GCNT2

Chr 6p24.3-p24.2

glucosaminyl (N-acetyl) transferase 2 (I blood group)

Aliases:: IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3
MANE:: ENST00000495262.7

OMIM: 600429 ↗NCBI: 2651 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

GCNT2 · Q8N0V5

v62025-08-01

Predicted Aligned Error matrix for GCNT2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

91.8/ 100

Very high

402 residues

Confidence breakdown

Very high(≥ 90)80%
Confident(70–90)11%
Low(50–70)7%
Very low(< 50)1%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Bilateral congenital or childhood onset cataracts
BIALLELIC, autosomal or pseudoautosomal
Structural eye disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

cataract 13 with adult I phenotype
0.73
Total congenital cataract
0.64
hereditary disease
0.41
Developmental cataract
0.40
early-onset non-syndromic cataract
0.37
total early-onset cataract
0.37
blood coagulation disease
0.31
hair color
0.29
neuroendocrine neoplasm
0.24
tooth disorder
0.21

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

Protein function (UniProt)

N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase

Branching enzyme that converts linear into branched poly-N-acetyllactosaminoglycans (PubMed:12424189, PubMed:8449405). Introduces the blood group I antigen during embryonic development. It is closely associated with the development and maturation of erythroid cells