DDX39B
Summary: This gene encodes a member of the DEAD box family of RNA-dependent ATPases that mediate ATP hydrolysis during pre-mRNA splicing. The encoded protein is an essential splicing factor required for association of U2 small nuclear ribonucleoprotein with pre-mRNA, and it also plays an important role in mRNA export from the nucleus to the cytoplasm. This gene belongs to a cluster of genes localized in the vicinity of the genes encoding tumor necrosis factor alpha and tumor necrosis factor beta. These genes are all within the human major histocompatibility complex class III region. Mutations in this gene may be associated with rheumatoid arthritis. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on both chromosomes 6 and 11. Read-through transcription also occurs between this gene and the upstream ATP6V1G2 (ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2) gene. [provided by RefSeq, Feb 2011].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| DExD-box helicase 39B | MIM:142560 | Ensembl:ENSG00000198563 | HGNC:HGNC:13917 | PA25262 | 6p21.33 |
Gene Categories:
TUMOR SUPPRESSORGO terms in DDX39B
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | HDA | GO:0003723 | RNA binding |
| MF | IDA | GO:0004004 | ATP-dependent RNA helicase activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0005524 | ATP binding |
| MF | IDA | GO:0008186 | RNA-dependent ATPase activity |
| MF | EXP | GO:0016887 | ATPase activity |
| MF | IDA | GO:0017070 | U6 snRNA binding |
| MF | IDA | GO:0030621 | U4 snRNA binding |
| MF | IPI | GO:0042802 | identical protein binding |
| MF | IDA | GO:0043008 | ATP-dependent protein binding |
| MF | IEA | GO:0044877 | protein-containing complex binding |
| CC | IDA | GO:0000346 | transcription export complex |
| CC | IDA | GO:0005634 | nucleus |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IDA | GO:0005681 | spliceosomal complex |
| CC | IDA | GO:0005687 | U4 snRNP |
| CC | IDA | GO:0005688 | U6 snRNP |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | IEA | GO:0016363 | nuclear matrix |
| CC | IDA | GO:0016607 | nuclear speck |
| BP | IDA | GO:0000245 | spliceosomal complex assembly |
| BP | IGI | GO:0000398 | mRNA splicing, via spliceosome |
| BP | IEA | GO:0001889 | liver development |
| BP | TAS | GO:0006405 | RNA export from nucleus |
| BP | IDA | GO:0006406 | mRNA export from nucleus |
| BP | IGI | GO:0006406 | mRNA export from nucleus |
| BP | IDA | GO:0008380 | RNA splicing |
| BP | IDA | GO:0010501 | RNA secondary structure unwinding |
| BP | TAS | GO:0031124 | mRNA 3'-end processing |
| BP | IMP | GO:0032786 | positive regulation of DNA-templated transcription, elongation |
| BP | IEA | GO:0045727 | positive regulation of translation |
| BP | IDA | GO:0046784 | viral mRNA export from host cell nucleus |
| BP | IEA | GO:0061051 | positive regulation of cell growth involved in cardiac muscle cell development |
| BP | IEA | GO:1904707 | positive regulation of vascular smooth muscle cell proliferation |
| BP | IMP | GO:2000002 | negative regulation of DNA damage checkpoint |
| BP | IEA | GO:2000573 | positive regulation of DNA biosynthetic process |
Gene expression in normal tissue: DDX39B
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in DDX39B
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa03013 | RNA transport - Homo sapiens (human) |
| kegg | hsa03015 | mRNA surveillance pathway - Homo sapiens (human) |
| kegg | hsa03040 | Spliceosome - Homo sapiens (human) |
| kegg | hsa05164 | Influenza A - Homo sapiens (human) |
| reactome | R-HSA-109688 | Cleavage of Growing Transcript in the Termination Region |
| reactome | R-HSA-159236 | Transport of Mature mRNA derived from an Intron-Containing Transcript |
| reactome | R-HSA-72187 | mRNA 3'-end processing |
| reactome | R-HSA-72202 | Transport of Mature Transcript to Cytoplasm |
| reactome | R-HSA-72203 | Processing of Capped Intron-Containing Pre-mRNA |
| reactome | R-HSA-73856 | RNA Polymerase II Transcription Termination |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-8953854 | Metabolism of RNA |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in DDX39B
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