DDX39B
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Also known as D6S81EUap56
Summary
DDX39B (DExD-box helicase 39B, HGNC:13917) is a protein-coding gene on chromosome 6p21.33, encoding Spliceosome RNA helicase DDX39B (Q13838). Involved in nuclear export of spliced and unspliced mRNA. It is a selective cancer dependency (DepMap: 63.2% of cell lines).
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.
Source: NCBI Gene 7919 — RefSeq curated summary.
At a glance
- Gene–disease (curated): neurodevelopmental disorder (Limited, GenCC)
- GWAS associations: 32
- Clinical variants (ClinVar): 3 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 63.2% of screened cell lines
- MANE Select transcript:
NM_004640
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13917 |
| Approved symbol | DDX39B |
| Name | DExD-box helicase 39B |
| Location | 6p21.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | D6S81E, Uap56 |
| Ensembl gene | ENSG00000198563 |
| Ensembl biotype | protein_coding |
| OMIM | 142560 |
| Entrez | 7919 |
Gene structure
Transcript identifiers
Ensembl transcripts: 68 — 61 protein_coding, 5 retained_intron, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000376177, ENST00000396172, ENST00000417023, ENST00000418897, ENST00000419020, ENST00000419338, ENST00000427214, ENST00000428098, ENST00000428450, ENST00000431908, ENST00000449757, ENST00000456662, ENST00000456976, ENST00000458640, ENST00000462256, ENST00000462421, ENST00000474961, ENST00000478365, ENST00000481456, ENST00000482195, ENST00000484566, ENST00000866323, ENST00000866324, ENST00000866325, ENST00000866326, ENST00000866327, ENST00000866328, ENST00000866329, ENST00000866330, ENST00000866331, ENST00000866332, ENST00000866333, ENST00000866334, ENST00000866335, ENST00000866336, ENST00000866337, ENST00000866338, ENST00000866339, ENST00000923348, ENST00000923349, ENST00000923350, ENST00000923351, ENST00000923352, ENST00000923353, ENST00000923354, ENST00000923355, ENST00000923356, ENST00000923357, ENST00000923358, ENST00000923359, ENST00000923360, ENST00000923361, ENST00000923362, ENST00000923363, ENST00000923364, ENST00000923365, ENST00000963245, ENST00000963246, ENST00000963247, ENST00000963248, ENST00000963249, ENST00000963250, ENST00000963251, ENST00000963252, ENST00000963253, ENST00000963254, ENST00000963255, ENST00000963256
RefSeq mRNA: 2 — MANE Select: NM_004640
NM_004640, NM_080598
CCDS: CCDS4697
Canonical transcript exons
ENST00000396172 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001763907 | 31541950 | 31542003 |
| ENSE00003467329 | 31539147 | 31539274 |
| ENSE00003520497 | 31538763 | 31538855 |
| ENSE00003532613 | 31540322 | 31540664 |
| ENSE00003625497 | 31531053 | 31531197 |
| ENSE00003637164 | 31535367 | 31535485 |
| ENSE00003638363 | 31536500 | 31536683 |
| ENSE00003664572 | 31531296 | 31531405 |
| ENSE00003785849 | 31530779 | 31530926 |
| ENSE00003791442 | 31532780 | 31532911 |
| ENSE00003850394 | 31530226 | 31530450 |
Expression profiles
Bgee: expression breadth ubiquitous, 263 present calls, max score 99.55.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 248.3796 / max 2478.9709, expressed in 1827 samples.
FANTOM5 promoters (9 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 72690 | 244.1381 | 1827 |
| 72689 | 1.5638 | 1063 |
| 72687 | 0.7386 | 289 |
| 72691 | 0.4571 | 174 |
| 203943 | 0.4458 | 200 |
| 72686 | 0.4131 | 192 |
| 72684 | 0.2876 | 125 |
| 72692 | 0.1814 | 71 |
| 72683 | 0.1542 | 63 |
Top tissues by expression
282 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| granulocyte | CL:0000094 | 99.55 | gold quality |
| adenohypophysis | UBERON:0002196 | 99.48 | gold quality |
| ventricular zone | UBERON:0003053 | 99.48 | gold quality |
| ganglionic eminence | UBERON:0004023 | 99.48 | gold quality |
| right uterine tube | UBERON:0001302 | 99.47 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 99.42 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 99.41 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 99.41 | gold quality |
| left ovary | UBERON:0002119 | 99.38 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 99.38 | gold quality |
| body of uterus | UBERON:0009853 | 99.38 | gold quality |
| right ovary | UBERON:0002118 | 99.37 | gold quality |
| endocervix | UBERON:0000458 | 99.36 | gold quality |
| mucosa of stomach | UBERON:0001199 | 99.35 | gold quality |
| cortical plate | UBERON:0005343 | 99.34 | gold quality |
| cerebellar cortex | UBERON:0002129 | 99.32 | gold quality |
| left uterine tube | UBERON:0001303 | 99.31 | gold quality |
| metanephros cortex | UBERON:0010533 | 99.31 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 99.28 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 99.27 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 99.26 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 99.26 | gold quality |
| tibial nerve | UBERON:0001323 | 99.25 | gold quality |
| skin of abdomen | UBERON:0001416 | 99.25 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 99.24 | gold quality |
| lower esophagus | UBERON:0013473 | 99.24 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 99.24 | gold quality |
| ectocervix | UBERON:0012249 | 99.23 | gold quality |
| skin of leg | UBERON:0001511 | 99.20 | gold quality |
| body of pancreas | UBERON:0001150 | 99.19 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7037 | yes | 83.10 |
| E-ANND-3 | yes | 6.47 |
| E-GEOD-93593 | no | 6.33 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
27 targeting DDX39B, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-6756-5P | 99.82 | 67.97 | 2466 |
| HSA-MIR-548AJ-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548F-5P | 99.78 | 71.02 | 3093 |
| HSA-MIR-548G-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548X-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-92A-2-5P | 99.75 | 67.01 | 2164 |
| HSA-MIR-6766-5P | 99.68 | 67.70 | 2325 |
