Aliases for PKD2L1 Gene
External Ids for PKD2L1 Gene
Previous HGNC Symbols for PKD2L1 Gene
Previous GeneCards Identifiers for PKD2L1 Gene
This gene encodes a member of the polycystin protein family. The encoded protein contains multiple transmembrane domains, and cytoplasmic N- and C-termini. The protein may be an integral membrane protein involved in cell-cell/matrix interactions. This protein functions as a calcium-regulated nonselective cation channel. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
GeneCards Summary for PKD2L1 Gene
PKD2L1 (Polycystic Kidney Disease 2-Like 1) is a Protein Coding gene. Diseases associated with PKD2L1 include polycystic kidney disease 2 and mucocutaneous leishmaniasis. GO annotations related to this gene include calcium ion binding and calcium channel activity. An important paralog of this gene is PKD1L1.
UniProtKB/Swiss-Prot for PKD2L1 Gene
Pore-forming subunit of a ciliary calcium channel that controls calcium concentration within primary cilia without affecting cytoplasmic calcium concentration. Forms a heterodimer with PKD1L1 in primary cilia and forms a calcium-permeant ciliary channel that regulates sonic hedgehog/SHH signaling and GLI2 transcription. May act as a sour taste receptor by forming a calcium channel with PKD1L3 in gustatory cells; however, its contribution to sour taste perception is unclear in vivo and may be indirect.