DDX53
geneOn this page
Also known as CAGECT26
Summary
DDX53 (DEAD-box helicase 53, HGNC:20083) is a protein-coding gene on chromosome Xp22.11, encoding Probable ATP-dependent RNA helicase DDX53 (Q86TM3).
This intronless gene encodes a protein which contains several domains found in members of the DEAD-box helicase protein family. Other members of this protein family participate in ATP-dependent RNA unwinding.
Source: NCBI Gene 168400 — RefSeq curated summary.
At a glance
- Gene–disease (curated): autism spectrum disorder (Strong, GenCC) — +1 more curated relationship
- GWAS associations: 2
- Clinical variants (ClinVar): 126 total — 3 pathogenic, 4 likely-pathogenic
- MANE Select transcript:
NM_182699
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20083 |
| Approved symbol | DDX53 |
| Name | DEAD-box helicase 53 |
| Location | Xp22.11 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CAGE, CT26 |
| Ensembl gene | ENSG00000184735 |
| Ensembl biotype | protein_coding |
| OMIM | 301079 |
| Entrez | 168400 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000327968
RefSeq mRNA: 1 — MANE Select: NM_182699
NM_182699
CCDS: CCDS35214
Canonical transcript exons
ENST00000327968 — 1 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001296626 | 22999960 | 23003589 |
Expression profiles
Bgee: expression breadth broad, 12 present calls, max score 86.34.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0487 / max 12.2016, expressed in 20 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 195749 | 0.0487 | 20 |
Top tissues by expression
232 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 86.34 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 79.57 | gold quality |
| sperm | CL:0000019 | 71.21 | gold quality |
| right testis | UBERON:0004534 | 66.99 | gold quality |
| left testis | UBERON:0004533 | 66.91 | gold quality |
| testis | UBERON:0000473 | 66.62 | gold quality |
| lower lobe of lung | UBERON:0008949 | 57.41 | silver quality |
| adult organism | UBERON:0007023 | 50.76 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 43.37 | gold quality |
| secondary oocyte | CL:0000655 | 42.57 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 42.34 | gold quality |
| colonic epithelium | UBERON:0000397 | 42.12 | gold quality |
| vastus lateralis | UBERON:0001379 | 41.82 | gold quality |
| heart right ventricle | UBERON:0002080 | 41.78 | gold quality |
| quadriceps femoris | UBERON:0001377 | 41.77 | gold quality |
| skin of hip | UBERON:0001554 | 41.76 | silver quality |
| superior vestibular nucleus | UBERON:0007227 | 41.45 | gold quality |
| superficial temporal artery | UBERON:0001614 | 41.33 | gold quality |
| oviduct epithelium | UBERON:0004804 | 41.25 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 41.10 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 40.98 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 40.88 | gold quality |
| muscle tissue | UBERON:0002385 | 40.74 | gold quality |
| amniotic fluid | UBERON:0000173 | 40.69 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 40.69 | gold quality |
| jejunal mucosa | UBERON:0000399 | 40.59 | gold quality |
| biceps brachii | UBERON:0001507 | 40.57 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 40.45 | gold quality |
| myocardium | UBERON:0002349 | 40.45 | gold quality |
| gingival epithelium | UBERON:0001949 | 40.43 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.11 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): AP1, JUN, JUND
