TBRG1
gene geneOn this page
Also known as FLJ14621TB-5NIAM
Summary
TBRG1 (transforming growth factor beta regulator 1, HGNC:29551) is a protein-coding gene on chromosome 11q24.2, encoding Transforming growth factor beta regulator 1 (Q3YBR2). Acts as a growth inhibitor.
Involved in several processes, including DNA replication; protein localization to nucleoplasm; and protein stabilization. Located in nucleoplasm.
Source: NCBI Gene 84897 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 73 total — 1 likely-pathogenic
- MANE Select transcript:
NM_032811
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29551 |
| Approved symbol | TBRG1 |
| Name | transforming growth factor beta regulator 1 |
| Location | 11q24.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ14621, TB-5, NIAM |
| Ensembl gene | ENSG00000154144 |
| Ensembl biotype | protein_coding |
| OMIM | 610614 |
| Entrez | 84897 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 6 protein_coding, 3 nonsense_mediated_decay, 3 retained_intron, 2 protein_coding_CDS_not_defined
ENST00000284290, ENST00000438907, ENST00000441174, ENST00000452080, ENST00000473629, ENST00000491010, ENST00000529543, ENST00000530731, ENST00000531033, ENST00000531667, ENST00000900019, ENST00000900020, ENST00000934207, ENST00000960171
RefSeq mRNA: 1 — MANE Select: NM_032811
NM_032811
CCDS: CCDS8448
Canonical transcript exons
ENST00000441174 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001465426 | 124626473 | 124626609 |
| ENSE00001658286 | 124632093 | 124635926 |
| ENSE00002142749 | 124622864 | 124623233 |
| ENSE00003481494 | 124630388 | 124630485 |
| ENSE00003550064 | 124624931 | 124625001 |
| ENSE00003589076 | 124626904 | 124627050 |
| ENSE00003624242 | 124631275 | 124631417 |
| ENSE00003656253 | 124625671 | 124625903 |
| ENSE00003660299 | 124630745 | 124630855 |
Expression profiles
Bgee: expression breadth ubiquitous, 250 present calls, max score 95.38.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 30.1758 / max 258.3651, expressed in 1822 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 117377 | 27.9501 | 1821 |
| 117376 | 1.9507 | 1211 |
| 117378 | 0.2750 | 104 |
Top tissues by expression
253 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| granulocyte | CL:0000094 | 95.38 | gold quality |
| mucosa of stomach | UBERON:0001199 | 95.04 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 94.38 | gold quality |
| rectum | UBERON:0001052 | 94.37 | gold quality |
| monocyte | CL:0000576 | 94.24 | gold quality |
| leukocyte | CL:0000738 | 93.95 | gold quality |
| right lung | UBERON:0002167 | 93.76 | gold quality |
| vermiform appendix | UBERON:0001154 | 93.65 | gold quality |
| body of pancreas | UBERON:0001150 | 93.63 | gold quality |
| spleen | UBERON:0002106 | 93.59 | gold quality |
| tibia | UBERON:0000979 | 93.51 | gold quality |
| prefrontal cortex | UBERON:0000451 | 93.42 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 93.38 | gold quality |
| body of stomach | UBERON:0001161 | 93.27 | gold quality |
| minor salivary gland | UBERON:0001830 | 93.18 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 93.12 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 93.10 | gold quality |
| small intestine | UBERON:0002108 | 92.99 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 92.93 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 92.83 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 92.81 | gold quality |
| transverse colon | UBERON:0001157 | 92.78 | gold quality |
| thoracic aorta | UBERON:0001515 | 92.78 | gold quality |
| ascending aorta | UBERON:0001496 | 92.75 | gold quality |
| left adrenal gland | UBERON:0001234 | 92.73 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 92.60 | gold quality |
| right lobe of liver | UBERON:0001114 | 92.44 | gold quality |
| right adrenal gland | UBERON:0001233 | 92.39 | gold quality |
| thyroid gland | UBERON:0002046 | 92.36 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 92.33 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
115 targeting TBRG1, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| 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-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-3134 | 100.00 | 66.43 | 777 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-485-3P | 99.98 | 70.68 | 1585 |
