UBN2
gene geneOn this page
Also known as FLJ25778KIAA2030
Summary
UBN2 (ubinuclein 2, HGNC:21931) is a protein-coding gene on chromosome 7q34, encoding Ubinuclein-2 (Q6ZU65).
Predicted to be involved in chromatin organization. Located in nucleoplasm.
Source: NCBI Gene 254048 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 214 total — 1 likely-pathogenic
- Dosage sensitivity (ClinGen): haploinsufficiency little evidence, triplosensitivity no evidence
- MANE Select transcript:
NM_173569
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:21931 |
| Approved symbol | UBN2 |
| Name | ubinuclein 2 |
| Location | 7q34 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ25778, KIAA2030 |
| Ensembl gene | ENSG00000157741 |
| Ensembl biotype | protein_coding |
| OMIM | 613841 |
| Entrez | 254048 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 5 protein_coding, 1 retained_intron
ENST00000473989, ENST00000483726, ENST00000486663, ENST00000609762, ENST00000896062, ENST00000896063
RefSeq mRNA: 1 — MANE Select: NM_173569
NM_173569
CCDS: CCDS43655
Canonical transcript exons
ENST00000473989 — 18 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001034663 | 139273297 | 139273410 |
| ENSE00001034670 | 139279318 | 139279360 |
| ENSE00001034672 | 139272322 | 139272440 |
| ENSE00001034673 | 139269394 | 139269523 |
| ENSE00001034675 | 139273931 | 139274074 |
| ENSE00001209187 | 139283024 | 139284574 |
| ENSE00001216442 | 139282005 | 139282055 |
| ENSE00001216456 | 139276097 | 139276147 |
| ENSE00001347624 | 139266333 | 139266403 |
| ENSE00001369176 | 139261252 | 139261741 |
| ENSE00001370910 | 139293889 | 139293981 |
| ENSE00001391038 | 139293232 | 139293463 |
| ENSE00001419086 | 139258488 | 139258625 |
| ENSE00001419770 | 139259267 | 139259370 |
| ENSE00001420725 | 139251956 | 139252057 |
| ENSE00003596902 | 139231237 | 139231952 |
| ENSE00003667858 | 139237005 | 139237097 |
| ENSE00003705875 | 139297787 | 139308236 |
Expression profiles
Bgee: expression breadth ubiquitous, 255 present calls, max score 96.00.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.1424 / max 114.2033, expressed in 1717 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 81433 | 7.1429 | 1661 |
| 81432 | 1.0346 | 563 |
| 81434 | 0.6983 | 318 |
| 81435 | 0.2666 | 93 |
Top tissues by expression
256 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| upper arm skin | UBERON:0004263 | 96.00 | gold quality |
| caput epididymis | UBERON:0004358 | 95.97 | gold quality |
| corpus epididymis | UBERON:0004359 | 95.75 | gold quality |
| cauda epididymis | UBERON:0004360 | 94.12 | gold quality |
| sperm | CL:0000019 | 93.83 | gold quality |
| bronchial epithelial cell | CL:0002328 | 93.70 | gold quality |
| bronchus | UBERON:0002185 | 93.45 | gold quality |
| sural nerve | UBERON:0015488 | 93.43 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 93.20 | gold quality |
| kidney epithelium | UBERON:0004819 | 93.00 | gold quality |
| upper leg skin | UBERON:0004262 | 92.78 | gold quality |
| skin of hip | UBERON:0001554 | 92.23 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 91.98 | gold quality |
| cerebellar vermis | UBERON:0004720 | 91.77 | gold quality |
| tibialis anterior | UBERON:0001385 | 91.38 | gold quality |
| ileal mucosa | UBERON:0000331 | 91.32 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 91.21 | gold quality |
| deltoid | UBERON:0001476 | 90.92 | gold quality |
| medial globus pallidus | UBERON:0002477 | 90.69 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 90.64 | gold quality |
| globus pallidus | UBERON:0001875 | 90.34 | gold quality |
| nipple | UBERON:0002030 | 90.31 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 90.06 | gold quality |
| lower lobe of lung | UBERON:0008949 | 89.96 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 89.79 | gold quality |
| pancreatic ductal cell | CL:0002079 | 89.73 | gold quality |
| corpus callosum | UBERON:0002336 | 89.46 | gold quality |
| biceps brachii | UBERON:0001507 | 89.36 | gold quality |
| thymus | UBERON:0002370 | 89.15 | gold quality |
| cardia of stomach | UBERON:0001162 | 89.03 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.21 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
503 targeting UBN2, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| 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-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-6798-5P | 100.00 | 65.77 | 699 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
Functional genomics
ClinGen dosage: haploinsufficiency 1 (little evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map
Literature-anchored findings (GeneRIF, showing 1)
- MiR-455-3p mediates PPARalpha through UBN2 to promote apoptosis and autophagy in acute myeloid leukemia cells. (PMID:37805161)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ubn2a | ENSDARG00000063062 |
| danio_rerio | ubn2b | ENSDARG00000100508 |
| mus_musculus | Ubn2 | ENSMUSG00000038538 |
| rattus_norvegicus | Ubn2 | ENSRNOG00000005564 |
Paralogs (1): UBN1 (ENSG00000118900)
Protein
Protein identifiers
Ubinuclein-2 — Q6ZU65 (reviewed: Q6ZU65)
All UniProt accessions (3): C9J6Y5, Q6ZU65, H7C4P8
UniProt curated annotations — full annotation on UniProt →
Tissue specificity. Expressed in several cell lines tested, including primary and transformed cell lines.