miRNA regulators (miRDB)
12 targeting DDX53, 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-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-302B-5P | 99.50 | 69.49 | 1857 |
| HSA-MIR-302D-5P | 99.50 | 69.34 | 1863 |
| HSA-MIR-217-5P | 99.49 | 69.93 | 1419 |
| HSA-MIR-6507-5P | 99.36 | 70.46 | 2524 |
| HSA-MIR-6807-3P | 99.15 | 69.23 | 1275 |
| HSA-MIR-323B-3P | 99.14 | 68.89 | 725 |
| HSA-MIR-6074 | 98.89 | 69.64 | 2187 |
| HSA-MIR-16-1-3P | 98.70 | 69.23 | 1538 |
| HSA-MIR-374B-3P | 98.63 | 68.24 | 1360 |
| HSA-MIR-3116 | 97.07 | 65.78 | 1324 |
Literature-anchored findings (GeneRIF, showing 13)
- CAGE is expressed in a variety of cancers but not in normal tissues except testis, and might play a role in cellular proliferation. (PMID:11922625)
- results suggest that the methylation status of the CpG sites of CAGE determines its expression, and that hypomethylation of CAGE precedes the development of gastric cancer and hepatocellular carcinoma (PMID:12849980)
- CAGE promotes motility of cancer cells through activation of focal adhesion kinase (FAK). (PMID:17028776)
- Hypomethylated CAGE promoter CpG islands are frequently involved in uterine cervical carcinogenesis. (PMID:17341616)
- The CAGE gene is widely expressed in various cancer tissues and cancer cell lines. (PMID:18388483)
- CAGE induced the interaction between histone deacetylase 2 (HDAC2) and Snail, which exerted a negative effect on p53 expression in neoplastic cells; CAGE confers drug resistance by regulating expression of p53 through HDAC2. (PMID:20534591)
- miR-217-CAGE feedback loop serves as a target for overcoming resistance to various anti-cancer drugs, including EGFR and HER2 inhibitors. (PMID:26863629)
- Results show the direct regulation of CAGE expression by HDAC3 and that HDAC3-CAGE axis regulates the activation of EGFR. HDAC3 targets CAGE to regulate the tumorigenic potential and angiogenic potential of cancer cells. (PMID:26883907)
- Results provide evidence that miR-30a forms a positive feedback loop with CAGE to regulate the expression of p53 confering resistance to anti-cancer drugs. (PMID:26912082)
- DDX53 promotes stem cell-like properties, autophagy, and confers resistance to anti-cancer drugs in breast cancer cells. (PMID:28152297)
- A novel role of DDX53 in regulating cancer stem cell-like properties by binding to SOX-2.DDX53 directly regulates the SOX-2 expression in drug-resistant melanoma cells. (PMID:28535666)
- DDX53 plays a critical role in taxol-resistance by activating autophagy and a potential therapeutic target for the treatment of taxol-resistant cervix cancer. (PMID:30454700)
- Disruption of DDX53 coding sequence has limited impact on iPSC-derived human NGN2 neurons. (PMID:36635662)
Cross-species orthologs
0 orthologs
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), DDX51 (ENSG00000185163), DDX42 (ENSG00000198231), DDX39B (ENSG00000198563), DDX47 (ENSG00000213782), DDX3X (ENSG00000215301), DDX52 (ENSG00000278053)
Protein
Protein identifiers
Probable ATP-dependent RNA helicase DDX53 — Q86TM3 (reviewed: Q86TM3)
Alternative names: Cancer-associated gene protein, Cancer/testis antigen 26, DEAD box protein 53, DEAD box protein CAGE
All UniProt accessions (1): Q86TM3
UniProt curated annotations — full annotation on UniProt →
Subcellular location. Nucleus.
Tissue specificity. Expressed in testis. Wide expression in various cancer tissues and cancer cell lines.
Similarity. Belongs to the DEAD box helicase family.
