NEUROD6: A Key Neurogenic Basic Helix-Loop-Helix Transcription Factor
Essential regulator of neuronal differentiation and central nervous system development
Gene Information Card
| Symbol | NEUROD6 |
|---|---|
| Full Name | Neuronal Differentiation 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 7p14.3 |
| NCBI Gene ID | 63974 ncbi.nlm.nih.gov/gene/63974 |
| Ensembl ID | ENSG00000105835 |
| UniProt ID | Q96SF7 |
| OMIM ID | 611082 |
| HGNC ID | 13899 |
| Aliases | Atoh2, bHLHa2, MATH2, NEX1M, NeuroD6 |
Description
NEUROD6 (Neuronal Differentiation 6) is a member of the NeuroD family of basic helix-loop-helix (bHLH) transcription factors. It plays a critical role in neuronal differentiation, particularly in the development of the central nervous system. NEUROD6 regulates the expression of genes involved in neurogenesis, neuronal maturation, and synaptic function. It is expressed predominantly in the brain and is essential for the proper formation of cortical and hippocampal neurons.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual Disability | Loss-of-function variants in NEUROD6 impair neuronal differentiation, leading to neurodevelopmental delay. | ClinVar, OMIM |
| Autism Spectrum Disorder | Rare missense variants may disrupt bHLH dimerization and DNA binding, affecting target gene activation. | ClinVar, literature |
| Epileptic Encephalopathy | De novo mutations in NEUROD6 associated with early-onset seizures and developmental regression. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | High |
| Brain (hippocampus) | 11.8 | High |
| Brain (cerebellum) | 8.2 | Medium |
| Spinal cord | 5.1 | Medium |
| Testis | 0.3 | Low |
| Heart | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression; used as model for neuronal differentiation |
| SK-N-SH (neuroblastoma) | 10.8 | High expression |
| U-87 MG (glioblastoma) | 2.1 | Low expression |
| HEK293 (embryonic kidney) | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.502C>T (p.Arg168Trp) | Missense | <0.01% | Loss of DNA-binding activity; associated with intellectual disability |
| c.325G>A (p.Glu109Lys) | Missense | <0.01% | Impaired dimerization; reported in autism spectrum disorder |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Complete loss of protein; severe neurodevelopmental phenotype |
Mutation functional classification
Loss of Function (LOF)
Most pathogenic NEUROD6 variants are loss-of-function, leading to haploinsufficiency or impaired transcriptional activity.
Gain of Function (GOF)
No gain-of-function mutations have been reported for NEUROD6.
Dominant Negative (DN)
Some missense variants (e.g., p.Arg168Trp) may act in a dominant-negative manner by forming nonfunctional dimers with wild-type protein.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Neurogenesis (Gene Ontology)
• bHLH transcription factor network (Reactome)
• Notch signaling pathway (KEGG) – cross-regulation
Protein Summary
NEUROD6 is a 383-amino acid basic helix-loop-helix (bHLH) transcription factor. It contains a bHLH domain (residues 108–159) required for DNA binding and dimerization with E-proteins (e.g., TCF3, TCF4). The protein localizes to the nucleus and activates transcription of neuronal genes such as NEUROD1, NEUROD2, and SYT4. NEUROD6 is essential for the differentiation of neural progenitor cells into mature neurons, particularly in the cerebral cortex and hippocampus. Post-translational modifications include phosphorylation, which may regulate its stability and activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NEUROD6 Knockout HEK293 Cell Line | EDJ-KQ3895 | Human | 63974 | Details Get a Quote |
| NEUROD6 Knockout HeLa Cell Line | EDJ-KQ57008 | Human | 63974 | Details Get a Quote |
| NEUROD6 Knockout A-549 Cell Line | EDJ-KQ65513 | Human | 63974 | Details Get a Quote |
| NEUROD6 Knockout HCT 116 Cell Line | EDJ-KQ73950 | Human | 63974 | Details Get a Quote |
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