| HSA-MIR-2053 | 99.57 | 69.15 | 1635 |
| HSA-MIR-6751-5P | 99.56 | 64.99 | 1145 |
| HSA-MIR-671-5P | 99.52 | 67.11 | 1277 |
| HSA-MIR-2115-3P | 99.31 | 69.68 | 2026 |
| HSA-MIR-642A-3P | 99.23 | 67.67 | 1258 |
| HSA-MIR-642B-3P | 99.23 | 67.67 | 1258 |
| HSA-MIR-6803-5P | 99.19 | 63.90 | 1026 |
| HSA-MIR-4651 | 99.06 | 67.57 | 2002 |
| HSA-MIR-140-3P | 99.04 | 67.69 | 1324 |
| HSA-MIR-608 | 98.93 | 67.83 | 2013 |
| HSA-MIR-6846-5P | 98.81 | 65.86 | 1121 |
| HSA-MIR-6848-5P | 98.81 | 65.49 | 1126 |
| HSA-MIR-876-3P | 98.76 | 68.23 | 945 |
| HSA-MIR-323A-5P | 98.59 | 65.13 | 651 |
| HSA-MIR-6852-3P | 98.54 | 67.60 | 1468 |
| HSA-MIR-4433A-3P | 97.75 | 62.82 | 1435 |
| HSA-MIR-3909 | 97.55 | 66.78 | 887 |
| HSA-MIR-6835-5P | 95.81 | 64.27 | 500 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 63.2% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 40)
- BAT1 transcription on the 7.1 AH (diabetes-resistant ancestral haplotype)is modified by interactions involving DNA flanking positions -22 and -348 in the promotor (PMID:15028669)
- The structures of UAP56/Sub2(BAT1) reveal a unique spatial arrangement of the two conserved helicase domains, and ADP-binding induces significant conformational changes of key residues in the ATP-binding pocket (PMID:15585580)
- recruitment of the human TREX complex to spliced mRNA is not directly coupled to transcription, but is instead coupled to transcription indirectly through splicing (PMID:15998806)
- UAP56 provides a herpesviral regulatory protein with access to a conserved cellular transport system in order to promote nuclear export of unspliced RNA. (PMID:16478985)
- Reducing the expression of UAP56 and URH49 resulted in a reduction in reporter gene expression as well as cell death within 72 h suggest that both helicases have essential but largely overlapping functions in the processing and export of mammalian mRNAs. (PMID:16949217)
- Minor homozygous genotypes of polymorphisms in BAT1 were associated with moderately protective effects against myocardial infarction. (PMID:17517687)
- UAP56 has ATPase and helicase activity and roles in spliceosome assembly and mRNA export (PMID:17562711)
- The role of BAT1 in the regulation of tumor necrosis factor-a suggests that BAT1 may regulate the inflammatory response observed in patients with rheumatoid arthritis. (PMID:18381799)
- The equilibrium binding of UAP56 in complexes at speckled domains was directly regulated by ATP binding. (PMID:18411249)
- hUAP56 first interacts with U2AF(65) in an ATP-dependent manner, and subsequently with U4/U6 snRNAs to facilitate stepwise assembly of the spliceosome. (PMID:18593880)
- APOE epsilon4 was associated with an independent increase in risk for Alzheimer’s disease (AD) in individuals with TNFA -850*2, while carriage of BAT1 -22*2 reduced the risk for AD, independent of APOE epsilon4 genotype (PMID:18715507)
- The authors demonstrate that ORF57 recruits several members of hTREX, namely Aly, UAP56 and hTHO-complex proteins, onto the viral mRNAs to assemble an export-competent ribonucleoprotein particle. (PMID:19264631)
- This report summarizes recent evidence for the role of UAP56 in pre-mRNA splicing and nuclear export. (PMID:19403039)
- UAP56 is an important regulator of protein synthesis and plays an important role in the regulation of cardiomyocyte growth. (PMID:20116367)
- Data show that the two closely related RNA helicases UAP56 and URH49 have evolved to form distinct mRNA export machineries, which regulate mitosis at different steps. (PMID:20573985)
- Using a UL69 viral mutant that is unable to bind UAP56 and URH49, the authors demonstrated that UL69’s interaction with UAP56 or URH49 does not contribute to the growth phenotype associated with the UL69 deletion mutant. (PMID:20610707)
- UAP56 binding was shown to represent a unique characteristic of members of the genus Cytomegalovirus that is required for efficient replication of HCMV and required for nuclear mRNA export. (PMID:21147923)
- These findings demonstrate that replication of the inlfuenza virus genome is followed by its encapsidation by NP in collaboration with its chaperone UAP56. (PMID:21507964)
- In summary, these data demonstrate that UAP56 is utilized by influenza A viruses to prevent the formation of dsRNA and, hence, the activation of the innate immune response. (PMID:21680511)
- UAP56 and URH49 exhibit an intrinsic CRM1-independent nucleocytoplasmic shuttling (PMID:21799930)
- Mx proteins exert their antiviral activity against IAV by interfering with the function of the RNA helicases UAP56 and URH49 (PMID:21859714)
- We unravel the role of unexplored immunologically important genes, BAT1 and BTNL2, and the haplotypes of the significantly associated SNPs therein, to understand susceptibility to the disease, leprosy and its differential severity. (PMID:22071774)
- these data identify UAP56 as an important binding partner of Bcr and a novel target for inhibiting vascular smooth muscle cell proliferation. (PMID:22446327)
- The G allele of DDX39B-22C > G was associated with absent or decreased manifestations of vivax malaria and the C allele was a risk factor for disease complications. (PMID:25038626)
- However, no significant association was observed between the DDX39B -22 G/C polymorphism in the cases and controls. Furthermore, it is clarified that the protective effect of IL-4 -590 is independent from APOE protective genotypes (PMID:26265379)
- DDX39B and its paralog DDX39A regulate androgen receptor splice variant AR-V7 generation (PMID:28025139)
- Distinct features of RNA influence and ATPase efficiency between UAP56 and TcSub2 may reflect distinct structures for functional sites of TcSub2. For this reason, ligand-based or structure-based methodologies can be applied to investigate the potential of TcSub2 as a target for new drugs. (PMID:28212935)
