CNPY4
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Also known as MGC40499PRAT4B
Summary
CNPY4 (canopy FGF signaling regulator 4, HGNC:28631) is a protein-coding gene on chromosome 7q22.1, encoding Protein canopy homolog 4 (Q8N129). Plays a role in the regulation of the cell surface expression of TLR4.
Predicted to enable signaling receptor binding activity. Involved in positive regulation of protein localization to plasma membrane. Predicted to be located in extracellular region.
Source: NCBI Gene 245812 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 49 total
- Phenotypes (HPO): 1
- MANE Select transcript:
NM_152755
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28631 |
| Approved symbol | CNPY4 |
| Name | canopy FGF signaling regulator 4 |
| Location | 7q22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC40499, PRAT4B |
| Ensembl gene | ENSG00000166997 |
| Ensembl biotype | protein_coding |
| OMIM | 610047 |
| Entrez | 245812 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 8 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000262932, ENST00000462193, ENST00000470153, ENST00000480692, ENST00000483756, ENST00000907886, ENST00000907887, ENST00000919349, ENST00000970780, ENST00000970781, ENST00000970782
RefSeq mRNA: 1 — MANE Select: NM_152755
NM_152755
CCDS: CCDS34701
Canonical transcript exons
ENST00000262932 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001145024 | 100124725 | 100125508 |
| ENSE00001145029 | 100119634 | 100119862 |
| ENSE00003519590 | 100122481 | 100122577 |
| ENSE00003566223 | 100122784 | 100122906 |
| ENSE00003647891 | 100122259 | 100122385 |
| ENSE00003669600 | 100124514 | 100124631 |
Expression profiles
Bgee: expression breadth ubiquitous, 259 present calls, max score 95.20.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.8646 / max 233.8291, expressed in 1760 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 79927 | 17.0466 | 1756 |
| 79928 | 0.4444 | 215 |
| 79929 | 0.3735 | 199 |
Top tissues by expression
278 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| stromal cell of endometrium | CL:0002255 | 95.20 | gold quality |
| diaphragm | UBERON:0001103 | 90.85 | gold quality |
| type B pancreatic cell | CL:0000169 | 90.82 | silver quality |
| granulocyte | CL:0000094 | 90.28 | gold quality |
| olfactory bulb | UBERON:0002264 | 90.04 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 89.99 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 89.88 | gold quality |
| right ovary | UBERON:0002118 | 89.82 | gold quality |
| endocervix | UBERON:0000458 | 89.52 | gold quality |
| ventricular zone | UBERON:0003053 | 89.12 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 88.96 | gold quality |
| left ovary | UBERON:0002119 | 88.88 | gold quality |
| body of uterus | UBERON:0009853 | 88.79 | gold quality |
| thoracic aorta | UBERON:0001515 | 88.69 | gold quality |
| calcaneal tendon | UBERON:0003701 | 88.63 | gold quality |
| ascending aorta | UBERON:0001496 | 88.62 | gold quality |
| adenohypophysis | UBERON:0002196 | 88.58 | gold quality |
| right adrenal gland | UBERON:0001233 | 88.56 | gold quality |
| apex of heart | UBERON:0002098 | 88.40 | gold quality |