Similarity. Belongs to the ubinuclein family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6ZU65-1 | 1 | yes |
| Q6ZU65-2 | 2 |
RefSeq proteins (1): NP_775840* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR014840 | HRD | Domain |
| IPR026947 | UBN_middle_dom | Domain |
Pfam: PF08729, PF14075
UniProt features (40 total): compositionally biased region 15, modified residue 12, region of interest 8, splice variant 2, chain 1, cross-link 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6ZU65-F1 | 52.08 | 0.09 |
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 (13): 13, 243, 250, 252, 311, 416, 419, 422, 584, 1068, 1123, 1148, 272
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 181 (showing top):
PATIL_LIVER_CANCER, GOBP_REGULATION_OF_CHROMATIN_ORGANIZATION, GOBP_PROTEIN_DNA_COMPLEX_ORGANIZATION, GOBP_CHROMATIN_REMODELING, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_DN, MARTENS_BOUND_BY_PML_RARA_FUSION, GOBP_NUCLEOSOME_ORGANIZATION, CSR_EARLY_UP.V1_DN, BARX1_TARGET_GENES, CIITA_TARGET_GENES, CREB3L4_TARGET_GENES, DLX4_TARGET_GENES, FEV_TARGET_GENES, FOXN3_TARGET_GENES, HOXC6_TARGET_GENES
GO Biological Process (1): chromatin organization (GO:0006325)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (3): obsolete extracellular space (GO:0005615), nucleus (GO:0005634), nucleoplasm (GO:0005654)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular component organization | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1042 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| UBN2 | CABIN1 | Q9Y6J0 | 838 |
| UBN2 | KLRG2 | A4D1S0 | 657 |
| UBN2 | ZBTB2 | Q8N680 | 566 |
| UBN2 | HIRA | P54198 | 515 |
| UBN2 | FAM47A | Q5JRC9 | 505 |
| UBN2 | PHF3 | Q92576 | 479 |
| UBN2 | LMOD2 | Q6P5Q4 | 435 |
| UBN2 | DMRTC1 | Q5HYR2 | 427 |
| UBN2 | ASF1A | Q9Y294 | 422 |
| UBN2 | MED13L | Q71F56 | 396 |
| UBN2 | DIP2C | Q9Y2E4 | 393 |
| UBN2 | C1orf74 | Q96LT6 | 378 |
| UBN2 | FMC1 | Q96HJ9 | 377 |
| UBN2 | PXT1 | Q8NFP0 | 377 |
| UBN2 | C7orf33 | Q8WU49 | 374 |
IntAct
80 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ASF1A | HAT1 | psi-mi:“MI:0914”(association) | 0.640 |
| ASF1B | HAT1 | psi-mi:“MI:0914”(association) | 0.640 |
| TFAP4 | ANGPTL7 | psi-mi:“MI:0914”(association) | 0.640 |
| HIRA | UBN2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BAG2 | HGS | psi-mi:“MI:0914”(association) | 0.530 |
| RBBP4 | TNRC18 | psi-mi:“MI:0914”(association) | 0.530 |
| HMGA1 | MACROH2A1 | psi-mi:“MI:0914”(association) | 0.530 |
| ALX3 | CRTAP | psi-mi:“MI:0914”(association) | 0.530 |
| HIRA | CSPG5 | psi-mi:“MI:0914”(association) | 0.530 |
| TEAD2 | TEAD1 | psi-mi:“MI:0914”(association) | 0.530 |
| ASF1A | MCM4 | psi-mi:“MI:0914”(association) | 0.530 |
| EN1 | NFIB | psi-mi:“MI:2364”(proximity) | 0.470 |
| H3C1 | SMCHD1 | psi-mi:“MI:2364”(proximity) | 0.410 |
| Set | ZKSCAN1 | psi-mi:“MI:0914”(association) | 0.350 |
| ASF1A | CDAN1 | psi-mi:“MI:0914”(association) | 0.350 |
| ORF73 | ECI2 | psi-mi:“MI:0914”(association) | 0.350 |
| TCF7L2 | LOC401309 | psi-mi:“MI:0914”(association) | 0.350 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| EN1 | RPA1 | psi-mi:“MI:0914”(association) | 0.350 |
| KLF16 | psi-mi:“MI:0914”(association) | 0.350 | |
| TLX1 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.350 |
