ZMYM6
geneOn this page
Also known as ZNF198L4MYMBuster2ZBED7KIAA1353
Summary
ZMYM6 (zinc finger MYM-type containing 6, HGNC:13050) is a protein-coding gene on chromosome 1p34.3, encoding Zinc finger MYM-type protein 6 (O95789). Plays a role in the regulation of cell morphology and cytoskeletal organization.
Predicted to enable DNA binding activity. Involved in cytoskeleton organization and regulation of cell morphogenesis. Predicted to be located in nucleus.
Source: NCBI Gene 9204 — RefSeq curated summary.
At a glance
- Gene–disease (curated): intellectual disability (Limited, GenCC)
- GWAS associations: 1
- Clinical variants (ClinVar): 170 total
- MANE Select transcript:
NM_007167
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13050 |
| Approved symbol | ZMYM6 |
| Name | zinc finger MYM-type containing 6 |
| Location | 1p34.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ZNF198L4, MYM, Buster2, ZBED7, KIAA1353 |
| Ensembl gene | ENSG00000163867 |
| Ensembl biotype | protein_coding |
| OMIM | 613567 |
| Entrez | 9204 |
Gene structure
Transcript identifiers
Ensembl transcripts: 22 — 17 protein_coding, 5 protein_coding_CDS_not_defined
ENST00000317538, ENST00000357182, ENST00000373333, ENST00000415531, ENST00000460607, ENST00000466345, ENST00000471566, ENST00000472971, ENST00000493328, ENST00000859302, ENST00000859303, ENST00000859304, ENST00000859305, ENST00000859306, ENST00000929015, ENST00000929016, ENST00000929017, ENST00000929018, ENST00000965365, ENST00000965366, ENST00000965367, ENST00000965368
RefSeq mRNA: 1 — MANE Select: NM_007167
NM_007167
CCDS: CCDS387
Canonical transcript exons
ENST00000357182 — 16 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001276682 | 35031815 | 35031945 |
| ENSE00001409042 | 34986165 | 34988935 |
| ENSE00003695435 | 35005132 | 35005272 |
| ENSE00003695598 | 35019353 | 35019602 |
| ENSE00003695635 | 35010447 | 35010597 |
| ENSE00003695850 | 35020383 | 35020467 |
| ENSE00003696663 | 35003968 | 35004005 |
| ENSE00003696838 | 35014697 | 35014888 |
| ENSE00003697227 | 35008752 | 35008924 |
| ENSE00003697383 | 35014988 | 35015162 |
| ENSE00003697990 | 35011890 | 35012005 |
| ENSE00003699132 | 35010758 | 35011036 |
| ENSE00003700337 | 35006951 | 35007098 |
| ENSE00003700427 | 35012431 | 35012581 |
| ENSE00003700713 | 35030547 | 35030713 |
| ENSE00003701231 | 34992234 | 34992387 |
Expression profiles
Bgee: expression breadth ubiquitous, 227 present calls, max score 89.35.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.1685 / max 132.9592, expressed in 1794 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 11657 | 16.1685 | 1794 |
| 11660 | 7.7752 | 1716 |
| 11661 | 4.4218 | 1625 |
| 11659 | 1.1732 | 658 |
| 11656 | 0.2305 | 97 |
| 11658 | 0.0327 | 12 |
Top tissues by expression
245 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| monocyte | CL:0000576 | 89.35 | gold quality |
| adrenal tissue | UBERON:0018303 | 89.06 | gold quality |
| leukocyte | CL:0000738 | 88.99 | gold quality |
| calcaneal tendon | UBERON:0003701 | 86.98 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 85.99 | gold quality |
| granulocyte | CL:0000094 | 85.24 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 83.88 | gold quality |
