HES4 Gene - HES Family BHLH Transcription Factor 4
Comprehensive genomic and functional analysis of HES4, a key regulator in neurogenesis and development.
Gene Information Card
| Symbol | HES4 |
|---|---|
| Full Name | Hes family bHLH transcription factor 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p36.33 |
| NCBI Gene ID | 57801 ncbi.nlm.nih.gov/gene/57801 |
| Ensembl ID | ENSG00000188290 |
| UniProt ID | Q9HCC6 |
| OMIM ID | 607933 |
| HGNC ID | 24921 |
| Aliases | bHLHb42, HES-4, HES4_HUMAN |
Description
HES4 (Hes family bHLH transcription factor 4) is a protein-coding gene located on chromosome 1p36.33. It encodes a basic helix-loop-helix (bHLH) transcriptional repressor that functions as a downstream effector of the Notch signaling pathway. HES4 plays critical roles in neurogenesis, somitogenesis, and cell fate determination by repressing transcription of target genes. It is highly expressed in the developing nervous system and adult brain.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorders | Altered Notch signaling due to HES4 dysregulation may impair neuronal differentiation and migration. | PMID: 25620204 |
| Schizophrenia | HES4 expression changes observed in postmortem brain tissue; potential link to synaptic plasticity. | PMID: 28472622 |
| Cancer (glioma) | HES4 overexpression may promote tumor cell proliferation via Notch pathway activation. | PMID: 31092904 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Cerebellum | 8.3 | Low |
| Heart | 2.1 | Not detected |
| Liver | 0.5 | Not detected |
| Testis | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Neuronal model |
| U87MG (glioblastoma) | 22.8 | Overexpressed |
| HEK293 (embryonic kidney) | 3.4 | Low expression |
| HepG2 (hepatocellular carcinoma) | 1.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon; functional impact unknown |
| c.214C>T (p.Arg72Cys) | Missense | 0.02% | May alter DNA-binding affinity |
| c.487_489del (p.Lys163del) | In-frame deletion | <0.01% | Deletion in bHLH domain; predicted to impair dimerization |
Mutation functional classification
Loss of Function (LOF)
Mutations disrupting the bHLH domain or start codon likely impair transcriptional repressor activity.
Gain of Function (GOF)
Not well documented; overexpression in glioma may suggest oncogenic potential.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Notch signaling pathway (KEGG hsa04330)
• Developmental biology (Reactome R-HSA-1266738)
Protein Summary
HES4 is a 281-amino acid protein containing a bHLH domain and an Orange domain. It forms homodimers or heterodimers with other HES family members and binds to N-box DNA sequences (CACNAG) to repress transcription. The protein is predominantly nuclear and is regulated by Notch signaling. HES4 is essential for maintaining neural progenitor cells and regulating the timing of neurogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HES4 Knockout HEK293 Cell Line | EDJ-KQ51591 | Human | 57801 | Details Get a Quote |
| HES4 Knockout HeLa Cell Line | EDJ-KQ56917 | Human | 57801 | Details Get a Quote |
| HES4 Knockout A-549 Cell Line | EDJ-KQ65425 | Human | 57801 | Details Get a Quote |
| HES4 Knockout HCT 116 Cell Line | EDJ-KQ73862 | Human | 57801 | Details Get a Quote |
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