RefSeq proteins (1): NP_874358* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000629 | RNA-helicase_DEAD-box_CS | Conserved_site |
| IPR001650 | Helicase_C-like | Domain |
| IPR004087 | KH_dom | Domain |
| IPR004088 | KH_dom_type_1 | Domain |
| IPR011545 | DEAD/DEAH_box_helicase_dom | Domain |
| IPR014001 | Helicase_ATP-bd | Domain |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR036612 | KH_dom_type_1_sf | Homologous_superfamily |
Pfam: PF00013, PF00270, PF00271
Catalyzed reactions (Rhea), 1 shown:
- ATP + H2O = ADP + phosphate + H(+) (RHEA:13065)
UniProt features (53 total): helix 19, strand 15, sequence variant 4, sequence conflict 4, binding site 4, domain 3, short sequence motif 2, chain 1, turn 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8KCA | X-RAY DIFFRACTION | 1.97 |
| 3IUY | X-RAY DIFFRACTION | 2.4 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q86TM3-F1 | 79.66 | 0.47 |
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 (4): 244; 249; 268–273; 311
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 29 (showing top):
LI_PROSTATE_CANCER_EPIGENETIC, GOMF_MRNA_BINDING, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES, GOMF_ATP_HYDROLYSIS_ACTIVITY, GOMF_ADENYL_NUCLEOTIDE_BINDING, GOMF_ISOMERASE_ACTIVITY, chrXp22, GENTLES_LEUKEMIC_STEM_CELL_DN, GOMF_CATALYTIC_ACTIVITY_ACTING_ON_RNA, GOMF_ATP_DEPENDENT_ACTIVITY_ACTING_ON_RNA, ZFP91_TARGET_GENES, MIR3658, MIR6074, MIR217_5P, MIR374B_3P
GO Biological Process (0):
GO Molecular Function (10): RNA helicase activity (GO:0003724), mRNA binding (GO:0003729), ATP binding (GO:0005524), ATP hydrolysis activity (GO:0016887), nucleotide binding (GO:0000166), nucleic acid binding (GO:0003676), RNA binding (GO:0003723), helicase activity (GO:0004386), protein binding (GO:0005515), hydrolase activity (GO:0016787)
GO Cellular Component (4): nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytosol (GO:0005829), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| ATP-dependent activity | 2 |
| binding | 2 |
| nuclear lumen | 2 |
| cellular anatomical structure | 2 |
| 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 binding | 1 |
| nucleic acid conformation isomerase activity | 1 |
| catalytic activity, acting on a nucleic acid | 1 |
| catalytic activity | 1 |
| intracellular membraneless organelle | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
2953 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DDX53 | CALR | P27797 | 821 |
| DDX53 | CD8A | P01732 | 763 |
| DDX53 | PTCHD1 | Q96NR3 | 729 |
| DDX53 | CD274 | Q9NZQ7 | 719 |
| DDX53 | CTAG1A | P78358 | 701 |
| DDX53 | DLGAP2 | Q9P1A6 | 694 |
| DDX53 | PPP1R15A | O75807 | 691 |
| DDX53 | CTLA4 | P16410 | 668 |
| DDX53 | CD4 | P01730 | 667 |
| DDX53 | IFNG | P01579 | 667 |
| DDX53 | EMB | Q6PCB8 | 663 |
| DDX53 | PPP1CA | P08129 | 662 |
| DDX53 | CD47 | Q08722 | 627 |
| DDX53 | SIRPA | P78324 | 623 |
| DDX53 | SHANK2 | Q9UPX8 | 600 |
IntAct
4 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| DDX43 | DDX53 | psi-mi:“MI:0915”(physical association) | 0.590 |
| INSR | BLTP3B | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (8): DDX53 (Co-fractionation), PPM1B (Co-fractionation), DDX53 (Affinity Capture-MS), EGFR (Affinity Capture-Western), DDX53 (Affinity Capture-Western), DDX53 (Affinity Capture-MS), DDX53 (Cross-Linking-MS (XL-MS)), DDX53 (Affinity Capture-Western)
ESM2 similar proteins: A2VD92, A5D7C1, A5DIX5, A5E1N2, A6ZU15, O16102, O74393, P23394, P45818, P54823, Q07886, Q09775, Q0DBS1, Q0IHV9, Q0IIK5, Q10202, Q19614, Q4R7L5, Q55CP6, Q5NVJ8, Q5T1V6, Q5XH91, Q641Y8, Q6AZV7, Q6C024, Q6CDS6, Q6CKI1, Q6FM43, Q7FGZ2, Q84T03, Q86TM3, Q8GXD6, Q90WU3, Q91VN6, Q91VR5, Q92499, Q9C551, Q9DBN9, Q9DF35, Q9FLB0