| mucosa of stomach | UBERON:0001199 | 83.75 | gold quality |
| left adrenal gland | UBERON:0001234 | 83.54 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 83.54 | gold quality |
| bone marrow cell | CL:0002092 | 83.52 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 83.42 | gold quality |
| rectum | UBERON:0001052 | 83.20 | gold quality |
| adrenal gland | UBERON:0002369 | 83.07 | gold quality |
| right adrenal gland | UBERON:0001233 | 83.03 | gold quality |
| spleen | UBERON:0002106 | 82.86 | gold quality |
| body of pancreas | UBERON:0001150 | 82.71 | gold quality |
| metanephros cortex | UBERON:0010533 | 82.56 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 82.46 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 82.24 | gold quality |
| cortical plate | UBERON:0005343 | 82.23 | gold quality |
| left ovary | UBERON:0002119 | 82.16 | gold quality |
| adenohypophysis | UBERON:0002196 | 82.16 | gold quality |
| right ovary | UBERON:0002118 | 82.08 | gold quality |
| vermiform appendix | UBERON:0001154 | 82.05 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 81.76 | gold quality |
| islet of Langerhans | UBERON:0000006 | 81.73 | gold quality |
| adrenal cortex | UBERON:0001235 | 81.70 | gold quality |
| pancreas | UBERON:0001264 | 81.67 | gold quality |
| transverse colon | UBERON:0001157 | 81.63 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 4.71 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
62 targeting ZMYM6, 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-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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-381-3P | 99.93 | 71.87 | 2854 |
| HSA-MIR-6768-5P | 99.92 | 67.36 | 1942 |
| HSA-MIR-300 | 99.92 | 71.76 | 2856 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-4503 | 99.85 | 71.45 | 1869 |
| HSA-MIR-944 | 99.82 | 70.85 | 3042 |
| HSA-MIR-4420 | 99.82 | 70.08 | 1624 |
| HSA-MIR-181B-2-3P | 99.81 | 70.06 | 1646 |
| HSA-MIR-181B-3P | 99.81 | 70.06 | 1646 |
| HSA-MIR-4668-5P | 99.79 | 70.58 | 3782 |
| HSA-MIR-4699-3P | 99.71 | 70.15 | 3142 |
| HSA-MIR-1208 | 99.70 | 68.28 | 1533 |
| HSA-MIR-7154-5P | 99.69 | 70.52 | 1900 |
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Zmym6 | ENSMUSG00000042408 |
| rattus_norvegicus | Zmym6 | ENSRNOG00000013865 |
Paralogs (18): GTF2IRD1 (ENSG00000006704), ZMYM2 (ENSG00000121741), ZMYM5 (ENSG00000132950), THAP12 (ENSG00000137492), ZMYM4 (ENSG00000146463), ZMYM3 (ENSG00000147130), KIAA1958 (ENSG00000165185), GTF2IRD2B (ENSG00000174428), EPM2AIP1 (ENSG00000178567), GTF2IRD2 (ENSG00000196275), ZMYM1 (ENSG00000197056), QRICH1 (ENSG00000198218), FAM200C (ENSG00000221886), FAM200A (ENSG00000221909), SCAND3 (ENSG00000232040), ZBED5 (ENSG00000236287), FAM200B (ENSG00000237765), GTF2I (ENSG00000263001)
Protein
Protein identifiers
Zinc finger MYM-type protein 6 — O95789 (reviewed: O95789)
Alternative names: Transposon-derived Buster2 transposase-like protein, Zinc finger protein 258
All UniProt accessions (2): O95789, X6RCN5
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role in the regulation of cell morphology and cytoskeletal organization.
Subcellular location. Nucleus.
