TPCN2 gene

two pore segment channel 2

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

From NCBI Gene:

  • Skin/hair/eye pigmentation, variation in, 10

Cytogenetic Location: 11q13.3, which is the long (q) arm of chromosome 11 at position 13.3

Molecular Location: base pairs 69,048,876 to 69,090,604 on chromosome 11 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 11q13.3, which is the long (q) arm of chromosome 11 at position 13.3
  • SHEP10
  • TPC2