ETNPPL

Chr 4

ethanolamine-phosphate phospho-lyase

Also known as: AGXT2L1

NCBI Gene: 64850ENSG00000164089UniProt: Q8TBG4OMIM: 614682

Enables ethanolamine-phosphate phospho-lyase activity. Predicted to act upstream of or within several processes, including cellular response to glucocorticoid stimulus; ceramide phosphoethanolamine catabolic process; and phospholipid transfer to membrane. Predicted to be located in mitochondrial matrix. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
16
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.74
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.74LOEUF
pLI 0.000
Z-score 2.55
OE 0.45 (0.28–0.74)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.73Z-score
OE missense 0.71 (0.63–0.80)
194 obs / 274.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.45 (0.28–0.74)
0≤0.351.4
Missense OE?0.71 (0.63–0.80)
0≤0.61.4
Synonymous OE?1.12
0≤1.21.6
LoF obs/exp: 11 / 24.7Missense obs/exp: 194 / 274.6Syn Z: -0.93

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ETNPPL · 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