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TPC2 / TPCN2 is 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 Name: | two pore segment channel 2 |
Family/Subfamily: | Ion Channel , Calcium channel - other |
Synonyms: | TPCN2, TPC2, Two pore segment channel 2, SHEP10 |
Target Sequences: | AY029200 AAK31802.1 Q8NHX9 |
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