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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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HES2
hes family bHLH transcription factor 2
Chromosome 1 · 1p36.31
NCBI Gene: 54626Ensembl: ENSG00000069812.12HGNC: HGNC:16005UniProt: Q9Y543
14PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
sequence-specific double-stranded DNA 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 diseasecentral nervous system canceralcohol drinkingacute lymphoblastic leukemia
✦AI Summary

HES2 is a basic helix-loop-helix (bHLH) transcriptional repressor that functions as a key regulator of cell fate determination and differentiation. As a member of the Hairy and Enhancer of split (HES) family, HES2 acts downstream of Notch signaling, where activation of Notch leads to transcriptional upregulation of HES2 through interaction between the Notch intracellular domain and CSL proteins 1. HES2 contains characteristic bHLH, Orange, and proline-rich domains, and functions to suppress tissue-specific transcriptional activators, thereby controlling stem and progenitor cell proliferation and differentiation 12. HES2 expression is detected across diverse tissues including placenta, pancreatic cancer, colon cancer, cervical cancer, and head and neck tumors 1. In normal development, HES2 is crucial for proper hair cell polarization and differentiation in sensory organs 2. Clinically, HES2 emerges as a significant player in cancer biology and reproductive physiology. In colorectal cancer, HES2 functions as a Notch target gene downstream of the tetraspanin-29/ADAM10 axis, with elevated HES2 expression correlating with enhanced oncogenic signaling 3. Additionally, HES2 is identified as a differentially expressed transcription factor regulating estrus and ovulation pathways 4, and is implicated in intestinal enterocyte differentiation and restitution following gastric bypass surgery 5. HES2 also plays roles in polydactyly development, suggesting involvement in developmental patterning 6.

Sources cited
1
HES2 structure, expression patterns, and role as a transcriptional repressor in cell fate determination through Notch signaling
PMID: 15254753
2
HES2 regulation of hair cell progenitor differentiation and polarization in sensory organs
PMID: 40659618
3
HES2 as a Notch target gene in colorectal cancer downstream of tetraspanin-29/ADAM10 signaling
PMID: 35968819
4
HES2 as a differentially expressed transcription factor in estrus and ovulation regulation
PMID: 38007026
5
HES2 increased expression in intestinal enterocytes associated with differentiation and restitution
PMID: 36291149
6
HES2 involvement in keratinocyte formation and polydactyly development
PMID: 38708480
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.49Moderate
central nervous system cancerOpen Targets
0.04Suggestive
alcohol drinkingOpen Targets
0.03Suggestive
acute lymphoblastic leukemiaOpen Targets
0.02Suggestive
Down syndromeOpen Targets
0.02Suggestive
diabetic ketoacidosisOpen Targets
0.02Suggestive
Sensorineural hearing impairmentOpen Targets
0.02Suggestive
leukemiaOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.01Suggestive
lung cancerOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.01Suggestive
endometriosisOpen Targets
0.01Suggestive
melanomaOpen Targets
0.01Suggestive
Crohn's diseaseOpen Targets
0.01Suggestive
neuroblastomaOpen Targets
0.01Suggestive
obesityOpen Targets
0.01Suggestive
cancerOpen Targets
0.00Suggestive
papillary thyroid carcinomaOpen Targets
0.00Suggestive
non-alcoholic steatohepatitisOpen Targets
0.00Suggestive
thyroid cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HES3Shared pathway100%HES6Shared pathway100%HELTShared pathway67%HES7Shared pathway67%HES4Shared pathway50%HOXC6Shared pathway50%
Tissue Expression6 tissues
Lung
100%
Liver
56%
Ovary
50%
Brain
18%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
HES2HES3HES6HELTHES7HES4HOXC6
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9Y543
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.91LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.42 [0.89–1.91]
RankingsWhere HES2 stands among ~20K protein-coding genes
  • #15,888of 20,598
    Most Researched14
  • #17,326of 17,882
    Most Constrained (LOEUF)1.91
Genes detectedHES2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identification and characterization of human HES2, HES3, and HES5 genes in silico.
PMID: 15254753
Int J Oncol · 2004
1.00
2
Stem and progenitor cell proliferation are independently regulated by cell type-specific cyclinD genes.
PMID: 40659618
Nat Commun · 2025
0.90
3
Derivation, characterization, and gene expression profile of two new human ES cell lines from India.
PMID: 20826120
Stem Cell Res · 2010
0.80
4
Tetraspanin-29 activates Notch signaling by interacting with ADAM10 to enhance its activity in colorectal cancer.
PMID: 35968819
Biochem Cell Biol · 2022
0.70
5
Identification and characterization of human HESL, rat Hesl and rainbow trout hesl genes in silico.
PMID: 15375612
Int J Mol Med · 2004
0.60