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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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HELZ2
helicase with zinc finger 2
Chromosome 20 · 20q13.33
NCBI Gene: 85441Ensembl: ENSG00000130589.16HGNC: HGNC:30021UniProt: A0AAA9XBX5
52PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of transcription by RNA polymerase IIprotein bindingexoribonuclease II activityRNA helicase activityneurodegenerative diseaseinflammatory bowel diseasecolitisenteritis
✦AI Summary

HELZ2 (helicase with zinc finger 2) is an interferon-stimulated gene encoding a multifunctional RNA-processing enzyme with dual catalytic activities. It contains RNA helicase domains and a 3'-5' exoribonuclease domain, enabling degradation of highly structured RNAs through coordinated ATP-dependent helicase activity and nuclease action with preference for pyrimidine residues 1. Beyond its RNA catalytic functions, HELZ2 acts as a transcriptional coactivator for nuclear receptors including PPARα, PPARγ, and thyroid hormone receptors, interacting with mediator complex components like THRAP3 to enhance ligand-dependent transcriptional activation 2. Clinically, HELZ2 plays diverse roles in disease pathogenesis. It inhibits LINE-1 retrotransposition by degrading L1 RNA and reducing retrotransposition-associated interferon responses 3. In lipid metabolism, HELZ2 directly binds and degrades apoB mRNA through helicase activity, controlling hepatic apoB levels; gain-of-function mutations enhance this activity and protect against atherosclerosis 4. HELZ2 regulates mitochondrial function in diabetic nephropathy via the PPARα-HELZ2-MFN-2 axis 5. Additionally, HELZ2 promotes c-Myc K63-linked polyubiquitination in retinoblastoma tumorigenesis 6, and HELZ2 mutations correlate with endometrial cancer survival 7. These findings establish HELZ2 as a multifunctional regulator with therapeutic potential in cardiovascular, metabolic, and oncologic disease.

Sources cited
1
HELZ2 is a 3'-5' exoribonuclease with RNA helicase domains that degrades structured RNAs with preference for pyrimidine residues; expressed from non-canonical initiation codon; expression induced by interferon
PMID: 37602378
2
HELZ2 inhibits LINE-1 retrotransposition by recognizing L1 5'UTR sequences/structures to reduce L1 RNA and ORF1p levels, and abrogates L1-induced interferon-α expression
PMID: 36639706
3
HELZ2 binds apoB mRNA and degrades it through helicase activity to control hepatic apoB expression and lipid metabolism; gain-of-function mutation enhances helicase activity and protects against atherosclerosis
PMID: 41446920
4
HELZ2 functions as cotranscription factor with PPARα to promote MFN-2 expression, maintaining mitochondrial-ER membrane integrity and mitophagy in diabetic nephropathy context
PMID: 37226722
5
HELZ2 acts as PPARγ coactivator; interacts with THRAP3 (Mediator component) to synergistically enhance PPARγ-mediated transcription in adipocyte differentiation
PMID: 23525231
6
HELZ2 promotes retinoblastoma tumorigenesis by facilitating HUWE1-dependent K63-linked polyubiquitination and activation of c-Myc
PMID: 34761308
7
HELZ2 mutations correlate with overall survival in endometrial cancer patients; HELZ2 regulates multiple immune-related biological processes
PMID: 31787999
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.49Moderate
inflammatory bowel diseaseOpen Targets
0.27Weak
colitisOpen Targets
0.26Weak
enteritisOpen Targets
0.26Weak
alcohol drinkingOpen Targets
0.24Weak
ulcerative colitisOpen Targets
0.24Weak
ulcerative proctosigmoiditisOpen Targets
0.23Weak
WheezingOpen Targets
0.19Weak
pneumoniaOpen Targets
0.18Weak
uterine fibroidOpen Targets
0.10Weak
Crohn's diseaseOpen Targets
0.08Suggestive
interstitial lung diseaseOpen Targets
0.05Suggestive
glycogen storage disease VIOpen Targets
0.05Suggestive
prostate cancerOpen Targets
0.05Suggestive
hypoinsulinemic hypoglycemia and body hemihypertrophyOpen Targets
0.04Suggestive
cutaneous melanomaOpen Targets
0.04Suggestive
lipodystrophy, congenital generalized, type 5Open Targets
0.04Suggestive
diabetes mellitusOpen Targets
0.04Suggestive
idiopathic pulmonary fibrosisOpen Targets
0.04Suggestive
glycogen storage disease IXcOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
EXOSC10Protein interaction100%EXOSC3Protein interaction100%EXOSC4Protein interaction100%EXOSC6Protein interaction100%EXOSC8Protein interaction100%PPARGProtein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
65%
Liver
42%
Brain
30%
Ovary
23%
Heart
15%
Gene Interaction Network
Click a node to explore
HELZ2EXOSC10EXOSC3EXOSC4EXOSC6EXOSC8PPARG
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9BYK8
View on AlphaFold ↗
RankingsWhere HELZ2 stands among ~20K protein-coding genes
  • #8,560of 20,598
    Most Researched52
Genes detectedHELZ2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The interferon stimulated gene-encoded protein HELZ2 inhibits human LINE-1 retrotransposition and LINE-1 RNA-mediated type I interferon induction.
PMID: 36639706
Nat Commun · 2023
1.00
2
HELZ2: a new, interferon-regulated, human 3'-5' exoribonuclease of the RNB family is expressed from a non-canonical initiation codon.
PMID: 37602378
Nucleic Acids Res · 2023
0.90
3
DsbA-L alleviates tubular injury in diabetic nephropathy by activating mitophagy through maintenance of MAM integrity.
PMID: 37226722
Clin Sci (Lond) · 2023
0.80
4
HELZ2 Regulates
PMID: 41446920
Circulation · 2026
0.70
5
Author Correction: The interferon stimulated gene-encoded protein HELZ2 inhibits human LINE-1 retrotransposition and LINE-1 RNA-mediated type I interferon induction.
PMID: 36717557
Nat Commun · 2023
0.60