Gene: TPCN2

Alternate names for this Gene: SHEP10|TPC2

Gene Summary: 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.

Gene is located in Chromosome: 11

Location in Chromosome : 11q13.3

Description of this Gene: two pore segment channel 2

Type of Gene: protein-coding

rs1060435 in TPCN2 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs72928978 in TPCN2 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 29632382 2018 Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes.

rs3892895 in TPCN2 gene and Glomerular Filtration Rate PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

PMID 31015462 2019 Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.

PMID 31451708 2019 Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.

rs1060435 in TPCN2 gene and Hair Color PMID 30531825 2018 Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.

PMID 18488028 2008 Two newly identified genetic determinants of pigmentation in Europeans.

PMID 20585627 2010 Web-based, participant-driven studies yield novel genetic associations for common traits.

PMID 26184321 2015 Heritability and Genome-Wide Association Studies for Hair Color in a Dutch Twin Family Based Sample.

rs72917317 in TPCN2 gene and Suntan PMID 29739929 2018 Genome-wide association study in 176,678 Europeans reveals genetic loci for tanning response to sun exposure.

rs10896437 in TPCN2 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.