ETNK1

Chr 12

ethanolamine kinase 1

Also known as: EKI, EKI 1, EKI1, Nbla10396

NCBI Gene: 55500ENSG00000139163UniProt: Q9HBU6

This gene encodes an ethanolamine kinase, which functions in the first committed step of the phosphatidylethanolamine synthesis pathway. This cytosolic enzyme is specific for ethanolamine and exhibits negligible kinase activity on choline. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

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0
Active trials
11
Pubs (1 yr)
0
P/LP submissions
—
P/LP missense
0.36
LOEUF
—
Mechanism
Clinical Summary— ETNK1
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.93). One damaged copy is likely sufficient to cause disease.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.36LOEUF
pLI 0.926
Z-score 3.70
OE 0.14 (0.06–0.36)
Highly constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
1.91Z-score
OE missense 0.66 (0.58–0.75)
161 obs / 245.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.14 (0.06–0.36)
0≤0.351.4
Missense OE0.66 (0.58–0.75)
0≤0.61.4
Synonymous OE1.00
0≤1.21.6
LoF obs/exp: 3 / 21.5Missense obs/exp: 161 / 245.4Syn Z: -0.03

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ETNK1 · 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.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
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Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
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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