TPCN2

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]

Description

two pore segment channel 2

Protein family

Membrane proteins predicted by MDM, Transporters, Voltage-gated ion channels

Chromosome

11:q13.3 (68816365 - 68858072)

Ensembl ID

ENSG00000162341  (ver. 69.37)

Orthologs

Mouse Tpcn2: ENSMUSG00000048677

Human splice variants
Mouse splice variants