| HSA-MIR-539-3P | 99.98 | 70.74 | 1616 |
| HSA-MIR-1229-3P | 99.97 | 66.49 | 906 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-146A-5P | 99.96 | 68.93 | 988 |
| HSA-MIR-146B-5P | 99.96 | 69.13 | 977 |
| HSA-MIR-101-3P | 99.94 | 75.03 | 2230 |
| HSA-MIR-7153-5P | 99.94 | 68.89 | 1006 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
Literature-anchored findings (GeneRIF, showing 5)
- novel protein with tumor suppressor-like behaviors and functional links to ARF-MDM2-p53 signaling (PMID:17110379)
- NIAM is a nuclear interactor of ARF and Mdm2 (PMID:18582208)
- Sructure of a fragment of TBRG1 was shown to encompasses two motifs. The FYRN and FYRC regions each form part of a single folded module (the FYR domain), which adopts a novel alpha + beta fold. (PMID:20506279)
- NIAM regulates 2 critical pathways that control p53 function and are altered in human cancers, implying an important role for NIAM in tumorigenesis. (PMID:24621507)
- In primary B-cell lymphoma NIAM-positive cases have significant lower levels of miR-155 as compared to NIAM-negative cases, suggesting that NIAM is regulated by miR-155 in primary B-cell lymphoma. (PMID:26497687)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tbrg1 | ENSDARG00000074996 |
| mus_musculus | Tbrg1 | ENSMUSG00000011114 |
| rattus_norvegicus | Tbrg1 | ENSRNOG00000023850 |
| rattus_norvegicus | LOC100911055 | ENSRNOG00000033891 |
| drosophila_melanogaster | CG31111 | FBGN0051111 |
Protein
Protein identifiers
Transforming growth factor beta regulator 1 — Q3YBR2 (reviewed: Q3YBR2)
Alternative names: Nuclear interactor of ARF and Mdm2
All UniProt accessions (4): Q3YBR2, E9PI10, E9PK87, F8W6N5
UniProt curated annotations — full annotation on UniProt →
Function. Acts as a growth inhibitor. Can activate p53/TP53, causes G1 arrest and collaborates with CDKN2A to restrict proliferation, but does not require either protein to inhibit DNA synthesis. Redistributes CDKN2A into the nucleoplasm. Involved in maintaining chromosomal stability.
Subunit / interactions. Interacts with CDKN2A and MDM2.
Subcellular location. Nucleus.
Tissue specificity. Widely expressed at low levels in most tissues, with highest levels in pancreas, lung and liver. Expression is decreased in primary tumors including lung, liver, breast, pancreas and kidney carcinomas, chronic lymphocytic leukemia and diffuse large B-cell lymphoma.
Post-translational modifications. Ubiquitinated; mediated by MDM2 and leading to its subsequent proteasomal degradation.
Similarity. Belongs to the TBRG1 family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q3YBR2-1 | 1 | yes |
| Q3YBR2-2 | 2 | |
| Q3YBR2-3 | 3 |
RefSeq proteins (1): NP_116200* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003888 | FYrich_N | Conserved_site |
| IPR003889 | FYrich_C | Conserved_site |
| IPR040092 | TBRG1 | Family |
Pfam: PF05964, PF05965
UniProt features (23 total): strand 6, helix 6, domain 2, region of interest 2, modified residue 2, splice variant 2, initiator methionine 1, chain 1, sequence conflict 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2WZO | X-RAY DIFFRACTION | 1.6 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q3YBR2-F1 | 72.57 | 0.45 |
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 (2): 2, 10
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 112 (showing top):
GOBP_PROTEIN_STABILIZATION, GOBP_REGULATION_OF_CELL_CYCLE, GOBP_REGULATION_OF_PROTEIN_STABILITY, NKX22_01, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, GOBP_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOBP_PROTEIN_LOCALIZATION_TO_NUCLEUS, GOBP_DNA_REPLICATION, MARSON_BOUND_BY_FOXP3_STIMULATED, MARSON_BOUND_BY_FOXP3_UNSTIMULATED, GOBP_DNA_METABOLIC_PROCESS, chr11q24, GINESTIER_BREAST_CANCER_20Q13_AMPLIFICATION_DN, GOBP_PROTEIN_LOCALIZATION_TO_NUCLEOPLASM, GSE14415_INDUCED_TREG_VS_TCONV_DN
