NEUROG2 (Neurogenin 2) Gene: Function, Expression, and Clinical Relevance
A comprehensive biomedical overview of the NEUROG2 gene, including its role in neurogenesis, associated diseases, expression patterns, and mutations.
Gene Information Card
| Symbol | NEUROG2 |
|---|---|
| Full Name | neurogenin 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q25 |
| NCBI Gene ID | 63973 ncbi.nlm.nih.gov/gene/63973 |
| Ensembl ID | ENSG00000164171 |
| UniProt ID | Q9H2A3 |
| OMIM ID | 606624 |
| HGNC ID | 13805 |
| Aliases | NGN2, bHLHa8, neurogenin-2 |
Description
NEUROG2 (neurogenin 2) is a protein-coding gene that encodes a basic helix-loop-helix (bHLH) transcription factor. It plays a critical role in neurogenesis, specifically in the determination of neuronal fate and differentiation of neural progenitor cells. NEUROG2 is essential for the development of various neuronal subtypes, including glutamatergic neurons in the cerebral cortex and sensory neurons in the peripheral nervous system. It acts as a proneural gene, activating downstream targets that promote neuronal differentiation and inhibit glial differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epileptic encephalopathy, early infantile, 1 | Loss-of-function mutations in NEUROG2 impair neuronal differentiation, leading to abnormal cortical development and seizure disorders. | ClinVar, OMIM |
| Intellectual disability | Heterozygous missense variants in NEUROG2 disrupt DNA binding and transactivation, affecting neurogenesis and cognitive function. | ClinVar, OMIM |
| Microcephaly | Reduced NEUROG2 activity leads to decreased neural progenitor proliferation and smaller brain size. | OMIM, literature |
| Autism spectrum disorder | Rare variants in NEUROG2 have been associated with ASD, possibly through altered neuronal connectivity. | ClinVar, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 0.0 | Not detected (adult; high in fetal brain) |
| Cerebral cortex | 0.0 | Not detected (adult; high in developing cortex) |
| Testis | 0.0 | Not detected |
| Fetal brain | High | High expression during neurodevelopment |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 0.0 | Low/undetectable in undifferentiated; induced upon differentiation |
| SK-N-SH (neuroblastoma) | 0.0 | Low/undetectable |
| iPSC-derived neurons | High | Highly expressed during neuronal differentiation |
| HEK293 | 0.0 | Not expressed |
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 DNA-binding and transactivation; associated with epileptic encephalopathy |
| c.488G>A (p.Arg163Gln) | Missense | Rare | Impaired transcriptional activity; linked to intellectual disability |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of protein expression; likely pathogenic |
| c.832C>T (p.Arg278*) | Nonsense | Rare | Premature truncation; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported NEUROG2 mutations result in loss of function, including impaired DNA binding, reduced transactivation, or protein truncation, leading to haploinsufficiency.
Gain of Function (GOF)
No gain-of-function mutations have been reported for NEUROG2.
Dominant Negative (DN)
Some missense mutations (e.g., p.Arg163Trp) may exert dominant-negative effects by interfering with wild-type NEUROG2 function, though evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • RNA polymerase II cis-regulatory region sequence-specific DNA binding |
| • protein dimerization activity | • positive regulation of neuron differentiation |
| • regulation of neurogenesis | • nervous system development |
| • cell fate specification | • forebrain development |
Pathways
• Proneural gene pathway
• Notch signaling pathway (cross-regulation)
• Neuronal differentiation pathway
• bHLH transcription factor network
Protein Summary
The NEUROG2 protein (neurogenin 2) is a 263-amino acid basic helix-loop-helix (bHLH) transcription factor. It contains a bHLH domain that mediates DNA binding to E-box sequences and dimerization with E proteins. NEUROG2 is primarily expressed in neural progenitor cells during embryonic development, where it promotes neuronal differentiation and suppresses glial fate. It activates downstream targets such as NEUROD1 and TUBB3, and its activity is regulated by Notch signaling. Mutations in NEUROG2 are associated with neurodevelopmental disorders including epileptic encephalopathy and intellectual disability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NEUROG2 Knockout HEK293 Cell Line | EDJ-KQ2386 | Human | 63973 | Details Get a Quote |
| NEUROG2 Knockout HeLa Cell Line | EDJ-KQ57007 | Human | 63973 | Details Get a Quote |
| NEUROG2 Knockout A-549 Cell Line | EDJ-KQ65512 | Human | 63973 | Details Get a Quote |
| NEUROG2 Knockout HCT 116 Cell Line | EDJ-KQ73949 | Human | 63973 | Details Get a Quote |
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