| gall bladder | UBERON:0002110 | 88.30 | gold quality |
| vena cava | UBERON:0004087 | 88.18 | gold quality |
| ectocervix | UBERON:0012249 | 88.14 | gold quality |
| pituitary gland | UBERON:0000007 | 87.80 | gold quality |
| left adrenal gland | UBERON:0001234 | 87.79 | gold quality |
| adrenal cortex | UBERON:0001235 | 87.53 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 87.39 | gold quality |
| left uterine tube | UBERON:0001303 | 87.27 | gold quality |
| left coronary artery | UBERON:0001626 | 86.93 | gold quality |
| adrenal gland | UBERON:0002369 | 86.76 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 86.73 | silver quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.93 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
40 targeting CNPY4, 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-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-1236-3P | 99.94 | 68.04 | 1695 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-3663-3P | 99.84 | 70.39 | 798 |
| HSA-MIR-6756-5P | 99.82 | 67.97 | 2466 |
| HSA-MIR-320A-3P | 99.77 | 69.73 | 2107 |
| HSA-MIR-320B | 99.77 | 69.73 | 2107 |
| HSA-MIR-320C | 99.77 | 69.73 | 2107 |
| HSA-MIR-320D | 99.77 | 69.73 | 2107 |
| HSA-MIR-4429 | 99.77 | 69.62 | 2111 |
| HSA-MIR-6745 | 99.74 | 65.33 | 1321 |
| HSA-MIR-6766-5P | 99.68 | 67.70 | 2325 |
| HSA-MIR-3202 | 99.66 | 67.70 | 2737 |
| HSA-MIR-561-3P | 99.64 | 70.90 | 3647 |
| HSA-MIR-1260A | 99.61 | 66.67 | 1098 |
| HSA-MIR-1260B | 99.61 | 66.67 | 1098 |
| HSA-MIR-762 | 99.58 | 66.61 | 1994 |
| HSA-MIR-4437 | 99.52 | 65.29 | 1266 |
| HSA-MIR-6727-3P | 99.49 | 65.92 | 1333 |
| HSA-MIR-4441 | 99.49 | 66.56 | 3216 |
| HSA-MIR-6081 | 99.48 | 66.07 | 1446 |
| HSA-MIR-4498 | 99.47 | 67.42 | 2360 |
| HSA-MIR-4722-3P | 99.35 | 65.22 | 1099 |
| HSA-MIR-6731-5P | 99.28 | 67.42 | 2375 |
| HSA-MIR-8085 | 99.28 | 67.56 | 2362 |
| HSA-MIR-5690 | 99.25 | 67.58 | 1012 |
| HSA-MIR-544B | 99.18 | 67.41 | 1632 |
| HSA-MIR-5001-5P | 99.05 | 66.76 | 1972 |
| HSA-MIR-7151-3P | 99.04 | 69.72 | 2370 |
| HSA-MIR-655-5P | 98.74 | 65.93 | 888 |
Literature-anchored findings (GeneRIF, showing 2)
- A PRotein Associated with Tlr4 (PRAT4B), regulates cell surface expression of TLR4. PRAT4B has a signal peptide followed by a mature peptide. PRAT4B is associated with the hypoglycosylated, immature form of TLR4 but not with MD-2 or TLR2. (PMID:16338228)
- a mechanism for the differential trafficking of TLR1 I602S variants, and highlight the distinct roles for PRAT4A and PRAT4B in the regulation of TLR1 surface expression. (PMID:22447933)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cnpy4 | ENSDARG00000055797 |
| mus_musculus | Cnpy4 | ENSMUSG00000036968 |
| rattus_norvegicus | Cnpy4 | ENSRNOG00000027175 |
| drosophila_melanogaster | CNPYb | FBGN0036847 |
| caenorhabditis_elegans | WBGENE00007531 |
Paralogs (1): CNPY3 (ENSG00000137161)
Protein
Protein identifiers
Protein canopy homolog 4 — Q8N129 (reviewed: Q8N129)
All UniProt accessions (3): Q8N129, A0A0J9YXE1, A0A0J9YYJ0
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role in the regulation of the cell surface expression of TLR4.
Subunit / interactions. Interacts with TLR4.
Subcellular location. Secreted.
Similarity. Belongs to the canopy family.