- Study showed that a genetic variant in the 5’ UTR of DDX39B reduces translation of DDX39B mRNAs and increases multiple sclerosis (MS) risk. Importantly, this DDX39B variant showed strong genetic & functional epistasis with allelic variants in IL7R exon 6; study establishes the occurrence of biological epistasis in humans & provides mechanistic insight into the regulation of IL7R exon 6 splicing & its impact on MS risk. (PMID:28340352)
- DDX39B promotes proliferation and colony forming potential of cells and its levels are significantly elevated in diverse cancer types.DDX39B regulates the pre-ribosomal RNA levels. (PMID:30176153)
- Cellular mRNA export factor UAP56 recognizes nucleic acid binding site of influenza virus NP protein. (PMID:32085897)
- THE BRANCHED-CHAIN AMINO ACID TRANSAMINASE 1 -23C/G POLYMORPHISM CONFERS PROTECTION AGAINST ACUTE CORONARY SYNDROME. (PMID:32132739)
- Cellular UAP56 interacts with the HBx protein of the hepatitis B virus and is involved in viral RNA nuclear export in hepatocytes. (PMID:32169426)
- DDX39B interacts with the pattern recognition receptor pathway to inhibit NF-kappaB and sensitize to alkylating chemotherapy. (PMID:32209106)
- UAP56/DDX39B is a major cotranscriptional RNA-DNA helicase that unwinds harmful R loops genome-wide. (PMID:32439635)
- Suppression of DDX39B sensitizes ovarian cancer cells to DNA-damaging chemotherapeutic agents via destabilizing BRCA1 mRNA. (PMID:32989256)
- The DDX39B/FUT3/TGFbetaR-I axis promotes tumor metastasis and EMT in colorectal cancer. (PMID:33436563)
- DDX39B Predicts Poor Survival and Associated with Clinical Benefit of Anti-PD-L1 Therapy in ccRCC. (PMID:34382524)
- DDX39B drives colorectal cancer progression by promoting the stability and nuclear translocation of PKM2. (PMID:35973989)
- RETSAT associates with DDX39B to promote fork restarting and resistance to gemcitabine based chemotherapy in pancreatic ductal adenocarcinoma. (PMID:36109793)
- DDX39B facilitates the malignant progression of hepatocellular carcinoma via activation of SREBP1-mediated de novo lipid synthesis. (PMID:37052853)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ddx39b | ENSDARG00000036069 |
| mus_musculus | Ddx39b | ENSMUSG00000019432 |
| rattus_norvegicus | Ddx39b | ENSRNOG00000000841 |
Paralogs (38): DDX20 (ENSG00000064703), DDX3Y (ENSG00000067048), DDX1 (ENSG00000079785), DDX43 (ENSG00000080007), DDX18 (ENSG00000088205), DDX24 (ENSG00000089737), DDX17 (ENSG00000100201), DDX49 (ENSG00000105671), DDX50 (ENSG00000107625), DDX5 (ENSG00000108654), DDX25 (ENSG00000109832), DDX6 (ENSG00000110367), DDX55 (ENSG00000111364), DDX59 (ENSG00000118197), DDX54 (ENSG00000123064), DDX39A (ENSG00000123136), DDX27 (ENSG00000124228), DDX31 (ENSG00000125485), DDX56 (ENSG00000136271), EIF4A3 (ENSG00000141543), DDX46 (ENSG00000145833), DDX4 (ENSG00000152670), EIF4A2 (ENSG00000156976), DDX19B (ENSG00000157349), EIF4A1 (ENSG00000161960), DDX21 (ENSG00000165732), DDX19A (ENSG00000168872), TDRD12 (ENSG00000173809), DDX23 (ENSG00000174243), DDX10 (ENSG00000178105), DDX28 (ENSG00000182810), DDX41 (ENSG00000183258), DDX53 (ENSG00000184735), DDX51 (ENSG00000185163), DDX42 (ENSG00000198231), DDX47 (ENSG00000213782), DDX3X (ENSG00000215301), DDX52 (ENSG00000278053)
Protein
Protein identifiers
Spliceosome RNA helicase DDX39B — Q13838 (reviewed: Q13838)
Alternative names: 56 kDa U2AF65-associated protein, ATP-dependent RNA helicase p47, DEAD box protein UAP56, HLA-B-associated transcript 1 protein
All UniProt accessions (15): A0A024RCM3, A0A0A0MT12, Q13838, F6QYI9, F6R6M7, F6S2B7, F6S4E6, F6SXL5, F6TRA5, F6U6E2, F6UJC5, F6WLT2, H0Y400, H0YCC6, Q5STU3
UniProt curated annotations — full annotation on UniProt →
Function. Involved in nuclear export of spliced and unspliced mRNA. Component of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and specifically associates with spliced mRNA and not with unspliced pre-mRNA. The TREX complex is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5’ end of the mRNA where it functions in mRNA export to the cytoplasm via the TAP/NXF1 pathway. The THOC1-THOC2-THOC3 core complex alone is sufficient to promote ATPase activity of DDX39B; in the complex THOC2 is the only component that directly interacts with DDX39B. Associates with SARNP/CIP29, which facilitates RNA binding of DDX39B and likely plays a role in mRNA export. May undergo several rounds of ATP hydrolysis during assembly of TREX to drive subsequent loading of components such as ALYREF/THOC4 and CHTOP onto mRNA. Also associates with pre-mRNA independent of ALYREF/THOC4. Involved in the nuclear export of intronless mRNA; the ATP-bound form is proposed to recruit export adapter ALYREF/THOC4 to intronless mRNA; its ATPase activity is cooperatively stimulated by RNA and ALYREF/THOC4 and ATP hydrolysis is thought to trigger the dissociation from RNA to allow the association of ALYREF/THOC4 and the NXF1-NXT1 heterodimer. Involved in transcription elongation and genome stability. Splice factor that is required for the first ATP-dependent step in spliceosome assembly and for the interaction of U2 snRNP with the branchpoint. Has both RNA-stimulated ATP binding/hydrolysis activity and ATP-dependent RNA unwinding activity. Even with the stimulation of RNA, the ATPase activity is weak. Can only hydrolyze ATP but not other NTPs. The RNA stimulation of ATPase activity does not have a strong preference for the sequence and length of the RNA. However, ssRNA stimulates the ATPase activity much more strongly than dsRNA. Can unwind 5’ or 3’ overhangs or blunt end RNA duplexes in vitro. The ATPase and helicase activities are not influenced by U2AF2; the effect of ALYREF/THOC4 is reported conflictingly with [PubMed:23299939] reporting a stimulatory effect. (Microbial infection) The TREX complex is essential for the export of Kaposi’s sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production.
