rs390387

This variant is located in the UBE2L3 gene.

GWAS Catalog Trait Associations (10)

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

concentration of large HDL particles 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 0.02
p 2.0e-29
N 450,015
Large GWAS
multi-ancestry

free cholesterol in large HDL 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 0.02
p 6.0e-25
N 450,015
Large GWAS
multi-ancestry

HDL particle size

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 0.02
p 2.0e-19
N 450,015
Large GWAS
multi-ancestry

triglycerides to total lipids in chylomicrons and extremely large VLDL percentage

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 0.02
p 1.0e-17
N 450,015
Large GWAS
multi-ancestry

hemoglobin measurement

Allele G
OR 0.02
p 1.0e-15
N 394,642
Large GWAS
European

cholesterol to total lipids in chylomicrons and extremely large VLDL percentage

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 0.02
p 3.0e-15
N 450,015
Large GWAS
multi-ancestry

total cholesterol measurement

Verma A et al. Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.03
p 7.0e-15
N 570,819
Major Consortium StudyLarge GWAS
multi-ancestry

triglycerides to total lipids in large HDL percentage

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 0.02
p 5.0e-12
N 450,015
Large GWAS
multi-ancestry

Red cell distribution width

Allele G
OR
p 7.0e-37
N 563,352
Large GWAS
multi-ancestry
Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele G
OR 0.03
p 5.0e-32
N 408,112
Large GWAS
European

About UBE2L3

The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes (E1s), ubiquitin-conjugating enzymes (E2s) and ubiquitin-protein ligases (E3s). This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is demonstrated to participate in the ubiquitination of p53, c-Fos, and the NF-kB precursor p105 in vitro. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]

View all UBE2L3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…