Identification of PKD2L, a human PKD2-related gene: tissue-specific expression and mapping to chromosome 10q25.
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.
Wu
G
G
Department of Medicine and Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York, 10461, USA.
Hayashi
T
T
Park
J H
JH
Dixit
M
M
Reynolds
D M
DM
Li
L
L
Maeda
Y
Y
Cai
Y
Y
Coca-Prados
M
M
Somlo
S
S
D000595:Amino Acid Sequence; D015152:Blotting, Northern; D015220:Calcium Channels; D002879:Chromosomes, Human, Pair 10; D003001:Cloning, Molecular; D020224:Expressed Sequence Tags; D005786:Gene Expression Regulation; D005819:Genetic Markers; D006801:Humans; D008099:Liver / Q000378:metabolism; D008107:Liver Diseases / Q000235:genetics; D008562:Membrane Glycoproteins; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism*; D008969:Molecular Sequence Data; D009928:Organ Specificity; D010750:Phosphoproteins; D016891:Polycystic Kidney, Autosomal Dominant / Q000235:genetics; D011110:Polymorphism, Genetic; D011956:Receptors, Cell Surface; D012160:Retina / Q000378:metabolism; D017386:Sequence Homology, Amino Acid; D050396:TRPP Cation Channels; D014018:Tissue Distribution
D015220:Calcium Channels; D005819:Genetic Markers; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; D010750:Phosphoproteins; D011956:Receptors, Cell Surface; D050396:TRPP Cation Channels; C117185:PKD2L1 protein, human