DHX32: DEAH-Box Helicase 32
A Putative RNA Helicase Implicated in Immune Function and Cancer
Gene Information Card
| Symbol | DHX32 |
|---|---|
| Full Name | DEAH-Box Helicase 32 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q26.2 |
| NCBI Gene ID | 55760 ncbi.nlm.nih.gov/gene/55760 |
| Ensembl ID | ENSG00000138160 |
| UniProt ID | Q7L7V1 |
| OMIM ID | 616594 |
| HGNC ID | 16718 |
| Aliases | DDX32, DEAH-box protein 32, DHX32 helicase |
Description
DHX32 (DEAH-Box Helicase 32) encodes a putative RNA helicase belonging to the DEAH-box family. The protein is involved in RNA metabolism, including splicing and ribosome biogenesis. It is expressed in multiple tissues and has been implicated in immune regulation and cancer progression. Mutations and altered expression of DHX32 are associated with various malignancies and immune disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute Lymphoblastic Leukemia (ALL) | DHX32 mutations may disrupt RNA helicase activity, affecting RNA processing and leading to leukemogenesis. | COSMIC; PMID: 23594911 |
| Colorectal Cancer | Overexpression of DHX32 promotes cell proliferation and invasion via modulation of Wnt/β-catenin signaling. | PMID: 29367642 |
| Breast Cancer | DHX32 upregulation correlates with poor prognosis; may enhance tumor growth through RNA helicase activity. | PMID: 31065109 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Lymph node | 8.7 | Medium |
| Bone marrow | 6.5 | Low |
| Brain | 2.1 | Low |
| Liver | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 15.2 | High expression |
| HeLa (cervical) | 9.8 | Medium expression |
| MCF7 (breast) | 7.4 | Medium expression |
| HepG2 (liver) | 3.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Arg376Trp | Missense | <0.1% | Unknown; reported in COSMIC |
| p.Glu487Lys | Missense | <0.1% | Unknown; reported in COSMIC |
| c.1234_1235insA | Frameshift insertion | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations likely lead to loss of helicase activity.
Gain of Function (GOF)
Not clearly established; some missense variants may alter substrate specificity.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • RNA helicase activity (GO:0003724) | • ATP binding (GO:0005524) |
| • Nucleic acid binding (GO:0003676) | • RNA processing (GO:0006396) |
| • Ribosome biogenesis (GO:0042254) |
Pathways
• RNA splicing (Reactome: R-HSA-72163)
• Metabolism of RNA (Reactome: R-HSA-8953854)
Protein Summary
DHX32 is a 743-amino acid protein containing a conserved DEAH-box helicase domain. It localizes to the nucleus and nucleolus, where it participates in RNA unwinding and remodeling. The protein is involved in pre-mRNA splicing and ribosome assembly. Its expression is highest in testis and lymphoid tissues, suggesting a role in germ cell and immune function. Dysregulation of DHX32 is linked to cancer and immune disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DHX32 Knockout HEK293 Cell Line | EDJ-KQ13150 | Human | 55760 | Details Get a Quote |
| DHX32 Knockout A-549 Cell Line | EDJ-KQ42483 | Human | 55760 | Details Get a Quote |
| DHX32 Knockout HCT 116 Cell Line | EDJ-KQ42484 | Human | 55760 | Details Get a Quote |
| DHX32 Knockout HeLa Cell Line | EDJ-KQ42485 | Human | 55760 | Details Get a Quote |
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