GPAT3

Chr 4

glycerol-3-phosphate acyltransferase 3

Also known as: AGPAT 10, AGPAT10, AGPAT8, AGPAT9, HMFN0839, LPAAT-theta, MAG1

NCBI Gene: 84803ENSG00000138678UniProt: Q53EU6OMIM: 610958

This gene encodes a member of the lysophosphatidic acid acyltransferase protein family. The encoded protein is an enzyme which catalyzes the conversion of glycerol-3-phosphate to lysophosphatidic acid in the synthesis of triacylglycerol. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2012]

OMIMResearchGenerating clinical summary…
0
Active trials
36
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.11
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.11LOEUF
pLI 0.000
Z-score 1.12
OE 0.77 (0.54–1.11)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.44Z-score
OE missense 0.92 (0.82–1.03)
220 obs / 239.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.77 (0.54–1.11)
0≤0.351.4
Missense OE?0.92 (0.82–1.03)
0≤0.61.4
Synonymous OE?1.18
0≤1.21.6
LoF obs/exp: 21 / 27.3Missense obs/exp: 220 / 239.2Syn Z: -1.32

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GPAT3 · 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