GeneID: 222
Names
| Common Name: | PKD1L2 | Type: | Gene |
|---|---|---|---|
| Chromosome: | 16 (NC_000016.10) | Locus: | NG_033236.1 (PKD1L2) |
| HUGO Symbol: | PKD1L2 | Full Name: | polycystin 1 like 2 (gene/pseudogene) |
| Exons: | 44 | Introns: | 43 |
Description:
The PKD1L2 gene encodes polycystin-1L2 (PC1L2), member of the polycystin-1-like (PC1L) sub-family of proteins. Polycystin-1 is a large integral membrane glycoprotein containing 11 transmembrane segments with extracellular N-terminal and intracellular C-terminal domains. The N-terminal region contains a number of adhesive domains (e.g. leucine-rich repeats, a C-type lectin domain, and an LDL-A-like domain) that facilitate a wide range of cell-cell or cell-matrix interactions. The C-terminal region includes a coiled-coil domain known to interact with and regulate the function of polycystin-2 (PC2), a protein that behaves as a calcium-activated cation channel. PC1L2 contains an ion transport domain rather than a coiled-coil domain and has several putative phosphorylation sites that may be involved in the regulation of downstream signalling. All PC1-like sub-family proteins contain a GPS domain, can bind to specific Gα protein subunits and likely function as G-protein coupled receptors. PC1L2 may function as an ion-channel regulator. The PKD1L2 gene is highly expressed in the kidney and is a suspected modifier of polycystic kidney disease. It is also expressed in the heart and has been implicated in normal cardiac development and function. Alternative splicing results in multiple transcript variants. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. A polymorphism in this gene associated with glomerular filtration rate in pediatric patients with sickle cell disease.
Synonyms: PC1L2
Comments:
N/A
Number of entries/variants: 1
Publications / Origin
- Nomura H, Turco AE, Pei Y, Kalaydjieva L, Schiavello T, Weremowicz S, Ji W, Morton CC, Meisler M, Reeders ST, Zhou J, Identification of PKDL, a novel polycystic kidney disease 2-like gene whose murine homologue is deleted in mice with kidney and retinal defects., J. Biol. Chem. , 273(40), 25967-73, 1998
- Yoder BK, Hou X, Guay-Woodford LM, The polycystic kidney disease proteins, polycystin-1, polycystin-2, polaris, and cystin, are co-localized in renal cilia., J. Am. Soc. Nephrol. , 13(10), 2508-16, 2002
- Yuasa T, Takakura A, Denker BM, Venugopal B, Zhou J, Polycystin-1L2 is a novel G-protein-binding protein., Genomics , 84(1), 126-38, 2004
- Schaefer BA, Flanagan JM, Alvarez OA, Nelson SC, Aygun B, Nottage KA, George A, Roberts CW, Piccone CM, Howard TA, Davis BR, Ware RE, Genetic Modifiers of White Blood Cell Count, Albuminuria and Glomerular Filtration Rate in Children with Sickle Cell Anemia., PLoS ONE , 11(10), e0164364, 2016