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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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HEYL
hes related family bHLH transcription factor with YRPW motif like
Chromosome 1 · 1p34.2
NCBI Gene: 26508Ensembl: ENSG00000163909.9HGNC: HGNC:4882UniProt: B4DU20
40PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
AF-1 domain bindingDNA-binding transcription factor activity, RNA polymerase II-specificDNA-binding transcription repressor activity, RNA polymerase II-specificnucleusneurodegenerative diseaseneoplasmgastric cancerCOVID-19
✦AI Summary

HEYL is a basic helix-loop-helix (bHLH) transcription factor that belongs to the hairy and Enhancer-of-split related gene family with YRPW motif 1. As a transcriptional repressor, HEYL binds preferentially to canonical E box sequences and functions as a downstream effector of Notch signaling. The protein plays critical roles in cardiovascular development and neural differentiation. In human fetal neural stem cells, LSD1-mediated repression of HEYL expression is essential for neuronal differentiation, as HEYL overexpression inhibits neurogenesis 2. Importantly, HEYL demonstrates significant oncogenic properties in breast cancer through dual mechanisms: it promotes tumor angiogenesis by directly binding to and upregulating proangiogenic cytokines CXCL1/2/3 in cancer cells, while also contributing to neoangiogenesis when expressed in tumor endothelium 3. HEYL-deficient mice show impaired vessel development, confirming its role in angiogenesis 3. The gene maps to chromosome 1.3 and represents a potential therapeutic target, as combination therapy targeting HEYL-induced angiogenic factors with anti-VEGF treatment shows enhanced efficacy in breast cancer models 3.

Sources cited
1
HEYL is a bHLH transcription factor in the hairy-related gene family, maps to chromosome 1p34.3
PMID: 10860664
2
LSD1-mediated repression of HEYL is required for neuronal differentiation of human fetal neural stem cells
PMID: 27018646
3
HEYL promotes breast cancer angiogenesis by upregulating CXCL1/2/3 cytokines and functions in both tumor cells and endothelium
PMID: 33520697
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.46Moderate
neoplasmOpen Targets
0.10Suggestive
gastric cancerOpen Targets
0.08Suggestive
COVID-19Open Targets
0.07Suggestive
colorectal carcinomaOpen Targets
0.07Suggestive
posterior cortical atrophyOpen Targets
0.06Suggestive
breast cancerOpen Targets
0.05Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.05Suggestive
self-injurious ideationOpen Targets
0.05Suggestive
diabetes mellitusOpen Targets
0.03Suggestive
hepatocellular carcinomaOpen Targets
0.03Suggestive
Alzheimer diseaseOpen Targets
0.03Suggestive
lung cancerOpen Targets
0.02Suggestive
colorectal cancerOpen Targets
0.02Suggestive
autismOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
esophageal squamous cell carcinomaOpen Targets
0.01Suggestive
clear cell renal carcinomaOpen Targets
0.01Suggestive
prostate cancerOpen Targets
0.01Suggestive
lung adenocarcinomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MAML3Protein interaction99%MAML2Protein interaction98%NOTCH3Protein interaction84%MAML1Protein interaction84%PGGT1BProtein interaction77%HEY1Protein interaction66%
Tissue Expression6 tissues
Heart
100%
Lung
32%
Ovary
15%
Liver
8%
Brain
8%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
HEYLMAML3MAML2NOTCH3MAML1PGGT1BHEY1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9NQ87
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.25LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.77 [0.49–1.25]
RankingsWhere HEYL stands among ~20K protein-coding genes
  • #10,181of 20,598
    Most Researched40
  • #13,183of 17,882
    Most Constrained (LOEUF)1.25
Genes detectedHEYL
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Extracorporeal Life Support in Infarct-Related Cardiogenic Shock.
PMID: 37634145
N Engl J Med · 2023
1.00
2
Integrative RNA profiling of TBEV-infected neurons and astrocytes reveals potential pathogenic effectors.
PMID: 35685361
Comput Struct Biotechnol J · 2022
0.90
3
Characterization of the human and mouse HEY1, HEY2, and HEYL genes: cloning, mapping, and mutation screening of a new bHLH gene family.
PMID: 10860664
Genomics · 2000
0.80
4
De-escalated neoadjuvant pertuzumab plus trastuzumab therapy with or without weekly paclitaxel in HER2-positive, hormone receptor-negative, early breast cancer (WSG-ADAPT-HER2+/HR-): survival outcomes from a multicentre, open-label, randomised, phase 2 trial.
PMID: 35405088
Lancet Oncol · 2022
0.70
5
LSD1 Mediates Neuronal Differentiation of Human Fetal Neural Stem Cells by Controlling the Expression of a Novel Target Gene, HEYL.
PMID: 27018646
Stem Cells · 2016
0.60