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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DHX8
DEAH-box helicase 8
Chromosome 17 · 17q21.31
NCBI Gene: 1659Ensembl: ENSG00000067596.12HGNC: HGNC:2749UniProt: B7Z8F4
99PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mRNA splicing, via spliceosomeU2-type catalytic step 2 spliceosomecatalytic step 2 spliceosomeprotein bindingcongenital hydronephrosiscongenital anomaly of kidney and urinary tractneurodegenerative diseaseupper extremity fracture
✦AI Summary

DHX8 (DEAH-box helicase 8) is a crucial RNA helicase that plays essential roles in pre-mRNA splicing and cellular stress responses. As a core component of the spliceosome, DHX8 facilitates the second catalytic step of splicing and promotes the release of mature mRNA from the spliceosome complex 12. The protein exhibits adenine-rich RNA binding preference and undergoes conformational changes upon RNA binding that trigger ADP release, with the hook-turn motif acting as a regulatory gatekeeper for directional RNA movement 1. DHX8 interacts functionally with spliceosome-associated factors including cactin and SRRM2 to ensure efficient splicing of thousands of pre-mRNAs, which is critical for maintaining chromosome 17 and genome stability 3. Beyond splicing, DHX8 regulates heat shock factor 1 (HSF1)-mediated stress responses by controlling intron retention in HSF1 transcripts, thereby modulating cancer-associated gene expression programs 4. Loss of DHX8 function leads to widespread intron retention, particularly affecting stress-response and oncogenic pathways, and preferentially induces apoptosis in cancer cells compared to normal cells 4. Genetic variants in DHX8 have been associated with various diseases including childhood-onset lupus and antidepressant response, highlighting its clinical relevance 56.

Sources cited
1
DHX8 has adenine-rich RNA binding preference and undergoes conformational changes upon RNA binding that trigger ADP release
PMID: 31409651
2
DHX8 is a component of the spliceosome involved in the second catalytic step of splicing
PMID: 28502770
3
DHX8 interacts with cactin and SRRM2 for efficient splicing of thousands of pre-mRNAs and maintaining genome stability
PMID: 28062851
4
DHX8 regulates HSF1-mediated stress responses and controls intron retention in cancer-associated transcripts
PMID: 41837178
5
DHX8 variants are associated with childhood-onset lupus
PMID: 40386946
6
DHX8 is associated with antidepressant response in genetic studies
PMID: 35712048
Disease Associationsⓘ20
congenital anomaly of kidney and urinary tractOpen Targets
0.26Weak
congenital hydronephrosisOpen Targets
0.26Weak
neurodegenerative diseaseOpen Targets
0.19Weak
upper extremity fractureOpen Targets
0.12Weak
lens diseaseOpen Targets
0.10Weak
duodenitisOpen Targets
0.10Suggestive
high grade ovarian serous adenocarcinomaOpen Targets
0.06Suggestive
Age-related cataractOpen Targets
0.04Suggestive
cataractOpen Targets
0.03Suggestive
cancerOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
systemic lupus erythematosusOpen Targets
0.01Suggestive
SepsisOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.00Suggestive
aneurysmal bone cystOpen Targets
0.00Suggestive
hepatitis B virus infectionOpen Targets
0.00Suggestive
melanomaOpen Targets
0.00Suggestive
psoriasisOpen Targets
0.00Suggestive
Spinocerebellar ataxia type 3Open Targets
0.00Suggestive
diabetes mellitusOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PPIEProtein interaction100%RBM22Protein interaction100%BCAS2Protein interaction100%PRPF19Protein interaction100%CDC40Protein interaction100%EFTUD2Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
48%
Lung
48%
Ovary
35%
Heart
35%
Liver
30%
Gene Interaction Network
Click a node to explore
DHX8PPIERBM22BCAS2PRPF19CDC40EFTUD2
PROTEIN STRUCTURE
Preparing viewer…
PDB3I4U · 2.10 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.55Moderately Constrained
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.45 [0.36–0.55]
RankingsWhere DHX8 stands among ~20K protein-coding genes
  • #4,831of 20,598
    Most Researched99 · top quartile
  • #3,564of 17,882
    Most Constrained (LOEUF)0.55 · top quartile
Genes detectedDHX8
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Structural and functional characterisation of human RNA helicase DHX8 provides insights into the mechanism of RNA-stimulated ADP release.
PMID: 31409651
Biochem J · 2019
1.00
2
Human cactin interacts with DHX8 and SRRM2 to assure efficient pre-mRNA splicing and sister chromatid cohesion.
PMID: 28062851
J Cell Sci · 2017
0.90
3
An Atomic Structure of the Human Spliceosome.
PMID: 28502770
Cell · 2017
0.80
4
Trio Whole Exome Sequencing in Chinese Childhood-Onset Lupus Reveals Novel Candidate Genes.
PMID: 40386946
Arthritis Rheumatol · 2025
0.70
5
Identifying the Common Genetic Basis of Antidepressant Response.
PMID: 35712048
Biol Psychiatry Glob Open Sci · 2022
0.60