DTX3
gene geneOn this page
Also known as FLJ34766RNF154
Summary
DTX3 (deltex E3 ubiquitin ligase 3, HGNC:24457) is a protein-coding gene on chromosome 12q13.3, encoding E3 ubiquitin-protein ligase DTX3 (Q8N9I9). Functions as an ubiquitin ligase protein, and regulates Notch signaling.
DTX3 functions as an E3 ubiquitin ligase (Takeyama et al., 2003 [PubMed 12670957]).
Source: NCBI Gene 196403 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 39 total
- MANE Select transcript:
NM_178502
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24457 |
| Approved symbol | DTX3 |
| Name | deltex E3 ubiquitin ligase 3 |
| Location | 12q13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ34766, RNF154 |
| Ensembl gene | ENSG00000178498 |
| Ensembl biotype | protein_coding |
| OMIM | 613142 |
| Entrez | 196403 |
Gene structure
Transcript identifiers
Ensembl transcripts: 31 — 31 protein_coding
ENST00000337737, ENST00000548198, ENST00000548478, ENST00000548804, ENST00000549583, ENST00000550300, ENST00000550596, ENST00000551632, ENST00000551835, ENST00000884287, ENST00000884288, ENST00000884289, ENST00000884290, ENST00000884291, ENST00000884292, ENST00000884293, ENST00000884294, ENST00000884295, ENST00000884296, ENST00000884297, ENST00000939591, ENST00000939592, ENST00000939593, ENST00000939594, ENST00000939595, ENST00000939596, ENST00000939597, ENST00000939598, ENST00000946644, ENST00000946645, ENST00000946646
RefSeq mRNA: 3 — MANE Select: NM_178502
NM_001286245, NM_001286246, NM_178502
CCDS: CCDS41800, CCDS66410
Canonical transcript exons
ENST00000337737 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001261570 | 57608520 | 57608737 |
| ENSE00001354875 | 57606865 | 57607613 |
| ENSE00001388355 | 57605571 | 57605731 |
| ENSE00001531534 | 57606190 | 57606252 |
| ENSE00001531538 | 57604824 | 57604858 |
| ENSE00003536365 | 57606443 | 57606518 |
| ENSE00003846520 | 57609077 | 57609802 |
Expression profiles
Bgee: expression breadth ubiquitous, 241 present calls, max score 98.75.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.5535 / max 172.2434, expressed in 1494 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 126286 | 12.6630 | 1488 |
| 126284 | 0.8414 | 497 |
| 126283 | 0.5246 | 293 |
| 126285 | 0.4460 | 267 |
| 126287 | 0.0784 | 29 |
Top tissues by expression
283 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right hemisphere of cerebellum | UBERON:0014890 | 98.75 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 98.63 | gold quality |
| cerebellar cortex | UBERON:0002129 | 98.58 | gold quality |
| adenohypophysis | UBERON:0002196 | 97.99 | gold quality |
| right frontal lobe | UBERON:0002810 | 97.89 | gold quality |
| cerebellum | UBERON:0002037 | 97.86 | gold quality |
| pituitary gland | UBERON:0000007 | 97.80 | gold quality |
| cortical plate | UBERON:0005343 | 97.55 | gold quality |
| right uterine tube | UBERON:0001302 | 97.49 | gold quality |
| endothelial cell | CL:0000115 | 97.39 | gold quality |
| left ovary | UBERON:0002119 | 97.30 | gold quality |
| body of uterus | UBERON:0009853 | 97.26 | gold quality |
| right ovary | UBERON:0002118 | 97.19 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 97.09 | gold quality |
| cingulate cortex | UBERON:0003027 | 97.05 | gold quality |
| nucleus accumbens | UBERON:0001882 | 96.93 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 96.93 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 96.85 | gold quality |
| lower esophagus | UBERON:0013473 | 96.83 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 96.78 | gold quality |
| caudate nucleus | UBERON:0001873 | 96.75 | gold quality |
| ganglionic eminence | UBERON:0004023 | 96.65 | gold quality |
| endocervix | UBERON:0000458 | 96.61 | gold quality |
| apex of heart | UBERON:0002098 | 96.61 | gold quality |
| amygdala | UBERON:0001876 | 96.40 | gold quality |
| left uterine tube | UBERON:0001303 | 96.32 | gold quality |
| mucosa of stomach | UBERON:0001199 | 96.29 | gold quality |
| primary visual cortex | UBERON:0002436 | 95.93 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 95.89 | gold quality |
| right coronary artery | UBERON:0001625 | 95.84 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.19 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
41 targeting DTX3, 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-4525 | 99.94 | 64.38 | 675 |
| HSA-MIR-5010-5P | 99.94 | 64.11 | 705 |
| HSA-MIR-6768-5P | 99.92 | 67.36 | 1942 |
| HSA-MIR-3151-5P | 99.86 | 63.83 | 1069 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-3180-5P | 99.82 | 69.12 | 2422 |
| HSA-MIR-8080 | 99.82 | 67.52 | 1342 |
| HSA-MIR-448 | 99.79 | 72.37 | 2103 |
| HSA-MIR-4306 | 99.72 | 70.50 | 3630 |
| HSA-MIR-4499 | 99.62 | 67.29 | 1470 |
| HSA-MIR-4472 | 99.56 | 66.08 | 1478 |
| HSA-MIR-486-3P | 99.51 | 66.82 | 1901 |
| HSA-MIR-1207-5P | 99.49 | 69.11 | 2983 |
| HSA-MIR-6081 | 99.48 | 66.07 | 1446 |
| HSA-MIR-1275 | 99.47 | 67.90 | 2749 |
| HSA-MIR-6722-3P | 99.45 | 67.62 | 1919 |
| HSA-MIR-185-5P | 99.35 | 68.60 | 2497 |
| HSA-MIR-4644 | 99.35 | 69.12 | 2514 |
| HSA-MIR-491-5P | 99.13 | 65.98 | 1468 |
| HSA-MIR-328-5P | 99.08 | 64.65 | 1000 |
| HSA-MIR-6868-5P | 99.06 | 65.69 | 1284 |
| HSA-MIR-1909-3P | 99.03 | 66.56 | 1662 |
| HSA-MIR-6885-5P | 98.71 | 64.33 | 902 |
| HSA-MIR-6878-5P | 98.49 | 67.91 | 2142 |
| HSA-MIR-6511A-5P | 98.13 | 67.47 | 1770 |
| HSA-MIR-4665-5P | 97.91 | 67.69 | 1536 |
| HSA-MIR-4329 | 97.68 | 66.26 | 1003 |
| HSA-MIR-6892-5P | 97.27 | 68.60 | 847 |
| HSA-MIR-602 | 97.09 | 61.68 | 156 |
| HSA-MIR-4690-3P | 97.02 | 64.72 | 981 |
Literature-anchored findings (GeneRIF, showing 5)
- It is reported that BBAP and the human family of DTX proteins (DTX1, DTX2, and DTX3) function as E3 ligases based on their capacity for self-ubiquitination. (PMID:12670957)
- We show here that both molecules (Deltex (DTX) and AIP4) interact and partially colocalize to endocytic vesicles, and that AIP4 targets DTX for lysosomal degradation. (PMID:17028573)
- DTX3, a novel E3 ligase for NOTCH2 was identified, and promoted its ubiquitination and degradation. DTX3 overexpression suppressed the proliferation and tumorigenicity of human oesophageal carcinoma cells. The analysis of tissue samples from patients revealed that the expression of DTX3 was low in esophageal cancer cells. (PMID:31854042)
- DTX3 copy number increase in breast cancer: a study of associations to molecular subtype, proliferation and prognosis. (PMID:33616774)
- Silencing DTX3L Inhibits the Progression of Cervical Carcinoma by Regulating PI3K/AKT/mTOR Signaling Pathway. (PMID:36614304)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | dtx3 | ENSDARG00000025766 |
| mus_musculus | Dtx3 | ENSMUSG00000040415 |
| rattus_norvegicus | Dtx3 | ENSRNOG00000005129 |
Paralogs (4): DTX2 (ENSG00000091073), DTX4 (ENSG00000110042), DTX1 (ENSG00000135144), DTX3L (ENSG00000163840)
Protein
Protein identifiers
E3 ubiquitin-protein ligase DTX3 — Q8N9I9 (reviewed: Q8N9I9)
Alternative names: Protein deltex-3, RING finger protein 154, RING-type E3 ubiquitin transferase DTX3
All UniProt accessions (6): A0A0C4DGI8, A0A1Y8EH36, Q8N9I9, F8VUZ4, F8VV96, H0YHF9
UniProt curated annotations — full annotation on UniProt →
Function. Functions as an ubiquitin ligase protein, and regulates Notch signaling. By promoting the ubiquitination and subsequent degradation of target proteins, it can block activation of the Notch signaling pathway, potentially acting as a tumor suppressor in human cancers. Involved in the angiogenic EPHB4 kinase degradation in cancer cell.
Subunit / interactions. Homodimer. May form a heterodimers with other members of the Deltex family. Interacts with NOTCH1.
Subcellular location. Cytoplasm. Nucleus.
Pathway. Protein modification; protein ubiquitination.
Similarity. Belongs to the Deltex family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8N9I9-1 | 1, DTX3A | yes |
| Q8N9I9-2 | 2, DTX3B | |
| Q8N9I9-3 | 3, DTX3C |
RefSeq proteins (3): NP_001273174, NP_001273175, NP_848597* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001841 | Znf_RING | Domain |
| IPR013083 | Znf_RING/FYVE/PHD | Homologous_superfamily |
| IPR017907 | Znf_RING_CS | Conserved_site |
| IPR039396 | Deltex_C | Domain |
| IPR039398 | Deltex_fam | Family |
| IPR039399 | Deltex_C_sf | Homologous_superfamily |
Pfam: PF13923, PF18102
UniProt features (6 total): splice variant 2, chain 1, zinc finger region 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N9I9-F1 | 83.28 | 0.55 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 95 (showing top):
GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, CAGCTG_AP4_Q5, MARTINEZ_RB1_TARGETS_DN, DOANE_RESPONSE_TO_ANDROGEN_DN, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_REGULATION_OF_NOTCH_SIGNALING_PATHWAY, AFP1_Q6, RYTTCCTG_ETS2_B, CCCNNGGGAR_OLF1_01, MARTINEZ_RB1_AND_TP53_TARGETS_UP, AP2GAMMA_01, TGGAAA_NFAT_Q4_01, GOMF_ACYLTRANSFERASE_ACTIVITY, GOMF_AMINOACYLTRANSFERASE_ACTIVITY
GO Biological Process (3): Notch signaling pathway (GO:0007219), regulation of Notch signaling pathway (GO:0008593), protein ubiquitination (GO:0016567)
GO Molecular Function (5): zinc ion binding (GO:0008270), ubiquitin protein ligase activity (GO:0061630), protein binding (GO:0005515), transferase activity (GO:0016740), metal ion binding (GO:0046872)
GO Cellular Component (3): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| cell surface receptor signaling pathway | 1 |
| Notch signaling pathway | 1 |
| regulation of signal transduction | 1 |
| protein modification by small protein conjugation | 1 |
| transition metal ion binding | 1 |
| ubiquitin-protein transferase activity | 1 |
| ubiquitin-like protein ligase activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
496 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DTX3 | PARP9 | Q8IXQ6 | 837 |
| DTX3 | ANK2 | Q01484 | 652 |
| DTX3 | ANK3 | Q12955 | 639 |
| DTX3 | ANK1 | P16157 | 636 |
| DTX3 | DVL3 | Q92997 | 559 |
| DTX3 | UBE2D1 | P51668 | 547 |
| DTX3 | AMBRA1 | Q9C0C7 | 406 |
| DTX3 | CIRSR | Q86X95 | 400 |
| DTX3 | METTL6 | Q8TCB7 | 396 |
| DTX3 | DCAF13 | Q9NV06 | 378 |
| DTX3 | MRPS23 | Q9Y3D9 | 377 |
| DTX3 | LFNG | Q8NES3 | 376 |
| DTX3 | C22orf15 | Q8WYQ4 | 369 |
| DTX3 | NOTCH4 | Q99466 | 358 |
| DTX3 | SYAP1 | Q96A49 | 355 |
IntAct
121 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| UBE2K | DTX3 | psi-mi:“MI:0915”(physical association) | 0.720 |
| DTX3 | UBE2K | psi-mi:“MI:0915”(physical association) | 0.720 |
| DTX3 | UBE2D1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| UBE2D3 | DTX3 | psi-mi:“MI:0915”(physical association) | 0.670 |
| DTX3 | UBE2L6 | psi-mi:“MI:0915”(physical association) | 0.670 |
| UBE2D4 | DTX3 | psi-mi:“MI:0915”(physical association) | 0.670 |
| UBE2D1 | DTX3 | psi-mi:“MI:0915”(physical association) | 0.670 |
| DTX3 | TRAF4 | psi-mi:“MI:0915”(physical association) | 0.670 |
| UBE2L6 | DTX3 | psi-mi:“MI:0915”(physical association) | 0.670 |
| DTX3 | UBE2D4 | psi-mi:“MI:0915”(physical association) | 0.670 |
| TRAF4 | DTX3 | psi-mi:“MI:0915”(physical association) | 0.670 |
| FYN | DTX3 | psi-mi:“MI:0915”(physical association) | 0.600 |
| DTX3 | FYN | psi-mi:“MI:0915”(physical association) | 0.600 |
| UBASH3B | DTX3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRIP10 | DTX3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DTX3 | ZMYND19 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DTX3 | PARP11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PTK6 | DTX3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| UBASH3A | DTX3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DTX3 | NFKBID | psi-mi:“MI:0915”(physical association) | 0.560 |
| BAG3 | DTX3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EPM2AIP1 | DTX3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FAM90A1 | DTX3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| YES1 | DTX3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DTX3 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| NCK2 | DTX3 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (151): DTX3 (Two-hybrid), DTX3 (Two-hybrid), FARSB (Affinity Capture-MS), NARFL (Affinity Capture-MS), NDUFAF5 (Affinity Capture-MS), CHFR (Affinity Capture-MS), ITSN1 (Affinity Capture-MS), MAPK9 (Affinity Capture-MS), NMD3 (Affinity Capture-MS), NDUFS6 (Affinity Capture-MS), RNF114 (Affinity Capture-MS), CHFR (Affinity Capture-MS), NARFL (Affinity Capture-MS), NMD3 (Affinity Capture-MS), ITSN1 (Affinity Capture-MS)
ESM2 similar proteins: A1L1K1, A2ARM1, A2AVJ5, A4IFC9, A7E305, G5EGQ2, O08653, O36006, O43435, O46080, O95343, P13481, P28702, P28704, P56423, P56424, P56645, P61260, P97499, Q02556, Q07820, Q2NL16, Q32N92, Q5E9R0, Q5REG4, Q5SQI0, Q5TJF7, Q5U2W6, Q5U2Y1, Q61010, Q62233, Q6MZQ0, Q80V91, Q86Y01, Q86YD1, Q8AW93, Q8BIG4, Q8HYS5, Q8N9I9, Q91VU8
Diamond homologs: Q23985, Q3UIR3, Q5REG4, Q61010, Q80V91, Q86UW9, Q86Y01, Q8N9I9, Q8R3P2, Q8TDB6, Q6PDK8, Q8AW93, Q9Y2E6, Q07G17, Q2KJ29, Q3KNV8, Q80Z37, Q8BTQ0, Q9NS56, B4F6W9, F1LP64, G5E870, Q13670, F4KGU4, Q2EMV9, Q9NS91, Q9QXK2
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| Ub:E2 | “up-regulates activity” | DTX3 | ubiquitination |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 49 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 |
|---|---|---|---|
| Synthesis of active ubiquitin: roles of E1 and E2 enzymes | 8 | 86.7× | 6e-12 |
| Negative regulators of DDX58/IFIH1 signaling | 5 | 48.0× | 4e-06 |
| Regulation of TNFR1 signaling | 6 | 39.5× | 8e-07 |
| E3 ubiquitin ligases ubiquitinate target proteins | 5 | 28.5× | 4e-05 |
| Antigen processing: Ubiquitination & Proteasome degradation | 13 | 14.2× | 3e-10 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| protein K11-linked ubiquitination | 7 | 61.0× | 2e-09 |
| protein monoubiquitination | 5 | 38.2× | 1e-05 |
| protein K48-linked ubiquitination | 9 | 33.7× | 8e-10 |
| protein K63-linked ubiquitination | 5 | 29.7× | 3e-05 |
| protein modification process | 5 | 27.1× | 5e-05 |
| protein polyubiquitination | 10 | 25.6× | 8e-10 |
| ubiquitin-dependent protein catabolic process | 9 | 14.8× | 6e-07 |
| protein ubiquitination | 7 | 6.4× | 3e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
39 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 34 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1305 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:57604856:GAG:G | donor_gain | 1.0000 |
| 12:57604858:GGTA:G | donor_loss | 1.0000 |
| 12:57606519:G:GG | donor_gain | 1.0000 |
| 12:57607586:G:GG | donor_gain | 1.0000 |
| 12:57607610:GGGG:G | donor_gain | 1.0000 |
| 12:57607611:GGG:G | donor_gain | 1.0000 |
| 12:57607611:GGGG:G | donor_gain | 1.0000 |
| 12:57607612:GGG:G | donor_gain | 1.0000 |
| 12:57608671:G:GT | donor_gain | 1.0000 |
| 12:57608717:C:G | donor_gain | 1.0000 |
| 12:57608725:G:GT | donor_gain | 1.0000 |
| 12:57608735:GCT:G | donor_gain | 1.0000 |
| 12:57608736:C:G | donor_gain | 1.0000 |
| 12:57608738:G:GG | donor_gain | 1.0000 |
| 12:57604854:GAGAG:G | donor_gain | 0.9900 |
| 12:57604859:G:GG | donor_gain | 0.9900 |
| 12:57606107:G:GT | donor_gain | 0.9900 |
| 12:57606112:G:GT | donor_gain | 0.9900 |
| 12:57606112:G:T | donor_gain | 0.9900 |
| 12:57606188:A:AG | acceptor_gain | 0.9900 |
| 12:57606189:G:GA | acceptor_gain | 0.9900 |
| 12:57606189:GTCCT:G | acceptor_gain | 0.9900 |
| 12:57606432:C:A | acceptor_gain | 0.9900 |
| 12:57606441:A:AG | acceptor_gain | 0.9900 |
| 12:57606441:A:G | acceptor_loss | 0.9900 |
| 12:57606442:G:GG | acceptor_gain | 0.9900 |
| 12:57606515:CAAAG:C | donor_loss | 0.9900 |
| 12:57606517:AA:A | donor_gain | 0.9900 |
| 12:57606517:AAGT:A | donor_loss | 0.9900 |
| 12:57606518:AGTAA:A | donor_loss | 0.9900 |
AlphaMissense
2212 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:57607353:T:C | C164R | 1.000 |