RefSeq proteins (1): NP_689968* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR021852 | DUF3456 | Domain |
Pfam: PF11938
UniProt features (9 total): disulfide bond 3, compositionally biased region 2, signal peptide 1, chain 1, region of interest 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N129-F1 | 79.97 | 0.49 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Disulfide bonds (3): 38–196, 41–184, 94–156
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 110 (showing top):
BERTUCCI_MEDULLARY_VS_DUCTAL_BREAST_CANCER_DN, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, YY1_Q6, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, YY1_02, GOBP_REGULATION_OF_CELLULAR_LOCALIZATION, GOMF_SIGNALING_RECEPTOR_BINDING, GOBP_LOCALIZATION_WITHIN_MEMBRANE, GCCATNTTG_YY1_Q6, NUYTTEN_EZH2_TARGETS_DN, OSF2_Q6, MIKKELSEN_ES_ICP_WITH_H3K4ME3, MIKKELSEN_NPC_ICP_WITH_H3K4ME3, GOBP_PROTEIN_LOCALIZATION_TO_PLASMA_MEMBRANE
GO Biological Process (1): positive regulation of protein localization to plasma membrane (GO:1903078)
GO Molecular Function (2): signaling receptor binding (GO:0005102), protein binding (GO:0005515)
GO Cellular Component (1): extracellular region (GO:0005576)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein localization to plasma membrane | 1 |
| regulation of protein localization to plasma membrane | 1 |
| positive regulation of protein localization to cell periphery | 1 |
| positive regulation of protein localization to membrane | 1 |
| protein binding | 1 |
| binding | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
266 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CNPY4 | LY96 | Q9Y6Y9 | 828 |
| CNPY4 | TLR4 | O00206 | 746 |
| CNPY4 | CNPY2 | Q9Y2B0 | 644 |
| CNPY4 | CNPY1 | Q3B7I2 | 584 |
| CNPY4 | GML | Q99445 | 573 |
| CNPY4 | TLR2 | O60603 | 491 |
| CNPY4 | HSP90B1 | P14625 | 469 |
| CNPY4 | LRIG3 | Q6UXM1 | 457 |
| CNPY4 | LRRC40 | Q9H9A6 | 446 |
| CNPY4 | UNC93B1 | Q9H1C4 | 419 |
| CNPY4 | SPMAP2 | Q9P2T0 | 388 |
| CNPY4 | IL3 | P08700 | 387 |
| CNPY4 | GLRX3 | O76003 | 333 |
| CNPY4 | LRIG2 | O94898 | 331 |
| CNPY4 | D6RI10 | D6RI10 | 322 |
IntAct
33 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CHAD | CNPY4 | psi-mi:“MI:0914”(association) | 0.560 |
| CNPY4 | AIFM2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CHAD | CNPY4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LRIG1 | LRIG2 | psi-mi:“MI:0914”(association) | 0.530 |
| LRRTM4 | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| ISLR | BCKDK | psi-mi:“MI:0914”(association) | 0.530 |
| LRRTM2 | GPC3 | psi-mi:“MI:0914”(association) | 0.530 |
| KERA | FBXO21 | psi-mi:“MI:0914”(association) | 0.530 |
| KERA | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| ISLR | DDX11L8 | psi-mi:“MI:0914”(association) | 0.350 |
| PODN | LRP5 | psi-mi:“MI:0914”(association) | 0.350 |
| LRRTM2 | PTPRD | psi-mi:“MI:0914”(association) | 0.350 |
| ORF3 | RNH1 | psi-mi:“MI:0914”(association) | 0.350 |
| RXFP1 | UPK3BL1 | psi-mi:“MI:0914”(association) | 0.350 |
| LGR4 | POLRMT | psi-mi:“MI:0914”(association) | 0.350 |
| LRRC17 | ZZEF1 | psi-mi:“MI:0914”(association) | 0.350 |
| ISM2 | PEX1 | psi-mi:“MI:0914”(association) | 0.350 |
| LRRTM3 | ADCY9 | psi-mi:“MI:0914”(association) | 0.350 |
| GP5 | SLC19A2 | psi-mi:“MI:0914”(association) | 0.350 |
| CLN5 | ADGRL1 | psi-mi:“MI:0914”(association) | 0.350 |
| PODN | HSPA5 | psi-mi:“MI:0914”(association) | 0.350 |
| RXFP2 | LIMK1 | psi-mi:“MI:0914”(association) | 0.350 |
| ITIH6 | CNPY4 | psi-mi:“MI:0914”(association) | 0.350 |
| LYPD1 | ADAM10 | psi-mi:“MI:0914”(association) | 0.350 |
| VASN | DENND11 | psi-mi:“MI:0914”(association) | 0.350 |
