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 (Polycystin 2 Like 1, Transient Receptor Potential Cation Channel) is a Protein Coding gene. Diseases associated with PKD2L1 include Polycystic Kidney Disease and Kidney Disease. Among its related pathways are Taste transduction. Gene Ontology (GO) annotations related to this gene include calcium ion binding and ion channel activity. An important paralog of this gene is PKD2.
UniProtKB/Swiss-Prot for PKD2L1 Gene
Pore-forming subunit of a heterotetrameric, non-selective cation channel that is permeable to Ca(2+) (PubMed:10517637, PubMed:11959145, PubMed:25820328, PubMed:27754867, PubMed:29425510, PubMed:23212381, PubMed:30004384). Pore-forming subunit of a calcium-permeant ion channel formed by PKD1L2 and PKD1L1 in primary cilia, where it controls cilium calcium concentration, but does not affect cytoplasmic calcium concentration (PubMed:24336289). The channel formed by PKD1L2 and PKD1L1 in primary cilia regulates sonic hedgehog/SHH signaling and GLI2 transcription (PubMed:24336289). Pore-forming subunit of a channel formed by PKD1L2 and PKD1L3 that contributes to sour taste perception in gustatory cells (PubMed:19812697). The heteromeric channel formed by PKD1L2 and PKD1L3 is activated by low pH, but opens only when the extracellular pH rises again (PubMed:23212381). May play a role in the perception of carbonation taste (By similarity). May play a role in the sensory perception of water, via a mechanism that activates the channel in response to dilution of salivary bicarbonate and changes in salivary pH (By similarity).