USF3
gene geneOn this page
Summary
USF3 (upstream transcription factor family member 3, HGNC:30494) is a protein-coding gene on chromosome 3q13.2, encoding Basic helix-loop-helix domain-containing protein USF3 (Q68DE3). Involved in the negative regulation of epithelial-mesenchymal transition, the process by which epithelial cells lose their polarity and adhesion properties to become mesenchymal cells with enhanced migration and invasive properties.
This gene encodes a large protein that contains a helix-loop-helix domain and a polyglutamine region. A deletion in the polyglutamine region was associated with risk for thyroid carcinoma.
Source: NCBI Gene 205717 — RefSeq curated summary.
At a glance
- Gene–disease (curated): Cowden disease (Supportive, GenCC) — +1 more curated relationship
- GWAS associations: 6
- Clinical variants (ClinVar): 295 total
- Phenotypes (HPO): 57
- MANE Select transcript:
NM_001009899
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30494 |
| Approved symbol | USF3 |
| Name | upstream transcription factor family member 3 |
| Location | 3q13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000176542 |
| Ensembl biotype | protein_coding |
| OMIM | 617568 |
| Entrez | 205717 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 3 protein_coding, 1 retained_intron
ENST00000316407, ENST00000478658, ENST00000491165, ENST00000496826
RefSeq mRNA: 1 — MANE Select: NM_001009899
NM_001009899
CCDS: CCDS43133
Canonical transcript exons
ENST00000316407 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001255501 | 113648385 | 113661425 |
| ENSE00001532131 | 113677282 | 113677397 |
| ENSE00003511411 | 113664313 | 113664409 |
| ENSE00003844447 | 113696370 | 113696642 |
| ENSE00003890030 | 113670121 | 113670203 |
| ENSE00003893718 | 113674832 | 113674896 |
| ENSE00003894946 | 113673348 | 113673376 |
Expression profiles
Bgee: expression breadth ubiquitous, 254 present calls, max score 96.20.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.9992 / max 198.0316, expressed in 1544 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 43850 | 4.9992 | 1544 |
Top tissues by expression
256 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| kidney epithelium | UBERON:0004819 | 96.20 | gold quality |
| deltoid | UBERON:0001476 | 94.57 | gold quality |
| tibialis anterior | UBERON:0001385 | 93.12 | gold quality |
| vastus lateralis | UBERON:0001379 | 92.99 | gold quality |
| pancreatic ductal cell | CL:0002079 | 92.93 | silver quality |
| quadriceps femoris | UBERON:0001377 | 92.66 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 91.61 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 91.27 | gold quality |
| biceps brachii | UBERON:0001507 | 91.24 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 89.58 | gold quality |
| nipple | UBERON:0002030 | 89.24 | gold quality |
| jejunal mucosa | UBERON:0000399 | 89.09 | gold quality |
| muscle tissue | UBERON:0002385 | 89.03 | gold quality |
| upper arm skin | UBERON:0004263 | 88.99 | gold quality |
| jejunum | UBERON:0002115 | 88.83 | gold quality |
| superior surface of tongue | UBERON:0007371 | 88.38 | gold quality |
| sperm | CL:0000019 | 88.28 | gold quality |
| renal medulla | UBERON:0000362 | 87.88 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 87.68 | gold quality |
| oviduct epithelium | UBERON:0004804 | 87.59 | gold quality |
| body of tongue | UBERON:0011876 | 87.57 | gold quality |
| cerebellar vermis | UBERON:0004720 | 87.50 | gold quality |
| tongue | UBERON:0001723 | 87.36 | gold quality |
