GPAT2

Chr 2

glycerol-3-phosphate acyltransferase 2, mitochondrial

Also known as: CT123

NCBI Gene: 150763ENSG00000186281UniProt: Q6NUI2OMIM: 616431

Enables glycerol-3-phosphate O-acyltransferase activity. Predicted to be involved in glycerol-3-phosphate metabolic process; glycerolipid biosynthetic process; and piRNA processing. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
LOEUF 1.12
Clinical Summary— GPAT2
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.12LOEUF
pLI 0.000
Z-score 1.02
OE 0.80 (0.58–1.12)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.17Z-score
OE missense 1.03 (0.93–1.13)
295 obs / 287.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.80 (0.58–1.12)
0≤0.351.4
Missense OE?1.03 (0.93–1.13)
0≤0.61.4
Synonymous OE?1.10
0≤1.21.6
LoF obs/exp: 24 / 30.0Missense obs/exp: 295 / 287.0Syn Z: -0.86

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GPAT2 · 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