MGAT4D

Chr 4

MGAT4 family member D

Also known as: GnT1IP

NCBI Gene: 152586ENSG00000205301UniProt: A6NG13OMIM: 610310

Predicted to enable acetylglucosaminyltransferase activity. Predicted to be involved in protein N-linked glycosylation. Predicted to be located in Golgi membrane and endoplasmic reticulum membrane. Predicted to be active in Golgi stack; endoplasmic reticulum; and endoplasmic reticulum-Golgi intermediate compartment. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.24
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.24LOEUF
pLI 0.000
Z-score 0.93
OE 0.73 (0.45–1.24)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.99Z-score
OE missense 0.75 (0.63–0.89)
90 obs / 120.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.73 (0.45–1.24)
0≤0.351.4
Missense OE?0.75 (0.63–0.89)
0≤0.61.4
Synonymous OE?0.64
0≤1.21.6
LoF obs/exp: 10 / 13.7Missense obs/exp: 90 / 120.8Syn Z: 1.89

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

MGAT4D · 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