TPCN2 Antibody – Goat Polyclonal

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]

TPCN2: 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. Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. Two pore calcium channel subfamily.

Protein type: Transporter, ion channel; Membrane protein, integral; Membrane protein, multi-pass; Transporter

Chromosomal Location of Human Ortholog: 11q13.3

Cellular Component: endosome membrane; integral to membrane; lysosomal membrane; lysosome; plasma membrane

Molecular Function: identical protein binding; protein binding; protein kinase binding; voltage-gated calcium channel activity

Biological Process: calcium-mediated signaling; cellular calcium ion homeostasis; lysosome organization and biogenesis; regulation of autophagy; release of sequestered calcium ion into cytosol; response to vitamin D; smooth muscle contraction

Disease: Skin/hair/eye Pigmentation, Variation In, 10