AlphaFold predicted structure
AGRN · O00468
Mean pLDDT
68.8/ 100
Low
2,068 residues
Confidence breakdown
- Very high(≥ 90)11%
- Confident(70–90)49%
- Low(50–70)21%
- Very low(< 50)19%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
AGRN
Chr 1p36.33agrin
- MANE:
- ENST00000379370.7
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Congenital myaesthenic syndrome
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalArthrogryposis
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
congenital myasthenic syndrome 8
0.79Congenital myasthenic syndromes
0.71Postsynaptic congenital myasthenic syndromes
0.71Presynaptic congenital myasthenic syndromes
0.71COVID-19
0.55fetal akinesia deformation sequence
0.50dengue disease
0.46presynaptic congenital myasthenic syndrome
0.44neurodevelopmental disorder
0.41postsynaptic congenital myasthenic syndrome
0.38
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Agrin
Depending on alternative splicing and post-translational modifications, it has a role in different processes, including neuromuscular junction formation and maintenance, and regulation of neurite outgrowth (By similarity). Also involved in positive regulation of cartilage formation through alpha-dystroglycan binding and up-regulation of SOX9 (PubMed:26290588)
Diseases associated with AGRN
Curated MONDO disease pages that list AGRN among their top associated genes.