and mapping to chromosome 10q25

• Published in: Genomics (San Diego, Calif.) Vol. 54; no. 3; pp. 564 - 568
• Main Authors: GUANQING WU, HAYASHI, T, PARK, J.-H, DIXIT, M, REYNOLDS, D. M, LI LI, MAEDA, Y, YIQIANG CAI, COCA-PRADOS, M, SOMLO, S
• Format: Journal Article
• Language: English
• Published: San Diego, CA Elsevier 15.12.1998
• Subjects: Amino Acid Sequence; Biological and medical sciences; Blotting, Northern; Calcium Channels; Chromosomes, Human, Pair 10; Cloning, Molecular; Expressed Sequence Tags; Fundamental and applied biological sciences. Psychology; Gene Expression Regulation; Genes. Genome; Genetic Markers; Humans; Liver - metabolism; Liver Diseases - genetics; Membrane Glycoproteins; Membrane Proteins - genetics; Membrane Proteins - metabolism; Molecular and cellular biology; Molecular genetics; Molecular Sequence Data; Organ Specificity; Phosphoproteins; Polycystic Kidney, Autosomal Dominant - genetics; Polymorphism, Genetic; Receptors, Cell Surface; Retina - metabolism; Sequence Homology, Amino Acid; Tissue Distribution; TRPP Cation Channels; Genetic mapping; Human; Membrane protein; Complementary DNA; Nucleotide sequence; Polycystic kidney; Tissue specificity; Homology; Multigene family; Chromosome C10; Gene expression
• ISSN: 0888-7543; 1089-8646
• DOI: 10.1006/geno.1998.5618

Mutations in PKD2 cause autosomal dominant kidney disease (ADPKD). Polycystin-2, the PKD2 gene product, is an integral membrane glycoprotein of unknown function. We have identified PKD2L, another member of the PKD2 gene family. PKD2L is expressed in adult heart and skeletal muscle, brain, spleen, testis, and retina, and alternative transcripts of 2.4, 2.7, and 3.0 kb are seen. PKD2L shows 56% identity and 76% similarity with polycystin-2 over a 581-amino-acid span; however, the COOH-terminal 65 residues of PKD2L are unrelated to PKD2. PKD2L is localized to chromosome 10q25 and is excluded as a candidate gene for autosomal recessive polycystic kidney disease, autosomal dominant polycystic liver disease, and the third form of ADPKD. Given the high degree of homology between PKD2L and PKD2, it is likely that the respective functions of these proteins are also closely related.