TY - JOUR
T1 - Identification of PKD2L, a human PKD2-related gene
T2 - Tissue-specific expression and mapping to chromosome 10q25
AU - Wu, Guanqing
AU - Hayashi, Tomohito
AU - Park, Jong Hoon
AU - Dixit, Mehul
AU - Reynolds, David M.
AU - Li, Li
AU - Maeda, Yoshiko
AU - Cai, Yiqiang
AU - Coca-Prados, Miguel
AU - Somlo, Stefan
N1 - Funding Information:
We thank L. Cannizzarro and M. Zohouri for the FISH analysis. This work was supported by a grant from the NIH (DK48383) to S.S. and by a National Kidney Foundation Fellowship to Y.M.
PY - 1998/12/15
Y1 - 1998/12/15
N2 - 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.
AB - 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.
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U2 - 10.1006/geno.1998.5618
DO - 10.1006/geno.1998.5618
M3 - Article
C2 - 9878261
AN - SCOPUS:0032534950
SN - 0888-7543
VL - 54
SP - 564
EP - 568
JO - Genomics
JF - Genomics
IS - 3
ER -