| visceral pleura | UBERON:0002401 | 87.02 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 86.80 | gold quality |
| thymus | UBERON:0002370 | 86.59 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 86.41 | gold quality |
| ileal mucosa | UBERON:0000331 | 86.06 | gold quality |
| buccal mucosa cell | CL:0002336 | 85.73 | gold quality |
| cardia of stomach | UBERON:0001162 | 85.38 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 6.04 |
Regulation
Is transcription factor: yes
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA2601.1 | USF3 | bHLH-ZIP |
JASPAR matrix evidence (PMIDs): PMID:39605368
miRNA regulators (miRDB)
327 targeting USF3, 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-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-511-3P | 99.99 | 68.85 | 1467 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
Literature-anchored findings (GeneRIF, showing 3)
- Therefore, USF3 may be involved in the predisposition of thyroid cancer. Importantly, the results that glutamine-dependent survival and sensitivity to ER stress in USF3-deficient cells provide avenues for therapeutic and adjunct preventive interventions for both sporadic cancer as well as cancer predisposition syndromes with similar mechanisms. (PMID:28011713)
- Osteoporosis genome-wide association study variant c.3781 C>A is regulated by a novel anti-osteogenic factor miR-345-5p. (PMID:31883164)
- USF3 modulates osteoporosis risk by targeting WNT16, RANKL, RUNX2, and two GWAS lead SNPs rs2908007 and rs4531631. (PMID:33058301)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | usf3 | ENSDARG00000077431 |
| mus_musculus | Usf3 | ENSMUSG00000068284 |
| rattus_norvegicus | Usf3 | ENSRNOG00000027756 |
Protein
Protein identifiers
Basic helix-loop-helix domain-containing protein USF3 — Q68DE3 (reviewed: Q68DE3)
Alternative names: Upstream transcription factor 3
All UniProt accessions (2): C9JBW0, Q68DE3
UniProt curated annotations — full annotation on UniProt →
Function. Involved in the negative regulation of epithelial-mesenchymal transition, the process by which epithelial cells lose their polarity and adhesion properties to become mesenchymal cells with enhanced migration and invasive properties.
Subcellular location. Nucleus.
RefSeq proteins (1): NP_001009899* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR011598 | bHLH_dom | Domain |
| IPR036638 | HLH_DNA-bd_sf | Homologous_superfamily |
| IPR048064 | USF3_bHLH | Domain |
| IPR053252 | EMT_regulator | Family |
Pfam: PF00010
UniProt features (45 total): compositionally biased region 15, region of interest 14, sequence variant 7, sequence conflict 6, chain 1, domain 1, coiled-coil region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q68DE3-F1 | 36.98 | 0.04 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 308 (showing top):
GOBP_NEGATIVE_REGULATION_OF_EPITHELIAL_TO_MESENCHYMAL_TRANSITION, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, GOBP_MESENCHYMAL_CELL_DIFFERENTIATION, GOBP_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS, GOBP_MESENCHYME_DEVELOPMENT, TAATGTG_MIR323, GOBP_REGULATION_OF_EPITHELIAL_TO_MESENCHYMAL_TRANSITION, DURCHDEWALD_SKIN_CARCINOGENESIS_DN, ZHENG_BOUND_BY_FOXP3, GOMF_PROTEIN_DIMERIZATION_ACTIVITY, NUYTTEN_NIPP1_TARGETS_DN, ZHOU_INFLAMMATORY_RESPONSE_LIVE_UP, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, DODD_NASOPHARYNGEAL_CARCINOMA_DN, LEE_DIFFERENTIATING_T_LYMPHOCYTE
GO Biological Process (2): negative regulation of epithelial to mesenchymal transition (GO:0010719), positive regulation of transcription by RNA polymerase II (GO:0045944)
