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

Mapped to neXtProt, Mapped to UniProt SWISS-PROT, Predicted membrane proteins, Protein evidence (Peptideatlas), Transporters, Voltage-gated ion channels

Chromosome

11:q13.3 (69048932 - 69136316)

Ensembl ID

ENSG00000162341  (ver. 99.38)

Orthologs

-

UniProt

Q8NHX9

neXtProt

NX_Q8NHX9

Human splice variants