Gene Symbol | TPCN2 |
Entrez Gene ID | 219931 |
Full Name | two pore segment channel 2 |
Synonyms | SHEP10,TPC2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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.[provided by RefSeq, Dec 2009]. |
Disorder MIM: | |
Disorder Html: | [Skin/hair/eye pigmentation 10, blond/brown hair], 612267 (3) |