NEUROD4 Gene - Neurogenic Differentiation 4
Basic helix-loop-helix transcription factor involved in neurogenesis and pancreatic development
Gene Information Card
| Symbol | NEUROD4 |
|---|---|
| Full Name | Neuronal Differentiation 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q13.12 |
| NCBI Gene ID | 58158 ncbi.nlm.nih.gov/gene/58158 |
| Ensembl ID | ENSG00000174469 |
| UniProt ID | Q9HD90 |
| OMIM ID | 611223 |
| HGNC ID | 13805 |
| Aliases | Atoh3, MATH-3, bHLHa3 |
Description
NEUROD4 (Neurogenic Differentiation 4) is a member of the basic helix-loop-helix (bHLH) family of transcription factors. It plays a critical role in neuronal differentiation and development, particularly in the formation of the nervous system and pancreatic endocrine cells. NEUROD4 acts as a transcriptional activator by binding to E-box sequences in target gene promoters.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neuroblastoma | Altered NEUROD4 expression may contribute to impaired neuronal differentiation | Limited evidence from expression studies |
| Pancreatic neuroendocrine tumors | Potential role in endocrine cell differentiation | Expression profiling studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Pancreas | 8.2 | Low |
| Testis | 3.1 | Low |
| Spinal cord | 15.0 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 5.4 | Neuronal model |
| PANC-1 (pancreatic) | 2.1 | Pancreatic cancer line |
| HEK293 (embryonic kidney) | 0.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Potential loss of start codon |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Neurogenesis (REACT:13685)
• Transcriptional regulation of pancreatic development
Protein Summary
NEUROD4 is a 338-amino acid protein containing a basic helix-loop-helix domain that mediates DNA binding and dimerization. It forms heterodimers with other bHLH proteins to regulate transcription of genes involved in neuronal and endocrine cell differentiation. The protein is predominantly nuclear and is expressed in developing and adult neural tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NEUROD4 Knockout HEK293 Cell Line | EDJ-KQ14412 | Human | 58158 | Details Get a Quote |
| NEUROD4 Knockout HeLa Cell Line | EDJ-KQ56931 | Human | 58158 | Details Get a Quote |
| NEUROD4 Knockout A-549 Cell Line | EDJ-KQ65436 | Human | 58158 | Details Get a Quote |
| NEUROD4 Knockout HCT 116 Cell Line | EDJ-KQ73874 | Human | 58158 | Details Get a Quote |
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