DHX30: A Key RNA Helicase in Neurodevelopment and Disease
Comprehensive genomic and functional analysis of DHX30, an ATP-dependent RNA helicase linked to neurodevelopmental disorders and cancer.
Gene Information Card
| Symbol | DHX30 |
|---|---|
| Full Name | DEAH-box helicase 30 |
| Gene Type | Protein-coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 22907 ncbi.nlm.nih.gov/gene/22907 |
| Ensembl ID | ENSG00000132153 |
| UniProt ID | Q7L2E3 |
| OMIM ID | 616192 |
| HGNC ID | 16716 |
| Aliases | DDX30, FLJ11273, KIAA0890 |
Description
DHX30 encodes an ATP-dependent DEAH-box RNA helicase involved in RNA splicing, ribosome biogenesis, and mitochondrial RNA processing. Mutations in DHX30 cause a neurodevelopmental disorder characterized by intellectual disability, motor delay, and seizures. The gene is widely expressed, with highest levels in the brain and testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| DHX30-related neurodevelopmental disorder | Missense mutations in the helicase domain impair RNA unwinding activity, leading to defective RNA metabolism and neuronal dysfunction. | ClinVar, OMIM #616192 |
| Intellectual disability, autosomal dominant 67 | De novo heterozygous mutations in DHX30 cause global developmental delay, intellectual disability, and seizures. | OMIM #618504 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 32.5 | High |
| Testis | 28.1 | High |
| Heart | 18.3 | Medium |
| Liver | 12.4 | Medium |
| Lung | 9.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 45.2 | High expression; relevant for neuronal studies |
| HEK293 (embryonic kidney) | 22.7 | Moderate expression |
| HeLa (cervical carcinoma) | 15.3 | Moderate expression |
| K562 (leukemia) | 8.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Arg524His | Missense | Rare (de novo) | Reduces ATPase and helicase activity; associated with neurodevelopmental disorder |
| p.Arg524Cys | Missense | Rare (de novo) | Similar functional impairment; reported in ClinVar |
| p.Arg524Leu | Missense | Rare (de novo) | Loss of helicase function; linked to intellectual disability |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the helicase domain (e.g., p.Arg524His) reduce ATPase and RNA unwinding activity, leading to loss of function.
Gain of Function (GOF)
No evidence for gain-of-function mutations in DHX30.
Dominant Negative (DN)
Some mutations may exert dominant-negative effects by interfering with wild-type helicase activity in RNA processing complexes.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • RNA helicase activity |
| • RNA binding | • nucleic acid binding |
| • mitochondrial RNA processing | • ribosome biogenesis |
| • spliceosomal complex assembly | • nucleus |
| • mitochondrion |
Pathways
• RNA splicing (spliceosome)
• Ribosome biogenesis in eukaryotes
• Mitochondrial RNA metabolism
Protein Summary
DHX30 is a 1194-amino acid ATP-dependent RNA helicase belonging to the DEAH-box family. It localizes to the nucleus and mitochondria, where it participates in pre-mRNA splicing, ribosome assembly, and mitochondrial RNA processing. The protein contains a conserved helicase domain with ATP-binding and RNA-unwinding motifs. Mutations in this domain disrupt its enzymatic activity and are causative for neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DHX30 Knockout HEK293 Cell Line | EDC09694 | Human | 22907 | Details Get a Quote |
| DHX30 Knockout A-549 Cell Line | EDJ-KQ33156 | Human | 22907 | Details Get a Quote |
| DHX30 Knockout HCT 116 Cell Line | EDJ-KQ33157 | Human | 22907 | Details Get a Quote |
| DHX30 Knockout HeLa Cell Line | EDJ-KQ33158 | Human | 22907 | Details Get a Quote |
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