rs144373891

This variant is located in the SIRT2 gene.

▶

GWAS Catalog Trait Associations (2)

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

NAD-dependent protein deacetylase sirtuin-2 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele T

OR 0.64

p 5.0e-93

N 47,745

Large GWAS

European

protein measurement

Folkersen L et al. “Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals.” Nature Metabolism 2(10):1135-1148 (2020)

Allele T

OR 0.55

p 7.0e-34

N 21,758

Large GWAS

European

▶

ClinVar annotation

Benign★★★☆

2 submitters2 publications

View on ClinVar →

About SIRT2

This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class I of the sirtuin family. Several transcript variants are resulted from alternative splicing of this gene. [provided by RefSeq, Jul 2010]