GO Molecular Function (4): RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), protein dimerization activity (GO:0046983), DNA binding (GO:0003677)
GO Cellular Component (1): nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| epithelial to mesenchymal transition | 1 |
| regulation of epithelial to mesenchymal transition | 1 |
| negative regulation of cell differentiation | 1 |
| negative regulation of multicellular organismal process | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| transcription by RNA polymerase II | 1 |
| positive regulation of DNA-templated transcription | 1 |
| transcription cis-regulatory region binding | 1 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 1 |
| DNA-binding transcription factor activity, RNA polymerase II-specific | 1 |
| DNA-binding transcription activator activity | 1 |
| positive regulation of transcription by RNA polymerase II | 1 |
| protein binding | 1 |
| nucleic acid binding | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1150 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| USF3 | ASTE1 | Q2TB18 | 513 |
| USF3 | CCDC150 | Q8NCX0 | 455 |
| USF3 | TMEM244 | Q5VVB8 | 447 |
| USF3 | ANKAR | Q7Z5J8 | 447 |
| USF3 | CAPN12 | Q6ZSI9 | 433 |
| USF3 | SEC23B | Q15437 | 420 |
| USF3 | LRTM3 | Q8NDH2 | 397 |
| USF3 | KLLN | B2CW77 | 395 |
| USF3 | MRPL34 | Q9BQ48 | 388 |
| USF3 | EBLN2 | Q6P2I7 | 377 |
| USF3 | ADGRG7 | Q96K78 | 375 |
| USF3 | MRPS14 | O60783 | 371 |
| USF3 | C9orf43 | Q8TAL5 | 370 |
| USF3 | OR11G2 | Q8NGC1 | 367 |
| USF3 | MRPL48 | Q96GC5 | 364 |
IntAct
17 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TSG101 | USF3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| USF3 | H1-2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| USF3 | HIST2H2BF | psi-mi:“MI:0915”(physical association) | 0.400 |
| USF3 | H4C16 | psi-mi:“MI:0915”(physical association) | 0.400 |
| USF3 | H3-4 | psi-mi:“MI:0915”(physical association) | 0.400 |
| USF3 | H2BC9 | psi-mi:“MI:0915”(physical association) | 0.400 |
| USF3 | H2BC21 | psi-mi:“MI:0915”(physical association) | 0.400 |
| USF3 | H2BC5 | psi-mi:“MI:0915”(physical association) | 0.400 |
| USF3 | HMGN2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| USF3 | H2BC12L | psi-mi:“MI:0915”(physical association) | 0.400 |
| USF3 | H2AC4 | psi-mi:“MI:0915”(physical association) | 0.400 |
| USF3 | SDHA | psi-mi:“MI:0915”(physical association) | 0.400 |
| SDC2 | ELAPOR2 | psi-mi:“MI:0914”(association) | 0.350 |
| USF3 | psi-mi:“MI:0915”(physical association) | 0.000 | |
| USF3 | NFYC | psi-mi:“MI:0915”(physical association) | 0.000 |
ESM2 similar proteins: A0A1L8GSA2, A0A1L8H0H2, A0JN51, A0JP82, A2AWL7, A2BGM5, A2RRX6, F8VPJ6, K9JHZ4, O13186, O46567, O54826, O89091, P04150, P08235, P15822, P22199, P32519, P36197, P37275, P48552, P55197, P59759, P79269, P79686, Q29131, Q2KHR2, Q3YC04, Q4JM28, Q5R9P5, Q60775, Q61321, Q62947, Q64318, Q68DE3, Q6XLJ0, Q8AYC1, Q8AYC2, Q8BMA5, Q8IZQ8
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 15 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 |
|---|---|---|---|
| Packaging Of Telomere Ends | 7 | 128.1× | 2e-12 |
| Recognition and association of DNA glycosylase with site containing an affected purine | 7 | 119.0× | 2e-12 |
| Cleavage of the damaged purine | 7 | 119.0× | 2e-12 |
| Replacement of protamines by nucleosomes in the male pronucleus | 5 | 113.3× | 1e-09 |
| Recognition and association of DNA glycosylase with site containing an affected pyrimidine | 7 | 107.5× | 2e-12 |
| Cleavage of the damaged pyrimidine | 7 | 107.5× | 2e-12 |
