Aliases for PKD1L2 Gene
External Ids for PKD1L2 Gene
Previous GeneCards Identifiers for PKD1L2 Gene
This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
GeneCards Summary for PKD1L2 Gene
PKD1L2 (Polycystin 1 Like 2 (Gene/Pseudogene)) is a Protein Coding gene. Diseases associated with PKD1L2 include polycystic kidney disease and kidney disease. GO annotations related to this gene include calcium ion binding and ion channel activity. An important paralog of this gene is ENSG00000279362.
UniProtKB/Swiss-Prot for PKD1L2 Gene
May function as an ion-channel regulator. May function as a G-protein-coupled receptor.