GNE

Chr 9p13.3

glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase

Aliases:: Uae1
MANE:: ENST00000642385.2

OMIM: 603824 ↗NCBI: 10020 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

GNE · Q9Y223

v62025-08-01

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

Mean pLDDT

93.1/ 100

Very high

722 residues

Confidence breakdown

Very high(≥ 90)87%
Confident(70–90)8%
Low(50–70)1%
Very low(< 50)3%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Bleeding and platelet disorders
BIALLELIC, autosomal or pseudoautosomal
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomal
Distal myopathies
BIALLELIC, autosomal or pseudoautosomal
Inherited bleeding disorders
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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Disease associations (Open Targets)

GNE myopathy
0.84
Distal myopathy, Nonaka type
0.83
sialuria
0.82
inclusion body myositis
0.73
thrombocytopenia 12 with or without myopathy
0.65
distal myopathy
0.47
hereditary disease
0.47
limb-girdle muscular dystrophy
0.46
platelet-type bleeding disorder 19
0.37
macrothrombocytopenia, isolated
0.37

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

Protein function (UniProt)

Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase

Bifunctional enzyme that possesses both UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities, and serves as the initiator of the biosynthetic pathway leading to the production of N-acetylneuraminic acid (NeuAc), a critical precursor in the synthesis of sialic acids. By catalyzing this pivotal and rate-limiting step in sialic acid biosynthesis, this enzyme assumes a pivotal role in governing the regulation of cell surface sialylation, playing a role in embryonic angiogenesis (PubMed:10334995, PubMed:11326336, PubMed:14707127, PubMed:16503651, PubMed:2808337, PubMed:38237079). Sialic acids represent a category of negatively charged sugars that reside on the surface of cells as terminal components of glycoconjugates and mediate important functions in various cellular processes, including cell adhesion, signal transduction, and cellular recognition (PubMed:10334995, PubMed:14707127)