| 12:57607355:C:G | C164W | 1.000 |
| 12:57607362:T:A | C167S | 1.000 |
| 12:57607362:T:C | C167R | 1.000 |
| 12:57607363:G:C | C167S | 1.000 |
| 12:57607401:T:A | C180S | 1.000 |
| 12:57607401:T:C | C180R | 1.000 |
| 12:57607402:G:C | C180S | 1.000 |
| 12:57607413:T:C | F184L | 1.000 |
| 12:57607414:T:C | F184S | 1.000 |
| 12:57607415:C:A | F184L | 1.000 |
| 12:57607415:C:G | F184L | 1.000 |
| 12:57607416:T:C | C185R | 1.000 |
| 12:57607425:T:A | C188S | 1.000 |
| 12:57607425:T:C | C188R | 1.000 |
| 12:57607426:G:C | C188S | 1.000 |
| 12:57607458:T:A | C199S | 1.000 |
| 12:57607458:T:C | C199R | 1.000 |
| 12:57607459:G:A | C199Y | 1.000 |
| 12:57607459:G:C | C199S | 1.000 |
| 12:57607467:T:A | C202S | 1.000 |
| 12:57607467:T:C | C202R | 1.000 |
| 12:57607468:G:C | C202S | 1.000 |
| 12:57607495:G:T | G211V | 1.000 |
| 12:57607582:T:A | I240N | 1.000 |
| 12:57607587:T:C | Y242H | 1.000 |
| 12:57607610:G:C | Q249H | 1.000 |
| 12:57607610:G:T | Q249H | 1.000 |
| 12:57608547:T:G | Y260D | 1.000 |
| 12:57608563:G:C | R265P | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000700275 (12:57607160 G>C,T), RS1001378807 (12:57610282 G>A), RS1001638897 (12:57603538 A>C), RS1001900918 (12:57605200 A>C,G), RS1002192094 (12:57606510 A>G), RS1002931301 (12:57603463 T>C), RS1003193296 (12:57605082 C>T), RS1003268092 (12:57604892 G>A), RS1003970140 (12:57606687 A>G), RS1004226437 (12:57606155 G>A), RS1004503996 (12:57607750 T>G), RS1004802818 (12:57609660 T>C,G), RS1004979544 (12:57604104 ACAC>A,ACACCAC), RS1006708007 (12:57604233 G>C), RS1007170108 (12:57604533 G>C)
Disease associations
OMIM: gene MIM:613142 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
31 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression | 4 |
| sodium arsenite | decreases expression, increases expression | 2 |
| (+)-JQ1 compound | decreases expression | 2 |
| nickel sulfate | decreases expression | 1 |
| methacrylaldehyde | affects cotreatment, decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| enzalutamide | affects expression | 1 |
| Temozolomide | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Zoledronic Acid | increases expression | 1 |
| Glyphosate | increases expression | 1 |
| Acrolein | affects cotreatment, decreases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Doxorubicin | affects expression | 1 |
| Estradiol | decreases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Nickel | decreases expression | 1 |
| Ozone | affects cotreatment, decreases expression | 1 |
| Tetrachlorodibenzodioxin | increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Gold Compounds | increases expression | 1 |
| Antirheumatic Agents | increases expression | 1 |
| Cadmium Chloride | increases expression | 1 |
Cellosaurus cell lines
4 cell lines: 3 cancer cell line, 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1QG | Abcam HeLa DTX3 KO | Cancer cell line | Female |
| CVCL_D7NW | Ubigene A-549 DTX3 KO | Cancer cell line | Male |
| CVCL_D9DN | Ubigene HEK293 DTX3 KO | Transformed cell line | Female |
| CVCL_E0BW | Ubigene HeLa DTX3 KO | Cancer cell line | Female |
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.