rs2657879

This is a protein-altering variant in the GLS2 gene.

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GWAS Catalog Trait Associations (16)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

glutamine measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)

Allele G

OR 0.26

p —

N 450,015

Large GWAS

multi-ancestry

Lotta LA et al. “A cross-platform approach identifies genetic regulators of human metabolism and health.” Nature Genetics 53(1):54-64 (2021)

Allele G

OR 35.71

p 2.0e-279

N 85,821

Large GWAS

European

Kettunen J et al. “Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA.” Nature Communications 7:11122 (2016)

Allele G

OR —

β 0.220

p 3.0e-70

N 24,462

Large GWAS

European

Chen Y et al. “Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases.” Nature Genetics 55(1):44-53 (2023)

Allele G

OR 0.29

p 4.0e-51

N 8,253

Large GWAS

European

Shin SY et al. “An atlas of genetic influences on human blood metabolites.” Nature Genetics 46(6):543-550 (2014)

Allele G

OR 0.01

p 6.0e-18

N 7,821

Large GWAS

European

Draisma HHM et al. “Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.” Nature Communications 6:7208 (2015)

Allele G

OR 0.03

p 2.0e-14

N 7,478

Large GWAS

European

Riveros-Mckay F et al. “The influence of rare variants in circulating metabolic biomarkers.” Plos Genetics 16(3):e1008605 (2020)

Allele G

OR 0.23

p 2.0e-25

N 7,142

Large GWAS

European

alanine measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)

Allele G

OR 0.10

p 8.0e-304

N 450,015

Large GWAS

multi-ancestry

glycine measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)

Allele G

OR 0.05

p 6.0e-85

N 450,015

Large GWAS

multi-ancestry

Abar L et al. “Unravelling genetic architecture of circulatory amino acid levels, and their effect on risk of complex disorders.” Nar Genomics and Bioinformatics 6(2):lqae046 (2024)

Allele G

OR 0.05

p 3.0e-24

N 117,944

Large GWAS

European

Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)

Allele G

OR 0.05

p 3.0e-21

N 114,978

Large GWAS

European

amino acid measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)

Allele G

OR 0.04

p 8.0e-63

N 450,015

Large GWAS

multi-ancestry

Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)

Allele G

OR 0.04

p 6.0e-18

N 115,051

Large GWAS

European

isoleucine measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)

Allele G

OR 0.04

p 1.0e-54

N 450,015

Large GWAS

multi-ancestry

leucine measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)

Allele G

OR 0.04

p 1.0e-53

N 450,015

Large GWAS

multi-ancestry

Abar L et al. “Unravelling genetic architecture of circulatory amino acid levels, and their effect on risk of complex disorders.” Nar Genomics and Bioinformatics 6(2):lqae046 (2024)

Allele G

OR 0.04

p 1.0e-16

N 117,944

Large GWAS

European

gamma-glutamylglutamine measurement

Chen Y et al. “Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases.” Nature Genetics 55(1):44-53 (2023)

Allele G

OR 0.21

p 5.0e-28

N 8,217

Large GWAS

European

Shin SY et al. “An atlas of genetic influences on human blood metabolites.” Nature Genetics 46(6):543-550 (2014)

Allele G

OR 0.02

p 6.0e-19

N 7,662

Large GWAS

European

threonine measurement

Lotta LA et al. “A cross-platform approach identifies genetic regulators of human metabolism and health.” Nature Genetics 53(1):54-64 (2021)

Allele G

OR 9.12

p 8.0e-20

N 29,276

Large GWAS

European

urate measurement

Gill D et al. “Urate, Blood Pressure, and Cardiovascular Disease: Evidence From Mendelian Randomization and Meta-Analysis of Clinical Trials.” Hypertension (dallas, Tex. : 1979) 77(2):383-392 (2021)

Allele A

OR 0.02

p 4.0e-19

N 454,183

Meta-analysisLarge GWAS

European

metabolite measurement

Suhre K et al. “Human metabolic individuality in biomedical and pharmaceutical research.” Nature 477(7362):54-60 (2011)

Allele G

OR —

β 0.035

p 3.0e-17

N 2,820

Large GWAS

European

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Research that mentions this SNP (2)

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Transethnic insight into the genetics of glycaemic traits: fine-mapping results from the Population Architecture using Genomics and Epidemiology (PAGE) consortium

AssociationN=26,760Stephanie A. Bien et al.(2017)· Diabetologia

Transethnic fine-mapping study of glycaemic traits in 26,760 participants (Hispanic/Latino, African, Asian, and Native American) using the Metabochip. Replicated 31/39 fasting glucose and 14/17 fasting insulin loci from European GWAS. Identified two novel secondary signals at G6PC2-rs477224 and GCK-rs2908290, a population-specific signal at G6PC2-rs77719485 in African ancestry, and one novel locus at SLC17A2-rs75862513 for fasting insulin.

Traits studied:Fasting glucoseFasting insulinType 2 diabetes

PubMed DOI Metascience Observatory

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SNP rs6265 Regulates Protein Phosphorylation and Osteoblast Differentiation and Influences BMD in Humans

AssociationN=4,913Fei-Yan Deng et al.(2013)· Journal of Bone and Mineral Research

This genome-wide association study identified rs6265 (Val66Met) in the BDNF gene as a phosSNP (phosphorylation-related SNP) associated with bone mineral density (BMD) in three independent populations (~5,000 subjects total). Individuals carrying the AA genotype had significantly lower hip BMD than GA/GG carriers. Functional studies demonstrated that rs6265 regulates BDNF protein phosphorylation at residue T62 and affects osteoblast differentiation through modulation of genes OPN, BMP2, and ALP.

Traits studied:Bone mineral densityHip BMDOsteoporosisSpine BMD

PubMed DOI Metascience Observatory

About GLS2

The protein encoded by this gene is a mitochondrial phosphate-activated glutaminase that catalyzes the hydrolysis of glutamine to stoichiometric amounts of glutamate and ammonia. Originally thought to be liver-specific, this protein has been found in other tissues as well. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013]

rs2657879

GWAS Catalog Trait Associations (16)

glutamine measurement

alanine measurement

glycine measurement

amino acid measurement

isoleucine measurement

leucine measurement

gamma-glutamylglutamine measurement

threonine measurement

urate measurement

metabolite measurement

Research that mentions this SNP (2)

About GLS2

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