Subunit / interactions. Homodimer, and heterodimer with DDX39A. DDX39B interacts with the THO subcomplex to form the THO-DDX39B complex which multimerizes into a 28-subunit tetrameric assembly. Component of the transcription/export (TREX) complex at least composed of ALYREF/THOC4, DDX39B, SARNP/CIP29, CHTOP and the THO subcomplex; in the complex interacts with THOC2. THOC1-THOC2-THOC3-DDX39B subcomplex is sufficient for the interaction with export factor NXF1-NXT1. TREX seems to have a dynamic structure involving ATP-dependent remodeling. Within the TREX complex bridges ALYREF/THOC4 and the THO subcomplex, and, in a ATP-dependent manner, ALYREF/THOC4 and SARNP/CIP29. Component of the spliceosome. Interacts directly with U2AF2. Interacts with RBM8A, RNPS1 and SRRM1, FYTTD1/UIF, THOC1, MX1 and POLDIP3. Interacts with LUZP4. Interacts with SARNP/CIP29 (via the C-terminal domain); the interaction is direct and facilitates RNA binding of DDX39B. (Microbial infection) Interacts with human cytomegalovirus/HHV-5 protein UL69.
Subcellular location. Nucleus. Nucleus speckle. Cytoplasm.
Domain organisation. The helicase C-terminal domain mediates interaction with ALYREF/THOC4.
Similarity. Belongs to the DEAD box helicase family. DECD subfamily.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q13838-1 | 1 | yes |
| Q13838-2 | 2 |
RefSeq proteins (2): NP_004631, NP_542165 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001650 | Helicase_C-like | Domain |
| IPR011545 | DEAD/DEAH_box_helicase_dom | Domain |
| IPR014001 | Helicase_ATP-bd | Domain |
| IPR014014 | RNA_helicase_DEAD_Q_motif | Domain |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
Pfam: PF00270, PF00271
Catalyzed reactions (Rhea), 1 shown:
- ATP + H2O = ADP + phosphate + H(+) (RHEA:13065)
UniProt features (65 total): helix 20, strand 19, mutagenesis site 7, modified residue 5, domain 2, turn 2, short sequence motif 2, initiator methionine 1, chain 1, cross-link 1, splice variant 1, sequence conflict 1, region of interest 1, compositionally biased region 1, binding site 1
Structure
Experimental structures (PDB)
17 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 1T5I | X-RAY DIFFRACTION | 1.9 |
| 1T6N | X-RAY DIFFRACTION | 1.94 |
| 1XTI | X-RAY DIFFRACTION | 1.95 |
| 1XTK | X-RAY DIFFRACTION | 2.4 |
| 8ENK | X-RAY DIFFRACTION | 2.5 |
| 1XTJ | X-RAY DIFFRACTION | 2.7 |
| 9DLP | ELECTRON MICROSCOPY | 2.79 |
| 9T6L | ELECTRON MICROSCOPY | 2.9 |
| 9DLV | ELECTRON MICROSCOPY | 2.97 |
| 9T6N | ELECTRON MICROSCOPY | 3 |
| 9DLR | ELECTRON MICROSCOPY | 3.08 |
| 7APK | ELECTRON MICROSCOPY | 3.3 |
| 9UPB | ELECTRON MICROSCOPY | 3.41 |
| 7ZNL | ELECTRON MICROSCOPY | 3.45 |
| 8R7K | ELECTRON MICROSCOPY | 3.5 |
| 7ZNK | ELECTRON MICROSCOPY | 3.9 |
| 8R7L | ELECTRON MICROSCOPY | 4.12 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q13838-F1 | 85.34 | 0.64 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (1): 89–96
Post-translational modifications (6): 36, 38, 41, 172, 36, 2
Mutagenesis-validated functional residues (7):
| Position | Phenotype |
|---|---|
| 94–96 | loss of atpase and helicase activity. |
| 95 | loss of atpase and helicase activity. |
| 197 | loss of atpase and helicase activity. |
| 198 | no effect on atpase activity. |
| 199 | increased atpase activity and loss of helicase activity. |
| 228–230 | decreased atpase activity and loss of helicase activity. |
| 283 | abolishes interaction with sarnp; when associated with 2-a–t-258 del. |
Function
Pathways and Gene Ontology
Reactome pathways
5 pathways
| ID | Pathway |
|---|---|
| R-HSA-159236 | Transport of Mature mRNA derived from an Intron-Containing Transcript |
| R-HSA-72163 | mRNA Splicing - Major Pathway |
| R-HSA-72187 | mRNA 3’-end processing |
| R-HSA-9013418 | RHOBTB2 GTPase cycle |
| R-HSA-73856 | RNA Polymerase II Transcription Termination |
MSigDB gene sets: 252 (showing top):
HORIUCHI_WTAP_TARGETS_DN, MORF_SMC1L1, MORF_SNRP70, MORF_UBE2I, MATTIOLI_MGUS_VS_PCL, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, MORF_HDAC1, MORF_UBE2N, HSIAO_HOUSEKEEPING_GENES, MORF_HDAC2, PUJANA_CHEK2_PCC_NETWORK, GOBP_NUCLEAR_TRANSPORT, MORF_TERF1, RHEIN_ALL_GLUCOCORTICOID_THERAPY_UP, MORF_CTBP1
GO Biological Process (7): spliceosomal complex assembly (GO:0000245), mRNA splicing, via spliceosome (GO:0000398), RNA export from nucleus (GO:0006405), mRNA export from nucleus (GO:0006406), RNA splicing (GO:0008380), mRNA processing (GO:0006397), mRNA transport (GO:0051028)
GO Molecular Function (15): RNA binding (GO:0003723), RNA helicase activity (GO:0003724), mRNA binding (GO:0003729), ATP binding (GO:0005524), ATP-dependent activity, acting on RNA (GO:0008186), ATP hydrolysis activity (GO:0016887), U6 snRNA binding (GO:0017070), U4 snRNA binding (GO:0030621), identical protein binding (GO:0042802), ATP-dependent protein binding (GO:0043008), nucleotide binding (GO:0000166), nucleic acid binding (GO:0003676), helicase activity (GO:0004386), protein binding (GO:0005515), hydrolase activity (GO:0016787)
