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  • 总部: 泰国曼谷市巴吞汪区仑披尼分区 普勒吉路齐隆巷5号.
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HGNC Approved Gene Symbol: PKD2L2Cytogenetic location: 5q31.2 Genomic coordinates (GRCh38): 5:137,889,410-137,942,746 (from NCBI)▼ Cloning and ExpressionPoly...

HGNC Approved Gene Symbol: PKD2L2

Cytogenetic location: 5q31.2 Genomic coordinates (GRCh38): 5:137,889,410-137,942,746 (from NCBI)

▼ Cloning and Expression
Polycystin-1 and polycystin-2, encoded by the PKD1 (601313) and PKD2 (173910) genes, respectively, are mutated in the majority of patients with autosomal dominant polycystic kidney disease (173900 and 613095). By searching databases for sequences related to PKD1 or PKD2 and using 5-prime and 3-prime RACE, Veldhuisen et al. (1999) obtained a testis cDNA homolog of PKD2, which they designated PKD2L2. The PKD2L2 cDNA encodes a deduced protein of 613 amino acids that is 48% identical and 67% similar to both PKD2 and PKD2L1 (604532). Sequence analysis predicted that PKD2L2 has 6 to 8 transmembrane domains, 2 cation channel motifs, and a channel pore calcium sodium motif. In contrast to PKD2, it has no putative EF-hand or coiled-coil domains. By Northern blot and RT-PCR analyses, Veldhuisen et al. (1999) found expression of approximately 1.2-, 1.5-, and 2.5-kb PKD2L2 transcripts in testis only.

▼ Gene Structure
Veldhuisen et al. (1999) determined that the PKD2L2 gene contains 14 exons.

▼ Mapping
By radiation hybrid and genomic PCR analyses, Veldhuisen et al. (1999) mapped the PKD2L2 gene to chromosome 5q31.

Veldhuisen et al. (1999) found no linkage to PKD2L2 in 5 autosomal dominant polycystic kidney disease families that were unlinked to PKD1 or PKD2.

Tags: 5q31.2