TPCN2 Chromosome 11
Two pore segment channel 2
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What This Gene Does
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]
Gene Info
Gene Group
"Two pore segment channels|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
11q13.3
Ensembl
ENSG00000162341
Associated Conditions (3)
SKIN/HAIR/EYE PIGMENTATION
VARIATION IN
10
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS35264875 | Health Risk | association | SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 10 |
| RS3829241 | Health Risk | association | SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 10 |