Diamond homologs: A1C6C4, A1CQA9, A1D373, A1DGZ7, A2QC74, A2QQA8, A3LQ55, A3LQW7, A4QSS5, A4RN46, A5A6J2, A5DL80, A5DS77, A5E058, A6RGE3, A6RW79, A6SFW7, A6ZRX0, A7E449, A7ENE0, A7TTT5, G0SFM2, O22907, P0CQ76, P0CQ77, P17844, P19109, P24782, P24783, P46942, Q0D1K3, Q0DB53, Q0J7Y8, Q10MH8, Q1DHB2, Q1DP69, Q26696, Q2H720, Q2HAD8, Q2R1M8
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
126 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 3 |
| Likely pathogenic | 4 |
| Uncertain significance | 95 |
| Likely benign | 13 |
| Benign | 11 |
Top pathogenic / likely-pathogenic (7)
| Variant ID | HGVS | Classification |
|---|---|---|
| 394402 | GRCh37/hg19 Xp22.11(chrX:22960744-23019707)x1 | Pathogenic |
| 394403 | GRCh37/hg19 Xp22.11(chrX:22960744-23019707)x0 | Pathogenic |
| 4277346 | GRCh37/hg19 Xp22.11-21.1(chrX:22421082-32898332)x1 | Pathogenic |
| 145962 | GRCh38/hg38 Xp22.11(chrX:22774924-23081201)x0 | Likely pathogenic |
| 395257 | GRCh37/hg19 Xp22.11(chrX:23018417-23093129)x0 | Likely pathogenic |
| 4074370 | NM_182699.4(DDX53):c.977G>A (p.Ser326Asn) | Likely pathogenic |
| 4278579 | NM_182699.4(DDX53):c.567_568insTGCAGGT (p.Glu190delinsCysArgTer) | Likely pathogenic |
SpliceAI
44 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:23000014:G:GG | donor_gain | 0.8300 |
| X:23000023:C:T | donor_gain | 0.7500 |
| X:23000017:T:G | donor_gain | 0.7200 |
| X:23000018:G:GG | donor_gain | 0.6600 |
| X:23000011:ACC:A | donor_gain | 0.5700 |
| X:23000012:CC:C | donor_gain | 0.4800 |
| X:23001399:A:T | acceptor_gain | 0.4700 |
| X:23000017:T:A | donor_gain | 0.4600 |
| X:23000013:C:G | donor_gain | 0.4400 |
| X:23000724:TTTA:T | donor_gain | 0.4400 |
| X:23000013:CG:C | donor_loss | 0.4300 |
| X:23000014:G:GT | donor_loss | 0.4300 |
| X:23000016:ATG:A | donor_loss | 0.4300 |
| X:23000017:T:TT | donor_loss | 0.4300 |
| X:23000081:G:GT | donor_gain | 0.4300 |
| X:23000018:G:A | donor_loss | 0.4200 |
| X:23000094:GC:G | donor_gain | 0.4000 |
| X:23000578:T:G | donor_gain | 0.4000 |
| X:23000009:CAACC:C | donor_gain | 0.3900 |
| X:23000010:AACC:A | donor_gain | 0.3700 |
| X:23000019:T:G | donor_loss | 0.3500 |
| X:22999980:A:AG | donor_gain | 0.3300 |
| X:23000011:ACCGT:A | donor_gain | 0.3200 |
| X:23000021:G:A | donor_gain | 0.3200 |
| X:23000176:G:T | donor_gain | 0.3100 |
| X:22999969:TGCAG:T | donor_gain | 0.2800 |
| X:23000020:AGGCG:A | donor_gain | 0.2600 |
| X:23000638:T:G | donor_gain | 0.2600 |
| X:22999981:C:G | donor_gain | 0.2500 |
| X:22999978:TG:T | donor_gain | 0.2400 |
AlphaMissense
4192 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| X:23000814:T:A | W253R | 0.967 |
| X:23000814:T:C | W253R | 0.967 |
| X:23000805:T:C | S250P | 0.883 |
| X:23000736:T:C | F227L | 0.878 |
| X:23000738:T:A | F227L | 0.878 |
| X:23000738:T:G | F227L | 0.878 |
| X:23000842:T:C | L262P | 0.878 |
| X:23000302:T:C | I82T | 0.873 |
| X:23000811:G:C | A252P | 0.872 |
| X:23000341:T:C | I95T | 0.870 |
| X:23000370:G:C | A105P | 0.865 |
| X:23000959:T:A | V301D | 0.862 |
| X:23001435:T:C | F460L | 0.852 |
| X:23001437:C:A | F460L | 0.852 |
| X:23001437:C:G | F460L | 0.852 |
| X:23001474:T:C | F473L | 0.851 |
| X:23001476:T:A | F473L | 0.851 |
| X:23001476:T:G | F473L | 0.851 |
| X:23001109:C:A | A351E | 0.849 |
| X:23000343:T:C | F96L | 0.842 |
| X:23000345:T:A | F96L | 0.842 |
| X:23000345:T:G | F96L | 0.842 |
| X:23000648:A:C | R197S | 0.842 |
| X:23000648:A:T | R197S | 0.842 |
