DHX36
DEAH-box helicase 36, a G-quadruplex resolving helicase involved in DNA repair and gene regulation
Gene Information Card
| Symbol | DHX36 |
|---|---|
| Full Name | DEAH-box helicase 36 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q25.2 |
| NCBI Gene ID | 170506 ncbi.nlm.nih.gov/gene/170506 |
| Ensembl ID | ENSG00000114416 |
| UniProt ID | Q9H2U1 |
| OMIM ID | 613279 |
| HGNC ID | 18019 |
| Aliases | RHAU, G4R1, DDX36 |
Description
DHX36 encodes a DEAH-box helicase that specifically binds and unwinds G-quadruplex (G4) structures in DNA and RNA. It plays critical roles in telomere maintenance, DNA replication, transcription regulation, and RNA metabolism. DHX36 is essential for embryonic development and is implicated in cancer and other diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | DHX36 mutations or dysregulation may alter G4 resolution, affecting genomic stability and gene expression. | COSMIC; ClinVar |
| Aicardi-Goutières syndrome | Loss-of-function mutations in DHX36 are associated with aberrant nucleic acid sensing and interferon activation. | ClinVar; OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Bone marrow | 8.2 | Medium |
| Brain | 6.1 | Medium |
| Liver | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | High expression |
| HeLa | 7.8 | Moderate expression |
| K562 | 6.5 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; truncation |
| c.567G>A (p.Gly189Arg) | Missense | 0.2% | Unknown effect; reported in cancer |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the helicase domain, impairing G4 unwinding.
Gain of Function (GOF)
Not well characterized; some missense variants may increase helicase activity.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • helicase activity |
| • G-quadruplex DNA binding | • RNA helicase activity |
| • nucleic acid binding | • DNA repair |
| • telomere maintenance |
Pathways
• Telomere maintenance
• DNA replication
• RNA processing
• Innate immune response
Protein Summary
DHX36 is a 1008-amino acid protein containing a DEAH-box helicase domain and a N-terminal G4-binding motif. It localizes to the nucleus and cytoplasm, unwinding G-quadruplex structures to facilitate transcription, replication, and telomere stability. Its activity is ATP-dependent.
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