GO Biological Process (5): DNA replication (GO:0006260), negative regulation of cell population proliferation (GO:0008285), protein stabilization (GO:0050821), regulation of cell cycle (GO:0051726), protein localization to nucleoplasm (GO:1990173)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (2): nucleus (GO:0005634), nucleoplasm (GO:0005654)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| DNA metabolic process | 1 |
| DNA biosynthetic process | 1 |
| cell population proliferation | 1 |
| regulation of cell population proliferation | 1 |
| negative regulation of cellular process | 1 |
| regulation of protein stability | 1 |
| cell cycle | 1 |
| regulation of cellular process | 1 |
| protein localization to nucleus | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1182 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TBRG1 | RABL6 | Q3YEC7 | 774 |
| TBRG1 | ZNF740 | Q8NDX6 | 626 |
| TBRG1 | REEP5 | Q00765 | 624 |
| TBRG1 | ADAMTSL2 | Q86TH1 | 599 |
| TBRG1 | TMSB10 | P13472 | 578 |
| TBRG1 | FBN1 | P35555 | 576 |
| TBRG1 | CDKN2A | P42771 | 524 |
| TBRG1 | ADAMTS10 | Q9H324 | 506 |
| TBRG1 | GARNL3 | Q5VVW2 | 480 |
| TBRG1 | INO80E | Q8NBZ0 | 474 |
| TBRG1 | CARNMT1 | Q8N4J0 | 444 |
| TBRG1 | TSKU | Q8WUA8 | 439 |
| TBRG1 | GDPD5 | Q8WTR4 | 423 |
| TBRG1 | GRAMD1B | Q3KR37 | 421 |
| TBRG1 | TGFB1 | P01137 | 419 |
IntAct
37 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TBRG1 | ZMYND19 | psi-mi:“MI:0915”(physical association) | 0.670 |
| TBRG1 | SMYD1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TBRG1 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| TBRG1 | PMP22 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DNALI1 | TBRG1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KLF11 | TBRG1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TBRG1 | HSPD1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TBRG1 | SNRPB | psi-mi:“MI:0915”(physical association) | 0.400 |
| TBRG1 | YTHDC1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| Ruvbl1 | AAR2 | psi-mi:“MI:0914”(association) | 0.350 |
| RUVBL2 | ASDURF | psi-mi:“MI:0914”(association) | 0.350 |
| TBRG1 | APOD | psi-mi:“MI:0914”(association) | 0.350 |
| SMYD1 | TBRG1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| ZMYND19 | TBRG1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TBRG1 | psi-mi:“MI:0915”(physical association) | 0.000 | |
| TBRG1 | fadB/acbP | psi-mi:“MI:0915”(physical association) | 0.000 |
| TBRG1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (23): TBRG1 (Two-hybrid), TBRG1 (Two-hybrid), TBRG1 (Two-hybrid), INO80E (Two-hybrid), TBRG1 (Affinity Capture-MS), TBRG1 (Affinity Capture-MS), TBRG1 (Affinity Capture-MS), TBRG1 (PCA), TBRG1 (Two-hybrid), ZMYND19 (Two-hybrid), TBRG1 (Proximity Label-MS), TBRG1 (Proximity Label-MS), YTHDC1 (Proximity Label-MS), TBRG1 (Affinity Capture-MS), UBR3 (Affinity Capture-MS)
ESM2 similar proteins: A0M8S4, A1L0Z0, B5DEB9, B5DF21, F5HSE3, O95155, P97496, Q07DX4, Q07DY4, Q07E41, Q0IHW3, Q108T9, Q15648, Q172G3, Q1LUT1, Q1LVF3, Q26622, Q2IBA2, Q2IBE6, Q2IBF7, Q2QLB3, Q2QLF8, Q32N92, Q3YBR2, Q5FWP2, Q5PRF9, Q5RES4, Q6DD45, Q6INP8, Q6IRB8, Q6IZA3, Q6P4L9, Q6P4R8, Q6PIJ4, Q7ZXT3, Q80TZ3, Q80XS6, Q8CBY1, Q8INR6, Q8MX88
Diamond homologs: Q3UB74, Q3YBR2, Q5PQK8, Q66IH2, Q6K431
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
73 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 61 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 996584 | NM_032811.3(TBRG1):c.628G>A (p.Ala210Thr) | Likely pathogenic |
SpliceAI
1390 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:124623179:G:GT | donor_gain | 1.0000 |
| 11:124623230:GTTT:G | donor_gain | 1.0000 |
| 11:124623234:G:GG | donor_gain | 1.0000 |
| 11:124624902:T:G | acceptor_gain | 1.0000 |
| 11:124624918:T:G | acceptor_gain | 1.0000 |
| 11:124630386:A:AG | acceptor_gain | 1.0000 |
| 11:124630386:AGTTT:A | acceptor_gain | 1.0000 |
| 11:124630387:G:GA | acceptor_gain | 1.0000 |
| 11:124630387:GTTT:G | acceptor_gain | 1.0000 |
| 11:124630387:GTTTG:G | acceptor_gain | 1.0000 |
| 11:124630468:GACTA:G | donor_gain | 1.0000 |
| 11:124630486:G:GG | donor_gain | 1.0000 |
| 11:124630856:G:GG | donor_gain | 1.0000 |
| 11:124631270:T:TA | acceptor_gain | 1.0000 |
| 11:124631271:GCAGT:G | acceptor_loss | 1.0000 |
| 11:124631272:CAGT:C | acceptor_loss | 1.0000 |
| 11:124631273:A:AC | acceptor_loss | 1.0000 |
| 11:124631273:A:AG | acceptor_gain | 1.0000 |