GO Cellular Component (8): transcription export complex (GO:0000346), nucleus (GO:0005634), nucleoplasm (GO:0005654), spliceosomal complex (GO:0005681), U4 snRNP (GO:0005687), U6 snRNP (GO:0005688), cytoplasm (GO:0005737), nuclear speck (GO:0016607)
Reactome top-level categories
Rollup of top-5 pathways:
| Category | Pathways |
|---|---|
| Transport of Mature Transcript to Cytoplasm | 1 |
| mRNA Splicing | 1 |
| Processing of Capped Intron-Containing Pre-mRNA | 1 |
| RHOBTB GTPase Cycle | 1 |
| RNA Polymerase II Transcription | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| ATP-dependent activity | 3 |
| RNA transport | 2 |
| RNA processing | 2 |
| snRNA binding | 2 |
| protein binding | 2 |
| binding | 2 |
| nuclear protein-containing complex | 2 |
| cellular anatomical structure | 2 |
| spliceosomal snRNP complex | 2 |
| mRNA splicing, via spliceosome | 1 |
| protein-RNA complex assembly | 1 |
| RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 1 |
| mRNA processing | 1 |
| nuclear export | 1 |
| RNA export from nucleus | 1 |
| gene expression | 1 |
| mRNA transport | 1 |
| mRNA metabolic process | 1 |
| nucleic acid binding | 1 |
| helicase activity | 1 |
| ATP-dependent activity, acting on RNA | 1 |
| catalytic activity, acting on RNA | 1 |
| RNA binding | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| nucleic acid conformation isomerase activity | 1 |
| catalytic activity, acting on a nucleic acid | 1 |
| catalytic activity | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| ribonucleoprotein complex | 1 |
| Lsm2-8 complex | 1 |
| intracellular anatomical structure | 1 |
| nuclear ribonucleoprotein granule | 1 |
Protein interactions and networks
STRING
4353 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DDX39B | ALYREF | Q86V81 | 999 |
| DDX39B | THOC2 | Q8NI27 | 998 |
| DDX39B | THOC3 | Q96J01 | 998 |
| DDX39B | THOC1 | Q96FV9 | 995 |
| DDX39B | SARNP | P82979 | 995 |
| DDX39B | CHTOP | Q9Y3Y2 | 982 |
| DDX39B | U2AF2 | P26368 | 974 |
| DDX39B | FYTTD1 | Q96QD9 | 972 |
| DDX39B | POLDIP3 | Q9BY77 | 964 |
| DDX39B | THOC5 | Q13769 | 927 |
| DDX39B | RAE1 | P78406 | 914 |
| DDX39B | NXF1 | Q9UBU9 | 881 |
| DDX39B | THOC7 | Q6I9Y2 | 876 |
| DDX39B | THOC6 | Q86W42 | 873 |
| DDX39B | HNRNPA1 | P09651 | 842 |
IntAct
227 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| THOC1 | THOC5 | psi-mi:“MI:0914”(association) | 0.930 |
| DDX39B | CHTOP | psi-mi:“MI:0915”(physical association) | 0.870 |
| SARNP | DDX39B | psi-mi:“MI:0915”(physical association) | 0.800 |
| DDX39B | THOC5 | psi-mi:“MI:0915”(physical association) | 0.800 |
| DDX39A | DDX39B | psi-mi:“MI:0915”(physical association) | 0.770 |
| DDX39B | ALYREF | psi-mi:“MI:0914”(association) | 0.770 |
| DDX39A | DDX39B | psi-mi:“MI:0914”(association) | 0.770 |
| SARNP | DDX39A | psi-mi:“MI:0914”(association) | 0.740 |
| MED19 | MED19 | psi-mi:“MI:0914”(association) | 0.730 |
| DDX39B | FYTTD1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| DDX39B | DDX39B | psi-mi:“MI:0915”(physical association) | 0.670 |
| SNRPA | DDX39B | psi-mi:“MI:0915”(physical association) | 0.670 |
| THOC1 | EIF4A3 | psi-mi:“MI:0914”(association) | 0.660 |
| NCBP1 | KPNA3 | psi-mi:“MI:0914”(association) | 0.640 |
| NCBP2 | KPNA3 | psi-mi:“MI:0914”(association) | 0.640 |
| SF3B1 | SAP18 | psi-mi:“MI:0914”(association) | 0.640 |
| THOC1 | DDX39A | psi-mi:“MI:0914”(association) | 0.640 |
| DDX39B | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (1020): DDX39B (Affinity Capture-MS), DDX39B (Affinity Capture-MS), DDX39B (Affinity Capture-MS), DDX39B (Affinity Capture-MS), DDX39B (Affinity Capture-MS), DDX39B (Affinity Capture-MS), DDX39B (Affinity Capture-MS), DDX39B (Affinity Capture-Western), LUZP4 (Reconstituted Complex), DDOST (Co-fractionation), DDX39B (Co-fractionation), DDX39B (Co-fractionation), DDX39B (Co-fractionation), DDX39B (Co-fractionation), DDX39B (Co-fractionation)
ESM2 similar proteins: A1CMQ7, A1DL85, A2R0B5, A3LST5, A4RBS3, A5DDN0, A5E3W5, A6R603, A6ZXP4, A7EIX7, A7TJT7, A7TLA0, O00148, O13792, P0CQ96, P0CQ97, P54823, P60024, Q07478, Q0CGJ9, Q0JM17, Q0TXZ2, Q13838, Q18212, Q1DI07, Q27268, Q29024, Q29S22, Q2H4D0, Q2U6P7, Q3T147, Q4WCW2, Q56XG6, Q5ASK8, Q5JK84, Q5RE47, Q5TM17, Q5U216, Q5WR10, Q5ZHZ0
Diamond homologs: A1C595, A1CJT5, A1CMQ7, A1D071, A1D7N3, A1DL85, A2QEN5, A2R0B5, A3GFI4, A3GFV3, A3LST5, A4QU31, A4QVP2, A4RBS3, A5AAE5, A5DB98, A5DDN0, A5DE68, A5DVM3, A5E3W5, A6QSQ0, A6R603, A6RJ45, A6ZQJ1, A6ZXP4, A7EGL7, A7EIX7, A7EM88, A7TJT7, A7TK55, A7TLA0, O00148, O02494, O13792, P0CQ70, P0CQ71, P0CQ96, P0CQ97, P10081, P10630
