DDX43: DEAD-Box Helicase 43
A cancer/testis antigen with RNA helicase activity implicated in tumorigenesis and immune evasion
Gene Information Card
| Symbol | DDX43 |
|---|---|
| Full Name | DEAD-box helicase 43 |
| Gene Type | protein-coding |
| Chromosomal Location | 6q25.3 |
| NCBI Gene ID | 55510 ncbi.nlm.nih.gov/gene/55510 |
| Ensembl ID | ENSG00000112335 |
| UniProt ID | Q9NXZ2 |
| OMIM ID | 606286 |
| HGNC ID | 17368 |
| Aliases | HAGE, CT13 |
Description
DDX43 (DEAD-box helicase 43), also known as HAGE (helicase antigen), is a member of the DEAD-box family of RNA helicases. It functions as an ATP-dependent RNA helicase involved in RNA unwinding and remodeling. DDX43 is a cancer/testis antigen (CTA) with restricted expression in normal testis and aberrant expression in various cancers, where it promotes cell proliferation, migration, and immune evasion. Its helicase activity is essential for unwinding structured RNA, facilitating translation and RNA metabolism in tumor cells.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Melanoma | Overexpression of DDX43 promotes tumor cell proliferation and migration via RNA helicase activity; acts as an immunogenic cancer/testis antigen | PMID: 15601849; COSMIC |
| Lung cancer | DDX43 overexpression correlates with poor prognosis; enhances cell cycle progression and invasion | PMID: 22426471; COSMIC |
| Breast cancer | Upregulation of DDX43 associated with aggressive subtypes; contributes to proliferation and metastasis | PMID: 25695636; COSMIC |
| Hepatocellular carcinoma | DDX43 overexpression linked to tumor growth and recurrence; potential target for immunotherapy | PMID: 29593339; COSMIC |
| Leukemia | DDX43 expression in acute myeloid leukemia (AML) associated with poor outcome; promotes leukemic cell survival | PMID: 21719599; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 1.2 | Low |
| Lymph node | 0.8 | Low |
| Lung | 0.5 | Low |
| Breast | 0.3 | Low |
| Skin | 0.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A375 (melanoma) | 15.3 | High expression; cancer/testis antigen |
| H1299 (lung cancer) | 12.1 | High expression; associated with proliferation |
| MCF7 (breast cancer) | 8.7 | Moderate expression; linked to aggressive phenotype |
| HepG2 (hepatocellular carcinoma) | 10.4 | High expression; tumor growth |
| K562 (leukemia) | 9.8 | High expression; poor prognosis |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1012C>T (p.Arg338Trp) | Missense | <0.1% | Unknown functional effect; rare variant |
| c.1456G>A (p.Glu486Lys) | Missense | <0.1% | Unknown functional effect; rare variant |
| c.1789_1791del (p.Lys597del) | In-frame deletion | <0.1% | Unknown functional effect; rare variant |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in DDX43.
Gain of Function (GOF)
Overexpression of wild-type DDX43 is associated with oncogenic gain-of-function in multiple cancers.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding (GO:0005524) | • RNA helicase activity (GO:0003724) |
| • ATP-dependent RNA helicase activity (GO:0004004) | • RNA binding (GO:0003723) |
| • nucleic acid binding (GO:0003676) | • cytoplasm (GO:0005737) |
| • nucleus (GO:0005634) | • RNA secondary structure unwinding (GO:0010501) |
| • regulation of translation (GO:0006417) | • cell proliferation (GO:0008283) |
Pathways
• RNA helicase activity in mRNA translation (Reactome: R-HSA-72649)
• Unwinding of RNA secondary structure (Reactome: R-HSA-72086)
• Cancer/testis antigen signaling in immune evasion (KEGG: hsa05200)
Protein Summary
DDX43 encodes a 648-amino acid protein (UniProt Q9NXZ2) belonging to the DEAD-box helicase family. It contains conserved helicase domains (DEADc and HELICc) and an N-terminal domain unique to HAGE. The protein localizes to the cytoplasm and nucleus, where it unwinds RNA duplexes in an ATP-dependent manner. DDX43 is a cancer/testis antigen with highly restricted expression in normal testis but aberrantly expressed in multiple cancers, where it promotes tumor cell proliferation, migration, and immune evasion. Its immunogenicity makes it a potential target for cancer immunotherapy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DDX43 Knockout HEK293 Cell Line | EDJ-KQ13116 | Human | 55510 | Details Get a Quote |
| DDX43 Knockout HeLa Cell Line | EDJ-KQ56591 | Human | 55510 | Details Get a Quote |
| DDX43 Knockout A-549 Cell Line | EDJ-KQ65090 | Human | 55510 | Details Get a Quote |
| DDX43 Knockout HCT 116 Cell Line | EDJ-KQ73537 | Human | 55510 | Details Get a Quote |
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