| Inhibition of DNA recombination at telomere | 7 | 98.0× | 3e-12 |
| DNA Damage/Telomere Stress Induced Senescence | 7 | 95.2× | 3e-12 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| nucleosome assembly | 5 | 54.0× | 1e-06 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
295 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 252 |
| Likely benign | 20 |
| Benign | 5 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
846 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:113661426:C:CC | acceptor_gain | 1.0000 |
| 3:113664307:CTTTA:C | donor_loss | 1.0000 |
| 3:113664308:TTTAC:T | donor_loss | 1.0000 |
| 3:113664309:TTACC:T | donor_loss | 1.0000 |
| 3:113664310:TAC:T | donor_loss | 1.0000 |
| 3:113664408:CT:C | acceptor_gain | 1.0000 |
| 3:113664409:TCTG:T | acceptor_loss | 1.0000 |
| 3:113664410:C:CC | acceptor_gain | 1.0000 |
| 3:113664415:C:CT | acceptor_gain | 1.0000 |
| 3:113664415:C:T | acceptor_gain | 1.0000 |
| 3:113664416:A:T | acceptor_gain | 1.0000 |
| 3:113674827:CATA:C | donor_loss | 1.0000 |
| 3:113674828:ATAC:A | donor_loss | 1.0000 |
| 3:113674829:TACC:T | donor_loss | 1.0000 |
| 3:113674830:A:T | donor_loss | 1.0000 |
| 3:113674831:C:G | donor_loss | 1.0000 |
| 3:113674894:AACC:A | acceptor_loss | 1.0000 |
| 3:113674897:C:CA | acceptor_loss | 1.0000 |
| 3:113674897:C:CC | acceptor_gain | 1.0000 |
| 3:113674898:T:A | acceptor_loss | 1.0000 |
| 3:113696366:TTA:T | donor_loss | 1.0000 |
| 3:113696367:TA:T | donor_loss | 1.0000 |
| 3:113696368:A:AC | donor_gain | 1.0000 |
| 3:113696368:AC:A | donor_gain | 1.0000 |
| 3:113696368:ACCCG:A | donor_gain | 1.0000 |
| 3:113696369:C:CT | donor_gain | 1.0000 |
| 3:113696369:CC:C | donor_gain | 1.0000 |
| 3:113696369:CCCG:C | donor_gain | 1.0000 |
| 3:113696369:CCCGC:C | donor_gain | 1.0000 |
| 3:113661423:CAG:C | acceptor_gain | 0.9900 |
AlphaMissense
14783 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:113661353:A:G | L110P | 1.000 |
| 3:113664384:G:T | A62D | 1.000 |
| 3:113664385:C:G | A62P | 1.000 |
| 3:113664393:A:G | L59P | 1.000 |
| 3:113664396:A:C | I58S | 1.000 |
| 3:113664396:A:T | I58N | 1.000 |
| 3:113664404:C:A | K55N | 1.000 |
| 3:113664404:C:G | K55N | 1.000 |
| 3:113664405:T:A | K55M | 1.000 |
| 3:113670149:A:G | L44P | 1.000 |
| 3:113670167:A:T | I38K | 1.000 |
| 3:113670171:C:G | G37R | 1.000 |
| 3:113670171:C:T | G37R | 1.000 |
| 3:113670174:C:G | A36P | 1.000 |
| 3:113670179:A:C | I34S | 1.000 |
| 3:113670179:A:G | I34T | 1.000 |
| 3:113670179:A:T | I34N | 1.000 |
| 3:113670187:C:A | K31N | 1.000 |
| 3:113670187:C:G | K31N | 1.000 |
| 3:113670189:T:C | K31E | 1.000 |
| 3:113670190:T:A | R30S | 1.000 |
| 3:113670190:T:G | R30S | 1.000 |
| 3:113670191:C:A | R30I | 1.000 |
| 3:113670191:C:G | R30T | 1.000 |
| 3:113670192:T:C | R30G | 1.000 |
| 3:113670196:C:A | R28S | 1.000 |
| 3:113670196:C:G | R28S | 1.000 |
| 3:113670200:T:A | E27V | 1.000 |
| 3:113670201:C:T | E27K | 1.000 |
| 3:113673357:G:C | H23D | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000001993 (3:113652044 T>C), RS1000089700 (3:113673651 A>G), RS1000247099 (3:113668201 G>A), RS1000263389 (3:113692222 C>T), RS1000445900 (3:113685312 A>G), RS1000451040 (3:113660522 C>T), RS1000522289 (3:113693852 T>C), RS1000557481 (3:113659559 A>G,T), RS1000559004 (3:113652808 T>C,G), RS1000578511 (3:113678881 A>C), RS1000688986 (3:113671949 C>T), RS1000694547 (3:113679071 C>G,T), RS1000864202 (3:113665146 G>A), RS1001110138 (3:113673962 A>G), RS1001162417 (3:113657734 G>A)
Disease associations
OMIM: gene MIM:617568 | disease phenotypes: MIM:158350