| AIFM2 | CNPY4 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (29): CNPY4 (Affinity Capture-MS), CNPY4 (Affinity Capture-MS), CNPY4 (Affinity Capture-MS), CNPY4 (Affinity Capture-MS), CNPY4 (Affinity Capture-MS), CNPY4 (Affinity Capture-MS), CNPY4 (Affinity Capture-MS), CNPY4 (Affinity Capture-MS), CNPY4 (Two-hybrid), CNPY4 (Proximity Label-MS), CNPY4 (Affinity Capture-MS), CNPY4 (Affinity Capture-MS), CNPY4 (Affinity Capture-MS), CNPY4 (Affinity Capture-MS), CNPY4 (Affinity Capture-MS)
ESM2 similar proteins: A0A0L0P4F8, A3KNS2, A5GFQ5, A8XEA2, B2GUV7, B2W244, B4N0P7, C4QZ06, C4R7X8, C4R7X9, F2QQ67, F2QZ66, H3JU05, O17966, O60841, P04786, P06101, P07799, P08113, P11387, P14599, P35016, P41148, P41511, P93119, Q00313, Q04750, Q05D44, Q06BR2, Q07050, Q09261, Q0IF93, Q0P5N1, Q10651, Q27746, Q2L6K8, Q2L6L1, Q5HZV5, Q5RDE1, Q61712
Diamond homologs: A3KNS2, A5GFQ5, Q0P5N1, Q2L6K8, Q3SWX1, Q5HZV5, Q6GN40, Q8BQ47, Q8N129, Q9BT09, Q9DAU1
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
49 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 39 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
985 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:100122227:A:AG | acceptor_gain | 1.0000 |
| 7:100122228:C:G | acceptor_gain | 1.0000 |
| 7:100122257:A:AG | acceptor_gain | 1.0000 |
| 7:100122258:G:GG | acceptor_gain | 1.0000 |
| 7:100122258:GT:G | acceptor_gain | 1.0000 |
| 7:100122258:GTGT:G | acceptor_gain | 1.0000 |
| 7:100122359:G:GT | donor_gain | 1.0000 |
| 7:100122381:GTTTC:G | donor_gain | 1.0000 |
| 7:100122382:TTTC:T | donor_gain | 1.0000 |
| 7:100122384:TC:T | donor_gain | 1.0000 |
| 7:100122386:G:GG | donor_gain | 1.0000 |
| 7:100122568:A:G | donor_gain | 1.0000 |
| 7:100124504:A:AG | acceptor_gain | 1.0000 |
| 7:100124512:A:AG | acceptor_gain | 1.0000 |
| 7:100124513:G:GG | acceptor_gain | 1.0000 |
| 7:100124714:ATCC:A | acceptor_gain | 1.0000 |
| 7:100124717:C:CA | acceptor_gain | 1.0000 |
| 7:100124723:A:AG | acceptor_gain | 1.0000 |
| 7:100124724:G:GG | acceptor_gain | 1.0000 |
| 7:100124724:GC:G | acceptor_gain | 1.0000 |
| 7:100124724:GCAT:G | acceptor_gain | 1.0000 |
| 7:100122236:C:A | acceptor_gain | 0.9900 |
| 7:100122254:A:AG | acceptor_gain | 0.9900 |
| 7:100122255:C:G | acceptor_gain | 0.9900 |
| 7:100122255:CCA:C | acceptor_loss | 0.9900 |
| 7:100122256:CA:C | acceptor_loss | 0.9900 |
| 7:100122257:AG:A | acceptor_loss | 0.9900 |
| 7:100122257:AGT:A | acceptor_gain | 0.9900 |
| 7:100122257:AGTGT:A | acceptor_gain | 0.9900 |
| 7:100122258:GTG:G | acceptor_gain | 0.9900 |
AlphaMissense
1617 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:100122867:G:C | W142C | 0.997 |
| 7:100122867:G:T | W142C | 0.997 |
| 7:100124558:G:C | W170C | 0.996 |
| 7:100124558:G:T | W170C | 0.996 |
| 7:100124598:T:A | C184S | 0.996 |
| 7:100124599:G:C | C184S | 0.996 |
| 7:100122896:T:C | L152P | 0.995 |
| 7:100124556:T:A | W170R | 0.994 |
| 7:100124556:T:C | W170R | 0.994 |
| 7:100122283:T:C | L48P | 0.993 |
| 7:100122570:A:C | Y112S | 0.993 |
| 7:100122516:G:A | C94Y | 0.992 |
| 7:100122809:T:C | L123P | 0.992 |
| 7:100122865:T:A | W142R | 0.992 |
| 7:100122865:T:C | W142R | 0.992 |
| 7:100124514:T:C | C156R | 0.992 |
| 7:100124559:T:G | Y171D | 0.992 |
| 7:100124599:G:A | C184Y | 0.992 |
| 7:100122261:T:A | C41S | 0.991 |
| 7:100122262:G:C | C41S | 0.991 |
| 7:100122515:T:A | C94S | 0.991 |
| 7:100122516:G:C | C94S | 0.991 |
| 7:100122569:T:G | Y112D | 0.991 |
| 7:100122570:A:G | Y112C | 0.991 |
| 7:100122790:A:C | S117R | 0.991 |
| 7:100122792:T:A | S117R | 0.991 |
| 7:100122792:T:G | S117R | 0.991 |
| 7:100122818:T:C | L126P | 0.991 |
| 7:100124514:T:A | C156S | 0.991 |
| 7:100124515:G:C | C156S | 0.991 |
