Aliases for TPCN2 Gene
External Ids for TPCN2 Gene
Previous GeneCards Identifiers for TPCN2 Gene
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]
GeneCards Summary for TPCN2 Gene
TPCN2 (Two Pore Segment Channel 2) is a Protein Coding gene. Diseases associated with TPCN2 include Skin/Hair/Eye Pigmentation, Variation In, 10 and Deafness, Autosomal Recessive 63. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. Gene Ontology (GO) annotations related to this gene include identical protein binding and ion channel activity. An important paralog of this gene is ENSG00000287725.
UniProtKB/Swiss-Prot Summary for TPCN2 Gene
Nicotinic acid adenine dinucleotide phosphate (NAADP) receptor that may function as one of the major voltage-gated Ca(2+) channels (VDCC) across the lysosomal membrane. May be involved in smooth muscle contraction.