Gene Gene information from NCBI Gene database.
Entrez ID 7919
Gene name DExD-box helicase 39B
Gene symbol DDX39B
Synonyms (NCBI Gene)
BAT1D6S81EUAP56
Chromosome 6
Chromosome location 6p21.33
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-mR
miRNA miRNA information provided by mirtarbase database.
826
miRTarBase ID miRNA Experiments Reference
MIRT028060 hsa-miR-93-5p Sequencing 20371350
MIRT455280 hsa-miR-4426 PAR-CLIP 20371350
MIRT455279 hsa-miR-4647 PAR-CLIP 20371350
MIRT455278 hsa-miR-4662b PAR-CLIP 20371350
MIRT455274 hsa-miR-6890-5p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
46
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000245 Process Spliceosomal complex assembly IDA 18593880
GO:0000346 Component Transcription export complex IDA 15833825, 15998806
GO:0000398 Process MRNA splicing, via spliceosome IBA
GO:0000398 Process MRNA splicing, via spliceosome IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
142560 13917 ENSG00000198563
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13838
Protein name Spliceosome RNA helicase DDX39B (EC 3.6.4.13) (56 kDa U2AF65-associated protein) (ATP-dependent RNA helicase p47) (DEAD box protein UAP56) (HLA-B-associated transcript 1 protein)
Protein function Involved in nuclear export of spliced and unspliced mRNA (PubMed:15833825, PubMed:15998806, PubMed:17190602). Component of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and specifically associates
PDB 1T5I , 1T6N , 1XTI , 1XTJ , 1XTK , 7APK , 7ZNK , 7ZNL , 8ENK
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00270 DEAD 69 238 DEAD/DEAH box helicase Domain
PF00271 Helicase_C 273 382 Helicase conserved C-terminal domain Family
Sequence
Sequence length 428
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Nucleocytoplasmic transport
mRNA surveillance pathway
Spliceosome
  Transport of Mature mRNA derived from an Intron-Containing Transcript
mRNA 3'-end processing
RNA Polymerase II Transcription Termination
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
5
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Neurodevelopmental disorder Uncertain significance rs2481452992, rs2481439394, rs2481434228, rs763394152, rs2481412217 RCV003154863
RCV003154864
RCV003154865
RCV003154866
RCV003154867
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
AIDS Associated Nephropathy Associate 31936167
Alzheimer Disease Associate 18715507
Arthritis Rheumatoid Associate 15022317
Breast Neoplasms Associate 33020551
Carcinogenesis Associate 30176153
Cardiotoxicity Associate 28256194
Dermatomyositis Associate 39447013
Inflammation Associate 24578538
Leprosy Associate 24578538
Malaria Associate 25038626