DHX34: A DEAH-Box RNA Helicase in RNA Metabolism and Disease
Comprehensive gene card for DHX34, including genomic context, expression, mutations, and clinical relevance.
Gene Information Card
| Symbol | DHX34 |
|---|---|
| Full Name | DEAH-box helicase 34 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.32 |
| NCBI Gene ID | 9704 ncbi.nlm.nih.gov/gene/9704 |
| Ensembl ID | ENSG00000104884 |
| UniProt ID | Q9H6R0 |
| OMIM ID | 616852 |
| HGNC ID | 16718 |
| Aliases | DDX34, FLJ11273 |
Description
DHX34 encodes a DEAH-box RNA helicase involved in pre-mRNA splicing, ribosome biogenesis, and RNA metabolism. It is ubiquitously expressed and has been implicated in cellular stress responses and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered RNA helicase activity may affect splicing and gene expression | COSMIC mutation data |
| Developmental disorders | Potential role in RNA processing; limited evidence | ClinVar variants of uncertain significance |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 8.5 | Low |
| Liver | 6.1 | Low |
| Kidney | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.4 | Embryonic kidney cells |
| HeLa | 9.8 | Cervical cancer cells |
| K562 | 7.2 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | 0.01% | Unknown functional impact |
| c.567_568del (p.Glu190fs) | Frameshift | 0.002% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants predicted to truncate the protein, likely impairing helicase activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • RNA helicase activity (GO:0003724) | • ATP binding (GO:0005524) |
| • via spliceosome (GO:0000398) | • ribosome biogenesis (GO:0042254) |
| • nucleus (GO:0005634) |
Pathways
• Spliceosome (KEGG: hsa03040)
• RNA degradation (KEGG: hsa03018)
Protein Summary
DHX34 is a 1,228-amino-acid DEAH-box RNA helicase that localizes to the nucleus. It contains conserved helicase domains (DEXDc, HELICc) and is involved in ATP-dependent RNA unwinding during splicing and ribosome assembly. Its expression is highest in testis and moderate in other tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DHX34 Knockout HEK293 Cell Line | EDJ-KQ6707 | Human | 9704 | Details Get a Quote |
| DHX34 Knockout A-549 Cell Line | EDJ-KQ31068 | Human | 9704 | Details Get a Quote |
| DHX34 Knockout HCT 116 Cell Line | EDJ-KQ31069 | Human | 9704 | Details Get a Quote |
| DHX34 Knockout HeLa Cell Line | EDJ-KQ31070 | Human | 9704 | Details Get a Quote |