| CALD1 | psi-mi:“MI:0914”(association) | 0.350 | |
| CALM3 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| CAPZB | ENAH | psi-mi:“MI:0914”(association) | 0.350 |
| CTTN | psi-mi:“MI:0914”(association) | 0.350 | |
| DBNL | ZNF536 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (127): UBN2 (Affinity Capture-MS), UBN2 (Proximity Label-MS), UBN2 (Proximity Label-MS), UBN2 (Affinity Capture-MS), UBN2 (Affinity Capture-MS), UBN2 (Affinity Capture-MS), UBN2 (Affinity Capture-MS), UBN2 (Affinity Capture-MS), UBN2 (Affinity Capture-MS), UBN2 (Affinity Capture-MS), UBN2 (Affinity Capture-MS), UBN2 (Affinity Capture-MS), UBN2 (Affinity Capture-MS), UBN2 (Affinity Capture-RNA), UBN2 (Affinity Capture-MS)
ESM2 similar proteins: A0A1B0GTU1, A2AUY4, B7ZS37, D3Z8Y2, D4A4L4, D4A666, E1B7L7, O46385, O60293, O75152, O95425, P0DQW0, Q08AZ1, Q3KQW7, Q3U1C4, Q3UH68, Q3ZC82, Q4G0F8, Q4V9H5, Q5F3Z9, Q5NBX1, Q5REG6, Q5ZJJ1, Q5ZM88, Q61464, Q62394, Q68FE9, Q6NZF1, Q6PJT7, Q6ZQ03, Q6ZU65, Q76L83, Q7TMD5, Q8BHZ4, Q8BJ05, Q8BLG0, Q8BZ32, Q8C9B9, Q8CCJ9, Q8K298
Diamond homologs: D4A666, E1B7L7, P25992, Q4G0F8, Q6ZU65, Q80WC1, Q9NPG3
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| UBN2 | “form complex” | “HIRA complex 2” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 116 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 |
|---|---|---|---|
| Dengue Virus-Host Interactions | 10 | 5.5× | 7e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| nucleosome assembly | 10 | 12.9× | 4e-06 |
| mRNA transport | 5 | 12.1× | 6e-03 |
| chromatin remodeling | 9 | 6.0× | 3e-03 |
| transcription by RNA polymerase II | 9 | 5.8× | 3e-03 |
| mRNA processing | 8 | 5.8× | 7e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
214 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 167 |
| Likely benign | 11 |
| Benign | 11 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 689795 | NM_173569.4(UBN2):c.2024+1G>A | Likely pathogenic |
SpliceAI
2809 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:139236989:A:AG | acceptor_gain | 1.0000 |
| 7:139236990:T:G | acceptor_gain | 1.0000 |
| 7:139236993:A:AG | acceptor_gain | 1.0000 |
| 7:139236993:ACCTT:A | acceptor_gain | 1.0000 |
| 7:139236994:C:G | acceptor_gain | 1.0000 |
| 7:139236997:T:TA | acceptor_gain | 1.0000 |
| 7:139237000:A:AG | acceptor_gain | 1.0000 |
| 7:139237003:A:AG | acceptor_gain | 1.0000 |
| 7:139237004:G:GG | acceptor_gain | 1.0000 |
| 7:139237004:GAAGA:G | acceptor_gain | 1.0000 |
| 7:139237093:AATAT:A | donor_gain | 1.0000 |
| 7:139237094:ATAT:A | donor_gain | 1.0000 |
| 7:139237095:TAT:T | donor_gain | 1.0000 |
| 7:139237096:AT:A | donor_gain | 1.0000 |
| 7:139237096:ATGTG:A | donor_loss | 1.0000 |
| 7:139237097:TGTG:T | donor_loss | 1.0000 |
| 7:139237098:G:A | donor_loss | 1.0000 |
| 7:139237098:G:GG | donor_gain | 1.0000 |
| 7:139237099:TGAGT:T | donor_loss | 1.0000 |
| 7:139237102:G:C | donor_loss | 1.0000 |
| 7:139251950:TTGCA:T | acceptor_loss | 1.0000 |
| 7:139251951:TGCA:T | acceptor_loss | 1.0000 |
| 7:139251952:GCA:G | acceptor_loss | 1.0000 |
| 7:139251953:CA:C | acceptor_loss | 1.0000 |
| 7:139251954:A:AT | acceptor_loss | 1.0000 |
| 7:139251954:AG:A | acceptor_gain | 1.0000 |
| 7:139251954:AGGGT:A | acceptor_gain | 1.0000 |