Tissue specificity. Expressed at high levels in heart, skeletal muscle, kidney and liver.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O95789-3 | 3 | yes |
| O95789-2 | 2 | |
| O95789-1 | 1 | |
| O95789-4 | 4 | |
| O95789-5 | 5 |
RefSeq proteins (1): NP_009098* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR010507 | Znf_MYM | Domain |
| IPR011017 | TRASH_dom | Domain |
| IPR012337 | RNaseH-like_sf | Homologous_superfamily |
| IPR051284 | ZnF_MYMT-QRICH1 | Family |
Pfam: PF06467, PF24900
UniProt features (24 total): zinc finger region 8, splice variant 8, sequence variant 2, sequence conflict 2, chain 1, compositionally biased region 1, modified residue 1, region of interest 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O95789-F1 | 69.69 | 0.24 |
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 (1): 397
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 120 (showing top):
GOBP_REGULATION_OF_CELL_MORPHOGENESIS, TGCGCANK_UNKNOWN, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, USF_C, BYSTRYKH_HEMATOPOIESIS_STEM_CELL_AND_BRAIN_QTL_CIS, chr1p34, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, ACEVEDO_LIVER_CANCER_UP, MODULE_207, BURTON_ADIPOGENESIS_11, IVANOVA_HEMATOPOIESIS_STEM_CELL_LONG_TERM, USF2_Q6, MODULE_69
GO Biological Process (2): cytoskeleton organization (GO:0007010), regulation of cell morphogenesis (GO:0022604)
GO Molecular Function (4): DNA binding (GO:0003677), zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (1): nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| organelle organization | 1 |
| cell morphogenesis | 1 |
| regulation of anatomical structure morphogenesis | 1 |
| nucleic acid binding | 1 |
| transition metal ion binding | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
732 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZMYM6 | ZNF841 | Q6ZN19 | 561 |
| ZMYM6 | NECAB3 | Q96P71 | 478 |
| ZMYM6 | CACHD1 | Q5VU97 | 476 |
| ZMYM6 | ZNF354A | O60765 | 474 |
| ZMYM6 | AP4S1 | Q9Y587 | 464 |
| ZMYM6 | TMEM35B | Q8NCS4 | 448 |
| ZMYM6 | RAB30 | Q15771 | 437 |
| ZMYM6 | H3BQ15 | H3BQ15 | 436 |
| ZMYM6 | AMDHD2 | Q9Y303 | 432 |
| ZMYM6 | TEX13B | Q9BXU2 | 429 |
| ZMYM6 | TADA3 | O75528 | 424 |
| ZMYM6 | ZNF436 | Q9C0F3 | 422 |
| ZMYM6 | DMAP1 | Q9NPF5 | 420 |
| ZMYM6 | SETDB2 | Q96T68 | 418 |
| ZMYM6 | PSMB1 | P20618 | 410 |
IntAct
104 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TAB1 | MAP3K7 | psi-mi:“MI:0914”(association) | 0.900 |
| GRB2 | WIPF3 | psi-mi:“MI:0914”(association) | 0.730 |
| DYNLL1 | BLTP3B | psi-mi:“MI:0914”(association) | 0.730 |
| QPRT | PIK3C2A | psi-mi:“MI:0914”(association) | 0.640 |
| SINHCAF | TNRC18 | psi-mi:“MI:0914”(association) | 0.640 |
| DYNLL2 | BLTP3B | psi-mi:“MI:0914”(association) | 0.640 |
| CDA | LIN7A | psi-mi:“MI:0914”(association) | 0.640 |
| ZNF707 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| HAVCR2 | TCAF2 | psi-mi:“MI:0914”(association) | 0.530 |
| EMILIN1 | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| ACOT12 | INPPL1 | psi-mi:“MI:0914”(association) | 0.530 |
| UCHL3 | ZMYM6 | psi-mi:“MI:0914”(association) | 0.530 |
| TIMP2 | ZMYM6 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF18 | ZMYM6 | psi-mi:“MI:0914”(association) | 0.530 |
