Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7919
Gene name Gene Name - the full gene name approved by the HGNC.
DExD-box helicase 39B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DDX39B
Synonyms (NCBI Gene) Gene synonyms aliases
BAT1, D6S81E, UAP56
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p21.33
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
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 21873635
GO:0000398 Process MRNA splicing, via spliceosome IGI 15047853
GO:0001889 Process Liver development IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
142560 13917 ENSG00000198563
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Dermatitis Dermatitis, Atopic rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174 23886662
Diabetes mellitus Diabetes Mellitus, Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
17632545
Rheumatoid arthritis Rheumatoid Arthritis rs587776843 17804836, 21156761, 19503088
Unknown
Disease term Disease name Evidence References Source
Asthma Asthma 21790008 ClinVar
Neurodevelopmental Disorders neurodevelopmental disorder GenCC
Myositis Myositis GWAS
Insomnia Insomnia GWAS
Associations from Text Mining
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