EDEM3

Chr 1q25.3

ER degradation enhancing alpha-mannosidase like protein 3

MANE:: ENST00000318130.13

OMIM: 610214 ↗NCBI: 80267 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

EDEM3 · Q9BZQ6

v62025-08-01

Predicted Aligned Error matrix for EDEM3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

78.0/ 100

Confident

932 residues

Confidence breakdown

Very high(≥ 90)53%
Confident(70–90)21%
Low(50–70)5%
Very low(< 50)20%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

congenital disorder of glycosylation, type 2v
0.77
congenital disorder of glycosylation
0.40
Short stature
0.32
bronchiectasis
0.32
ventricular septal defect
0.31
systemic lupus erythematosus
0.30
retinal degeneration
0.29
placenta praevia
0.23
neurodegenerative disease
0.22
exostosis
0.22

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

Protein function (UniProt)

ER degradation-enhancing alpha-mannosidase-like protein 3

Involved in endoplasmic reticulum-associated degradation (ERAD). Accelerates the glycoprotein ERAD by proteasomes, by catalyzing mannose trimming from Man8GlcNAc2 to Man7GlcNAc2 in the N-glycans (PubMed:25092655). May also participate in mannose trimming from all glycoproteins and not just misfolded ones targeted to ERAD (PubMed:34143952). May have alpha 1,2-mannosidase activity (By similarity)