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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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HELZ
helicase with zinc finger
Chromosome 17 · 17q24.2
NCBI Gene: 9931Ensembl: ENSG00000198265.12HGNC: HGNC:16878UniProt: A0A2P0H7U5
87PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA bindingprotein bindingCCR4-NOT complex bindingpositive regulation of cell population proliferationHypercholesterolemiaautoimmune thyroid diseasemajor depressive disorderAbnormal brain morphology
✦AI Summary

HELZ is an ATP-dependent RNA helicase that functions as a key regulator of mRNA stability and translation. Its primary function involves promoting mRNA degradation through direct association with the CCR4-NOT deadenylase complex, which mediates deadenylation, decapping, and subsequent degradation of target mRNAs 1. Beyond mRNA decay, HELZ can independently repress translation in a manner dependent on both the CCR4-NOT complex and the helicase DDX6 1. At the cellular level, HELZ promotes cell proliferation, translation initiation, and ribosomal protein S6 (RPS6) phosphorylation 2. HELZ overexpression activates global protein translation, while its suppression reduces translational initiation and causes polysome disassembly, ultimately decreasing cell proliferation 2. Clinically, HELZ shows relevance in multiple disease contexts. Reduced HELZ expression correlates with improved FOLFOX chemotherapy response in metastatic colorectal cancer 3. Additionally, HELZ dysregulation appears significant in neuromyelitis optica spectrum disorder, where lnc-HELZ-7:1 was identified as a potential disease biomarker 4. HELZ mutations have been detected in papillary thyroid microcarcinoma associated with lymph node metastasis 5, and HELZ dysregulation may contribute to cardiomyocyte stress under hypoxic conditions 6.

Sources cited
1
HELZ directly interacts with CCR4-NOT deadenylase complex to mediate mRNA decay and translational repression
PMID: 31570513
2
HELZ promotes cell proliferation, translation initiation, and RPS6 phosphorylation through effects on global protein translation
PMID: 21765940
3
HELZ expression is downregulated in FOLFOX responders compared to nonresponders in metastatic colorectal cancer
PMID: 31893575
4
lnc-HELZ-7:1 is a potential disease biomarker for neuromyelitis optica spectrum disorder in peripheral blood mononuclear cells
PMID: 35689955
5
HELZ mutations are detected in papillary thyroid microcarcinoma with lateral lymph node metastasis
PMID: 34731936
6
HELZ is involved in miRNA-mRNA interactions relevant to hypoxic cardiomyocyte stress
PMID: 30226555
Disease Associationsⓘ20
HypercholesterolemiaOpen Targets
0.40Moderate
autoimmune thyroid diseaseOpen Targets
0.31Weak
major depressive disorderOpen Targets
0.27Weak
Abnormal brain morphologyOpen Targets
0.27Weak
attention deficit hyperactivity disorderOpen Targets
0.25Weak
substance abuseOpen Targets
0.25Weak
systemic lupus erythematosusOpen Targets
0.25Weak
ovarian neoplasmOpen Targets
0.23Weak
breast cancerOpen Targets
0.21Weak
smoking initiationOpen Targets
0.18Weak
pervasive developmental disorderOpen Targets
0.12Weak
Rare pervasive developmental disorderOpen Targets
0.12Weak
liver diseaseOpen Targets
0.03Suggestive
ovarian dysfunctionOpen Targets
0.03Suggestive
placental retentionOpen Targets
0.03Suggestive
frozen shoulderOpen Targets
0.03Suggestive
CholecystitisOpen Targets
0.02Suggestive
cholelithiasisOpen Targets
0.02Suggestive
systemic inflammatory response syndromeOpen Targets
0.02Suggestive
alopecia areataOpen Targets
0.02Suggestive
Pathogenic Variants1
NM_014877.4(HELZ):c.3322A>G (p.Ile1108Val)Likely pathogenic
Abnormal brain morphology
★☆☆☆→ Residue 1108
View on ClinVar ↗
Related Genes
RC3H1Protein interaction94%SMYD3Protein interaction86%CNOT1Protein interaction83%NKX2-8Protein interaction83%PHF3Protein interaction79%RC3H2Protein interaction78%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
68%
Lung
59%
Liver
57%
Brain
55%
Heart
47%
Gene Interaction Network
Click a node to explore
HELZRC3H1SMYD3CNOT1NKX2-8PHF3RC3H2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P42694
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.16Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.11 [0.07–0.16]
RankingsWhere HELZ stands among ~20K protein-coding genes
  • #5,486of 20,598
    Most Researched87
  • #4,934of 5,498
    Most Pathogenic Variants1
  • #256of 17,882
    Most Constrained (LOEUF)0.16 · top 5%
Genes detectedHELZ
Sources retrieved10 papers
Response time—
📄 Sources
10â–¼
1
FOLFOX treatment response prediction in metastatic or recurrent colorectal cancer patients via machine learning algorithms.
PMID: 31893575
Cancer Med · 2020
1.00
2
HELZ directly interacts with CCR4-NOT and causes decay of bound mRNAs.
PMID: 31570513
Life Sci Alliance · 2019
0.90
3
Altered non-coding RNA profiles and potential disease marker identification in peripheral blood mononuclear cells of patients with NMOSD.
PMID: 35689955
Int Immunopharmacol · 2022
0.80
4
The putative RNA helicase HELZ promotes cell proliferation, translation initiation and ribosomal protein S6 phosphorylation.
PMID: 21765940
PLoS One · 2011
0.70
5
Transcriptomic Analysis of Laying Hens Revealed the Role of Aging-Related Genes during Forced Molting.
PMID: 34828373
Genes (Basel) · 2021
0.60