AlphaFold predicted structure
MAGI2 · Q86UL8
Mean pLDDT
60.5/ 100
Low
1,455 residues
Confidence breakdown
- Very high(≥ 90)21%
- Confident(70–90)27%
- Low(50–70)4%
- Very low(< 50)49%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
MAGI2
Chr 7q21.11membrane associated guanylate kinase, WW and PDZ domain containing 2
- Aliases:
- AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2
- MANE:
- ENST00000354212.9
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Proteinuric renal disease
BIALLELIC, autosomal or pseudoautosomalDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEarly onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalGastrointestinal epithelial barrier disorders
UnknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disease associations (Open Targets)
nephrotic syndrome 15
0.61neurodegenerative disease
0.48type 2 diabetes mellitus
0.42alcohol drinking
0.42familial idiopathic steroid-resistant nephrotic syndrome
0.39nephrotic syndrome
0.39urolithiasis
0.36smoking initiation
0.32lagophthalmos
0.32attention deficit-hyperactivity disorder
0.30
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2
Seems to act as a scaffold molecule at synaptic junctions by assembling neurotransmitter receptors and cell adhesion proteins (By similarity). Plays a role in nerve growth factor (NGF)-induced recruitment of RAPGEF2 to late endosomes and neurite outgrowth (By similarity). May play a role in regulating activin-mediated signaling in neuronal cells (By similarity). Enhances the ability of PTEN to suppress AKT1 activation (PubMed:10760291). Plays a role in receptor-mediated clathrin-dependent endocytosis which is required for ciliogenesis (By similarity)
Diseases associated with MAGI2
Curated MONDO disease pages that list MAGI2 among their top associated genes.