| X:23001178:T:A | V374D | 0.835 |
| X:23000335:T:A | V93D | 0.824 |
| X:23000816:G:C | W253C | 0.815 |
| X:23000816:G:T | W253C | 0.815 |
| X:23001259:G:C | R401P | 0.815 |
| X:23000840:T:A | D261E | 0.805 |
dbSNP variants (sampled 300 via entrez): RS1000673073 (X:22999729 C>T), RS1000745471 (X:23001826 A>C,G), RS1001025878 (X:22999924 C>T), RS1001602041 (X:22999712 C>T), RS1002491094 (X:22998143 CAG>C), RS1003026451 (X:23003357 G>T), RS1004776614 (X:22998248 TA>T,TAA,TAAA), RS1005067083 (X:23000751 G>A), RS1006073369 (X:22999098 C>T), RS1006102726 (X:22999704 A>C), RS1006827282 (X:23003814 G>A), RS1007391109 (X:22998322 T>G), RS1007828696 (X:22998598 G>T), RS1007835076 (X:23002199 A>T), RS1008075479 (X:23002523 G>A,C)
Disease associations
OMIM: gene MIM:301079 | disease phenotypes: MIM:300376, MIM:310200
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| autism spectrum disorder | Strong | X-linked |
| male infertility with azoospermia or oligozoospermia due to single gene mutation | Limited | X-linked |
Mondo (6): nephrotic syndrome (MONDO:0005377), primary ovarian failure (MONDO:0005387), Becker muscular dystrophy (MONDO:0010311), Duchenne muscular dystrophy (MONDO:0010679), autism spectrum disorder (MONDO:0005258), (MONDO:0018393)
Orphanet (3): Becker muscular dystrophy (Orphanet:98895), Duchenne muscular dystrophy (Orphanet:98896), NON RARE IN EUROPE: Primary ovarian failure (Orphanet:619)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000824_18 | Erectile dysfunction and prostate cancer treatment | 3.000000e-06 |
| GCST003479_11 | Hair color | 5.000000e-07 |
MeSH disease descriptors (4)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D020388 | Muscular Dystrophy, Duchenne | C05.651.534.500.300; C10.668.491.175.500.300; C16.320.322.562; C16.320.577.300 |
| D009404 | Nephrotic Syndrome | C12.050.351.968.419.630.643; C12.200.777.419.630.643; C12.950.419.630.643 |
| D016649 | Primary Ovarian Insufficiency | C12.050.351.500.056.630.750; C12.100.250.056.630.750; C19.391.630.750 |
| C570377 | Benign Pseudohypertrophic Muscular Dystrophy (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs5925720 | DDX53 | 0.00 | 0 |
CTD chemical–gene interactions
7 total (human), top 7 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| MT19c compound | decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Gemcitabine | affects response to substance | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Carboplatin | affects response to substance | 1 |
| Antirheumatic Agents | increases expression | 1 |
Clinical trials (associated diseases)
597 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00391261 | PHASE4 | COMPLETED | An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications. |
| NCT01028820 | PHASE4 | COMPLETED | FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders |
| NCT01333865 | PHASE4 | COMPLETED | A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders |
| NCT01337700 | PHASE4 | COMPLETED | Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism |
| NCT01695200 | PHASE4 | COMPLETED | Omega-3 Fatty Acids in Autism Spectrum Disorders |
| NCT02096952 | PHASE4 | COMPLETED | Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD |
| NCT02235467 | PHASE4 | COMPLETED | Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism |
| NCT02940574 | PHASE4 | COMPLETED | Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders |
| NCT03333629 | PHASE4 | COMPLETED | Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes |
| NCT03337646 | PHASE4 | COMPLETED | Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism |
| NCT03538431 | PHASE4 | COMPLETED | Improving Driving in Young People With Autism Spectrum Disorders |
| NCT03757585 | PHASE4 | COMPLETED | Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD) |
| NCT04903353 | PHASE4 | COMPLETED | Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole |
| NCT05063656 | PHASE4 | COMPLETED | Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin |
| NCT05146245 | PHASE4 | UNKNOWN | Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT |
| NCT05916339 | PHASE4 | RECRUITING | AWARE: Management of ADHD in Autism Spectrum Disorder |
| NCT05954052 | PHASE4 | TERMINATED | A Study of Glutathione in Children With Autism Spectrum Disorder |
| NCT06853665 | PHASE4 | RECRUITING | The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine |
| NCT07054697 | PHASE4 | COMPLETED | Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder |
| NCT07161804 | PHASE4 | COMPLETED | Pilot RCT Using Homeopathic Medicines in ASD |
| NCT07439042 | PHASE4 | NOT_YET_RECRUITING | Buspirone for Anxiety in Autistic Youth |
| NCT00308321 | PHASE4 | UNKNOWN | Long Term Tapering or Standard Steroids for Nephrotic Syndrome |
| NCT01021540 | PHASE4 | COMPLETED | Prospective Study Evaluating the Effect of Repository Corticotropin in the Treatment of Various Nephrotic Syndromes |
| NCT01028287 | PHASE4 | COMPLETED | Adrenocorticotropic Hormone (ACTH) Treatment of Nephrotic Range Proteinuria in Diabetic Nephropathy (NRDN) |
| NCT01162005 | PHASE4 | COMPLETED | Therapeutic Effect of Tacrolimus on Primary Nephrotic Syndrome in Children |
| NCT01895894 | PHASE4 | COMPLETED | Mycophenolate Mofetil in Pediatric Steroid Dependent Nephrotic Syndrome |
| NCT02238418 | PHASE4 | COMPLETED | Efficacy of Usual Vitamin D Supplementation and Its Impact on Children and Adolescents Calciuria. |
| NCT02382575 | PHASE4 | UNKNOWN | Efficacy and Safety of Rituximab to That of Calcineurin Inhibitors in Children With Steroid Resistant Nephrotic Syndrome |
| NCT02427880 | PHASE4 | COMPLETED | Role of Acetazolamide and Hydrochlorothiazide Followed by Furosemide in Treating Nephrotic Edema |
| NCT03210688 | PHASE4 | COMPLETED | Active Vitamin D And Reduced Dose Prednisolone for Treatment in Minimal Change Nephropathy |
| NCT03347357 | PHASE4 | COMPLETED | Pharmacokinetics of Tacrolimus in Children |
| NCT05696977 | PHASE4 | UNKNOWN | Effect of Obesity on Cyclosporine Blood Trough Level in Nephrotic Syndrome Patients |
| NCT05966818 | PHASE4 | UNKNOWN | Effect of Dapagliflozin in Non-Diabetic Patients With Nephrotic Syndrome. |
| NCT06026787 | PHASE4 | COMPLETED | Clinical Value of Adding Dapagliflozin in Patients With Nephrotic Syndrome |
| NCT00417066 | PHASE4 | COMPLETED | Flexible GnRH Antagonist vs Flare up GnRH Agonist Protocol in Poor Responders |
| NCT00732693 | PHASE4 | COMPLETED | Evaluation of Physiologic and Standard Sex Steroid Replacement Regimens in Women With Premature Ovarian Failure |
| NCT00837616 | PHASE4 | COMPLETED | Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism |
| NCT01853501 | PHASE4 | UNKNOWN | Effects of ADSC Therapy in Women With POF |
| NCT02783937 | PHASE4 | COMPLETED | Filgrastim for Premature Ovarian Insufficiency |
| NCT03535480 | PHASE4 | UNKNOWN | Autologous Bone Marrow Stem Cell Ovarian Transplantation to Restore Ovarian Function in Premature Ovarian Failure |
Related Atlas pages
- Associated diseases: autism spectrum disorder
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Becker muscular dystrophy, Duchenne muscular dystrophy, erectile dysfunction, nephrotic syndrome