dbSNP variants (sampled 300 via entrez): RS1000349935 (7:100122528 T>C), RS1000697193 (7:100124092 C>T), RS1000757558 (7:100118519 T>C), RS1001198871 (7:100120019 G>T), RS1001625842 (7:100121687 G>A,T), RS1001735567 (7:100125562 G>A), RS1001908091 (7:100121414 G>A), RS1001909220 (7:100120092 C>G), RS1002201203 (7:100121769 G>A,T), RS1002288845 (7:100125423 T>C), RS1002781849 (7:100124199 T>C), RS1003078013 (7:100123936 C>T), RS1003208020 (7:100122714 G>A,C), RS1004206264 (7:100123767 G>A), RS1004237513 (7:100123607 G>A)
Disease associations
OMIM: gene MIM:610047 | disease phenotypes: MIM:209850
GenCC curated gene-disease
Mondo (1): autism (MONDO:0005260)
Orphanet (0):
HPO phenotypes
1 total (1 of 1 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000717 | Autism |
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005196_147 | Coronary artery disease | 2.000000e-06 |
| GCST010002_259 | Refractive error | 3.000000e-16 |
| GCST010275_5 | Renal overload gout | 6.000000e-07 |
| GCST010702_48 | Subcortical volume (MOSTest) | 6.000000e-10 |
| GCST010703_289 | Brain morphology (MOSTest) | 6.000000e-15 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004346 | neuroimaging measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D001321 | Autistic Disorder | F03.625.164.113.500 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB clinical annotations
1 annotations.
| Variant | Type | Level | Drugs | Phenotypes |
|---|---|---|---|---|
| rs1554973 | Efficacy | 3 | Tumor necrosis factor alpha (TNF-alpha) inhibitors | Inflammatory Bowel Diseases |
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs1554973 | CNPY4, TLR4 | 3 | 2.50 | 1 | Tumor necrosis factor alpha (TNF-alpha) inhibitors |
CTD chemical–gene interactions
29 total (human), top 29 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression | 2 |
| Valproic Acid | affects expression, increases expression | 2 |
| Cadmium Chloride | decreases expression | 2 |
| Particulate Matter | increases abundance, affects cotreatment, decreases expression | 2 |
| GSK-J4 | decreases expression | 1 |
| bisphenol A | affects cotreatment, increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| isobutyl alcohol | affects cotreatment, decreases expression, increases abundance | 1 |
| beta-methylcholine | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| abrine | decreases expression | 1 |
| jinfukang | increases expression, affects cotreatment | 1 |
| Sunitinib | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | increases expression | 1 |
| Carbamazepine | affects expression | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | increases expression, affects cotreatment | 1 |
| Gasoline | affects cotreatment, decreases expression, increases abundance | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Polycyclic Aromatic Hydrocarbons | affects cotreatment, decreases expression, increases abundance | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, increases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Lactic Acid | decreases expression | 1 |
| Acrylamide | decreases expression | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00211796 | PHASE4 | COMPLETED | Divalproex Sodium ER in Adult Autism |
| NCT00391261 | PHASE4 | COMPLETED | An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications. |
| NCT00409747 | PHASE4 | COMPLETED | Minocycline to Treat Childhood Regressive Autism |
| NCT00576732 | PHASE4 | COMPLETED | A Study of the Effectiveness and Safety of Two Doses of Risperidone in the Treatment of Children and Adolescents With Autistic Disorder |
| NCT00844753 | PHASE4 | COMPLETED | Atomoxetine, Placebo and Parent Management Training in Autism |
