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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
DHX38
DEAH-box helicase 38
Chromosome 16 Β· 16q22.2
NCBI Gene: 9785Ensembl: ENSG00000140829.13HGNC: HGNC:17211UniProt: Q92620
118PubMed Papers
21Diseases
0Drugs
4Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
mRNA splicing, via spliceosomenucleoplasmmembraneprotein bindingretinitis pigmentosaneurodegenerative diseaseRetinal dystrophyretinitis pigmentosa 84
✦AI Summary

DHX38 (DEAH-box helicase 38) is an ATP-dependent RNA helicase that functions as a core spliceosomal component essential for pre-mRNA splicing 1. The protein promotes splicing of both canonical and cryptic 5' splice sites and regulates alternative splicing events 1. Beyond its canonical splicing role, DHX38 maintains genome integrity by preventing R-loop accumulation and DNA damage during DNA replication stress 2. Mechanistically, DHX38 associates with key splicing factors involved in splicing steps and directly interacts with target transcripts to modulate alternative pre-mRNA splicing patterns 3. In the retina specifically, DHX38 regulates splicing of genes including FSCN2 and RHO 1, and is required for proper inner ear development through ensuring correct splicing of DNA damage repair genes 4. Clinically, DHX38 mutations cause autosomal recessive retinitis pigmentosa (RP84), a hereditary blinding disease 5. The RP-linked mutation G332D modulates DHX38 splicing activity 1. Additionally, DHX38 expression is critical for ovarian clear cell carcinoma tumorigenesis, suggesting potential therapeutic targeting in cancer 6. DHX38 is regulated post-transcriptionally by the m6A reader YTHDF1, which enhances its translation in the retina 7.

Sources cited
1
DHX38 is a splicing factor promoting cryptic and canonical splice sites, regulating ~70 alternative splicing events; RP mutation G332D modulates its activity
PMID: 35385551
2
DHX38 prevents R-loop accumulation and DNA damage during replication stress; required for retinal progenitor cell differentiation
PMID: 37867960
3
DHX38 directly interacts with RELL2 mRNA to regulate intron retention and modulate splicing
PMID: 37506056
4
DHX38 promotes inner ear development by ensuring correct splicing of DNA damage repair genes
PMID: 39857604
5
DHX38 mutations in spliceosomal proteins cause retinitis pigmentosa with tissue-specific phenotype
PMID: 27302685
6
DHX38/PRP16 is critical for ovarian clear cell carcinoma tumorigenesis
PMID: 34965029
7
YTHDF1 recognizes m6A-modified DHX38 mRNA, enhancing its translation in the retina
PMID: 40116022
Disease Associationsβ“˜21
retinitis pigmentosaOpen Targets
0.61Moderate
neurodegenerative diseaseOpen Targets
0.50Moderate
Retinal dystrophyOpen Targets
0.39Weak
retinitis pigmentosa 84Open Targets
0.38Weak
dengue diseaseOpen Targets
0.37Weak
hyperlipidemiaOpen Targets
0.34Weak
coronary artery diseaseOpen Targets
0.33Weak
HypercholesterolemiaOpen Targets
0.31Weak
familial hyperlipidemiaOpen Targets
0.28Weak
ovarian neoplasmOpen Targets
0.26Weak
autosomal recessive retinitis pigmentosaOpen Targets
0.26Weak
response to statinOpen Targets
0.24Weak
metabolic diseaseOpen Targets
0.15Weak
angina pectorisOpen Targets
0.15Weak
intestinal perforationOpen Targets
0.10Suggestive
venous thromboembolismOpen Targets
0.08Suggestive
obesityOpen Targets
0.07Suggestive
percutaneous transluminal coronary angioplastyOpen Targets
0.05Suggestive
primary familial polycythemia due to EPO receptor mutationOpen Targets
0.05Suggestive
Griscelli diseaseOpen Targets
0.05Suggestive
Retinitis pigmentosa 84UniProt
Pathogenic Variants4
NM_014003.4(DHX38):c.601C>T (p.Arg201Ter)Likely pathogenic
Retinal dystrophy
β˜…β˜†β˜†β˜†2023β†’ Residue 201
NM_014003.4(DHX38):c.1879T>A (p.Tyr627Asn)Likely pathogenic
Retinal dystrophy
β˜…β˜†β˜†β˜†2023β†’ Residue 627
NM_014003.4(DHX38):c.971G>A (p.Arg324Gln)Likely pathogenic
Retinitis pigmentosa 84|Autosomal recessive retinitis pigmentosa
β˜…β˜†β˜†β˜†2019β†’ Residue 324
NM_014003.4(DHX38):c.2329C>T (p.Pro777Ser)Likely pathogenic
Retinitis pigmentosa
β˜†β˜†β˜†β˜†2019β†’ Residue 777
View on ClinVar β†—
Related Genes
HNRNPA1L3Shared pathway100%RBMXL1Shared pathway100%RBMY1EShared pathway100%RBMY1DShared pathway100%RBM44Shared pathway100%HNRNPA3Shared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
85%
Lung
76%
Heart
60%
Brain
54%
Liver
51%
Gene Interaction Network
Click a node to explore
DHX38HNRNPA1L3RBMXL1RBMY1ERBMY1DRBM44HNRNPA3
PROTEIN STRUCTURE
Preparing viewer…
PDB6ZYM Β· 3.40 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.75LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.64 [0.54–0.75]
RankingsWhere DHX38 stands among ~20K protein-coding genes
  • #3,990of 20,598
    Most Researched118 Β· top quartile
  • #3,730of 5,498
    Most Pathogenic Variants4
  • #5,962of 17,882
    Most Constrained (LOEUF)0.75
Genes detectedDHX38
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
PMID: 20301590
1.00
2
Nucleolar maturation of the human small subunit processome.
PMID: 34516797
Science Β· 2021
0.90
3
Knockout of
PMID: 39857604
Biomedicines Β· 2024
0.80
4
DHX38 restricts chemoresistance by regulating the alternative pre-mRNA splicing of RELL2 in pancreatic ductal adenocarcinoma.
PMID: 37506056
PLoS Genet Β· 2023
0.70
5
Single-cell sequencing analysis reveals the essential role of the m
PMID: 40116022
Zool Res Β· 2025
0.60