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| DDX39B | “form complex” | “TREX complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 167 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Transport of Mature Transcript to Cytoplasm | 10 | 32.0× | 3e-11 |
| mRNA 3’-end processing | 19 | 31.4× | 3e-21 |
| Metabolism of non-coding RNA | 5 | 26.7× | 6e-05 |
| RNA Polymerase II Transcription Termination | 14 | 25.8× | 2e-14 |
| Transport of Mature mRNA derived from an Intron-Containing Transcript | 17 | 21.8× | 3e-16 |
| Processing of Capped Intron-Containing Pre-mRNA | 21 | 14.5× | 2e-16 |
| HIV Transcription Elongation | 5 | 14.1× | 1e-03 |
| Nuclear RNA decay | 5 | 13.0× | 1e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mRNA export from nucleus | 16 | 32.2× | 3e-17 |
| U2-type prespliceosome assembly | 5 | 21.2× | 7e-04 |
| spliceosomal snRNP assembly | 5 | 19.8× | 8e-04 |
| nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 5 | 15.9× | 2e-03 |
| mRNA splicing, via spliceosome | 20 | 12.5× | 9e-14 |
| RNA splicing | 17 | 10.2× | 4e-10 |
| mRNA processing | 14 | 7.5× | 2e-06 |
| response to ethanol | 7 | 7.0× | 6e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
3 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 1 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2519 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:31530773:A:AC | donor_gain | 1.0000 |
| 6:31530774:C:CC | donor_gain | 1.0000 |
| 6:31530774:CTCA:C | donor_gain | 1.0000 |
| 6:31530775:TCA:T | donor_loss | 1.0000 |
| 6:31530776:CA:C | donor_loss | 1.0000 |
| 6:31530777:A:AC | donor_gain | 1.0000 |
| 6:31530777:AC:A | donor_loss | 1.0000 |
| 6:31530778:C:CA | donor_gain | 1.0000 |
| 6:31530778:C:CT | donor_gain | 1.0000 |
| 6:31530778:CT:C | donor_gain | 1.0000 |
| 6:31530778:CTG:C | donor_gain | 1.0000 |
| 6:31530778:CTGT:C | donor_gain | 1.0000 |
| 6:31530778:CTGTA:C | donor_gain | 1.0000 |
| 6:31530926:CCT:C | acceptor_loss | 1.0000 |
| 6:31530927:C:CG | acceptor_loss | 1.0000 |
| 6:31530927:CT:C | acceptor_loss | 1.0000 |
| 6:31531047:GTTTA:G | donor_loss | 1.0000 |
| 6:31531048:TTTA:T | donor_loss | 1.0000 |
| 6:31531048:TTTAC:T | donor_loss | 1.0000 |
| 6:31531049:TTA:T | donor_loss | 1.0000 |
| 6:31531049:TTAC:T | donor_loss | 1.0000 |
| 6:31531050:TACC:T | donor_loss | 1.0000 |
| 6:31531050:TACCC:T | donor_loss | 1.0000 |
| 6:31531051:A:AC | donor_gain | 1.0000 |
| 6:31531051:A:AG | donor_loss | 1.0000 |
| 6:31531051:A:AT | donor_loss | 1.0000 |
| 6:31531051:AC:A | donor_gain | 1.0000 |
| 6:31531052:C:CC | donor_gain | 1.0000 |
| 6:31531052:CC:C | donor_gain | 1.0000 |
| 6:31531197:CC:C | acceptor_loss | 1.0000 |
AlphaMissense
2862 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:31530828:A:C | F407L | 1.000 |
| 6:31530828:A:T | F407L | 1.000 |
| 6:31530830:A:G | F407L | 1.000 |
| 6:31530906:A:C | F381L | 1.000 |
| 6:31530906:A:T | F381L | 1.000 |
| 6:31530908:A:G | F381L | 1.000 |
| 6:31531373:G:C | C300W | 1.000 |
| 6:31538835:A:C | C120W | 1.000 |
| 6:31539206:C:G | G94R | 1.000 |
| 6:31539206:C:T | G94R | 1.000 |
| 6:31540338:A:C | F65L | 1.000 |
| 6:31540338:A:T | F65L | 1.000 |
| 6:31540340:A:G | F65L | 1.000 |
| 6:31530832:C:G | R406P | 0.999 |
| 6:31530850:A:G | L400P | 0.999 |
| 6:31530883:G:T | T389K | 0.999 |
| 6:31530889:G:T | A387D | 0.999 |
| 6:31530895:C:T | G385D | 0.999 |
| 6:31530896:C:G | G385R | 0.999 |
| 6:31530913:C:T | G379D | 0.999 |
| 6:31531054:C:G | R374P | 0.999 |
| 6:31531058:G:C | H373D | 0.999 |
| 6:31531092:A:C | N361K | 0.999 |
| 6:31531092:A:T | N361K | 0.999 |
| 6:31531127:C:G | G350R | 0.999 |
| 6:31531150:A:T | V342E | 0.999 |
| 6:31531153:A:G | L341P | 0.999 |
| 6:31531374:C:T | C300Y | 0.999 |
| 6:31531394:A:C | F293L | 0.999 |
| 6:31531394:A:T | F293L | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000206682 (6:31543039 C>G,T), RS1000501115 (6:31537902 A>G), RS1000639768 (6:31530616 T>A), RS1000684336 (6:31530463 C>T), RS1000783743 (6:31537688 A>G), RS1001010377 (6:31531062 G>A), RS1001076799 (6:31543436 C>G,T), RS1001148780 (6:31537720 G>A,C), RS1001362107 (6:31533826 C>A), RS1001426600 (6:31531965 A>G), RS1001624394 (6:31538593 G>A,C), RS1002055197 (6:31538266 C>G), RS1002358117 (6:31537280 A>G,T), RS1002767048 (6:31532316 G>A), RS1003081366 (6:31535838 T>C)
Disease associations
OMIM: gene MIM:142560 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| neurodevelopmental disorder | Limited | Autosomal dominant |
Mondo (1): neurodevelopmental disorder (MONDO:0700092)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
32 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000308_1 | AIDS progression | 3.000000e-19 |