| 11:124631274:G:A | acceptor_loss | 1.0000 |
| 11:124631274:G:GC | acceptor_gain | 1.0000 |
| 11:124631274:GTT:G | acceptor_gain | 1.0000 |
| 11:124631274:GTTAC:G | acceptor_gain | 1.0000 |
| 11:124623191:G:GT | donor_gain | 0.9900 |
| 11:124623232:TT:T | donor_gain | 0.9900 |
| 11:124623232:TTGTG:T | donor_loss | 0.9900 |
| 11:124623233:TG:T | donor_loss | 0.9900 |
| 11:124623234:G:GA | donor_loss | 0.9900 |
| 11:124623235:T:A | donor_loss | 0.9900 |
| 11:124623236:G:GC | donor_loss | 0.9900 |
| 11:124623238:G:C | donor_loss | 0.9900 |
AlphaMissense
2682 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:124624940:G:C | A54P | 0.999 |
| 11:124625688:T:C | L80P | 0.998 |
| 11:124626925:T:C | F205L | 0.998 |
| 11:124626927:T:A | F205L | 0.998 |
| 11:124626927:T:G | F205L | 0.998 |
| 11:124630792:G:A | G295E | 0.998 |
| 11:124623205:T:C | L41P | 0.997 |
| 11:124623217:C:A | A45D | 0.997 |
| 11:124624937:G:C | A53P | 0.997 |
| 11:124626605:G:A | G196E | 0.997 |
| 11:124626964:A:C | S218R | 0.997 |
| 11:124626966:T:A | S218R | 0.997 |
| 11:124626966:T:G | S218R | 0.997 |
| 11:124626971:G:C | R220P | 0.997 |
| 11:124630819:T:C | L304P | 0.997 |
| 11:124623216:G:C | A45P | 0.996 |
| 11:124624936:T:A | N52K | 0.996 |
| 11:124624936:T:G | N52K | 0.996 |
| 11:124624941:C:A | A54D | 0.996 |
| 11:124624958:G:C | A60P | 0.996 |
| 11:124624965:T:C | L62P | 0.996 |
| 11:124624999:A:C | R73S | 0.996 |
| 11:124624999:A:T | R73S | 0.996 |
| 11:124626604:G:A | G196R | 0.996 |
| 11:124626604:G:C | G196R | 0.996 |
| 11:124626605:G:T | G196V | 0.996 |
| 11:124627018:T:C | C236R | 0.996 |
| 11:124630388:T:C | F247L | 0.996 |
| 11:124630390:T:A | F247L | 0.996 |
| 11:124630390:T:G | F247L | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000090925 (11:124630680 T>C), RS1000141555 (11:124624184 A>G), RS1000151876 (11:124634220 G>A), RS1000719933 (11:124632927 C>G), RS1000751215 (11:124632520 T>C), RS1001508638 (11:124635685 A>C,G,T), RS1001562395 (11:124635856 G>A), RS1001717680 (11:124628962 A>G), RS1002150573 (11:124621695 C>G,T), RS1002265625 (11:124635947 T>C), RS1002453009 (11:124627397 G>C), RS1002639251 (11:124636210 C>A), RS1002726644 (11:124629221 C>T), RS1003077726 (11:124622771 G>C), RS1003518170 (11:124632650 A>G)
Disease associations
OMIM: gene MIM:610614 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): intellectual disability (MONDO:0001071)
Orphanet (1): NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006865_13 | Bipolar disorder | 6.000000e-06 |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D008607 | Intellectual Disability | C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases expression, decreases methylation, affects cotreatment, increases expression | 3 |
| Lead | affects expression, increases expression | 2 |
| Cyclosporine | increases expression | 2 |
| FR900359 | increases phosphorylation | 1 |
| methylmercuric chloride | decreases expression, increases expression | 1 |
| 2-methyl-4-isothiazolin-3-one | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| pentabromodiphenyl ether | increases expression | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| 14-deoxy-11,12-didehydroandrographolide | increases expression | 1 |
| NSC 689534 | affects binding, increases expression | 1 |
| 3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Caffeine | increases phosphorylation | 1 |
| Carbamazepine | affects expression | 1 |
| Copper | affects binding, increases expression | 1 |
| Dimethyl Sulfoxide | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Hydralazine | affects cotreatment, increases expression | 1 |
| Ketoconazole | increases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Dihydrotestosterone | increases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Cadmium Chloride | increases expression | 1 |
Clinical trials (associated diseases)
197 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT05657860 | PHASE4 | COMPLETED | Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome |
| NCT05744479 | PHASE4 | RECRUITING | Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability |
| NCT06107829 | PHASE4 | WITHDRAWN | Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities |
| NCT06997198 | PHASE4 | NOT_YET_RECRUITING | Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities |
| NCT02270736 | PHASE3 | COMPLETED | Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability |
| NCT02304302 | PHASE2 | COMPLETED | Down Syndrome Memantine Follow-up Study |
| NCT03862950 | PHASE2 | COMPLETED | A Trial of Metformin in Individuals With Fragile X Syndrome (Met) |
| NCT04529226 | PHASE2 | UNKNOWN | Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis |
| NCT04821856 | PHASE2 | COMPLETED | Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability |
| NCT05273320 | PHASE1 | COMPLETED | Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities |
| NCT05301361 | PHASE1 | ENROLLING_BY_INVITATION | Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities |
| NCT06016764 | PHASE1 | COMPLETED | Use of MRI and cTBS for Catatonia in Autism |
| NCT06586827 | PHASE1 | COMPLETED | Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD |
| NCT07531940 | PHASE1 | NOT_YET_RECRUITING | Escalating Doses of Memantine in Down Syndrome (MEDS-123) |
| NCT03479476 | PHASE2/PHASE3 | COMPLETED | A Trial of Metformin in Individuals With Fragile X Syndrome |
| NCT02616796 | PHASE1/PHASE2 | COMPLETED | Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome |
| NCT06860672 | EARLY_PHASE1 | RECRUITING | Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation |
| NCT00597948 | Not specified | COMPLETED | Healthy Lifestyles for People With Intellectual Disabilities |
| NCT01087320 | Not specified | RECRUITING | Genome Medical Sequencing for Gene Discovery |
| NCT01652963 | Not specified | UNKNOWN | Picture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills |
| NCT01695395 | Not specified | COMPLETED | Mental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder |
| NCT01867554 | Not specified | COMPLETED | Research and Characterization of New Genes Involved in Intellectual Disability |
| NCT01915381 | Not specified | COMPLETED | Improving Adherence Healthy Lifestyle With a Smartphone Application Based on Adults With Intellectual Disabilities |
| NCT01988623 | Not specified | COMPLETED | Pivotal Response Treatment for Individuals With Intellectual Disabilities |
| NCT02099773 | Not specified | COMPLETED | Support Staff-client Interactions With Augmentative and Alternative Communication |
| NCT02136849 | Not specified | COMPLETED | Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic |
| NCT02225041 | Not specified | COMPLETED | Sedation Strategy and Cognitive Outcome After Critical Illness in Early Childhood |
| NCT02414438 | Not specified | COMPLETED | Establishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study |
| NCT02451761 | Not specified | COMPLETED | Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability |
| NCT02461420 | Not specified | ACTIVE_NOT_RECRUITING | Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome |
| NCT02461459 | Not specified | ACTIVE_NOT_RECRUITING | Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC) |
| NCT02486081 | Not specified | COMPLETED | Development and Application-Smart Football for Movement Evaluation and Training in the Special Education Population |
| NCT02504502 | Not specified | COMPLETED | Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients |
| NCT02513277 | Not specified | COMPLETED | Diabetes Screening & Prevention for People With Learning (Intellectual) Disabilities:STOP Diabetes Study |
| NCT02561754 | Not specified | COMPLETED | Weight Management for Adolescents With IDD |
| NCT02591446 | Not specified | COMPLETED | Transcranial Magnetic Stimulation Studies in Autism Spectrum Disorders |
| NCT02714868 | Not specified | COMPLETED | Evaluation of Project TEAM (Teens Making Environmental and Activity Modifications) |
| NCT02721394 | Not specified | UNKNOWN | FCT With Young Children With ID in the UK: A Feasibility Project V.1 |
| NCT02746614 | Not specified | COMPLETED | Psychomotor Therapy Effects in Adaptive Behavior and Motor Proficiency in Intellectual Disability |
| NCT02836405 | Not specified | COMPLETED | TMS for the Investigation of Brain Plasticity in Autism Spectrum Disorders |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.