ENO3

Chr 17AR

enolase 3

Also known as: GSD13, MSE

NCBI Gene: 2027ENSG00000108515UniProt: P13929

This gene encodes one of the three enolase isoenzymes found in mammals. This isoenzyme is found in skeletal muscle cells in the adult where it may play a role in muscle development and regeneration. A switch from alpha enolase to beta enolase occurs in muscle tissue during development in rodents. Mutations in this gene have be associated glycogen storage disease. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jul 2010]

Primary Disease Associations & Inheritance

Glycogen storage disease XIIIMIM #612932
AR
440
ClinVar variants
27
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— ENO3
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
27 Pathogenic / Likely Pathogenic· 207 VUS of 440 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.69LOEUF
pLI 0.000
Z-score -0.96
OE 1.22 (0.90–1.69)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
-0.93Z-score
OE missense 1.16 (1.06–1.28)
292 obs / 250.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.1.22 (0.90–1.69)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.16 (1.06–1.28)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.07
0≤1.21.6
LoF obs/exp: 26 / 21.2Missense obs/exp: 292 / 250.8Syn Z: -0.53

ClinVar Variant Classifications

440 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic23
Likely Pathogenic4
VUS207
Likely Benign169
Benign28
Conflicting9
23
Pathogenic
4
Likely Pathogenic
207
VUS
169
Likely Benign
28
Benign
9
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
1
1
21
0
23
Likely Pathogenic
2
0
2
0
4
VUS
12
167
25
3
207
Likely Benign
0
1
86
82
169
Benign
0
4
22
2
28
Conflicting
—9
Total1517315687440

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

ENO3 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
ENOLASE 3; ENO3
MIM #131370 · *

Glycogen storage disease XIII

MIM #612932

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Neuron-Specific Enolase as a Biomarker: Biochemical and Clinical Aspects.
Isgrò MA et al.·Adv Exp Med Biol
2015Review
ENO3 promotes colorectal cancer progression by enhancing cell glycolysis.
Chen J et al.·Med Oncol
2022
Uncovering the molecular networks of ferroptosis in the pathogenesis of type 2 diabetes and its complications: a multi-omics investigation.
Dong C et al.·Mol Med
2024
Predictive Models for Colon Adenocarcinoma Diagnosis, Prognosis, and Immune Microenvironment Based on 2 Hypoxia-Related Genes: KDM3A and ENO3.
Kong C et al.·Technol Cancer Res Treat
2023Functional
CSN5 overexpression promotes the integral progression of cervical cancer by enhancing ENO3-mediated glycolysis.
Cao Z et al.·Apoptosis
2026
Overexpression and Selective Anticancer Efficacy of ENO3 in STK11 Mutant Lung Cancers.
Park C et al.·Mol Cells
2019
Identification of potential metabolic biomarkers and immune cell infiltration for metabolic associated steatohepatitis by bioinformatics analysis and machine learning.
Xie H et al.·Sci Rep
2025
Diagnostic signature composed of seven genes in HIF-1 signaling pathway for preeclampsia.
Yang X et al.·BMC Pregnancy Childbirth
2023
Identification and validation of novel prognostic fatty acid metabolic gene signatures in colon adenocarcinoma through systematic approaches.
Zhang H et al.·Oncol Res
2023
Ferroptosis and Preeclampsia: Genetic Analysis of Potential Biomarkers and Therapeutic Targets.
Wang Q et al.·Biochem Genet
2024
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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