NCBI Description of 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. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments.|
Community Annotation of TPCN2 Add / Edit TPCN2: Annotations
No community annotations yet for TPCN2.
• "Mouse over" a mutation to see details.
Click on a tumor type to see its full list of significant genes.