DHX40 Gene: DEAH-Box Helicase 40 – Function, Expression, and Clinical Significance
A comprehensive biomedical overview of DHX40, including genomic context, protein function, expression profiles, and disease associations.
Gene Information Card
| Symbol | DHX40 |
|---|---|
| Full Name | DEAH-box helicase 40 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q23.1 |
| NCBI Gene ID | 79665 ncbi.nlm.nih.gov/gene/79665 |
| Ensembl ID | ENSG00000108771 |
| UniProt ID | Q5T1M5 |
| OMIM ID | 617057 |
| HGNC ID | 20619 |
| Aliases | FLJ13910, MGC126851 |
Description
DHX40 encodes a member of the DEAH-box family of RNA helicases. These proteins are involved in ATP-dependent RNA unwinding, which is critical for RNA splicing, ribosome biogenesis, and gene expression regulation. DHX40 is localized to the nucleus and is ubiquitously expressed, with higher levels in tissues with active RNA metabolism. Its precise cellular functions are still under investigation, but it is implicated in pre-mRNA processing and may play a role in cancer and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered expression and potential dysregulation of RNA helicase activity may affect RNA processing and cell proliferation. | COSMIC lists somatic mutations in DHX40 across multiple cancer types, but functional validation is limited. |
| Neurodevelopmental disorders | Rare variants in DHX40 have been reported in patients with intellectual disability, but the mechanism is not fully established. | ClinVar has a few entries with uncertain significance; no definitive OMIM disease association. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 25.1 | High |
| Thyroid | 18.3 | Medium |
| Adrenal gland | 15.7 | Medium |
| Brain (cerebellum) | 12.4 | Medium |
| Liver | 8.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 20.5 | High expression; consistent with active RNA metabolism |
| HeLa (cervical cancer) | 15.2 | Moderate expression |
| A549 (lung carcinoma) | 12.8 | Moderate expression |
| HepG2 (hepatocellular carcinoma) | 9.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Lys412Glu) | Missense | 0.01% (gnomAD) | Unknown; predicted benign by in silico tools |
| c.567_568del (p.Glu190fs) | Frameshift | Rare | Likely loss of function; may affect helicase activity |
| c.890C>T (p.Thr297Met) | Missense | 0.02% (gnomAD) | Uncertain significance; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations likely lead to truncated protein and loss of helicase activity, potentially impairing RNA processing.
Gain of Function (GOF)
No evidence for gain-of-function mutations; most variants are loss-of-function or neutral.
Dominant Negative (DN)
No known dominant-negative effects; DHX40 is not a well-characterized tumor suppressor or oncogene.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • RNA helicase activity |
| • nucleic acid binding | • nucleus |
| • mRNA processing | • RNA secondary structure unwinding |
Pathways
• mRNA Splicing - Major Pathway
• Processing of Capped Intron-Containing Pre-mRNA
Protein Summary
DHX40 is a 120 kDa protein consisting of 1088 amino acids. It contains a conserved DEAH-box helicase domain that binds ATP and unwinds RNA duplexes. The protein is predominantly nuclear and is thought to participate in spliceosome assembly and pre-mRNA splicing. Its expression is ubiquitous, with enrichment in tissues with high transcriptional activity. Structural studies suggest a typical helicase fold with two RecA-like domains. Post-translational modifications include phosphorylation, but their functional impact is not fully characterized.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DHX40 Knockout HEK293 Cell Line | EDJ-KQ13151 | Human | 79665 | Details Get a Quote |
| DHX40 Knockout A-549 Cell Line | EDJ-KQ42486 | Human | 79665 | Details Get a Quote |
| DHX40 Knockout HCT 116 Cell Line | EDJ-KQ42487 | Human | 79665 | Details Get a Quote |
| DHX40 Knockout HeLa Cell Line | EDJ-KQ42488 | Human | 79665 | Details Get a Quote |
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