| NCT01028820 | PHASE4 | COMPLETED | FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders |
| NCT01098383 | PHASE4 | UNKNOWN | Treatment With Acetyl-Choline Esterase Inhibitors in Children With Autism Spectrum Disorders |
| NCT01333865 | PHASE4 | COMPLETED | A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders |
| NCT01337700 | PHASE4 | COMPLETED | Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism |
| NCT01695200 | PHASE4 | COMPLETED | Omega-3 Fatty Acids in Autism Spectrum Disorders |
| NCT02069977 | PHASE4 | UNKNOWN | Study to Evaluate the Efficacy and Safety of Aripiprazole |
| NCT02096952 | PHASE4 | COMPLETED | Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD |
| NCT02199925 | PHASE4 | UNKNOWN | An Open-Label Study to Evaluate the Efficacy of High-Dose Gammaplex in Children on the Autism Spectrum |
| NCT02235467 | PHASE4 | COMPLETED | Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism |
| NCT02255565 | PHASE4 | COMPLETED | Dose Response Effects of Quillivant XR in Children With ADHD and Autism: A Pilot Study |
| NCT02940574 | PHASE4 | COMPLETED | Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders |
| NCT03333629 | PHASE4 | COMPLETED | Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes |
| NCT03337646 | PHASE4 | COMPLETED | Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism |
| NCT03538431 | PHASE4 | COMPLETED | Improving Driving in Young People With Autism Spectrum Disorders |
| NCT03757585 | PHASE4 | COMPLETED | Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD) |
| NCT04903353 | PHASE4 | COMPLETED | Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole |
| NCT05063656 | PHASE4 | COMPLETED | Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin |
| NCT05146245 | PHASE4 | UNKNOWN | Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT |
| NCT05916339 | PHASE4 | RECRUITING | AWARE: Management of ADHD in Autism Spectrum Disorder |
| NCT05954052 | PHASE4 | TERMINATED | A Study of Glutathione in Children With Autism Spectrum Disorder |
| NCT06853665 | PHASE4 | RECRUITING | The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine |
| NCT07054697 | PHASE4 | COMPLETED | Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder |
| NCT07161804 | PHASE4 | COMPLETED | Pilot RCT Using Homeopathic Medicines in ASD |
| NCT07439042 | PHASE4 | NOT_YET_RECRUITING | Buspirone for Anxiety in Autistic Youth |
| NCT00036231 | PHASE3 | TERMINATED | Synthetic Human Secretin in Children With Autism and Gastrointestinal Dysfunction |
| NCT00036244 | PHASE3 | COMPLETED | Synthetic Human Secretin in Children With Autism |
| NCT00065884 | PHASE3 | UNKNOWN | Valproate Response in Aggressive Autistic Adolescents |
| NCT00065962 | PHASE3 | COMPLETED | Secretin for the Treatment of Autism |
| NCT00252603 | PHASE3 | COMPLETED | Galantamine Versus Placebo in Childhood Autism |
| NCT00346736 | PHASE3 | COMPLETED | Use of Acupuncture In Children With Autistic Spectrum Disorder |
| NCT00352248 | PHASE3 | COMPLETED | Randomized Controlled Trial of Acupuncture Versus Sham Acupuncture in Autistic Spectrum Disorder |
| NCT00352352 | PHASE3 | COMPLETED | Use of Acupuncture In Children With Autistic Spectrum Disorder |
| NCT00355329 | PHASE3 | COMPLETED | Randomized Control Trial of Using Tongue Acupuncture in Autistic Spectrum Disorder Using PET Scan for Clinical Correlation |
| NCT00498173 | PHASE3 | COMPLETED | Effectiveness of Atomoxetine in Treating ADHD Symptoms in Children and Adolescents With Autism |
| NCT00541346 | PHASE3 | COMPLETED | A Pilot Study of Daytrana TM in Children With Autism Co-Morbid for Attention Deficit Hyperactivity Disorder (ADHD) Symptoms |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): gout