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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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HELT
helt bHLH transcription factor
Chromosome 4 · 4q35.1
NCBI Gene: 391723Ensembl: ENSG00000187821.9HGNC: HGNC:33783UniProt: A6NFD8
15PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA polymerase II cis-regulatory region sequence-specific DNA bindingNotch signaling pathwayanterior/posterior pattern specificationregulation of neurogenesisneurodegenerative diseasesialadenitisCalcium oxalate nephrolithiasisintestinal disease
✦AI Summary

Insufficient information available. The provided PubMed abstracts do not contain data supporting a gene function summary for HELT (helt bHLH transcription factor). The abstracts primarily discuss unrelated topics: Drosophila genome sequencing 1, hepatitis C treatment 2, lung transplantation programs 34, autism research 5, and cardiovascular risk stratification using the HELT-E2S2 clinical scoring system for stroke risk in atrial fibrillation patients 67, which is distinct from the HELT gene. One abstract addresses biliary atresia outcomes 8, also unrelated to HELT gene function. To provide an accurate, evidence-based summary of HELT's role as a bHLH transcription factor with E-box binding activity and involvement in developmental pathways (anterior/posterior patterning, neurogenesis regulation, and Notch signaling), peer-reviewed studies specifically investigating this gene's molecular mechanisms and biological functions would be required.

⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.31Weak
sialadenitisOpen Targets
0.28Weak
Calcium oxalate nephrolithiasisOpen Targets
0.24Weak
intestinal diseaseOpen Targets
0.11Weak
vascular diseaseOpen Targets
0.11Weak
cholelithiasisOpen Targets
0.10Suggestive
pericarditisOpen Targets
0.06Suggestive
paralytic strabismusOpen Targets
0.06Suggestive
placental retentionOpen Targets
0.06Suggestive
placenta praeviaOpen Targets
0.06Suggestive
smoking initiationOpen Targets
0.06Suggestive
attention deficit hyperactivity disorderOpen Targets
0.05Suggestive
developmental and epileptic encephalopathy, 9Open Targets
0.05Suggestive
spondylolisthesisOpen Targets
0.05Suggestive
genetic developmental and epileptic encephalopathyOpen Targets
0.05Suggestive
autosomal dominant epilepsy with auditory featuresOpen Targets
0.05Suggestive
cancerOpen Targets
0.04Suggestive
undetermined early-onset epileptic encephalopathyOpen Targets
0.04Suggestive
Generalized epilepsy with febrile seizures-plusOpen Targets
0.04Suggestive
X-linked intellectual disability - epilepsyOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SLC6A7Protein interaction80%HES2Shared pathway67%HES6Shared pathway67%HES3Shared pathway67%HES7Shared pathway50%BHLHE41Shared pathway33%
Tissue Expression6 tissues
Lung
100%
Brain
22%
Bone Marrow
0%
Liver
0%
Ovary
0%
Heart
0%
Gene Interaction Network
Click a node to explore
HELTSLC6A7HES2HES6HES3HES7BHLHE41
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt A6NFD8
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.86LoF Tolerant
pLIⓘ
0.07Tolerant
Observed/Expected LoF0.49 [0.29–0.86]
RankingsWhere HELT stands among ~20K protein-coding genes
  • #15,586of 20,598
    Most Researched15
  • #7,492of 17,882
    Most Constrained (LOEUF)0.86
Genes detectedHELT
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The genome sequence of Drosophila melanogaster.
PMID: 10731132
Science · 2000
1.00
2
[Not Available].
PMID: 38235776
Ugeskr Laeger · 2024
0.90
3
Impact of a high emergency lung transplantation programme for cystic fibrosis in France: insight from a comparison with Canada.
PMID: 34140297
Eur Respir J · 2022
0.80
4
Facilitating Autism Research.
PMID: 29198284
J Int Neuropsychol Soc · 2017
0.70
5
Choosing Between HELT-E
PMID: 37648455
Circ J · 2023
0.60