PKD1L2 - polycystin 1 like 2 (gene/pseudogene) Gene
Also Known as PC1L2
Species: Homo sapiens
About PKD1L2
This gene has 11 transcripts (splice variants), 309 orthologues and 10 paralogues. Biased expression in fat (RPKM 3.7), heart (RPKM 1.2) and 7 other tissues.
Summary
This gene encodes a member of the polycystin protein family. This protein may function as a G-protein-coupled component or regulator of cation channel pores. The long isoform of this protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, Lipoxygenase, alpha-toxin (PLAT) domain. Alternative splicing results in multiple transcript variants encoding distinct isoforms. This gene is a polymorphic pseudogene in humans. [provided by RefSeq, May 2022]
PKD1L2 Products (4)
| mRNA | Protein | Name |
|---|---|---|
| NM_001076780.3 | NP_001070248.2 | polycystic kidney disease protein 1-like 2 isoform c precursor |
| NM_001278423.2 | NP_001265352.1 | polycystic kidney disease protein 1-like 2 isoform e |
| NM_001278425.3 | NP_001265354.2 | polycystic kidney disease protein 1-like 2 isoform d |
| NM_052892.5 | NP_443124.4 | polycystic kidney disease protein 1-like 2 isoform a precursor |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
polycystic kidney disease protein 1-like 2 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Polycystic Kidney Disease |
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| Kidney Disease |
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| Conduct Disorder |
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| Macular Degeneration, Age-Related, 10 |
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| Autosomal Dominant Polycystic Kidney Disease |
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| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
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| Cystic Kidney Disease |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | PKD1L2 | RGD | RGD:1588631 |
| Mus musculus | PKD1L2 | MGD | MGI:2664668 |
| Canis familiaris | PKD1L2 | VGNC | VGNC:56013 |
| Others | PKD1L2 | NCBI |