Gene: TPCN2
Alternate names for this Gene: SHEP10|TPC2
Gene Summary: This gene encodes a putative cation-selective ion channel with two repeats of a six-transmembrane-domain. The protein localizes to lysosomal membranes and enables nicotinic acid adenine dinucleotide phosphate (NAADP) -induced calcium ion release from lysosome-related stores. This ubiquitously expressed gene has elevated expression in liver and kidney. Two common nonsynonymous SNPs in this gene strongly associate with blond versus brown hair pigmentation.
Gene is located in Chromosome: 11
Location in Chromosome : 11q13.3
Description of this Gene: two pore segment channel 2
Type of Gene: protein-coding