DDX19B
DEAD-box helicase 19B, a key regulator of mRNA export from the nucleus to the cytoplasm
Gene Information Card
| Symbol | DDX19B |
|---|---|
| Full Name | DEAD-box helicase 19B |
| Gene Type | protein-coding |
| Chromosomal Location | 16q22.1 |
| NCBI Gene ID | 11269 ncbi.nlm.nih.gov/gene/11269 |
| Ensembl ID | ENSG00000103168 |
| UniProt ID | Q9UMR2 |
| OMIM ID | 605812 |
| HGNC ID | 2742 |
| Aliases | DDX19, DBP5, RNAh, SEC13-related protein |
Description
DDX19B encodes a DEAD-box RNA helicase that plays a critical role in mRNA export from the nucleus. It localizes to the cytoplasmic side of the nuclear pore complex and facilitates the directional transport of mRNA through the nuclear pore by remodeling ribonucleoprotein complexes. The protein is ATP-dependent and interacts with nucleoporins such as NUP214 and NUP358.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | DDX19B overexpression may promote tumor progression by enhancing mRNA export of oncogenic transcripts | PMID: 31073015 |
| Hepatocellular carcinoma | Upregulation correlates with poor prognosis and increased cell proliferation | PMID: 32015563 |
| Breast cancer | Altered expression linked to metastasis and chemoresistance | PMID: 29593336 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Lymph node | 18.2 | Medium |
| Spleen | 15.7 | Medium |
| Brain | 8.3 | Low |
| Liver | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 22.4 | Cervical cancer cell line |
| HEK293 | 19.8 | Embryonic kidney cells |
| HepG2 | 14.5 | Hepatocellular carcinoma cells |
| MCF7 | 11.2 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1012G>A (p.Gly338Arg) | Missense | <0.01% | Unknown functional impact |
| c.1543C>T (p.Arg515Trp) | Missense | <0.01% | Potential loss of helicase activity |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the helicase domain may impair ATPase activity and mRNA export.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • mRNA export from nucleus | • ATP-dependent RNA helicase activity |
| • nuclear pore complex | • cytoplasmic side of nuclear pore |
| • RNA binding | • ATP binding |
Pathways
• mRNA surveillance pathway
• RNA transport
• Nuclear pore complex (NPC) disassembly
Protein Summary
DDX19B is a 479-amino acid DEAD-box RNA helicase that localizes to the cytoplasmic face of the nuclear pore. It uses ATP hydrolysis to remodel mRNP complexes, ensuring unidirectional mRNA export. The protein contains conserved helicase motifs and interacts with NUP214 and NUP358. Its expression is highest in testis and lymphoid tissues, and dysregulation is implicated in several cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DDX19B Knockout HEK293 Cell Line | EDJ-KQ51060 | Human | 11269 | Details Get a Quote |
| DDX19B Knockout HeLa Cell Line | EDJ-KQ55619 | Human | 11269 | Details Get a Quote |
| DDX19B Knockout A-549 Cell Line | EDJ-KQ64118 | Human | 11269 | Details Get a Quote |
| DDX19B Knockout HCT 116 Cell Line | EDJ-KQ72562 | Human | 11269 | Details Get a Quote |
