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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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BHLHE41
basic helix-loop-helix family member e41
Chromosome 12 · 12p12.1
NCBI Gene: 79365Ensembl: ENSG00000123095.7HGNC: HGNC:16617UniProt: Q8TAT1
74PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
bHLH transcription factor bindingnegative regulation of transcription by RNA polymerase IIprotein heterodimerization activityE-box bindingneurodegenerative diseasedisorder of earsensorineural hearing losshypertension
✦AI Summary

BHLHE41 is a basic helix-loop-helix transcriptional repressor with diverse roles in physiological processes and disease. Its primary function involves circadian rhythm regulation, where it acts as the negative limb of an autoregulatory feedback loop distinct from the PER/CRY loop 1. The protein functions by competing with CLOCK-BMAL1 heterodimers for E-box element binding in target gene promoters, thereby repressing clock gene expression 1. BHLHE41 also regulates tissue-specific processes including myogenesis, adipogenesis, and macrophage function 2. In pathological contexts, BHLHE41 demonstrates context-dependent roles. In colorectal cancer, METTL3-mediated m6A modification promotes BHLHE41 expression, which subsequently induces CXCL1 transcription to enhance immunosuppressive myeloid-derived suppressor cell migration 3. Conversely, in breast cancer, BHLHE41 acts as a tumor suppressor by inhibiting cell invasion through suppression of the MAPK/JNK signaling pathway and epithelial-mesenchymal transition markers 4. In neurodegeneration, BHLHE40/41 regulate microglial responses in lipid-rich tissues, with their loss increasing cholesterol clearance and lysosomal processing capacity 5. Additionally, O-GlcNAcylation of upstream circadian proteins can induce BHLHE41 expression, contributing to diabetes-associated cognitive impairment 1.

Sources cited
1
BHLHE41 acts as negative limb of autoregulatory feedback loop in circadian rhythm regulation and can be induced by O-GlcNAcylation of Bmal1
PMID: 39375536
2
BHLHE41 is involved in regulation of myogenesis, adipogenesis, circadian rhythms and tissue-specific functions
PMID: 39254779
3
METTL3 promotes BHLHE41 expression via m6A modification, leading to CXCL1 transcription and MDSC migration in colorectal cancer
PMID: 35700773
4
BHLHE41 suppresses breast cancer cell invasion by inhibiting MAPK/JNK signaling pathway and EMT markers
PMID: 32073238
5
BHLHE40/41 regulate microglial responses in lipid-rich tissues, with loss increasing cholesterol clearance and lysosomal capacity
PMID: 38448474
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.33Weak
disorder of earOpen Targets
0.33Weak
sensorineural hearing lossOpen Targets
0.32Weak
hypertensionOpen Targets
0.14Weak
diabetes mellitusOpen Targets
0.11Weak
type 2 diabetes mellitusOpen Targets
0.11Weak
MenorrhagiaOpen Targets
0.11Weak
neoplasmOpen Targets
0.10Suggestive
androgenetic alopeciaOpen Targets
0.09Suggestive
endometrial cancerOpen Targets
0.09Suggestive
atrial fibrillationOpen Targets
0.09Suggestive
kidney cancerOpen Targets
0.09Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.08Suggestive
osteosarcomaOpen Targets
0.08Suggestive
OligomenorrheaOpen Targets
0.08Suggestive
acute myeloid leukemiaOpen Targets
0.08Suggestive
oral squamous cell carcinomaOpen Targets
0.08Suggestive
renal cell carcinomaOpen Targets
0.08Suggestive
atrial flutterOpen Targets
0.07Suggestive
breast cancerOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TIMELESSProtein interaction100%CRY1Protein interaction98%CRY2Protein interaction98%CSNK1EProtein interaction98%NFIL3Protein interaction98%NPAS2Protein interaction98%
Tissue Expression6 tissues
Brain
100%
Heart
75%
Lung
17%
Ovary
15%
Bone Marrow
5%
Liver
1%
Gene Interaction Network
Click a node to explore
BHLHE41TIMELESSCRY1CRY2CSNK1ENFIL3NPAS2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8TAT1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.22LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.79 [0.53–1.22]
RankingsWhere BHLHE41 stands among ~20K protein-coding genes
  • #6,382of 20,598
    Most Researched74
  • #12,825of 17,882
    Most Constrained (LOEUF)1.22
Genes detectedBHLHE41
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
METTL3 Inhibits Antitumor Immunity by Targeting m
PMID: 35700773
Gastroenterology · 2022
1.00
2
BHLHE40/41 regulate microglia and peripheral macrophage responses associated with Alzheimer's disease and other disorders of lipid-rich tissues.
PMID: 38448474
Nat Commun · 2024
0.90
3
BHLHE41, a transcriptional repressor involved in physiological processes and tumor development.
PMID: 39254779
Cell Oncol (Dordr) · 2025
0.80
4
Approach to Functions of
PMID: 37511489
Int J Mol Sci · 2023
0.70
5
Epigenomic charting and functional annotation of risk loci in renal cell carcinoma.
PMID: 36681680
Nat Commun · 2023
0.60