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 lymphedema, hereditary, ia and hemangioma, capillary infantile. Among its related pathways are Taste transduction. 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 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.