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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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HES4
hes family bHLH transcription factor 4
Chromosome 1 · 1p36.33
NCBI Gene: 57801Ensembl: ENSG00000188290.11HGNC: HGNC:24149UniProt: D6REB3
22PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingDNA-binding transcription factor activity, RNA polymerase II-specificRNA polymerase II cis-regulatory region sequence-specific DNA bindingnegative regulation of transcription by RNA polymerase IIneurodegenerative diseaseAlzheimer diseaseParkinson diseaselysosomal storage disease
✦AI Summary

HES4 is a basic helix-loop-helix transcriptional repressor that functions as a negative regulator of transcription by binding N-box DNA motifs 1. During human development, HES4 acts as a direct target of GLI3 in brain organoids, participating in dorsoventral patterning and telencephalic fate decisions 1. In hematopoiesis, HES4 functions downstream of NOTCH1 signaling with non-redundant roles distinct from HES1, promoting early T-cell development while suppressing natural killer and myeloid lineages, though it cannot repress B-cell development 2. HES4 also regulates metabolic processes by repressing genes involved in choline oxidation and serine catabolism, thereby maintaining redox balance and supporting pyrimidine synthesis critical for tumor growth 3. In normal tissues, HES4 is essential for photoreceptor development and survival 4. Pathologically, HES4 plays significant roles in cancer progression: it suppresses epithelial-to-mesenchymal transition in colorectal cancer through interaction with BEST4 5, enforces anti-apoptotic p53 isoform expression in T-cell leukemia downstream of NOTCH1 dimeric signaling 6, and promotes hepatocellular carcinoma immunosuppression via SPP1-mediated immune modulation 7. HES4 elevation is associated with poor prognosis in multiple malignancies and inflammatory diseases 8.

Sources cited
1
HES4 is a direct GLI3 target involved in dorsoventral patterning and telencephalic fate decisions during human brain development
PMID: 36198796
2
HES4 is a Notch1 target with non-redundant roles promoting T-cell development while suppressing NK and myeloid lineages
PMID: 31919081
3
HES4 suppresses epithelial-to-mesenchymal transition in colorectal cancer through transcriptional regulation of BEST4
PMID: 39699952
4
HES4 is downstream of NOTCH1 dimeric signaling and enforces anti-apoptotic p53 isoform expression in T-cell leukemia
PMID: 40009499
5
HES4 phosphorylation increases its transcriptional activity to promote immunosuppression in hepatocellular carcinoma
PMID: 39616302
6
HES4 negatively regulates NADH/NAD+ ratio and represses genes involved in choline oxidation and serine deamination to support pyrimidine synthesis
PMID: 38769389
7
HES4 is elevated in pro-inflammatory monocytes associated with acute-on-chronic liver failure progression
PMID: 36626090
8
Her9/HES4 (zebrafish ortholog) is required for photoreceptor subtype specification, differentiation, and survival during retinal development
PMID: 32647335
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.40Weak
Alzheimer diseaseOpen Targets
0.34Weak
Parkinson diseaseOpen Targets
0.33Weak
lysosomal storage diseaseOpen Targets
0.33Weak
multiple sclerosisOpen Targets
0.33Weak
hepatocellular carcinomaOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.07Suggestive
colorectal carcinomaOpen Targets
0.06Suggestive
acute lymphoblastic leukemiaOpen Targets
0.06Suggestive
SepsisOpen Targets
0.04Suggestive
bladder transitional cell carcinomaOpen Targets
0.04Suggestive
atrial fibrillationOpen Targets
0.03Suggestive
osteosarcomaOpen Targets
0.03Suggestive
actinic keratosisOpen Targets
0.03Suggestive
leukemiaOpen Targets
0.02Suggestive
synovial sarcomaOpen Targets
0.02Suggestive
childhood supratentorial ependymomaOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
gliomaOpen Targets
0.02Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HOXA6Shared pathway100%HOXB6Shared pathway100%HOXC5Shared pathway100%HOXC6Shared pathway100%HES2Shared pathway50%HES6Shared pathway50%
Tissue Expression6 tissues
Lung
100%
Ovary
48%
Liver
47%
Heart
27%
Brain
16%
Bone Marrow
10%
Gene Interaction Network
Click a node to explore
HES4HOXA6HOXB6HOXC5HOXC6HES2HES6
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9HCC6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.95LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.62 [1.07–1.95]
RankingsWhere HES4 stands among ~20K protein-coding genes
  • #13,673of 20,598
    Most Researched22
  • #17,644of 17,882
    Most Constrained (LOEUF)1.95
Genes detectedHES4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Inferring and perturbing cell fate regulomes in human brain organoids.
PMID: 36198796
Nature · 2023
1.00
2
HES1 and HES4 have non-redundant roles downstream of Notch during early human T-cell development.
PMID: 31919081
Haematologica · 2021
0.90
3
Bestrophin-4 relays HES4 and interacts with TWIST1 to suppress epithelial-to-mesenchymal transition in colorectal cancer cells.
PMID: 39699952
Elife · 2024
0.80
4
NOTCH1 dimeric signaling is essential for T-cell leukemogenesis and leukemia maintenance.
PMID: 40009499
Blood · 2025
0.70
5
Glycosyltransferase B4GALNT1 promotes immunosuppression in hepatocellular carcinoma via the HES4-SPP1-TAM/Th2 axis.
PMID: 39616302
Mol Biomed · 2024
0.60