| GCST001239_1 | Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS-TEN) | 2.000000e-08 |
| GCST001363_6 | Atopic dermatitis | 2.000000e-06 |
| GCST003092_22 | Myositis | 3.000000e-49 |
| GCST003092_23 | Myositis | 6.000000e-49 |
| GCST004131_25 | Inflammatory bowel disease | 2.000000e-31 |
| GCST004133_79 | Ulcerative colitis | 5.000000e-65 |
| GCST004521_114 | Autism spectrum disorder or schizophrenia | 3.000000e-17 |
| GCST004521_117 | Autism spectrum disorder or schizophrenia | 3.000000e-15 |
| GCST004521_126 | Autism spectrum disorder or schizophrenia | 2.000000e-10 |
| GCST004521_209 | Autism spectrum disorder or schizophrenia | 5.000000e-16 |
| GCST004521_211 | Autism spectrum disorder or schizophrenia | 5.000000e-15 |
| GCST004521_213 | Autism spectrum disorder or schizophrenia | 5.000000e-13 |
| GCST004521_265 | Autism spectrum disorder or schizophrenia | 7.000000e-14 |
| GCST004521_27 | Autism spectrum disorder or schizophrenia | 1.000000e-09 |
| GCST004521_3 | Autism spectrum disorder or schizophrenia | 2.000000e-15 |
| GCST004521_70 | Autism spectrum disorder or schizophrenia | 8.000000e-20 |
| GCST004521_81 | Autism spectrum disorder or schizophrenia | 1.000000e-14 |
| GCST004599_42 | Mean platelet volume | 2.000000e-24 |
| GCST004609_64 | Monocyte percentage of white cells | 4.000000e-13 |
| GCST004863_114 | Mosquito bite size | 2.000000e-17 |
| GCST008916_111 | Asthma | 2.000000e-14 |
| GCST008916_114 | Asthma | 1.000000e-09 |
| GCST008916_30 | Asthma | 1.000000e-09 |
| GCST008917_2 | Asthma (childhood onset) | 4.000000e-07 |
| GCST008921_1 | Asthma and major depressive disorder | 2.000000e-16 |
| GCST010725_43 | Malaria | 5.000000e-07 |
| GCST010725_62 | Malaria | 3.000000e-06 |
| GCST90002385_552 | High light scatter reticulocyte count | 5.000000e-24 |
| GCST90002397_119 | Mean spheric corpuscular volume | 2.000000e-27 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007989 | monocyte percentage of leukocytes |
| EFO:0008378 | mosquito bite reaction size measurement |
| EFO:0007986 | reticulocyte count |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D065886 | Neurodevelopmental Disorders | F03.625 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6066325 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs2734583 | DDX39B, SNORD117 | 3 | 3.75 | 1 | allopurinol |
ChEMBL bioactivities
2 potent at pChembl≥5 of 4 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 6.02 | Kd | 956.8 | nM | CHEMBL5653589 |
| 6.02 | ED50 | 956.8 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 4 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148222: Binding affinity to human DDX39B incubated for 45 mins by Kinobead based pull down assay | kd | 0.9568 | uM |
CTD chemical–gene interactions
42 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression | 2 |
| Valproic Acid | decreases expression, affects expression | 2 |
| bisphenol F | increases expression | 1 |
| TAK-243 | decreases sumoylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| trichostatin A | affects cotreatment, decreases expression | 1 |
| beta-lapachone | decreases expression, increases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, increases expression | 1 |
| vanadyl sulfate | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| nutlin 3 | affects cotreatment, increases secretion | 1 |
| ICG 001 | decreases expression | 1 |
| 2-amino-14,16-dimethyloctadecan-3-ol | decreases expression | 1 |
| bromovanin | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | decreases expression | 1 |
| Temozolomide | increases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Vehicle Emissions | increases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Calcium Chloride | increases expression | 1 |
| Carcinogens | decreases expression | 1 |
| Coumestrol | affects cotreatment, increases expression | 1 |
| Dactinomycin | affects cotreatment, increases secretion | 1 |
| Doxorubicin | decreases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5651264 | Binding | Binding affinity to human DDX39B incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Cellosaurus cell lines
475 cell lines: 475 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_0006 | THP-1 | Cancer cell line | Male |
| CVCL_0R21 | THP-1/DC-SIGN | Cancer cell line | Male |
| CVCL_0R25 | THP-1(NCI) | Cancer cell line | Male |
| CVCL_0R26 | THP-1(NCI)/DC-SIGN | Cancer cell line | Male |
| CVCL_3426 | THP-1h | Cancer cell line | Male |
| CVCL_3427 | THP-1l | Cancer cell line | Male |
| CVCL_4V22 | THP-1/ara-C | Cancer cell line | Male |
| CVCL_5115 | A-THP-1 | Cancer cell line | Male |
| CVCL_5I76 | THP1-defCASP1 | Cancer cell line | Male |
| CVCL_5I77 | THP1-NLRC4 | Cancer cell line | Male |
