Tpcn2 is a nicotinic acid adenine dinucleotide phosphate (NAADP) receptor that may function as one of the major voltage-gated Ca(2+) channels (VDCC) across the lysosomal membrane. Tpcn2 may also be involved in smooth muscle contraction. The Tpcn2 gene encodes a putative cation-selective ion channel with two repeats of a six-transmembrane-domain. The Tpcn2 protein localizes to lysosomal membranes and enables nicotinic acid adenine dinucleotide phosphate (NAADP) -induced calcium ion release from lysosome-related stores. Tpcn2 is a ubiquitously expressed gene that has elevated expression in liver and kidney. Two common nonsynonymous SNPs in the Tpcn2 gene strongly associate with blond versus brown hair pigmentation. Diseases associated with TPCN2 include Deafness, Autosomal Recessive 63 and Deafness, Autosomal Recessive 7.View more View less
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