| TUFM | ZMYM6 | psi-mi:“MI:0914”(association) | 0.530 |
| CCDC89 | ZMYM6 | psi-mi:“MI:0914”(association) | 0.530 |
| FHL5 | ZMYM6 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (132): ZMYM6 (Affinity Capture-MS), ZMYM6 (Affinity Capture-MS), ZMYM6 (Affinity Capture-MS), ZMYM6 (Affinity Capture-MS), ZMYM6 (Affinity Capture-MS), ZMYM6 (Affinity Capture-MS), ZMYM6 (Affinity Capture-MS), ZMYM6 (Affinity Capture-MS), ZMYM6 (Affinity Capture-MS), ZMYM6 (Affinity Capture-MS), ZMYM6 (Affinity Capture-MS), ZMYM6 (Affinity Capture-MS), ZMYM6 (Affinity Capture-MS), ZMYM6 (Affinity Capture-MS), ZMYM6 (Affinity Capture-MS)
ESM2 similar proteins: A0A1L8GR68, A2A791, B2GUN4, E1BP74, E1BZ85, F1QLG5, F7AQ22, O00472, O15164, O15550, O70546, O88974, O95789, P49140, P55265, P70365, Q14202, Q14596, Q15047, Q15788, Q4PJW2, Q5R413, Q5RC94, Q5RDJ2, Q5VZL5, Q64127, Q69Z66, Q6H8Q1, Q6KC51, Q6NXK2, Q6P3Y5, Q6PFK1, Q7Z3K3, Q8BJ34, Q8BL65, Q8BZH4, Q8CHY6, Q8IZD4, Q8TEW8, Q8VIG2
Diamond homologs: A2A791, A6QPH9, O95789, Q0P5J0, Q14202, Q2TAL8, Q3U2E2, Q3UA37, Q4R3D6, Q5RDJ2, Q5SVZ6, Q5VZL5, Q9CU65, Q9JLM4, Q9UBW7, Q9UJ78, A4Z943, A4Z944, A4Z945, P0CF97, Q49AG3, Q4R6P1, Q6R2W3, Q8IZ13, Q8TCP9, P17029, Q4KLI1, Q5R670, Q8BGS3, A1YEP8, A1YEQ3, A1YEV9, A1YFW2, A1YFW6, A1YG26, A1YG48, A1YG60, A1YGJ4, A2T6E3, A2T6V8
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
170 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 125 |
| Likely benign | 17 |
| Benign | 14 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2872 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:34992229:CATA:C | donor_loss | 1.0000 |
| 1:34992230:ATAC:A | donor_loss | 1.0000 |
| 1:34992231:TA:T | donor_loss | 1.0000 |
| 1:34992231:TACCT:T | donor_loss | 1.0000 |
| 1:34992232:ACCT:A | donor_loss | 1.0000 |
| 1:34992233:C:A | donor_loss | 1.0000 |
| 1:34992233:CCTGT:C | donor_gain | 1.0000 |
| 1:35003966:A:AC | donor_gain | 1.0000 |
| 1:35003967:C:CC | donor_gain | 1.0000 |
| 1:35003967:CAT:C | donor_gain | 1.0000 |
| 1:35006945:TTTTA:T | donor_loss | 1.0000 |
| 1:35006946:TTTA:T | donor_loss | 1.0000 |
| 1:35006947:TTAC:T | donor_loss | 1.0000 |
| 1:35006947:TTACC:T | donor_loss | 1.0000 |
| 1:35006948:TACC:T | donor_loss | 1.0000 |
| 1:35006949:A:AG | donor_loss | 1.0000 |
| 1:35006949:A:T | donor_loss | 1.0000 |
| 1:35006950:C:CG | donor_loss | 1.0000 |
| 1:35006950:C:CT | donor_loss | 1.0000 |
| 1:35007098:TCT:T | acceptor_loss | 1.0000 |
| 1:35007099:C:CA | acceptor_loss | 1.0000 |
| 1:35007099:C:CC | acceptor_gain | 1.0000 |
| 1:35007100:T:A | acceptor_loss | 1.0000 |
| 1:35008748:TTAC:T | donor_loss | 1.0000 |
| 1:35008749:TA:T | donor_loss | 1.0000 |
| 1:35008750:ACCTG:A | donor_loss | 1.0000 |
| 1:35008751:C:CT | donor_loss | 1.0000 |
| 1:35008783:CAAT:C | donor_gain | 1.0000 |
| 1:35008920:GCAAA:G | acceptor_gain | 1.0000 |
| 1:35008921:CAAA:C | acceptor_gain | 1.0000 |
AlphaMissense
8734 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:35008797:A:C | F540L | 0.999 |
| 1:35008797:A:T | F540L | 0.999 |
| 1:35008799:A:G | F540L | 0.999 |
| 1:35010525:A:G | C472R | 0.998 |
| 1:35007089:A:G | C559R | 0.997 |
| 1:35008798:A:G | F540S | 0.997 |
| 1:35008865:A:G | C518R | 0.997 |
| 1:35008922:A:G | C499R | 0.997 |
