ENO4 (Enolase 4)
Gene encoding a neuron-specific enolase involved in glycolysis and neurodevelopment
Gene Information Card
| Symbol | ENO4 |
|---|---|
| Full Name | enolase 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q26.3 |
| NCBI Gene ID | 387712 ncbi.nlm.nih.gov/gene/387712 |
| Ensembl ID | ENSG00000188313 |
| UniProt ID | A6NMY6 |
| OMIM ID | 617434 |
| HGNC ID | 24944 |
| Aliases | ENO4, enolase 4, neuron-specific enolase |
Description
ENO4 encodes enolase 4, a neuron-specific enolase that catalyzes the conversion of 2-phosphoglycerate to phosphoenolpyruvate in glycolysis. It is predominantly expressed in the nervous system and plays a role in neurodevelopment and energy metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with motor and speech delay | Loss-of-function mutations impair glycolysis in neurons, leading to energy deficiency and developmental abnormalities | ClinVar, OMIM |
| Epileptic encephalopathy | Disrupted enolase activity may alter neuronal excitability and synaptic function | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 4.2 | Low |
| Heart | 1.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | High expression |
| U-87 MG (glioblastoma) | 8.7 | Moderate expression |
| HEK 293 (embryonic kidney) | 0.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | Missense | Rare | Loss of enzymatic activity |
| c.832G>A (p.Gly278Arg) | Missense | Rare | Reduced protein stability |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Complete loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations reduce or abolish enolase activity, leading to neurodevelopmental phenotypes.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • phosphopyruvate hydratase activity (GO:0004634) | • glycolytic process (GO:0006096) |
| • cytoplasm (GO:0005737) | • plasma membrane (GO:0005886) |
Pathways
• Glycolysis / Gluconeogenesis (KEGG: hsa00010)
• Metabolic pathways (KEGG: hsa01100)
Protein Summary
Enolase 4 is a 434-amino-acid protein that forms a homodimer and catalyzes the dehydration of 2-phosphoglycerate to phosphoenolpyruvate. It is highly expressed in neurons and essential for normal brain energy metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ENO4 Knockout HEK293 Cell Line | EDJ-KQ1515 | Human | 387712 | Details Get a Quote |
| ENO4 Knockout HeLa Cell Line | EDJ-KQ59984 | Human | 387712 | Details Get a Quote |
| ENO4 Knockout A-549 Cell Line | EDJ-KQ68446 | Human | 387712 | Details Get a Quote |
| ENO4 Knockout HCT 116 Cell Line | EDJ-KQ76823 | Human | 387712 | Details Get a Quote |
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