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6 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DHX57
DExH-box helicase 57
Chromosome 2 · 2p22.1
NCBI Gene: 90957Ensembl: ENSG00000163214.22HGNC: HGNC:20086UniProt: Q6P158
103PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingRNA bindinghelicase activityATP hydrolysis activityneurodegenerative diseasesensory perception of smellsmoking initiationalcohol drinking
✦AI Summary

DHX57 is a probable ATP-binding RNA helicase 1 with RNA binding and helicase activity. While its precise molecular function remains incompletely characterized, DHX57 is conserved with DExH-box helicase domains and has been identified as a putative homolog of the yeast translation initiation factor Ylr419wp 1, suggesting a potential role in translation initiation. Clinically, DHX57 emerges as a significant biomarker in male infertility. It was identified as one of seven key genes in a seventeen-gene signature predictive model for non-obstructive azoospermia (NOA), with an area under the curve >0.8 in both testing and validation datasets 2. Notably, DHX57 mRNA is downregulated in NOA testicular samples compared to controls 2. Additionally, DHX57 was identified as a hub gene in comprehensive transcriptomic analysis of NOA sperm 3, and its expression is regulated in the context of aluminum-induced cognitive impairment through zinc-mediated ROCK1 pathway modulation 4. Genetically, a SNP within DHX57 (2p22.1) shows cis-acting effects on cerebellar DHX57 expression levels and associates with epigenetic age acceleration, with gene sets showing overlap with Alzheimer's disease, age-related macular degeneration, and Parkinson's disease 5. DHX57 has also been identified in a complex fusion gene (DHX57:TMEM178:MAP4K3) in pediatric high-grade glioma 6, suggesting potential involvement in oncogenic processes.

Sources cited
1
DHX57 contains conserved DEAH/DExH-box helicase domains and is a putative homolog of yeast Ylr419wp translation initiation factor
PMID: 38585201
2
DHX57 is one of seven key genes in a seventeen-gene NOA predictive model with AUC >0.8, and is downregulated in NOA testicular samples
PMID: 36945018
3
DHX57 is identified as a hub gene in NOA sperm transcriptomic analysis
PMID: 38858625
4
DHX57 expression is downregulated in aluminum-exposed models and involved in zinc-mediated ROCK1 pathway in cognitive impairment
PMID: 38407795
5
SNP in DHX57 (2p22.1) has cis-effect on DHX57 expression and associates with cerebellar epigenetic age acceleration and age-related disease pathways
PMID: 26830004
6
DHX57 is part of a complex fusion gene DHX57:TMEM178:MAP4K3 identified in pediatric high-grade glioma
PMID: 24548782
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.30Weak
sensory perception of smellOpen Targets
0.28Weak
smoking initiationOpen Targets
0.20Weak
alcohol drinkingOpen Targets
0.03Suggestive
oral mucosa leukoplakiaOpen Targets
0.03Suggestive
Abnormality of the gastrointestinal tractOpen Targets
0.03Suggestive
acquired thrombocytopeniaOpen Targets
0.02Suggestive
triple-negative breast cancerOpen Targets
0.00Suggestive
asthmaOpen Targets
0.00Suggestive
azoospermiaOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
colorectal adenocarcinomaOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
ThymomaOpen Targets
0.00Suggestive
urinary bladder cancerOpen Targets
0.00Suggestive
Uterine CarcinosarcomaOpen Targets
0.00Suggestive
uterine corpus endometrial carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
LARP7Protein interaction74%LARP4Shared pathway50%PYM1Shared pathway50%PRR16Shared pathway50%GUF1Shared pathway50%ZCCHC4Shared pathway50%
Tissue Expression6 tissues
Brain
100%
Ovary
83%
Bone Marrow
81%
Heart
70%
Lung
51%
Liver
46%
Gene Interaction Network
Click a node to explore
DHX57LARP7LARP4PYM1PRR16GUF1ZCCHC4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q6P158
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.74LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.62 [0.52–0.74]
RankingsWhere DHX57 stands among ~20K protein-coding genes
  • #4,641of 20,598
    Most Researched103 · top quartile
  • #5,841of 17,882
    Most Constrained (LOEUF)0.74
Genes detectedDHX57
Sources retrieved6 papers
Response time—
📄 Sources
6▼
1
Constructing a seventeen-gene signature model for non-obstructive azoospermia based on integrated transcriptome analyses and WGCNA.
PMID: 36945018
Reprod Biol Endocrinol · 2023
1.00
2
Genetic variants near MLST8 and DHX57 affect the epigenetic age of the cerebellum.
PMID: 26830004
Nat Commun · 2016
0.83
3
YLR419W is the homolog of the mammalian translation initiation factor
PMID: 38585201
MicroPubl Biol · 2024
0.67
4
Zinc as a Mediator Through the ROCK1 Pathway of Cognitive Impairment in Aluminum-Exposed Workers: A Clinical and Animal Study.
PMID: 38407795
Biol Trace Elem Res · 2024
0.50
5
The prognostic role of intragenic copy number breakpoints and identification of novel fusion genes in paediatric high grade glioma.
PMID: 24548782
Acta Neuropathol Commun · 2014
0.33