Entrez gene ID | | 219931 |
Official gene symbol | | TPCN2 |
Full name | | two pore segment channel 2 |
Aliases | | ,FLJ41094,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. |
Location | | Chromosome: 11 Locus: 11q13.3 |
Gene position | | 68816350 - 68858072 Map Viewer |
Gene orientation | | plus |
Gene size | | 41723 bp |
Gene sequence |
| |
OMIM ID | | 612163 |
|