DISEASES

Disease-gene associations mined from literature

Literature on PKD2L1

PKD2L1 [ENSP00000325296]

Polycystic kidney disease 2-like 1 protein; 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 . The channel formed by PKD1L2 and PKD1L1 in primary cilia regulates sonic hedgehog/SHH signaling and GLI2 transcription . Pore-forming subunit of a channel formed by PKD1L2 and PKD1L3 that contributes to sour taste perception in gustatory cells . The heteromeric channel formed by PKD1L2 and PKD1L3 is activated by low pH, but opens only when the extracellular pH rises again . 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). ECO:0000269|PubMed:11959145, ECO:0000269|PubMed:19812697, ECO:0000269|PubMed:23212381, ECO:0000269|PubMed:24336289, ECO:0000269|PubMed:25820328, ECO:0000269|PubMed:27754867,

Synonyms:  PKD2L1,  PKD2L1p,  hPKD2L1,  E9PRD1,  H0YDN7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM