SAXO6
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Summary
SAXO6 (stabilizer of axonemal microtubules 6, HGNC:29917) is a protein-coding gene on chromosome 12q15, encoding Nuclear protein MDM1 (Q8TC05). Microtubule-binding protein that negatively regulates centriole duplication.
This gene encodes a microtubule-binding nuclear protein that localizes to the centrioles of dividing cells and differentiating multiciliated cells and negatively regulates centriole duplication. The encoded protein is closely associated with the centriole barrel, and resides in the centriole lumen. Naturally-occurring mutations in the orthologous mouse gene are associated with age-related retinal degeneration.
Source: NCBI Gene 56890 — RefSeq curated summary.
At a glance
- Gene–disease (curated): schizophrenia (No Known Disease Relationship, GenCC)
- GWAS associations: 1
- Clinical variants (ClinVar): 134 total — 2 pathogenic, 4 likely-pathogenic
- MANE Select transcript:
NM_001354969
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29917 |
| Approved symbol | SAXO6 |
| Name | stabilizer of axonemal microtubules 6 |
| Location | 12q15 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000111554 |
| Ensembl biotype | protein_coding |
| OMIM | 613813 |
| Entrez | 56890 |
Gene structure
Transcript identifiers
Ensembl transcripts: 19 — 10 protein_coding, 5 retained_intron, 2 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined
ENST00000303145, ENST00000357874, ENST00000393543, ENST00000411698, ENST00000430606, ENST00000536313, ENST00000536997, ENST00000538454, ENST00000539972, ENST00000540418, ENST00000540476, ENST00000541087, ENST00000541686, ENST00000545724, ENST00000545964, ENST00000682720, ENST00000890140, ENST00000890141, ENST00000890142
RefSeq mRNA: 11 — MANE Select: NM_001354969
NM_001205028, NM_001205029, NM_001354969, NM_001354970, NM_001354971, NM_001354972, NM_001354973, NM_001354974, NM_001368282, NM_017440, NM_020128
CCDS: CCDS44938, CCDS55841, CCDS55842, CCDS8983, CCDS91723
Canonical transcript exons
ENST00000682720 — 15 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001632753 | 68316581 | 68316610 |
| ENSE00003574601 | 68313443 | 68313552 |
| ENSE00003602757 | 68323073 | 68323240 |
| ENSE00003605420 | 68326657 | 68327021 |
| ENSE00003637228 | 68331107 | 68331221 |
| ENSE00003649782 | 68325441 | 68325575 |
| ENSE00003675578 | 68321525 | 68321628 |
| ENSE00003690855 | 68313644 | 68313753 |
| ENSE00003717084 | 68321347 | 68321446 |
| ENSE00003725461 | 68302620 | 68302872 |
| ENSE00003728211 | 68296923 | 68296982 |
| ENSE00003741375 | 68316078 | 68316253 |
| ENSE00003741481 | 68314948 | 68315265 |
| ENSE00003918116 | 68294566 | 68295366 |
| ENSE00003921615 | 68332228 | 68332362 |
Expression profiles
Bgee: expression breadth ubiquitous, 276 present calls, max score 95.56.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.4014 / max 989.8251, expressed in 1702 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 131968 | 7.3106 | 1631 |
| 131969 | 2.7510 | 1126 |
| 131967 | 0.2787 | 128 |
| 131966 | 0.0611 | 18 |
Top tissues by expression
291 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| bronchial epithelial cell | CL:0002328 | 95.56 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 94.58 | gold quality |
| ventricular zone | UBERON:0003053 | 94.46 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 94.32 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 91.99 | gold quality |
| right uterine tube | UBERON:0001302 | 91.91 | gold quality |
| oocyte | CL:0000023 | 91.16 | gold quality |
| bronchus | UBERON:0002185 | 91.04 | gold quality |
| calcaneal tendon | UBERON:0003701 | 91.00 | gold quality |
| secondary oocyte | CL:0000655 | 90.28 | gold quality |
| sural nerve | UBERON:0015488 | 90.22 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 90.13 | gold quality |
| sigmoid colon | UBERON:0001159 | 89.88 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 89.59 | gold quality |
| nasopharynx | UBERON:0001728 | 89.57 | gold quality |
| body of uterus | UBERON:0009853 | 88.84 | gold quality |
| monocyte | CL:0000576 | 88.42 | gold quality |
| adenohypophysis | UBERON:0002196 | 88.37 | gold quality |
| ganglionic eminence | UBERON:0004023 | 88.03 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 87.89 | gold quality |
| left uterine tube | UBERON:0001303 | 87.84 | gold quality |
| mononuclear cell | CL:0000842 | 87.80 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 87.59 | gold quality |
| leukocyte | CL:0000738 | 87.48 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 87.45 | gold quality |
| lower esophagus | UBERON:0013473 | 87.42 | gold quality |
| pituitary gland | UBERON:0000007 | 87.41 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 86.65 | gold quality |
| seminal vesicle | UBERON:0000998 | 86.30 | gold quality |
| bone marrow cell | CL:0002092 | 86.12 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.27 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
61 targeting SAXO6, 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-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-323A-3P | 99.79 | 70.30 | 1739 |
| HSA-MIR-548AJ-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548G-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548X-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548F-5P | 99.78 | 71.02 | 3093 |
| HSA-MIR-6752-3P | 99.72 | 66.71 | 1587 |
| HSA-MIR-1283 | 99.69 | 72.42 | 3009 |
| HSA-MIR-5700 | 99.64 | 69.88 | 2280 |
| HSA-MIR-5003-5P | 99.61 | 69.13 | 1624 |
| HSA-MIR-7159-3P | 99.51 | 70.17 | 1920 |
| HSA-MIR-3128 | 99.50 | 67.85 | 1258 |
| HSA-MIR-513C-5P | 99.50 | 68.42 | 1730 |
Literature-anchored findings (GeneRIF, showing 2)
- Not associated with age-related retinal degeneration. (PMID:18805803)
- Authorse propose that MDM1 is a negative regulator of centriole duplication and that its function is mediated through microtubule binding. (PMID:26337392)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mdm1 | ENSDARG00000045675 |
| mus_musculus | Mdm1 | ENSMUSG00000020212 |
| rattus_norvegicus | Mdm1 | ENSRNOG00000007286 |
Protein
Protein identifiers
Nuclear protein MDM1 — Q8TC05 (reviewed: Q8TC05)
All UniProt accessions (6): Q8TC05, A0A804HIJ5, F5H529, F5H804, H0Y301, H0YGX6
UniProt curated annotations — full annotation on UniProt →
Function. Microtubule-binding protein that negatively regulates centriole duplication. Binds to and stabilizes microtubules.
Subcellular location. Nucleus. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Centriole.
Similarity. Belongs to the MDM1 family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8TC05-1 | 1 | yes |
| Q8TC05-2 | 2 | |
| Q8TC05-3 | 3 | |
| Q8TC05-4 | 4 |
RefSeq proteins (11): NP_001191957, NP_001191958, NP_001341898, NP_001341899, NP_001341900, NP_001341901, NP_001341902, NP_001341903, NP_001355211, NP_059136, NP_064513 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR029136 | MDM1 | Family |
Pfam: PF15501
UniProt features (38 total): modified residue 9, splice variant 6, compositionally biased region 5, sequence variant 4, mutagenesis site 4, short sequence motif 4, region of interest 3, sequence conflict 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8TC05-F1 | 54.47 | 0.00 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (9): 83, 123, 126, 242, 263, 314, 560, 584, 648
Mutagenesis-validated functional residues (4):
| Position | Phenotype |
|---|---|
| 9–15 | loss of microtubule binding, no loss of centrosomal localization, little effect on microtubule stability, loss of abilit |
| 189–195 | loss of microtubule binding, no loss of centrosomal localization, little effect on microtubule stability, loss of abilit |
| 232–238 | loss of microtubule binding, no loss of centrosomal localization, little effect on microtubule stability, loss of abilit |
| 306–312 | loss of microtubule binding, no loss of centrosomal localization, little effect on microtubule stability, loss of abilit |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 253 (showing top):
BROWNE_HCMV_INFECTION_6HR_DN, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, FISCHER_G1_S_CELL_CYCLE, TTTGTAG_MIR520D, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, AATGGAG_MIR136, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_NEGATIVE_REGULATION_OF_ORGANELLE_ASSEMBLY, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_REGULATION_OF_CENTRIOLE_REPLICATION, GOBP_CENTRIOLE_ASSEMBLY, MODULE_205, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE_PROCESS, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE
GO Biological Process (2): negative regulation of centriole replication (GO:0046600), retina development in camera-type eye (GO:0060041)
GO Molecular Function (2): microtubule binding (GO:0008017), protein binding (GO:0005515)
GO Cellular Component (8): nucleus (GO:0005634), centrosome (GO:0005813), centriole (GO:0005814), cytosol (GO:0005829), microtubule (GO:0005874), centriolar satellite (GO:0034451), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| microtubule organizing center | 2 |
| intracellular membraneless organelle | 2 |
| centriole replication | 1 |
| negative regulation of centrosome duplication | 1 |
| regulation of centriole replication | 1 |
| negative regulation of organelle assembly | 1 |
| camera-type eye development | 1 |
| anatomical structure development | 1 |
| tubulin binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| centriole | 1 |
| cytoplasm | 1 |
| microtubule cytoskeleton | 1 |
| polymeric cytoskeletal fiber | 1 |
| centrosome | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
408 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SAXO6 | SNX14 | Q9Y5W7 | 694 |
| SAXO6 | MYF6 | P23409 | 678 |
| SAXO6 | MDM2 | Q00987 | 647 |
| SAXO6 | SNX13 | Q9Y5W8 | 615 |
| SAXO6 | SNX25 | Q9H3E2 | 614 |
| SAXO6 | ACSL3 | O95573 | 567 |
| SAXO6 | STARD3NL | O95772 | 566 |
| SAXO6 | SNX19 | Q92543 | 545 |
| SAXO6 | CDKN2A | P42771 | 448 |
| SAXO6 | CDK4 | P11802 | 402 |
| SAXO6 | SLC35E3 | Q7Z769 | 383 |
| SAXO6 | IFNG | P01579 | 373 |
| SAXO6 | FILIP1L | Q4L180 | 368 |
| SAXO6 | BSCL2 | Q96G97 | 355 |
| SAXO6 | SOFU1 | Q96L11 | 350 |
IntAct
18 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MDM1 | POC1A | psi-mi:“MI:0915”(physical association) | 0.590 |
| MDM1 | HOMER3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCDC57 | MDM1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MAGEA4 | MAGEB16 | psi-mi:“MI:0914”(association) | 0.530 |
| Poc1a | SQSTM1 | psi-mi:“MI:0914”(association) | 0.350 |
| CBX4 | psi-mi:“MI:0914”(association) | 0.350 | |
| CDK5RAP2 | SPTBN2 | psi-mi:“MI:0914”(association) | 0.350 |
| CEP63 | CIBAR1 | psi-mi:“MI:0914”(association) | 0.350 |
| S100P | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| HDAC8 | SEC16A | psi-mi:“MI:0914”(association) | 0.350 |
| MDM1 | HOMER3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| MDM1 | CCDC57 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (17): MDM1 (Affinity Capture-MS), MDM1 (Affinity Capture-MS), MDM1 (Reconstituted Complex), MDM1 (Affinity Capture-MS), POC1A (Affinity Capture-MS), MDM1 (Two-hybrid), CCDC57 (Two-hybrid), MDM1 (Affinity Capture-RNA), POC1A (Affinity Capture-MS), MDM1 (Affinity Capture-MS), MDM1 (Affinity Capture-MS), MDM1 (Proximity Label-MS), MDM1 (Proximity Label-MS), MDM1 (Affinity Capture-RNA), MDM1 (Proximity Label-MS)
ESM2 similar proteins: A0A1W2P884, A2RUB6, A7E3D8, A8MT70, B0CM36, B2RYR0, F1PZQ5, O95447, Q0IIM1, Q0P5X1, Q2KHM9, Q2T9X8, Q4KLH6, Q4R3Q7, Q4R6Q9, Q5NVK0, Q5R7F8, Q5RBD6, Q5RBY6, Q5RC32, Q5RD75, Q5SZL2, Q5TB80, Q5TID7, Q5VX52, Q5XI03, Q6A000, Q6NS45, Q6NZK5, Q6ZPR1, Q6ZQ06, Q7Z4H7, Q80VP2, Q80XJ2, Q80ZU5, Q86T90, Q86YF9, Q8BMD2, Q8IYW5, Q8N0Z3
Diamond homologs: Q5PQN4, Q5RC32, Q5RHU7, Q5ZMW6, Q8TC05, Q9D067
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
134 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 4 |
| Uncertain significance | 93 |
| Likely benign | 7 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (6)
| Variant ID | HGVS | Classification |
|---|---|---|
| 4813667 | NM_001354969.2(SAXO6):c.2T>C (p.Met1Thr) | Pathogenic |
| 4813668 | NM_001354969.2(SAXO6):c.1038del (p.Glu348fs) | Pathogenic |
| 4813669 | NM_001354969.2(SAXO6):c.1240A>T (p.Lys414Ter) | Likely pathogenic |
| 4813670 | NM_001354969.2(SAXO6):c.868A>T (p.Lys290Ter) | Likely pathogenic |
| 4813671 | NM_001354969.2(SAXO6):c.1048C>T (p.Arg350Ter) | Likely pathogenic |
| 4813672 | NM_001354969.2(SAXO6):c.1750-1G>C | Likely pathogenic |
SpliceAI
2569 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:68295364:CATCT:C | acceptor_loss | 1.0000 |
| 12:68295366:TC:T | acceptor_loss | 1.0000 |
| 12:68295367:C:CA | acceptor_loss | 1.0000 |
| 12:68295368:T:A | acceptor_loss | 1.0000 |
| 12:68296984:T:C | acceptor_gain | 1.0000 |
| 12:68313438:TTTAC:T | donor_loss | 1.0000 |
| 12:68313439:TTA:T | donor_loss | 1.0000 |
| 12:68313440:TAC:T | donor_loss | 1.0000 |
| 12:68313441:A:C | donor_loss | 1.0000 |
| 12:68313549:CCAC:C | acceptor_gain | 1.0000 |
| 12:68313550:CAC:C | acceptor_gain | 1.0000 |
| 12:68313550:CACC:C | acceptor_gain | 1.0000 |
| 12:68313552:CCTG:C | acceptor_loss | 1.0000 |
| 12:68313553:C:CC | acceptor_gain | 1.0000 |
| 12:68313553:CTG:C | acceptor_loss | 1.0000 |
| 12:68313554:T:A | acceptor_loss | 1.0000 |
| 12:68313647:CAG:C | donor_gain | 1.0000 |
| 12:68314947:CCCTT:C | donor_gain | 1.0000 |
| 12:68314962:ATCTG:A | donor_gain | 1.0000 |
| 12:68315041:T:TA | donor_gain | 1.0000 |
| 12:68321519:ACAT:A | donor_loss | 1.0000 |
| 12:68321520:CAT:C | donor_loss | 1.0000 |
| 12:68321521:ATA:A | donor_loss | 1.0000 |
| 12:68321522:TACC:T | donor_loss | 1.0000 |
| 12:68321523:A:AC | donor_gain | 1.0000 |
| 12:68321523:AC:A | donor_gain | 1.0000 |
| 12:68321524:C:CC | donor_gain | 1.0000 |
| 12:68321524:CC:C | donor_gain | 1.0000 |
| 12:68321527:AAG:A | donor_gain | 1.0000 |
| 12:68321556:T:TA | donor_gain | 1.0000 |
AlphaMissense
4736 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:68316146:C:A | W371C | 0.995 |
| 12:68316146:C:G | W371C | 0.995 |
| 12:68316148:A:G | W371R | 0.994 |
| 12:68316148:A:T | W371R | 0.994 |
| 12:68316194:A:C | F355L | 0.994 |
| 12:68316194:A:T | F355L | 0.994 |
| 12:68316195:A:G | F355S | 0.994 |
| 12:68316196:A:G | F355L | 0.994 |
| 12:68321416:A:C | F312L | 0.994 |
| 12:68321416:A:T | F312L | 0.994 |
| 12:68321418:A:G | F312L | 0.994 |
| 12:68316180:A:G | L360P | 0.992 |
| 12:68321379:A:G | W325R | 0.990 |
| 12:68321379:A:T | W325R | 0.990 |
| 12:68316232:C:G | A343P | 0.989 |
| 12:68302630:A:C | F654L | 0.986 |
| 12:68302630:A:T | F654L | 0.986 |
| 12:68302632:A:G | F654L | 0.986 |
| 12:68313675:C:A | R526S | 0.986 |
| 12:68313675:C:G | R526S | 0.986 |
| 12:68316243:A:G | L339P | 0.986 |
| 12:68313540:A:G | L541S | 0.985 |
| 12:68325489:A:C | F195L | 0.985 |
| 12:68325489:A:T | F195L | 0.985 |
| 12:68325491:A:G | F195L | 0.985 |
| 12:68316240:C:G | R340P | 0.984 |
| 12:68313543:A:T | V540D | 0.983 |
| 12:68331213:A:C | S9R | 0.982 |
| 12:68331213:A:T | S9R | 0.982 |
| 12:68331215:T:G | S9R | 0.982 |
dbSNP variants (sampled 300 via entrez): RS1000044607 (12:68303994 T>A,C), RS1000072076 (12:68311142 C>T), RS1000111893 (12:68305439 G>A), RS1000144359 (12:68305141 C>T), RS1000326555 (12:68312079 C>T), RS1000330718 (12:68318609 A>T), RS1000366255 (12:68298763 C>G,T), RS1000448538 (12:68331046 G>A), RS1000559468 (12:68325030 T>A,C), RS1000652492 (12:68310762 C>T), RS1000734277 (12:68299111 G>A,C), RS1000736385 (12:68332326 C>A,G,T), RS1000973046 (12:68300035 G>A), RS1001046013 (12:68305355 A>G,T), RS1001107350 (12:68307070 T>A)
Disease associations
OMIM: gene MIM:613813 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| schizophrenia | No Known Disease Relationship | Unknown |
Mondo (3): retinal disorder (MONDO:0005283), neurodevelopmental disorder (MONDO:0700092), schizophrenia (MONDO:0005090)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001419_1 | Temperament (bipolar disorder) | 4.000000e-08 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004365 | personality trait |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D065886 | Neurodevelopmental Disorders | F03.625 |
| D012164 | Retinal Diseases | C11.768 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
49 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | increases expression, affects expression, affects cotreatment, decreases methylation | 3 |
| Air Pollutants | decreases expression, increases abundance, increases expression | 2 |
| Valproic Acid | increases expression | 2 |
| Cyclosporine | decreases expression, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| dicrotophos | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| potassium perchlorate | decreases expression | 1 |
| trichostatin A | decreases expression | 1 |
| sodium arsenite | affects cotreatment, decreases expression, increases abundance | 1 |
| butyraldehyde | decreases expression | 1 |
| manganese chloride | decreases expression, increases abundance, affects cotreatment | 1 |
| pentanal | decreases expression | 1 |
| tamibarotene | decreases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| NSC 689534 | affects binding, decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Arsenic | decreases expression, increases abundance, affects cotreatment | 1 |
| Azathioprine | decreases expression | 1 |
| Calcitriol | increases expression | 1 |
| Cisplatin | increases expression | 1 |
| Copper | affects binding, decreases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Folic Acid | decreases expression | 1 |
Clinical trials (associated diseases)
529 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00000374 | PHASE4 | COMPLETED | Treatment for First-Episode Schizophrenia |
| NCT00001656 | PHASE4 | COMPLETED | Comparison of Clozapine vs Olanzapine in Childhood-Onset Psychotic Disorders |
| NCT00007774 | PHASE4 | COMPLETED | To Determine if Olanzapine is More Cost Effective Than Haloperidol for the Treatment of Schizophrenia |
| NCT00014001 | PHASE4 | COMPLETED | CATIE- Schizophrenia Trial |
| NCT00018668 | PHASE4 | COMPLETED | Antipsychotic Response in Schizophrenia |
| NCT00034801 | PHASE4 | COMPLETED | Olanzapine Versus Active Comparator in the Treatment of Depression in Patients With Schizophrenia |
| NCT00034905 | PHASE4 | COMPLETED | A Comparison of Seroquel vs. Risperidone in Schizophrenia |
| NCT00036088 | PHASE4 | COMPLETED | Olanzapine Versus An Active Comparator in the Treatment of Schizophrenia |
| NCT00044187 | PHASE4 | COMPLETED | The Assessment of a Weight-Gain Agent for the Treatment of Olanzapine-Associated Anti-Obesity Agent in Patients With Schizophrenia, Schizophreniform Disorder, Schizoaffective Disorder, and Bipolar I Disorder |
| NCT00044655 | PHASE4 | COMPLETED | Switching Medication to Treat Schizophrenia |
