DDX28
gene geneOn this page
Also known as MDDX28FLJ11282
Summary
DDX28 (DEAD-box helicase 28, HGNC:17330) is a protein-coding gene on chromosome 16q22.1, encoding Probable ATP-dependent RNA helicase DDX28 (Q9NUL7). Plays an essential role in facilitating the proper assembly of the mitochondrial large ribosomal subunit and its helicase activity is essential for this function. It is a selective cancer dependency (DepMap: 22.6% of cell lines).
DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene is intronless. It encodes an RNA-dependent ATPase. The encoded protein is localized in the mitochondria and the nucleus, and can be transported between the mitochondria and the nucleus.
Source: NCBI Gene 55794 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 74 total
- Cancer dependency (DepMap): dependent in 22.6% of screened cell lines
- MANE Select transcript:
NM_018380
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17330 |
| Approved symbol | DDX28 |
| Name | DEAD-box helicase 28 |
| Location | 16q22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MDDX28, FLJ11282 |
| Ensembl gene | ENSG00000182810 |
| Ensembl biotype | protein_coding |
| OMIM | 607618 |
| Entrez | 55794 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000332395
RefSeq mRNA: 1 — MANE Select: NM_018380
NM_018380
CCDS: CCDS10858
Canonical transcript exons
ENST00000332395 — 1 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001300672 | 68020916 | 68023232 |
Expression profiles
Bgee: expression breadth ubiquitous, 248 present calls, max score 93.57.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.7764 / max 52.2658, expressed in 1730 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 157847 | 6.7764 | 1730 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| oocyte | CL:0000023 | 93.57 | gold quality |
| secondary oocyte | CL:0000655 | 91.61 | gold quality |
| endometrium epithelium | UBERON:0004811 | 83.27 | silver quality |
| gastrocnemius | UBERON:0001388 | 82.88 | gold quality |
| granulocyte | CL:0000094 | 82.85 | gold quality |
| monocyte | CL:0000576 | 82.68 | gold quality |
| leukocyte | CL:0000738 | 82.68 | gold quality |
| mononuclear cell | CL:0000842 | 82.62 | gold quality |
| muscle of leg | UBERON:0001383 | 81.77 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 81.62 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 81.50 | gold quality |
| right adrenal gland | UBERON:0001233 | 80.98 | gold quality |
| left adrenal gland | UBERON:0001234 | 80.11 | gold quality |
| apex of heart | UBERON:0002098 | 79.73 | gold quality |
| gingival epithelium | UBERON:0001949 | 79.69 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 79.65 | gold quality |
| muscle organ | UBERON:0001630 | 79.41 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 79.18 | gold quality |
| amniotic fluid | UBERON:0000173 | 79.02 | gold quality |
| adrenal cortex | UBERON:0001235 | 78.28 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 78.21 | gold quality |
| adrenal gland | UBERON:0002369 | 77.91 | gold quality |
| heart left ventricle | UBERON:0002084 | 77.90 | gold quality |
| gingiva | UBERON:0001828 | 77.48 | gold quality |
| cardiac ventricle | UBERON:0002082 | 77.46 | gold quality |
| blood | UBERON:0000178 | 77.40 | gold quality |
| placenta | UBERON:0001987 | 76.78 | gold quality |
| skin of abdomen | UBERON:0001416 | 76.68 | gold quality |
| skin of leg | UBERON:0001511 | 76.58 | gold quality |
| bone marrow | UBERON:0002371 | 76.53 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 2.94 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
18 targeting DDX28, 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-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-944 | 99.82 | 70.85 | 3042 |
| HSA-MIR-4729 | 99.69 | 72.18 | 4233 |
| HSA-MIR-7161-5P | 99.68 | 68.92 | 1592 |
| HSA-MIR-548U | 99.65 | 67.78 | 1463 |
| HSA-MIR-942-5P | 99.41 | 68.40 | 1977 |
| HSA-MIR-520E-5P | 99.27 | 68.90 | 1513 |
| HSA-MIR-3691-3P | 97.90 | 65.97 | 791 |
| HSA-MIR-7112-3P | 97.67 | 68.77 | 948 |
| HSA-MIR-431-5P | 96.16 | 66.50 | 652 |
| HSA-MIR-7108-3P | 94.37 | 64.79 | 183 |
| HSA-MIR-4258 | 90.68 | 62.19 | 164 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 22.6% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 2)
- Three domains in the N-terminal half of the protein and its RNA binding ability were essential for nucleolar localization as well as transcription-inhibition-dependent localization to nuclear subcompartments and two were the nuclear localization signal (PMID:12663657)
- The authors have identified the DEAD box protein family member DDX28 as an interactor and negative regulator of HIF-2alpha that suppresses HIF-2alpha’s ability to activate eIF4E2-directed translation. (PMID:31907278)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ddx28 | ENSDARG00000060411 |
| mus_musculus | Ddx28 | ENSMUSG00000045538 |
| rattus_norvegicus | Ddx28 | ENSRNOG00000019817 |
| drosophila_melanogaster | Dbp21E2 | FBGN0086130 |
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), DDX41 (ENSG00000183258), DDX53 (ENSG00000184735), DDX51 (ENSG00000185163), DDX42 (ENSG00000198231), DDX39B (ENSG00000198563), DDX47 (ENSG00000213782), DDX3X (ENSG00000215301), DDX52 (ENSG00000278053)
Protein
Protein identifiers
Probable ATP-dependent RNA helicase DDX28 — Q9NUL7 (reviewed: Q9NUL7)
Alternative names: Mitochondrial DEAD box protein 28
All UniProt accessions (1): Q9NUL7
UniProt curated annotations — full annotation on UniProt →
Function. Plays an essential role in facilitating the proper assembly of the mitochondrial large ribosomal subunit and its helicase activity is essential for this function. May be involved in RNA processing or transport. Has RNA and Mg(2+)-dependent ATPase activity.
Subunit / interactions. Monomer. Found in a complex with GRSF1, DHX30, FASTKD2 and FASTKD5. Associates with the 16S mitochondrial rRNA (16S mt-rRNA) and with the mitochondrial ribosome large subunit (39S).
Subcellular location. Nucleus. Mitochondrion. Mitochondrion matrix. Mitochondrion nucleoid.
Tissue specificity. Expressed in all tissues tested, including brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, leukocytes, colon, small intestine, ovary and prostate.
Similarity. Belongs to the DEAD box helicase family.
RefSeq proteins (1): NP_060850* (*=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 |
| IPR050079 | DEAD_box_RNA_helicase | Family |
Pfam: PF00270, PF00271
Catalyzed reactions (Rhea), 1 shown:
- ATP + H2O = ADP + phosphate + H(+) (RHEA:13065)
UniProt features (10 total): short sequence motif 5, domain 2, chain 1, binding site 1, sequence variant 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9UU7 | X-RAY DIFFRACTION | 2.6 |
| 7OI6 | ELECTRON MICROSCOPY | 5.7 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NUL7-F1 | 83.49 | 0.48 |
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): 172–179
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 144 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_DN, GOBP_RIBOSOME_BIOGENESIS, chr16q22, GOBP_RIBOSOME_ASSEMBLY, GOBP_RIBOSOMAL_LARGE_SUBUNIT_ASSEMBLY, GOBP_PROTEIN_RNA_COMPLEX_ORGANIZATION, GOBP_ORGANELLE_ASSEMBLY, CREB_Q2_01, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, DELASERNA_MYOD_TARGETS_DN, GOBP_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS, GOBP_RIBOSOMAL_LARGE_SUBUNIT_BIOGENESIS, IVANOVA_HEMATOPOIESIS_EARLY_PROGENITOR, CREBP1CJUN_01, SCHLOSSER_MYC_AND_SERUM_RESPONSE_SYNERGY
GO Biological Process (2): mitochondrial large ribosomal subunit assembly (GO:1902775), ribosome biogenesis (GO:0042254)
GO Molecular Function (9): RNA binding (GO:0003723), RNA helicase activity (GO:0003724), ATP binding (GO:0005524), ATP hydrolysis activity (GO:0016887), rRNA binding (GO:0019843), nucleotide binding (GO:0000166), nucleic acid binding (GO:0003676), helicase activity (GO:0004386), hydrolase activity (GO:0016787)
GO Cellular Component (8): nucleoplasm (GO:0005654), nucleolus (GO:0005730), mitochondrion (GO:0005739), cytosol (GO:0005829), ribonucleoprotein granule (GO:0035770), mitochondrial nucleoid (GO:0042645), nucleus (GO:0005634), mitochondrial matrix (GO:0005759)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| intracellular membraneless organelle | 3 |
| ATP-dependent activity | 2 |
| nuclear lumen | 2 |
| cellular anatomical structure | 2 |
| cytoplasm | 2 |
| intracellular membrane-bounded organelle | 2 |
| mitochondrion | 2 |
| ribosomal large subunit assembly | 1 |
| mitochondrial ribosome assembly | 1 |
| ribonucleoprotein complex biogenesis | 1 |
| nucleic acid binding | 1 |
| helicase activity | 1 |
| ATP-dependent activity, acting on RNA | 1 |
| catalytic activity, acting on RNA | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| RNA binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| binding | 1 |
| nucleic acid conformation isomerase activity | 1 |
| catalytic activity, acting on a nucleic acid | 1 |
| catalytic activity | 1 |
| supramolecular complex | 1 |
| mitochondrial matrix | 1 |
| nucleoid | 1 |
| intracellular organelle lumen | 1 |
Protein interactions and networks
STRING
3451 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DDX28 | MRM3 | Q9HC36 | 802 |
| DDX28 | DHX30 | Q7L2E3 | 792 |
| DDX28 | MTERF3 | Q96E29 | 777 |
| DDX28 | GRSF1 | Q12849 | 758 |
| DDX28 | GTPBP10 | A4D1E9 | 754 |
| DDX28 | ERAL1 | O75616 | 752 |
| DDX28 | MTG1 | Q9BT17 | 740 |
| DDX28 | MALSU1 | Q96EH3 | 731 |
| DDX28 | GTPBP6 | O43824 | 691 |
| DDX28 | MTG2 | Q9H4K7 | 678 |
| DDX28 | FASTKD2 | Q9NYY8 | 671 |
| DDX28 | NSUN4 | Q96CB9 | 669 |
| DDX28 | MTERF4 | Q7Z6M4 | 667 |
| DDX28 | GTPBP8 | Q8N3Z3 | 666 |
| DDX28 | RPUSD3 | Q6P087 | 639 |
IntAct
119 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| YBX1 | HNRNPR | psi-mi:“MI:0915”(physical association) | 0.770 |
| MRPS30 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.640 |
| LIN28A | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.640 |
| DDX28 | PTCD1 | psi-mi:“MI:0914”(association) | 0.530 |
| N | NOP56 | psi-mi:“MI:0914”(association) | 0.530 |
| N | RBM47 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| PSME1 | POLR3A | psi-mi:“MI:0914”(association) | 0.530 |
| CLEC11A | VWA8 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL13 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL18 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNRD2 | MYO9A | psi-mi:“MI:0914”(association) | 0.530 |
| ABT1 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| PNMA2 | CCDC85C | psi-mi:“MI:0914”(association) | 0.530 |
| ZNRD2 | CCDC85C | psi-mi:“MI:0914”(association) | 0.530 |
| NDUFAB1 | MIEF1 | psi-mi:“MI:0915”(physical association) | 0.490 |
| Ybx1 | MRPS18B | psi-mi:“MI:0915”(physical association) | 0.400 |
| Ubr5 | SFI1 | psi-mi:“MI:0914”(association) | 0.350 |
| Ercc6l | RPL17 | psi-mi:“MI:0914”(association) | 0.350 |
| MPHOSPH8 | HCFC1 | psi-mi:“MI:0914”(association) | 0.350 |
| MATR3 | BCLAF3 | psi-mi:“MI:0914”(association) | 0.350 |
| EMC2 | TBL2 | psi-mi:“MI:0914”(association) | 0.350 |
| HSCB | RBP5 | psi-mi:“MI:0914”(association) | 0.350 |
| k8 | RGL2 | psi-mi:“MI:0914”(association) | 0.350 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| CUL3 | PXDNL | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (280): DDX28 (Affinity Capture-MS), DDX28 (Affinity Capture-MS), DDX28 (Affinity Capture-MS), DDX28 (Affinity Capture-MS), DDX28 (Affinity Capture-MS), DDX28 (Affinity Capture-MS), DDX28 (Affinity Capture-MS), DDX28 (Affinity Capture-MS), DDX28 (Affinity Capture-MS), DDX28 (Affinity Capture-MS), DDX28 (Affinity Capture-MS), RPUSD4 (Affinity Capture-MS), METAP2 (Affinity Capture-MS), TRUB2 (Affinity Capture-MS), PTCD1 (Affinity Capture-MS)
ESM2 similar proteins: A0JMH2, A5K3F9, A6XGL0, A8IRK7, B0BNM1, B7QDG3, C3YDS7, D3ZEY4, D3ZU57, E2QRY6, E7FCP8, F6W8I0, F7DL67, F7FIH8, O14976, O88444, P16386, P51828, P52333, P52824, P53370, P70563, Q08828, Q0PIT9, Q17QN2, Q2KI13, Q2KI24, Q3TIU4, Q4R4T6, Q5GA22, Q5RAR6, Q5ZHX9, Q6AXQ5, Q6DHK1, Q6L8Q7, Q6P5E8, Q6QRN6, Q8CH40, Q8K2J9, Q8K4Z3
Diamond homologs: A1CHL3, A1CR32, A1CX72, A1D405, A2QIL2, A2RB17, A2XKG2, A3LQ55, A3LS22, A3LSN3, A4RGD1, A5DLE0, A5DQF1, A5E6W6, A5F3R4, A6QRQ7, A6RW56, A6ZSX1, A6ZT77, A7EML8, A7TK63, A7TS37, B0RWT6, C3LQR1, P0A9P6, P0A9P7, P0A9P8, P0CR00, P0CR01, P25888, P33906, P34580, P38712, P38719, P46942, Q0CIQ3, Q0U6X2, Q0UK12, Q0UWC8, Q1E1N5
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| DDX28 | up-regulates | Stress_granules |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 128 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 |
|---|---|---|---|
| Mitochondrial ribosome-associated quality control | 10 | 15.7× | 3e-07 |
| Mitochondrial translation initiation | 8 | 13.0× | 2e-05 |
| Mitochondrial translation elongation | 8 | 13.0× | 2e-05 |
| Mitochondrial translation | 7 | 12.3× | 9e-05 |
| Mitochondrial translation termination | 8 | 11.3× | 4e-05 |
| rRNA processing | 5 | 9.4× | 9e-03 |
| Translation | 10 | 8.0× | 4e-05 |
| mRNA Polyadenylation | 6 | 6.8× | 1e-02 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitochondrial large ribosomal subunit assembly | 5 | 46.3× | 2e-05 |
| mitochondrial translation | 10 | 16.2× | 4e-07 |
| translation | 8 | 7.7× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
74 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 72 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
62 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:68023171:G:T | donor_gain | 0.9900 |
| 16:68023035:G:GT | donor_gain | 0.9700 |
| 16:68023035:G:T | donor_gain | 0.9700 |
| 16:68023172:A:T | donor_gain | 0.9300 |
| 16:68023171:G:GT | donor_gain | 0.8900 |
| 16:68023170:G:GT | donor_gain | 0.8300 |
| 16:68023125:GACC:G | donor_gain | 0.7200 |
| 16:68023194:T:A | donor_gain | 0.7100 |
| 16:68023111:T:A | donor_gain | 0.7000 |
| 16:68023152:G:GT | donor_gain | 0.6900 |
| 16:68023106:GGG:G | donor_gain | 0.6700 |
| 16:68023107:GGG:G | donor_gain | 0.6700 |
| 16:68023129:G:GG | donor_gain | 0.6600 |
| 16:68023133:G:GT | donor_gain | 0.6600 |
| 16:68023034:G:GT | donor_gain | 0.6500 |
| 16:68023187:GCCGC:G | donor_gain | 0.6400 |
| 16:68023128:C:CG | donor_gain | 0.6300 |
| 16:68023105:AGG:A | donor_gain | 0.6200 |
| 16:68023014:T:TA | donor_gain | 0.6000 |
| 16:68023163:TC:T | donor_gain | 0.5800 |
| 16:68023124:GGACC:G | donor_gain | 0.5700 |
| 16:68023125:GACCG:G | donor_gain | 0.5700 |
| 16:68023134:G:T | donor_gain | 0.5600 |
| 16:68023212:A:AG | donor_gain | 0.5300 |
| 16:68023213:G:GG | donor_gain | 0.5300 |
| 16:68023107:G:GA | donor_gain | 0.4900 |
| 16:68023104:C:T | donor_gain | 0.4700 |
| 16:68023167:G:GT | donor_gain | 0.4700 |
| 16:68023190:GC:G | donor_gain | 0.4500 |
| 16:68023191:C:G | donor_gain | 0.4500 |
AlphaMissense
3414 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:68021700:A:C | S501R | 0.998 |
| 16:68021700:A:T | S501R | 0.998 |
| 16:68021702:T:G | S501R | 0.998 |
| 16:68021994:G:C | F403L | 0.997 |
| 16:68021994:G:T | F403L | 0.997 |
| 16:68021996:A:G | F403L | 0.997 |
| 16:68021752:C:G | R484T | 0.995 |
| 16:68021844:G:C | C453W | 0.995 |
| 16:68021751:T:A | R484S | 0.994 |
| 16:68021751:T:G | R484S | 0.994 |
| 16:68021752:C:A | R484I | 0.994 |
| 16:68021833:G:T | A457D | 0.994 |
| 16:68021756:G:C | H483D | 0.992 |
| 16:68021695:A:T | V503E | 0.991 |
| 16:68021790:A:C | N471K | 0.991 |
| 16:68021790:A:T | N471K | 0.991 |
| 16:68021842:G:A | T454I | 0.991 |
| 16:68022096:A:C | F369L | 0.991 |
| 16:68022096:A:T | F369L | 0.991 |
| 16:68022098:A:G | F369L | 0.991 |
| 16:68022343:T:A | E287V | 0.991 |
| 16:68022914:A:G | W97R | 0.991 |
| 16:68022914:A:T | W97R | 0.991 |
| 16:68021845:C:T | C453Y | 0.990 |
| 16:68021991:A:C | C404W | 0.990 |
| 16:68022097:A:G | F369S | 0.990 |
| 16:68022689:C:G | A172P | 0.989 |
| 16:68022912:C:A | W97C | 0.988 |
| 16:68022912:C:G | W97C | 0.988 |
| 16:68021668:A:T | V512D | 0.987 |
dbSNP variants (sampled 300 via entrez): RS1001226438 (16:68024708 G>A,C), RS1001294787 (16:68023348 C>T), RS1001410260 (16:68023215 G>A), RS1003636025 (16:68024980 C>T), RS1005554272 (16:68022754 T>C,G), RS1005752688 (16:68025032 A>G), RS1006547812 (16:68023470 A>C,G,T), RS1006892845 (16:68020716 A>AT), RS1007309444 (16:68023969 A>C), RS1007333464 (16:68021175 G>A), RS1008901624 (16:68024564 CTT>C,CTTT), RS1009315620 (16:68024733 A>C), RS1010178962 (16:68024350 C>G,T), RS1013985028 (16:68022117 C>T), RS1014198314 (16:68020587 T>A)
Disease associations
OMIM: gene MIM:607618 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002539_84 | Schizophrenia | 2.000000e-08 |
| GCST006803_42 | Schizophrenia | 4.000000e-08 |
| GCST010002_113 | Refractive error | 2.000000e-14 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
30 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| GSK-J4 | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| ferrous chloride | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 2,3,5-(triglutathion-S-yl)hydroquinone | increases ADP-ribosylation | 1 |
| cylindrospermopsin | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| abrine | increases expression | 1 |
| teriflunomide | decreases expression | 1 |
| Decitabine | affects expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Cisplatin | affects expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Methotrexate | decreases expression | 1 |
| Nickel | increases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Silver | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Dronabinol | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Urethane | decreases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Antirheumatic Agents | decreases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.