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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ENO3
enolase 3
Chromosome 17 · 17p13.2
NCBI Gene: 2027Ensembl: ENSG00000108515.19HGNC: HGNC:3354UniProt: P13929
67PubMed Papers
21Diseases
0Drugs
4Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
extracellular exosomeprotein bindingcytosolGO:0005615glycogen storage disease due to muscle beta-enolase deficiencyneurodegenerative diseaseExercise-induced rhabdomyolysisThrombocytopenia
✦AI Summary

ENO3 encodes enolase 3 (β-enolase), a muscle-specific glycolytic enzyme that catalyzes the conversion of 2-phosphoglycerate to phosphoenolpyruvate in glycolysis and the reverse reaction in gluconeogenesis 1. The ENO3 gene spans approximately 6 kb, contains 12 exons, and encodes a 433-residue protein with regulatory elements including muscle-specific transcription factor binding sites 1. ENO3 expression is regulated by tissue-specific methylation patterns, with unmethylated CpG islands in the promoter region across all tissues but differential methylation within the gene body 2. Beyond its metabolic role, ENO3 appears critical for striated muscle development and regeneration, with expression changes observed during satellite cell activation 3. ENO3 dysfunction contributes to various pathological conditions: it promotes aerobic glycolysis in cholangiocarcinoma through USP21-mediated stabilization 4, enhances colorectal cancer progression by increasing cellular glycolysis, ATP production, and lactate levels 5, and participates in diabetic angiopathy through SIRT6-mediated deacetylation that drives pathological glycolysis reprogramming in vascular smooth muscle cells 6. These findings establish ENO3 as both a fundamental metabolic enzyme and a potential therapeutic target in cancer and diabetic complications.

Sources cited
1
ENO3 gene structure, protein product, and muscle-specific regulatory elements
PMID: 1840492
2
Tissue-specific methylation patterns in ENO3 gene regulation
PMID: 8318001
3
ENO3 expression during satellite cell activation and muscle regeneration
PMID: 35302338
4
ENO3 stabilization by USP21 promotes glycolysis in cholangiocarcinoma
PMID: 38385089
5
ENO3 enhances glycolysis and promotes colorectal cancer progression
PMID: 35477821
6
SIRT6-ENO3 interaction drives pathological glycolysis in diabetic angiopathy
PMID: 40580755
Disease Associationsⓘ21
glycogen storage disease due to muscle beta-enolase deficiencyOpen Targets
0.74Strong
neurodegenerative diseaseOpen Targets
0.48Moderate
Exercise-induced rhabdomyolysisOpen Targets
0.37Weak
ThrombocytopeniaOpen Targets
0.30Weak
genetic disorderOpen Targets
0.19Weak
amyotrophic lateral sclerosisOpen Targets
0.15Weak
kidney diseaseOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.08Suggestive
MODYOpen Targets
0.08Suggestive
type 1 diabetes mellitusOpen Targets
0.06Suggestive
maturity-onset diabetes of the young type 4Open Targets
0.05Suggestive
diabetes mellitus, transient neonatal, 2Open Targets
0.05Suggestive
maturity-onset diabetes of the young type 2Open Targets
0.05Suggestive
maturity-onset diabetes of the young type 6Open Targets
0.05Suggestive
maturity-onset diabetes of the young type 3Open Targets
0.05Suggestive
maturity-onset diabetes of the young type 10Open Targets
0.04Suggestive
non-alcoholic steatohepatitisOpen Targets
0.04Suggestive
Alzheimer diseaseOpen Targets
0.03Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.03Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.02Suggestive
Glycogen storage disease 13UniProt
Pathogenic Variants4
NM_053013.4(ENO3):c.1176+2T>CLikely pathogenic
Glycogen storage disease due to muscle beta-enolase deficiency
★☆☆☆2024
NM_053013.4(ENO3):c.1037_1041dup (p.Gly348fs)Pathogenic
Glycogen storage disease due to muscle beta-enolase deficiency
★☆☆☆2020→ Residue 348
NM_053013.4(ENO3):c.157del (p.Asp53fs)Likely pathogenic
not provided
★☆☆☆2019→ Residue 53
NM_053013.4(ENO3):c.1070G>A (p.Cys357Tyr)Pathogenic
Glycogen storage disease due to muscle beta-enolase deficiency
☆☆☆☆2021→ Residue 357
View on ClinVar ↗
Related Genes
RPS9Protein interaction100%PGAM1Protein interaction99%AK2Protein interaction99%TALDO1Protein interaction97%CSTF3Protein interaction96%PCK2Protein interaction96%
Tissue Expression6 tissues
Heart
100%
Liver
23%
Lung
5%
Ovary
2%
Bone Marrow
1%
Brain
1%
Gene Interaction Network
Click a node to explore
ENO3RPS9PGAM1AK2TALDO1CSTF3PCK2
PROTEIN STRUCTURE
Preparing viewer…
PDB2XSX · 1.70 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.18LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.92 [0.73–1.18]
RankingsWhere ENO3 stands among ~20K protein-coding genes
  • #6,979of 20,598
    Most Researched67
  • #3,779of 5,498
    Most Pathogenic Variants4
  • #12,385of 17,882
    Most Constrained (LOEUF)1.18
Genes detectedENO3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Neuron-Specific Enolase as a Biomarker: Biochemical and Clinical Aspects.
PMID: 26530364
Adv Exp Med Biol · 2015
1.00
2
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis · 2022
0.90
3
USP21 deubiquitinates and stabilizes HSP90 and ENO1 to promote aerobic glycolysis and proliferation in cholangiocarcinoma.
PMID: 38385089
Int J Biol Sci · 2024
0.80
4
Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies.
PMID: 35302338
Eur J Transl Myol · 2022
0.70
5
Translocation of SIRT6 promotes glycolysis reprogramming to exacerbate diabetic angiopathy.
PMID: 40580755
Redox Biol · 2025
0.60