AGPAT5

Chr 8

1-acylglycerol-3-phosphate O-acyltransferase 5

Also known as: 1AGPAT5, LPAATE, LPLAT5

NCBI Gene: 55326ENSG00000155189UniProt: Q9NUQ2

This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. This integral membrane protein converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. A pseudogene of this gene is present on the Y chromosome. [provided by RefSeq, Aug 2014]

ResearchGenerating clinical summary…
0
Active trials
9
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.98
LOEUF
DN
Mechanism· predicted
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?
0.98LOEUF
pLI 0.000
Z-score 1.63
OE 0.59 (0.37–0.98)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-1.66Z-score
OE missense 1.33 (1.21–1.48)
262 obs / 196.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.59 (0.37–0.98)
0≤0.351.4
Missense OE?1.33 (1.21–1.48)
0≤0.61.4
Synonymous OE?1.51
0≤1.21.6
LoF obs/exp: 11 / 18.6Missense obs/exp: 262 / 196.4Syn Z: -3.52

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

AGPAT5 · 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