| 1:35010523:A:C | C472W | 0.997 |
| 1:35010524:C:G | C472S | 0.997 |
| 1:35010525:A:T | C472S | 0.997 |
| 1:35007088:C:G | C559S | 0.996 |
| 1:35007089:A:T | C559S | 0.996 |
| 1:35008854:A:C | C521W | 0.996 |
| 1:35008856:A:G | C521R | 0.996 |
| 1:35008863:G:C | C518W | 0.996 |
| 1:35008920:G:C | C499W | 0.996 |
| 1:35008921:C:G | C499S | 0.996 |
| 1:35008922:A:T | C499S | 0.996 |
| 1:35010456:A:G | C495R | 0.996 |
| 1:35010515:C:G | C475S | 0.996 |
| 1:35010516:A:T | C475S | 0.996 |
| 1:35010524:C:T | C472Y | 0.996 |
| 1:35008782:A:C | C545W | 0.995 |
| 1:35008784:A:G | C545R | 0.995 |
| 1:35008796:A:G | C541R | 0.995 |
| 1:35008864:C:G | C518S | 0.995 |
| 1:35008865:A:T | C518S | 0.995 |
| 1:35008921:C:T | C499Y | 0.995 |
| 1:35010454:A:C | C495W | 0.995 |
dbSNP variants (sampled 300 via entrez): RS1000208212 (1:34986780 T>G), RS1000210656 (1:35033843 A>C), RS1000242619 (1:35016926 G>A), RS1000269768 (1:35007118 C>A,T), RS1000274000 (1:35030971 G>A,C), RS1000276884 (1:34986395 T>C), RS1000277956 (1:34996563 CAA>C), RS1000376889 (1:35000169 C>G), RS1000568286 (1:35030309 G>A,C,T), RS1000601854 (1:35010207 G>T), RS1000631710 (1:35018380 T>C,G), RS1000720938 (1:35030703 T>C), RS1000815710 (1:35005580 A>G), RS1000878339 (1:35005098 T>C), RS1000878385 (1:34998234 T>C)
Disease associations
OMIM: gene MIM:613567 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| intellectual disability | Limited | Autosomal dominant |
Mondo (1): intellectual disability (MONDO:0001071)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004751_3 | Serum uric acid levels in response to allopurinol in gout | 4.000000e-07 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004761 | uric acid measurement |
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
33 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, affects expression, decreases methylation, increases expression | 6 |
| trichostatin A | affects cotreatment, decreases expression, increases expression | 3 |
| Tretinoin | decreases expression, increases expression | 2 |
| Cyclosporine | increases expression | 2 |
| TAK-243 | affects sumoylation | 1 |
| dicrotophos | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| bisphenol A | affects cotreatment, affects expression | 1 |
| arsenite | affects expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| AM 251 | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression, affects expression | 1 |
| belinostat | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression, affects expression | 1 |
| Decitabine | affects expression | 1 |
| Vorinostat | increases expression | 1 |
| Vehicle Emissions | increases abundance, increases expression | 1 |
| Cisplatin | affects expression | 1 |
| Dexamethasone | affects cotreatment, affects expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Indomethacin | affects cotreatment, affects expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Quercetin | decreases expression | 1 |
| Testosterone | increases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, affects 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
- Associated diseases: intellectual disability
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): intellectual disability