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| Cowden disease | Supportive | Autosomal dominant |
| schizophrenia | No Known Disease Relationship | Unknown |
Mondo (3): Cowden disease (MONDO:0016063), CIC-rearranged sarcoma (MONDO:0956989), schizophrenia (MONDO:0005090)
Orphanet (1): Cowden syndrome (Orphanet:201)
HPO phenotypes
57 total (30 of 57 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000036 | Abnormal penis morphology |
| HP:0000077 | Abnormality of the kidney |
| HP:0000130 | Abnormality of the uterus |
| HP:0000158 | Macroglossia |
| HP:0000218 | High palate |
| HP:0000221 | Furrowed tongue |
| HP:0000256 | Macrocephaly |
| HP:0000365 | Hearing impairment |
| HP:0000518 | Cataract |
| HP:0000545 | Myopia |
| HP:0000717 | Autism |
| HP:0000767 | Pectus excavatum |
| HP:0000771 | Gynecomastia |
| HP:0000820 | Abnormality of the thyroid gland |
| HP:0000853 | Goiter |
| HP:0000982 | Palmoplantar keratoderma |
| HP:0000995 | Melanocytic nevus |
| HP:0001048 | Cavernous hemangioma |
| HP:0001053 | Hypopigmented skin patches |
| HP:0001156 | Brachydactyly |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001251 | Ataxia |
| HP:0001263 | Global developmental delay |
| HP:0001317 | Abnormal cerebellum morphology |
| HP:0001482 | Subcutaneous nodule |
| HP:0001508 | Failure to thrive |
| HP:0002516 | Increased intracranial pressure |
| HP:0002650 | Scoliosis |
| HP:0002664 | Neoplasm |
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001942_7 | Prostate cancer | 4.000000e-13 |
| GCST007691_1 | Femoral neck bone mineral density | 4.000000e-10 |
| GCST008152_48 | Weight | 1.000000e-06 |
| GCST008158_45 | Body mass index | 1.000000e-06 |
| GCST008363_106 | Offspring birth weight | 1.000000e-08 |
| GCST009391_1132 | Metabolite levels | 6.000000e-06 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007785 | femoral neck bone mineral density |
| EFO:0004338 | body weight |
| EFO:0004340 | body mass index |
| EFO:0004344 | birth weight |
| EFO:0005939 | parental genotype effect measurement |
| EFO:0010489 | glycerophosphocholine measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D006223 | Hamartoma Syndrome, Multiple | C04.445.435; C04.651.435; C04.700.435; C16.320.700.435 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
21 total (human), top 21 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases expression, decreases expression, increases methylation, affects cotreatment | 4 |
| Aflatoxin B1 | decreases methylation, increases methylation, decreases expression | 3 |
| Acetaminophen | decreases expression | 2 |
| Benzo(a)pyrene | affects methylation, increases mutagenesis | 2 |
| dicrotophos | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| 2-butenal | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| abrine | decreases expression | 1 |
| Grape Seed Proanthocyanidins | affects cotreatment, increases expression | 1 |
| jinfukang | decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Catechin | affects cotreatment, increases expression | 1 |
| Cisplatin | decreases expression | 1 |
| Hydralazine | affects cotreatment, increases expression | 1 |
| Phthalic Acids | increases methylation | 1 |
| Tretinoin | increases expression | 1 |
| Urethane | increases expression | 1 |
| Antirheumatic Agents | increases expression | 1 |
| Lactic Acid | decreases expression | 1 |
Clinical trials (associated diseases)
316 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, Cowden disease
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): CIC-rearranged sarcoma, Cowden disease