KLHL4
gene geneOn this page
Also known as KIAA1687DKELCHLKHL4
Summary
KLHL4 (kelch like family member 4, HGNC:6355) is a protein-coding gene on chromosome Xq21.31, encoding Kelch-like protein 4 (Q9C0H6).
This gene encodes a member of the kelch family of proteins, which are characterized by kelch repeat motifs and a POZ/BTB protein-binding domain. It is thought that kelch repeats are actin binding domains. However, the specific function of this protein has not been determined. Alternative splicing of this gene results in two transcript variants encoding different isoforms.
Source: NCBI Gene 56062 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 124 total — 1 pathogenic
- MANE Select transcript:
NM_019117
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:6355 |
| Approved symbol | KLHL4 |
| Name | kelch like family member 4 |
| Location | Xq21.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1687, DKELCHL, KHL4 |
| Ensembl gene | ENSG00000102271 |
| Ensembl biotype | protein_coding |
| OMIM | 300348 |
| Entrez | 56062 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 4 protein_coding, 1 nonsense_mediated_decay
ENST00000373114, ENST00000373119, ENST00000652270, ENST00000858462, ENST00000858463
RefSeq mRNA: 2 — MANE Select: NM_019117
NM_019117, NM_057162
CCDS: CCDS14456, CCDS14457
Canonical transcript exons
ENST00000373119 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000673263 | 87614434 | 87614570 |
| ENSE00000673264 | 87617932 | 87618128 |
| ENSE00000673265 | 87622211 | 87622423 |
| ENSE00000673266 | 87625610 | 87625796 |
| ENSE00000673267 | 87632210 | 87632434 |
| ENSE00000673268 | 87633749 | 87633911 |
| ENSE00000673269 | 87635563 | 87635775 |
| ENSE00000673270 | 87664764 | 87664935 |
| ENSE00000866853 | 87613877 | 87614044 |
| ENSE00001124632 | 87666475 | 87670050 |
| ENSE00001459555 | 87517802 | 87518315 |
Expression profiles
Bgee: expression breadth ubiquitous, 170 present calls, max score 92.37.
FANTOM5 (CAGE): breadth broad, TPM avg 4.8800 / max 244.0114, expressed in 774 samples.
FANTOM5 promoters (16 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 196858 | 1.0167 | 402 |
| 196863 | 0.9089 | 328 |
| 196864 | 0.5143 | 193 |
| 196859 | 0.4721 | 196 |
| 196857 | 0.3999 | 207 |
| 196860 | 0.2551 | 98 |
| 196865 | 0.2508 | 119 |
| 196862 | 0.2439 | 109 |
| 196861 | 0.2139 | 83 |
| 196854 | 0.1950 | 89 |
Top tissues by expression
289 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right adrenal gland cortex | UBERON:0035827 | 92.37 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 90.30 | gold quality |
| left adrenal gland | UBERON:0001234 | 89.81 | gold quality |
| adrenal cortex | UBERON:0001235 | 89.61 | gold quality |
| right adrenal gland | UBERON:0001233 | 89.59 | gold quality |
| adrenal gland | UBERON:0002369 | 87.56 | gold quality |
| corpus callosum | UBERON:0002336 | 84.21 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 81.79 | gold quality |
| spinal cord | UBERON:0002240 | 79.49 | gold quality |
| adrenal tissue | UBERON:0018303 | 79.34 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 76.70 | gold quality |
| prefrontal cortex | UBERON:0000451 | 75.31 | gold quality |
| left uterine tube | UBERON:0001303 | 72.47 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 72.17 | gold quality |
| right ovary | UBERON:0002118 | 71.93 | gold quality |
| amygdala | UBERON:0001876 | 71.61 | gold quality |
| left ovary | UBERON:0002119 | 70.73 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 70.48 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 70.41 | gold quality |
