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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INSOMNIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MYOSITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 18715507 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 15022317 Associate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma GWASDB_DG 21790008
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 1352699
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 33020551 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 30176153 Associate
★☆☆☆☆
Found in Text Mining only
Chagas Cardiomyopathy Chagas Cardiomyopathy BEFREE 16619187
★☆☆☆☆
Found in Text Mining only
Chronic Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 31292126
★☆☆☆☆
Found in Text Mining only
Cystinuria Cystinuria BEFREE 11318953
★☆☆☆☆
Found in Text Mining only
Dermatitis, Atopic Dermatitis GWASDB_DG 23886662
★☆☆☆☆
Found in Text Mining only