| 7:139251955:G:GT | acceptor_loss | 1.0000 |
| 7:139251955:GG:G | acceptor_gain | 1.0000 |
| 7:139251955:GGGT:G | acceptor_gain | 1.0000 |
AlphaMissense
8700 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:139252016:G:C | G208R | 1.000 |
| 7:139252019:T:C | Y209H | 1.000 |
| 7:139252032:A:G | D213G | 1.000 |
| 7:139252037:T:C | F215L | 1.000 |
| 7:139252038:T:C | F215S | 1.000 |
| 7:139252038:T:G | F215C | 1.000 |
| 7:139252039:T:A | F215L | 1.000 |
| 7:139252039:T:G | F215L | 1.000 |
| 7:139252041:T:A | I216N | 1.000 |
| 7:139252043:G:C | D217H | 1.000 |
| 7:139252044:A:C | D217A | 1.000 |
| 7:139252044:A:G | D217G | 1.000 |
| 7:139252044:A:T | D217V | 1.000 |
| 7:139252048:C:A | N218K | 1.000 |
| 7:139252048:C:G | N218K | 1.000 |
| 7:139252049:T:C | S219P | 1.000 |
| 7:139258488:T:C | Y222H | 1.000 |
| 7:139258491:G:C | D223H | 1.000 |
| 7:139258492:A:C | D223A | 1.000 |
| 7:139258492:A:T | D223V | 1.000 |
| 7:139258498:T:C | L225S | 1.000 |
| 7:139258501:T:A | V226D | 1.000 |
| 7:139258503:C:A | P227T | 1.000 |
| 7:139258504:C:A | P227H | 1.000 |
| 7:139258504:C:G | P227R | 1.000 |
| 7:139258513:T:C | L230P | 1.000 |
| 7:139258528:G:A | G235E | 1.000 |
| 7:139258528:G:T | G235V | 1.000 |
| 7:139258530:G:C | G236R | 1.000 |
| 7:139258531:G:A | G236D | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000069066 (7:139246232 G>A), RS1000084221 (7:139326644 A>C,G), RS1000099104 (7:139298427 A>C), RS1000115882 (7:139315906 A>C,G), RS1000132512 (7:139281354 A>C,G), RS1000146610 (7:139246563 G>T), RS1000169416 (7:139320128 CAG>C), RS1000248070 (7:139275243 A>G), RS1000269890 (7:139314703 C>A,G,T), RS1000279474 (7:139240425 C>T), RS1000352385 (7:139306372 A>G,T), RS1000359399 (7:139265393 A>G), RS1000359434 (7:139287350 T>C,G), RS1000374871 (7:139281086 C>G,T), RS1000408570 (7:139298212 A>G)
Disease associations
OMIM: gene MIM:613841 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): autism spectrum disorder (MONDO:0005258)
Orphanet (1): NON RARE IN EUROPE: Autism (Orphanet:106)
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
29 total (human), top 29 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, affects expression, decreases methylation | 7 |
| sodium arsenite | decreases expression, increases abundance, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| FR900359 | increases phosphorylation | 1 |
| TAK-243 | increases sumoylation | 1 |
| geldanamycin | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | increases expression, affects binding, increases activity | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| butyraldehyde | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| NSC 689534 | affects binding, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Arsenic | decreases expression, increases abundance | 1 |
| Copper | affects binding, increases expression | 1 |
| Diethylstilbestrol | increases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Tetrachlorodibenzodioxin | affects expression | 1 |
| Dronabinol | increases expression | 1 |
| Thimerosal | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Urethane | increases expression | 1 |
| p-Chloromercuribenzoic Acid | decreases expression | 1 |
