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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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DHX34
DExH-box helicase 34
Chromosome 19 Β· 19q13.32
NCBI Gene: 9704Ensembl: ENSG00000134815.21HGNC: HGNC:16719UniProt: Q14147
39PubMed Papers
20Diseases
0Drugs
3Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nuclear-transcribed mRNA catabolic processnegative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decaymembraneprotein-containing complex bindingNeurodevelopmental disorderneurodegenerative diseaseIntellectual disabilityNeurodevelopmental delay
✦AI Summary

DHX34 is an ATP-binding RNA helicase that functions primarily in nonsense-mediated decay (NMD), a quality control mechanism degrading mRNAs with premature stop codons 1. DHX34 promotes UPF1 phosphorylation and interacts with key NMD proteins UPF2 and EIF4A3 to facilitate mRNA degradation 2. Beyond NMD, DHX34 associates with the spliceosomal C complex and regulates alternative splicing at exon-intron boundaries, establishing a dual role in gene expression control 3. DHX34 and NBAS participate in autoregulatory NMD feedback loops that modulate cellular stress response and membrane trafficking pathways across species 4. Clinically, germline DHX34 variants are associated with familial myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) predisposition 5. DHX34 loss-of-function impairs hematopoietic differentiation, explaining AML/MDS susceptibility 3. In pan-cancer contexts, DHX34 is highly expressed and correlates with poor prognosis in multiple tumors; cadmium exposure upregulates DHX34 to promote lung cancer progression 6. Conversely, DHX34 deficiency in hepatocellular carcinoma triggers dsRNA accumulation and type I interferon responses, activating anti-tumor immunity 7. These findings suggest DHX34 as a therapeutic target for both cancer prevention and immunotherapy enhancement.

Sources cited
1
DHX34 promotes UPF1 phosphorylation and interaction with NMD pathway proteins UPF2 and EIF4A3
PMID: 25220460
2
DHX34 is required for NMD degradation of PTC-containing mRNAs in vertebrates and zebrafish embryogenesis
PMID: 21227923
3
DHX34 associates with spliceosomal C complex and regulates alternative splicing; germline mutations in familial MDS/AML abrogate NMD activity and impair hematopoietic differentiation
PMID: 35768279
4
DHX34 and NBAS form part of NMD negative feedback regulatory loop and co-regulate endogenous targets involved in stress response and membrane trafficking
PMID: 23828042
5
DHX34 variants identified as novel loci specific to inherited forms of myeloid malignancies in familial MDS/AML
PMID: 32098966
6
Cadmium exposure upregulates DHX34, promoting lung cancer cell proliferation and tumor growth with demonstrated molecular binding
PMID: 40974667
7
DHX34 deficiency triggers dsRNA accumulation and type I interferon pathway activation, enhancing CD8 T cell-mediated anti-tumor immunity in HCC
PMID: 40592235
Disease Associationsβ“˜20
Neurodevelopmental disorderOpen Targets
0.45Moderate
neurodegenerative diseaseOpen Targets
0.37Weak
Intellectual disabilityOpen Targets
0.35Weak
Neurodevelopmental delayOpen Targets
0.35Weak
SeizureOpen Targets
0.30Weak
preeclampsiaOpen Targets
0.29Weak
osteitis deformansOpen Targets
0.27Weak
emphysemaOpen Targets
0.26Weak
Meckel syndromeOpen Targets
0.26Weak
microcephalyOpen Targets
0.26Weak
Polycystic Kidney DiseaseOpen Targets
0.26Weak
postaxial polydactylyOpen Targets
0.26Weak
Reduced renal corticomedullary differentiationOpen Targets
0.26Weak
Short statureOpen Targets
0.26Weak
Unilateral renal agenesisOpen Targets
0.26Weak
acute myeloid leukemiaOpen Targets
0.20Weak
myelodysplastic syndromeOpen Targets
0.19Weak
Moderate intellectual disabilityOpen Targets
0.15Weak
neoplasmOpen Targets
0.09Suggestive
cancerOpen Targets
0.08Suggestive
Pathogenic Variants3
NM_014681.6(DHX34):c.2327G>C (p.Arg776Pro)Pathogenic
Neurodevelopmental delay;Seizure;Intellectual disability|Neurodevelopmental disorders|Neurodevelopmental disorder
β˜…β˜†β˜†β˜†2022β†’ Residue 776
NM_014681.6(DHX34):c.466C>T (p.Gln156Ter)Likely pathogenic
6 conditions|Neurodevelopmental disorders
β˜†β˜†β˜†β˜†2019β†’ Residue 156
NM_014681.6(DHX34):c.1322A>G (p.Asn441Ser)Likely pathogenic
Intellectual disability;Short stature;Neurodevelopmental delay;Microcephaly;Unilateral renal agenesis|Neurodevelopmental disorders
β˜†β˜†β˜†β˜†2019β†’ Residue 441
View on ClinVar β†—
Related Genes
CDC5LProtein interaction100%EFTUD2Protein interaction100%CDC40Protein interaction100%WDR36Protein interaction100%SMG1Protein interaction100%DHX15Protein interaction100%
Tissue Expression6 tissues
Lung
100%
Liver
98%
Ovary
94%
Bone Marrow
72%
Heart
22%
Brain
19%
Gene Interaction Network
Click a node to explore
DHX34CDC5LEFTUD2CDC40WDR36SMG1DHX15
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q14147
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.05LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.89 [0.75–1.05]
RankingsWhere DHX34 stands among ~20K protein-coding genes
  • #10,305of 20,598
    Most Researched39
  • #4,089of 5,498
    Most Pathogenic Variants3
  • #10,457of 17,882
    Most Constrained (LOEUF)1.05
Genes detectedDHX34
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants.
PMID: 32098966
Nat Commun Β· 2020
1.00
2
DHX34 as a promising biomarker for prognosis, immunotherapy and chemotherapy in Pan-Cancer: A Comprehensive Analysis and Experimental Validation.
PMID: 39668816
J Cancer Β· 2024
0.90
3
Environmental cadmium exposure promotes lung cancer via DHX34: A molecular toxicology perspective.
PMID: 40974667
Ecotoxicol Environ Saf Β· 2025
0.80
4
Dhx34 and Nbas function in the NMD pathway and are required for embryonic development in zebrafish.
PMID: 21227923
Nucleic Acids Res Β· 2011
0.70
5
DHX34 deficiency triggers tumor-intrinsic immunity via a dsRNA-mediated type I interferon pathway activation in HCC.
PMID: 40592235
Neoplasia Β· 2025
0.60