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PKD2L1 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. Alternative splice variants have been described but their full length sequences have not been determined; FUNCTION: May function as a subunit of an ion channel and act as a transducer of calcium-mediated signaling. SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. TISSUE SPECIFICITY: Expressed in adult heart, skeletal muscle, brain, spleen, testis, retina and liver. According to Ref.1 expressed at high levels in fetal tissues, including kidney and liver, and down-regulated in adult tissues. It has been found to be expressed in fetal brain, but not expressed in fetal lung, liver or kidney. Isoform 4 appears to be expressed only in transformed lymphoblasts.