| Magnetite Nanoparticles | increases methylation | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00391261 | PHASE4 | COMPLETED | An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications. |
| NCT01028820 | PHASE4 | COMPLETED | FMRI Brain Activation of Aripiprazole Treatment in 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 |
| NCT02096952 | PHASE4 | COMPLETED | Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD |
| NCT02235467 | PHASE4 | COMPLETED | Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism |
| 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 |
| NCT01302964 | PHASE3 | COMPLETED | Mirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders |
| NCT01706523 | PHASE3 | TERMINATED | Open Label Extension Study of STX209 (Arbaclofen) in Autism Spectrum Disorders |
| NCT01825798 | PHASE3 | COMPLETED | Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD) |
| NCT01972074 | PHASE3 | COMPLETED | Behavioral and Neural Response to Memantine in Adolescents With Autism Spectrum Disorder |
| NCT02985749 | PHASE3 | COMPLETED | A Study of Oxytocin for the Treatment of Social Impairment in Individuals With High Functioning Autism Spectrum Disorder |
| NCT03197922 | PHASE3 | COMPLETED | Treatment of Encopresis in Children With Autism Spectrum Disorders |
| NCT03504917 | PHASE3 | TERMINATED | A Study of Balovaptan in Adults With Autism Spectrum Disorder With a 2-Year Open-Label Extension |
| NCT03553875 | PHASE3 | TERMINATED | Memantine for the Treatment of Social Deficits in Youth With Disorders of Impaired Social Interactions |
| NCT03640156 | PHASE3 | COMPLETED | Modulating Socially Adaptive Mirror System Functioning in Autism by Oxytocin |
| NCT03715153 | PHASE3 | TERMINATED | Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children Aged From 2 to Less Than 7 Years Old With Autism Spectrum Disorder. |
| NCT03715166 | PHASE3 | TERMINATED | Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children and Adolescents Aged From 7 to Less Than 18 Years Old With Autism Spectrum Disorder |
| NCT04233502 | PHASE3 | WITHDRAWN | Efficacy and Safety of Slenyto for Insomnia in Children With ASD |
| NCT04578756 | PHASE3 | COMPLETED | Open-Label, Flexible-dose Study to Evaluate the Long-Term Safety and Tolerability of Cariprazine in the Treatment of Pediatric Participants With Schizophrenia, Bipolar I Disorder, or Autism Spectrum Disorder |
| NCT04623398 | PHASE3 | COMPLETED | Effect of Lithium in Patients With Autism Spectrum Disorder and Phelan-McDermid Syndrome (SHANK3 Haploinsufficiency) |
| NCT04725383 | PHASE3 | TERMINATED | Amitriptyline for Repetitive Behaviors in Autism Spectrum Disorders |
| NCT05212493 | PHASE3 | COMPLETED | The Effects of Medical Cannabis in Children With Autistic Spectrum Disorder |
| NCT05361707 | PHASE3 | UNKNOWN | Evaluating the Effects of Tasimelteon in Individuals With Autism Spectrum Disorder (ASD) and Sleep Disturbances |
| NCT05439616 | PHASE3 | COMPLETED | Study of Cariprazine Oral Capsules or Solution to Assess Adverse Events and Change in Irritability Due to Autism Spectrum Disorder (ASD) in Participants Aged 5-17 Years With ASD |
| NCT06229210 | PHASE3 | RECRUITING | Safety and Tolerability Trial of Lumateperone in Pediatric Patients With Schizophrenia, Bipolar Disorder or Autism Spectrum Disorder |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.