| frontal cortex | UBERON:0001870 | 70.31 | gold quality |
| ovary | UBERON:0000992 | 70.11 | gold quality |
| Ammon’s horn | UBERON:0001954 | 69.89 | gold quality |
| neocortex | UBERON:0001950 | 69.72 | gold quality |
| substantia nigra | UBERON:0002038 | 69.20 | gold quality |
| cingulate cortex | UBERON:0003027 | 68.70 | gold quality |
| cerebral cortex | UBERON:0000956 | 68.58 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 68.53 | gold quality |
| putamen | UBERON:0001874 | 68.30 | gold quality |
| telencephalon | UBERON:0001893 | 68.29 | gold quality |
| midbrain | UBERON:0001891 | 68.02 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-130148 | yes | 5.03 |
| E-ANND-3 | no | 5.01 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
147 targeting KLHL4, 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-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-196A-5P | 100.00 | 68.16 | 684 |
| HSA-MIR-196B-5P | 100.00 | 68.16 | 681 |
| HSA-MIR-10401-5P | 99.99 | 65.79 | 948 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-96-5P | 99.95 | 72.80 | 2140 |
| HSA-MIR-141-3P | 99.94 | 72.79 | 2421 |
| HSA-MIR-200A-3P | 99.94 | 72.68 | 2420 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-4760-3P | 99.93 | 70.50 | 2385 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
Literature-anchored findings (GeneRIF, showing 1)
- KLHL4, a novel p53 target gene, inhibits cell proliferation by activating p21(WAF/CDKN1A). (PMID:32753315)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | klhl4 | ENSDARG00000016531 |
| mus_musculus | Klhl4 | ENSMUSG00000025597 |
| rattus_norvegicus | Klhl4 | ENSRNOG00000005215 |
Paralogs (54): KLHL13 (ENSG00000003096), KLHL20 (ENSG00000076321), KEAP1 (ENSG00000079999), KLHL42 (ENSG00000087448), KLHL22 (ENSG00000099910), KLHL2 (ENSG00000109466), KLHL5 (ENSG00000109790), BACH2 (ENSG00000112182), KLHL18 (ENSG00000114648), KLHL24 (ENSG00000114796), IVNS1ABP (ENSG00000116679), KLHL12 (ENSG00000117153), KLHL29 (ENSG00000119771), KBTBD7 (ENSG00000120696), KLHL7 (ENSG00000122550), KLHL31 (ENSG00000124743), KLHDC7B (ENSG00000130487), KLHL36 (ENSG00000135686), KLHL8 (ENSG00000145332), KLHL3 (ENSG00000146021), KLHL35 (ENSG00000149243), KLHL1 (ENSG00000150361), BACH1 (ENSG00000156273), KLHL40 (ENSG00000157119), KLHL10 (ENSG00000161594), KLHL21 (ENSG00000162413), KLHDC8A (ENSG00000162873), KBTBD8 (ENSG00000163376), KBTBD6 (ENSG00000165572), KLHL26 (ENSG00000167487), KLHL30 (ENSG00000168427), KBTBD2 (ENSG00000170852), KLHL6 (ENSG00000172578), KLHL15 (ENSG00000174010), KLHL38 (ENSG00000175946), KBTBD11 (ENSG00000176595), KLHDC7A (ENSG00000179023), KLHL28 (ENSG00000179454), KBTBD3 (ENSG00000182359), KLHL33 (ENSG00000185271)
Protein
Protein identifiers
Kelch-like protein 4 — Q9C0H6 (reviewed: Q9C0H6)
All UniProt accessions (2): Q9C0H6, A5PKX1
UniProt curated annotations — full annotation on UniProt →
Subcellular location. Cytoplasm. Cytoskeleton.
Tissue specificity. Expressed in adult fibroblasts and in a range of fetal tissues including tongue, palate, and mandible.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9C0H6-1 | 1 | yes |
| Q9C0H6-2 | 2, KLHL4c |
RefSeq proteins (2): NP_061990, NP_476503 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000210 | BTB/POZ_dom | Domain |
| IPR006652 | Kelch_1 | Repeat |
| IPR011333 | SKP1/BTB/POZ_sf | Homologous_superfamily |
| IPR011705 | BACK | Domain |
| IPR015915 | Kelch-typ_b-propeller | Homologous_superfamily |
| IPR056737 | Beta-prop_ATRN-MKLN-like | Domain |
Pfam: PF00651, PF07707, PF24981
