MOGS

Chr 2

mannosyl-oligosaccharide glucosidase

Also known as: CDG2B, CWH41, DER7, GCS1

NCBI Gene: 7841ENSG00000115275UniProt: Q13724

This gene encodes the first enzyme in the N-linked oligosaccharide processing pathway. The enzyme cleaves the distal alpha-1,2-linked glucose residue from the Glc(3)-Man(9)-GlcNAc(2) oligosaccharide precursor. This protein is located in the lumen of the endoplasmic reticulum. Defects in this gene are a cause of type IIb congenital disorder of glycosylation (CDGIIb). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtType IIb congenital disorder of glycosylation

Clinical highlights

Gene-disease validity (ClinGen)
MOGS-congenital disorder of glycosylation · ARDefinitivesufficient evidence for diagnostic panels
0
Active trials
39
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.96
LOEUF
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.96LOEUF
pLI 0.000
Z-score 1.75
OE 0.66 (0.47–0.96)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.66Z-score
OE missense 0.91 (0.84–0.99)
434 obs / 474.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.66 (0.47–0.96)
0≤0.351.4
Missense OE?0.91 (0.84–0.99)
0≤0.61.4
Synonymous OE?1.05
0≤1.21.6
LoF obs/exp: 21 / 31.6Missense obs/exp: 434 / 474.6Syn Z: -0.51

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MOGS · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients