ENO2 (Enolase 2): A Key Neuron-Specific Glycolytic Enzyme and Cancer Biomarker
Explore the gene structure, function, expression, and clinical significance of ENO2, a well-known marker for neuroendocrine tumors and neuronal injury.
Gene Information Card
| Symbol | ENO2 |
|---|---|
| Full Name | enolase 2 (gamma, neuronal) |
| Gene Type | protein coding |
| Chromosomal Location | 12p13.31 |
| NCBI Gene ID | 2026 ncbi.nlm.nih.gov/gene/2026 |
| Ensembl ID | ENSG00000111674 |
| UniProt ID | P09104 |
| OMIM ID | 131360 |
| HGNC ID | 3353 |
| Aliases | NSE, enolase 2, gamma enolase, neuron-specific enolase |
Description
ENO2 encodes the gamma subunit of enolase, a glycolytic enzyme that catalyzes the conversion of 2-phosphoglycerate to phosphoenolpyruvate. The gamma isoform is predominantly expressed in neurons and neuroendocrine cells. ENO2 is widely used as a clinical biomarker for neuroendocrine tumors, particularly small cell lung cancer, and for neuronal injury. Its expression is regulated during development and in response to cellular stress.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Small Cell Lung Cancer | Overexpression of ENO2 in neuroendocrine tumor cells; used as a serum tumor marker | ClinVar, COSMIC, literature |
| Neuroblastoma | Elevated ENO2 levels correlate with tumor burden and prognosis | ClinVar, COSMIC |
| Paraneoplastic Neurological Syndromes | Autoantibodies against ENO2 may be present; ENO2 as a marker of neuronal damage | OMIM, literature |
| Neuronal Injury (e.g., stroke, traumatic brain injury) | Elevated ENO2 in cerebrospinal fluid and serum indicates neuronal damage | ClinVar, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | High | High |
| Adrenal gland | Medium | Medium |
| Lung | Low | Low |
| Pancreas | Low | Low |
| Testis | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | High | Neuronal lineage |
| NCI-H82 (small cell lung cancer) | High | Neuroendocrine tumor |
| A549 (lung carcinoma) | Low | Non-neuroendocrine |
| HeLa (cervical carcinoma) | Low | Non-neuronal |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.497A>G (p.Asn166Ser) | Missense | Rare | Potential effect on enzyme activity; clinical significance uncertain |
| c.1A>G (p.Met1?) | Start codon loss | Rare | Loss of protein expression; possible association with neurodevelopmental disorders |
| c.IVS2+1G>A | Splice site | Rare | Splicing defect; likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in ENO2 are rare and may lead to reduced enzyme activity, potentially affecting neuronal metabolism. However, no strong disease association has been established.
Gain of Function (GOF)
Gain-of-function mutations have not been reported for ENO2. Overexpression is observed in tumors but is not due to activating mutations.
Dominant Negative (DN)
No dominant-negative mutations have been described for ENO2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Glycolysis / Gluconeogenesis (KEGG: hsa00010)
• Carbon metabolism (KEGG: hsa01200)
• Biosynthesis of amino acids (KEGG: hsa01230)
• HIF-1 signaling pathway (KEGG: hsa04066)
Protein Summary
ENO2 encodes the gamma enolase, a homodimeric glycolytic enzyme. It is a 47 kDa protein that converts 2-phosphoglycerate to phosphoenolpyruvate. In addition to its metabolic role, ENO2 has been implicated in neuronal differentiation and survival. It is a well-established biomarker for neuroendocrine tumors and neuronal damage, with clinical utility in monitoring disease progression and response to therapy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ENO2 Knockout HEK293 Cell Line | EDJ-KQ1514 | Human | 2026 | Details Get a Quote |
| ENO2 Knockout A-549 Cell Line | EDJ-KQ21147 | Human | 2026 | Details Get a Quote |
| ENO2 Knockout HCT 116 Cell Line | EDJ-KQ21148 | Human | 2026 | Details Get a Quote |
| ENO2 Knockout HeLa Cell Line | EDJ-KQ21149 | Human | 2026 | Details Get a Quote |
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