NEUROD2 Gene
Neuronal Differentiation 2
Gene Information Card
| Symbol | NEUROD2 |
|---|---|
| Full Name | Neuronal Differentiation 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q24.3 |
| NCBI Gene ID | 4761 ncbi.nlm.nih.gov/gene/4761 |
| Ensembl ID | ENSG00000129195 |
| UniProt ID | Q15784 |
| OMIM ID | 601725 |
| HGNC ID | 7763 |
| Aliases | bHLHa1, NDRF, NeuroD2 |
Description
NEUROD2 (Neuronal Differentiation 2) is a basic helix-loop-helix (bHLH) transcription factor that plays a critical role in neuronal differentiation, maturation, and survival. It regulates the expression of genes involved in synaptic plasticity, neurogenesis, and neuronal migration. Mutations in NEUROD2 are associated with neurodevelopmental disorders including epileptic encephalopathy and intellectual disability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epileptic encephalopathy, early infantile, 72 (EIEE72) | Loss-of-function mutations impair neuronal differentiation and synaptic gene expression, leading to seizures and developmental delay. | ClinVar, OMIM #617389 |
| Intellectual disability, autosomal dominant 72 (MRD72) | Heterozygous missense or nonsense variants disrupt DNA binding and transactivation, affecting cognitive development. | ClinVar, OMIM #617389 |
| Neurodevelopmental disorder with or without seizures | De novo variants in NEUROD2 cause a spectrum of developmental delay, autism features, and epilepsy. | ClinVar, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Cerebral cortex | 15.2 | High |
| Cerebellum | 10.8 | High |
| Hippocampus | 14.1 | High |
| Testis | 0.3 | Low |
| Heart | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.7 | Neuronal lineage, high expression |
| U-87 MG (glioblastoma) | 2.1 | Moderate expression |
| HEK 293 (embryonic kidney) | 0.0 | Not expressed |
| HepG2 (liver) | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.604C>T (p.Arg202*) | Nonsense | Rare | Loss of function; truncated protein lacking bHLH domain |
| c.371G>A (p.Arg124Gln) | Missense | Rare | Impaired DNA binding and transactivation |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein production; complete loss of function |
| c.838C>T (p.Arg280Trp) | Missense | Rare | Reduced nuclear localization and transcriptional activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss mutations lead to truncated or absent protein, impairing neuronal differentiation and causing epileptic encephalopathy.
Gain of Function (GOF)
No gain-of-function mutations reported for NEUROD2.
Dominant Negative (DN)
Some missense variants (e.g., p.Arg124Gln) may act in a dominant-negative manner by dimerizing with wild-type bHLH partners but failing to bind DNA.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Neuronal differentiation pathway (REACT:R-HSA-5617472)
• Transcriptional regulation by bHLH factors (REACT:R-HSA-9616222)
Protein Summary
NEUROD2 is a 382-amino acid transcription factor containing a basic helix-loop-helix (bHLH) domain that mediates DNA binding and dimerization. It forms heterodimers with E12/E47 proteins and binds to E-box sequences (CANNTG) to activate genes essential for neuronal differentiation, including those encoding synaptic proteins and ion channels. The protein is predominantly expressed in the brain, especially in the cerebral cortex, hippocampus, and cerebellum. Loss of function leads to severe neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NEUROD2 Knockout HEK293 Cell Line | EDJ-KQ5332 | Human | 4761 | Details Get a Quote |
| NEUROD2 Knockout HeLa Cell Line | EDJ-KQ53986 | Human | 4761 | Details Get a Quote |
| NEUROD2 Knockout A-549 Cell Line | EDJ-KQ62477 | Human | 4761 | Details Get a Quote |
| NEUROD2 Knockout HCT 116 Cell Line | EDJ-KQ70944 | Human | 4761 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