| NCT00048828 | PHASE4 | COMPLETED | Treating Drug-Resistant Childhood Schizophrenia |
| NCT00053703 | PHASE4 | COMPLETED | Treatment of Early Onset Schizophrenia Spectrum Disorders (TEOSS) |
| NCT00056498 | PHASE4 | COMPLETED | Risperidone Treatment in Schizophrenia Patients Who Are Currently Taking Clozapine |
| NCT00061802 | PHASE4 | COMPLETED | Efficacy and Safety of Two Atypical Antipsychotics vs. Placebo in Patients With an Acute Exacerbation of Either Schizophrenia or Schizoaffective Disorder |
| NCT00080327 | PHASE4 | COMPLETED | Study of Three Doses of Aripiprazole in Patients With Acute Schizophrenia |
| NCT00088049 | PHASE4 | COMPLETED | Study of Olanzapine vs. Aripiprazole in the Treatment of Schizophrenia |
| NCT00090012 | PHASE4 | COMPLETED | Comparison of Continuing Olanzapine to Switching to Quetiapine in Overweight or Obese Patients With Schizophrenia and Schizoaffective Disorder |
| NCT00100776 | PHASE4 | COMPLETED | Efficacy of High Dose Olanzapine for the Treatment of Schizophrenia and Schizoaffective Disorder |
| NCT00103571 | PHASE4 | COMPLETED | Olanzapine Versus Aripiprazole in the Treatment of Acutely Ill Patients With Schizophrenia |
| NCT00108368 | PHASE4 | COMPLETED | The Effects of Risperidone and Olanzapine on Thinking |
| NCT00114595 | PHASE4 | COMPLETED | Ethyl-Eicosapentaenoic Acid and Tardive Dyskinesia |
| NCT00130923 | PHASE4 | COMPLETED | Risperidone Long-acting Versus Oral Risperidone in Patients With Schizophrenia and Alcohol Use Disorder |
| NCT00137020 | PHASE4 | COMPLETED | Clinical Effect Of Cross Titration Of Antipsychotics With Ziprasidone In Schizophrenia Or Schizoaffective Disorder |
| NCT00140166 | PHASE4 | COMPLETED | Treatment of Acute Schizophrenia With Vitamin Therapy |
| NCT00145847 | PHASE4 | COMPLETED | Naltrexone Treatment of Alcohol Abuse in Schizophrenia |
| NCT00148564 | PHASE4 | COMPLETED | Energy Homeostasis Under Treatment With Atypical Antipsychotics |
| NCT00156715 | PHASE4 | COMPLETED | Efficacy of Quetiapine in the Treatment of Patients With Schizophrenia and a Comorbid Substance Use Disorder |
| NCT00158223 | PHASE4 | COMPLETED | Effectiveness of Pimozide in Augmenting the Effects of Clozapine in the Treatment of Schizophrenia |
| NCT00159081 | PHASE4 | COMPLETED | One Year Drug Treatment in First-Episode Schizophrenia |
| NCT00159120 | PHASE4 | COMPLETED | Maintenance Treatment vs. Stepwise Drug Discontinuation in First-Episode Schizophrenia |
| NCT00159133 | PHASE4 | COMPLETED | Prodrome-Based Early Intervention With Antipsychotics vs. Benzodiazepines in First-Episode Schizophrenia |
| NCT00159757 | PHASE4 | TERMINATED | 12 Week Open, Non-Comparative Switch Study Of Oral Ziprazidone In Previously Treated Schizophrenic Patients |
| NCT00167817 | PHASE4 | COMPLETED | Effect of Switch to Aripiprazole on Health and Smoking Parameters in Patients With Schizophrenia: A Pilot Study |
| NCT00169026 | PHASE4 | TERMINATED | Alcoholism and Schizophrenia: Effects of Clozapine |
| NCT00169039 | PHASE4 | TERMINATED | Clozapine Versus Chlorpromazine for Treatment-Unresponsive Schizophrenia |
| NCT00169065 | PHASE4 | COMPLETED | Effectiveness of Clozapine Versus Olanzapine for Treatment-resistant Schizophrenia |
| NCT00169091 | PHASE4 | TERMINATED | Clozapine Versus Haloperidol for Treating the First Episode of Schizophrenia |
| NCT00176423 | PHASE4 | COMPLETED | Efficacy Study of Galantamine for Cognitive Impairments in Schizophrenia |
| NCT00176436 | PHASE4 | COMPLETED | Atomoxetine for Treatment of Weight Gain in Olanzapine or Clozapine Patients |
| NCT00177008 | PHASE4 | COMPLETED | Aripiprazole for the Treatment of Schizophrenia With Co-Morbid Social Anxiety |
Related Atlas pages
- Associated diseases: schizophrenia