HES5 Gene - Hes Family BHLH Transcription Factor 5
Key regulator of neurogenesis and Notch signaling
Gene Information Card
| Symbol | HES5 |
|---|---|
| Full Name | hes family bHLH transcription factor 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p36.32 |
| NCBI Gene ID | 388585 ncbi.nlm.nih.gov/gene/388585 |
| Ensembl ID | ENSG00000197921 |
| UniProt ID | Q5TA89 |
| OMIM ID | 607348 |
| HGNC ID | 19764 |
| Aliases | bHLHb38, HES-5, HES5_HUMAN |
Description
HES5 (hes family bHLH transcription factor 5) is a protein-coding gene that encodes a basic helix-loop-helix (bHLH) transcriptional repressor. It is a key downstream effector of the Notch signaling pathway, playing a critical role in neurogenesis, somitogenesis, and maintenance of neural stem cells. HES5 represses transcription of target genes by binding to N-box motifs, thereby inhibiting neuronal differentiation and promoting progenitor cell maintenance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Dysregulation of Notch-HES5 axis promotes tumor cell proliferation and invasion | PMID: 23555292 |
| Medulloblastoma | HES5 overexpression contributes to aberrant Notch signaling and tumor growth | PMID: 19029981 |
| Alzheimer's disease | Altered HES5 expression may affect neurogenesis and synaptic plasticity | PMID: 21715677 |
| Schizophrenia | HES5 variants associated with altered neurodevelopment | PMID: 24880342 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Cerebellum | 15.3 | Medium |
| Spinal cord | 8.9 | Low |
| Testis | 6.2 | Low |
| Lung | 3.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 18.7 | Neuroblastoma cell line |
| U-87 MG | 22.1 | Glioblastoma cell line |
| MCF7 | 5.4 | Breast cancer cell line |
| HEK293 | 2.3 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Potential loss of function |
| c.154C>T | Nonsense | <0.01% | Premature truncation |
| c.325G>A | Missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Rare nonsense and missense variants predicted to impair DNA binding or dimerization
Gain of Function (GOF)
Not well characterized; overexpression in tumors may act as oncogenic driver
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • GO:0000978 (GO:0000978) | • GO:0000981 (GO:0000981) |
| • GO:0001227 (GO:0001227) | • GO:0005634 (GO:0005634) |
| • GO:0006357 (GO:0006357) | • GO:0008134 (GO:0008134) |
| • GO:0045944 (GO:0045944) |
Pathways
• Notch signaling pathway (KEGG: hsa04330)
• Developmental biology (Reactome: R-HSA-1266738)
Protein Summary
HES5 is a 166-amino acid protein containing a basic helix-loop-helix (bHLH) domain and an Orange domain. It functions as a transcriptional repressor by forming homodimers or heterodimers with other bHLH proteins, binding to N-box sequences (CACNAG) in target gene promoters. HES5 is a primary effector of Notch signaling, repressing proneural genes such as ASCL1 and NEUROG2 to maintain neural progenitor cells in an undifferentiated state. It also plays roles in somitogenesis, boundary formation, and cell fate determination.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HES5 Knockout HEK293 Cell Line | EDJ-KQ11835 | Human | 388585 | Details Get a Quote |
| HES5 Knockout HeLa Cell Line | EDJ-KQ60035 | Human | 388585 | Details Get a Quote |
| HES5 Knockout A-549 Cell Line | EDJ-KQ68497 | Human | 388585 | Details Get a Quote |
| HES5 Knockout HCT 116 Cell Line | EDJ-KQ76874 | Human | 388585 | Details Get a Quote |
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