ENO3 Gene: Structure, Function, and Clinical Significance
Comprehensive guide to the ENO3 gene, encoding beta-enolase, its role in glycolysis, associated diseases, and expression patterns.
Gene Information Card
| Symbol | ENO3 |
|---|---|
| Full Name | Enolase 3 (beta, muscle) |
| Gene Type | Protein coding |
| Chromosomal Location | 17p13.2 |
| NCBI Gene ID | 2027 ncbi.nlm.nih.gov/gene/2027 |
| Ensembl ID | ENSG00000108515 |
| UniProt ID | P13929 |
| OMIM ID | 131370 |
| HGNC ID | 3354 |
| Aliases | beta-enolase, enolase 3, muscle-specific enolase, MSE |
Description
The ENO3 gene encodes beta-enolase, a glycolytic enzyme that catalyzes the conversion of 2-phosphoglycerate to phosphoenolpyruvate. It is predominantly expressed in skeletal muscle, with lower levels in heart and other tissues. Mutations in ENO3 cause glycogen storage disease XIII (GSD13), characterized by exercise intolerance and muscle weakness. The enzyme is a homodimer and part of the enolase family, which also includes alpha and gamma isoforms.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glycogen storage disease XIII (GSD13) | Loss-of-function mutations in ENO3 lead to reduced beta-enolase activity, impairing glycolysis in muscle, causing glycogen accumulation and muscle symptoms. | ClinVar, OMIM |
| Enolase deficiency (muscle) | Same as GSD13; autosomal recessive inheritance with homozygous or compound heterozygous mutations. | OMIM, ClinVar |
| Myopathy with exercise intolerance | ENO3 mutations cause myopathy with exercise intolerance, muscle cramps, and elevated creatine kinase. | ClinVar, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | High (e.g., 1000+ nTPM) | High |
| Heart | Moderate (e.g., 100-300 nTPM) | Medium |
| Brain | Low (e.g., <10 nTPM) | Low |
| Liver | Low (e.g., <5 nTPM) | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Skeletal muscle myocytes | High | Primary cell type |
| Cardiomyocytes | Moderate | Present in heart |
| HeLa (cervical cancer) | Low | Low expression |
| HepG2 (liver cancer) | Low | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.577C>T (p.Arg193Cys) | Missense | Rare | Reduced enzyme activity; associated with GSD13 |
| c.839A>G (p.Asp280Gly) | Missense | Rare | Loss of function; pathogenic |
| c.1123G>A (p.Gly375Arg) | Missense | Rare | Pathogenic; causes enolase deficiency |
| c.1A>G (p.Met1Val) | Start codon loss | Rare | Loss of protein; pathogenic |
Mutation functional classification
Loss of Function (LOF)
Most ENO3 mutations are loss-of-function, leading to reduced or absent beta-enolase activity, causing GSD13.
Gain of Function (GOF)
No gain-of-function mutations reported; not applicable.
Dominant Negative (DN)
No dominant-negative effects reported; disease is recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Glycolysis / Gluconeogenesis (KEGG: hsa00010)
• Carbon metabolism (KEGG: hsa01200)
• Biosynthesis of amino acids (KEGG: hsa01230)
Protein Summary
Beta-enolase is a 46 kDa protein that forms homodimers and functions as a glycolytic enzyme. It is highly expressed in skeletal muscle, where it plays a critical role in energy production. The protein contains two enolase domains and requires magnesium ions for catalytic activity. Mutations that impair its function lead to metabolic myopathy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ENO3 Knockout HEK293 Cell Line | EDJ-KQ1513 | Human | 2027 | Details Get a Quote |
| ENO3 Knockout A-549 Cell Line | EDJ-KQ21144 | Human | 2027 | Details Get a Quote |
| ENO3 Knockout HeLa Cell Line | EDJ-KQ21146 | Human | 2027 | Details Get a Quote |
| ENO3 Knockout HCT 116 Cell Line | EDJ-KQ19794 | Human | 2027 | Details Get a Quote |
