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 1 and Polycystic Kidney Disease. Among its related pathways are MAPK-Erk Pathway. Gene Ontology (GO) annotations related to this gene include calcium ion binding and ion channel activity. An important paralog of this gene is PKDREJ.
UniProtKB/Swiss-Prot for PKD1L2 Gene
May function as an ion-channel regulator. May function as a G-protein-coupled receptor.