Clinical trials (associated diseases)
202 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT04586348 | PHASE4 | UNKNOWN | Prenatal Iodine Supplementation and Early Childhood Neurodevelopment |
| NCT04873115 | PHASE4 | UNKNOWN | Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties, |
| NCT02559102 | PHASE3 | COMPLETED | Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants |
| NCT02757079 | PHASE3 | COMPLETED | Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders |
| NCT06915480 | PHASE3 | RECRUITING | Reducing Missed Appointments |
| NCT07377032 | PHASE3 | RECRUITING | TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders |
| NCT02909959 | PHASE2 | COMPLETED | Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder |
| NCT06081348 | PHASE2 | RECRUITING | Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders |
| NCT06352372 | PHASE2 | COMPLETED | Safety and Efficacy of tPBM for Epileptiform Activity in Autism |
| NCT00503191 | PHASE1 | COMPLETED | NeuroModulation Technique Treatment of Autism |
| NCT04475848 | PHASE1 | COMPLETED | A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants |
| NCT06300398 | PHASE1 | COMPLETED | IAMA-6 Oral Dose Study in Healthy Adults |
| NCT01783041 | PHASE2/PHASE3 | COMPLETED | Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants |
| NCT05767385 | PHASE2/PHASE3 | RECRUITING | Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior |
| NCT05675098 | EARLY_PHASE1 | NOT_YET_RECRUITING | Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy |
| NCT00783783 | Not specified | COMPLETED | CYP2D6 Pharmacogenetics in Risperidone-Treated Children |
| NCT01778504 | Not specified | RECRUITING | Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders |
| NCT01850784 | Not specified | UNKNOWN | High Energy Formula Feeding in Infants With Congenital Heart Disease |
| NCT01922791 | Not specified | COMPLETED | Nutrition and Pregnancy Intervention Study |
| NCT01942525 | Not specified | UNKNOWN | Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants |
| NCT02003170 | Not specified | COMPLETED | Etiology and Early Diagnosis of Neurodevelopmental Disorders |
| NCT02118649 | Not specified | ACTIVE_NOT_RECRUITING | Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game |
| NCT02557191 | Not specified | TERMINATED | Biomarkers, Neurodevelopment and Preterm Infants |
| NCT02690675 | Not specified | COMPLETED | Iron Supplement Effect on Child Development |
| NCT02694003 | Not specified | COMPLETED | Better Nights, Better Days for Children With Neurodevelopment Disorders |
| NCT02792894 | Not specified | COMPLETED | Family Networks (FaNs) for Children With Developmental Disorders and Delays |
| NCT02871674 | Not specified | UNKNOWN | Good Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial |
| NCT02887157 | Not specified | COMPLETED | Analyzing Retinal Microanatomy in ROP |
| NCT02898298 | Not specified | COMPLETED | Positive Emotion Regulation Training in Children, Adolescents and Young Adults With and Without Developmental Disorder |
| NCT02912780 | Not specified | UNKNOWN | Introduction of Microsystems in a Level 3 Neonatal Intensive Care Unit |
| NCT03023293 | Not specified | COMPLETED | n-3 PUFAs, Irisin and Maternal Glucose Metabolism From Pregnancy to Postpartum |
| NCT03023644 | Not specified | COMPLETED | Improving Neurodevelopmental Outcomes in Children With Congenital Heart Disease: An Intervention Study |
| NCT03032991 | Not specified | UNKNOWN | Early Biomarkers of Neurodevelopment in Offspring of Diabetic Mothers |
| NCT03088189 | Not specified | TERMINATED | Effect of Parental Peri-conceptional Vitamin B12 Supplementation on Infant Neurocognitive Development in Offspring |
| NCT03096028 | Not specified | COMPLETED | Developmental Origins of Mental Health Disorders |
| NCT03148782 | Not specified | COMPLETED | Brain Plasticity Underlying Acquisition of New Organizational Skills in Children-R61 Phase |
| NCT03172104 | Not specified | COMPLETED | Neurobehavioural Development of Infants Born <30 Weeks Gestational Age Between Birth and Five Years of Age |
| NCT03222375 | Not specified | RECRUITING | SQUED™ Series 28.1 Home-use and Treatment of Autowave Reverberator of Autism |
| NCT03229928 | Not specified | COMPLETED | Clinical Testing of a Real-Time Behavior Measurement Tool: Measuring Outcomes for CHAnge |
| NCT03232489 | Not specified | UNKNOWN | Study for the Evaluation of the Feasibility of Applying Advanced MRI Scanning in Pediatric Clinical Practice |
Related Atlas pages
- Associated diseases: neurodevelopmental disorder
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): AIDS, atopic eczema, childhood onset asthma, malaria, myositis disease, neurodevelopmental disorder, Stevens-Johnson syndrome, toxic epidermal necrolysis