DDX39B
DExD-box helicase 39B
Gene Information Card
| Symbol | DDX39B |
|---|---|
| Full Name | DExD-box helicase 39B |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.33 |
| NCBI Gene ID | 7919 ncbi.nlm.nih.gov/gene/7919 |
| Ensembl ID | ENSG00000198563 |
| UniProt ID | Q13838 |
| OMIM ID | 142560 |
| HGNC ID | 2740 |
| Aliases | UAP56, BAT1, D6S81E |
Description
DDX39B encodes a member of the DEAD-box family of RNA helicases. The protein is a component of the spliceosome and is involved in pre-mRNA splicing, mRNA export, and regulation of gene expression. It plays a role in immune response and cellular stress pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Rheumatoid arthritis | Altered splicing of immune-related genes due to DDX39B dysregulation | OMIM 142560 |
| Systemic lupus erythematosus | Association with autoantibody production and RNA processing defects | ClinVar |
| Colorectal cancer | Overexpression linked to increased cell proliferation and metastasis | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 48.2 | High |
| Lymph node | 35.1 | High |
| Bone marrow | 30.8 | High |
| Brain | 12.4 | Medium |
| Liver | 8.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 42.5 | High expression |
| HeLa | 38.7 | High expression |
| K562 | 29.3 | Moderate expression |
| HepG2 | 15.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.107G>A (p.Arg36His) | Missense | 0.02% (gnomAD) | Unknown functional impact |
| c.523C>T (p.Arg175Trp) | Missense | 0.01% (gnomAD) | Potential loss of helicase activity |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the helicase domain may impair ATPase or RNA unwinding activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • RNA helicase activity |
| • mRNA splicing | • via spliceosome |
| • mRNA export from nucleus | • nucleic acid binding |
Pathways
• Spliceosome (Reactome R-HSA-72163)
• mRNA Splicing - Major Pathway (Reactome R-HSA-72163)
• Processing of Capped Intron-Containing Pre-mRNA (Reactome R-HSA-72203)
Protein Summary
DDX39B is a 428-amino acid RNA helicase that localizes to the nucleus and is part of the U2 snRNP complex. It facilitates ATP-dependent unwinding of RNA duplexes and is essential for spliceosome assembly and mRNA export. The protein interacts with UAP56 and other splicing factors.
Related Services
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|---|---|---|---|---|
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