ABO

Chr 9q34.2

ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase

Aliases:: A3GALNT, A3GALT1
MANE:: ENST00000644422.3

OMIM: 110300 ↗NCBI: 28 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

ABO · P16442

v62025-08-01

Predicted Aligned Error matrix for ABO — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

89.1/ 100

Confident

354 residues

Confidence breakdown

Very high(≥ 90)82%
Confident(70–90)2%
Low(50–70)4%
Very low(< 50)12%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

COVID-19 research
Unknown

Disease associations (Open Targets)

COVID-19
0.57
venous thromboembolism
0.56
deep vein thrombosis
0.55
peptic ulcer disease
0.53
Thromboembolism
0.53
duodenal ulcer
0.52
type 2 diabetes mellitus
0.51
open-angle glaucoma
0.51
coronary artery disorder
0.51
phlebitis
0.51

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Histo-blood group ABO system transferase

This protein is the basis of the ABO blood group system. The histo-blood group ABO involves three carbohydrate antigens: A, B, and H. A, B, and AB individuals express a glycosyltransferase activity that converts the H antigen to the A antigen (by addition of N-acetyl-alpha-D-galactosamine (GalNAc)) or to the B antigen (by addition of galactose (Gal)), whereas O individuals lack such activity and express the H antigen precursor unmodified

Curated MONDO disease pages that list ABO among their top associated genes.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Disease associations (Open Targets)

Protein function (UniProt)

Diseases associated with ABO