UniProt features (10 total): repeat 6, chain 1, domain 1, region of interest 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9C0H6-F1 | 80.37 | 0.68 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 155 (showing top):
RNGTGGGC_UNKNOWN, MODULE_255, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GAUSSMANN_MLL_AF4_FUSION_TARGETS_C_DN, MODULE_317, ZHAN_MULTIPLE_MYELOMA_CD1_UP, ATTACAT_MIR3803P, GOMF_ACTIN_BINDING, GOBP_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS, GOBP_PROTEIN_CATABOLIC_PROCESS, ZHAN_MULTIPLE_MYELOMA_CD1_VS_CD2_UP, TGGAAA_NFAT_Q4_01, GOCC_TRANSFERASE_COMPLEX, BENPORATH_OCT4_TARGETS, TAATTA_CHX10_01
GO Biological Process (1): proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)
GO Molecular Function (3): actin binding (GO:0003779), ubiquitin-like ligase-substrate adaptor activity (GO:1990756), protein binding (GO:0005515)
GO Cellular Component (7): cytoplasm (GO:0005737), cilium (GO:0005929), microtubule cytoskeleton (GO:0015630), Cul3-RING ubiquitin ligase complex (GO:0031463), centriolar satellite (GO:0034451), ciliary basal body (GO:0036064), cytoskeleton (GO:0005856)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| ubiquitin-dependent protein catabolic process | 1 |
| proteasomal protein catabolic process | 1 |
| cytoskeletal protein binding | 1 |
| enzyme-substrate adaptor activity | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| intraciliary transport particle | 1 |
| membrane-bounded organelle | 1 |
| plasma membrane bounded cell projection | 1 |
| cytoskeleton | 1 |
| cullin-RING ubiquitin ligase complex | 1 |
| centrosome | 1 |
| microtubule organizing center | 1 |
| cilium | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
678 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| KLHL4 | CPXCR1 | Q8N123 | 695 |
| KLHL4 | SATL1 | Q86VE3 | 590 |
| KLHL4 | DACH2 | Q96NX9 | 489 |
| KLHL4 | SH3BGRL | O75368 | 431 |
| KLHL4 | OR4N5 | Q8IXE1 | 423 |
| KLHL4 | APOOL | Q6UXV4 | 419 |
| KLHL4 | OR4K14 | Q8NGD5 | 399 |
| KLHL4 | GRPR | P30550 | 398 |
| KLHL4 | POF1B | Q8WVV4 | 392 |
| KLHL4 | DHRSX | Q8N5I4 | 388 |
| KLHL4 | PCDH11X | Q9BZA7 | 387 |
| KLHL4 | PUDP | Q08623 | 387 |
| KLHL4 | CYLC1 | P35663 | 384 |
| KLHL4 | PLCXD1 | Q9NUJ7 | 384 |
| KLHL4 | GTPBP6 | O43824 | 383 |
IntAct
9 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| KLHL1 | CUL3 | psi-mi:“MI:0914”(association) | 0.560 |
| KLHL4 | NUDCD3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| NUDCD2 | KLHL4 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ORF21 | USP9Y | psi-mi:“MI:0914”(association) | 0.350 |
| CUL3 | PXDNL | psi-mi:“MI:0914”(association) | 0.350 |
| KLHL4 | CUL1 | psi-mi:“MI:0914”(association) | 0.350 |
| DISC1 | KLHL4 | psi-mi:“MI:0915”(physical association) | 0.000 |
| DSCAM | KLHL4 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (48): KLHL4 (Affinity Capture-MS), KLHL4 (PCA), TP53 (Affinity Capture-Western), KLHL4 (Affinity Capture-Western), KLHL4 (Affinity Capture-Western), KLHL4 (Two-hybrid), KLHL4 (Cross-Linking-MS (XL-MS)), KLHL4 (Affinity Capture-MS), KLHL4 (Affinity Capture-Western), CUL3 (Affinity Capture-Western), KLHL4 (Affinity Capture-Western), KLHL4 (Affinity Capture-MS), CUL3 (Affinity Capture-MS), KLHL5 (Affinity Capture-MS), KLHL1 (Affinity Capture-MS)
ESM2 similar proteins: A0A2R8Q1W5, A6QQY2, B0WWP2, B3NDN0, B4HIK1, B4L0G9, B4LIG6, B4PD06, D3Z8N4, E0CZ16, E1B932, E7F6F9, E9Q4F2, F1LZ52, O94889, P28575, P57790, P59280, Q08DK3, Q14145, Q16RL8, Q2T9Z7, Q53G59, Q5R774, Q5R7B8, Q5U374, Q5ZKD9, Q5ZLD3, Q684M4, Q6DFF6, Q6JEL2, Q6JEL3, Q6NRH0, Q6TDP3, Q6TDP4, Q6ZPT1, Q7QGL0, Q80TF4, Q8BZM0, Q8K430
Diamond homologs: A0A1B8YAB1, A1YPR0, B0WWP2, B1H285, B3M9V8, B3NDN0, B4GRJ2, B4HIK1, B4J045, B4L0G9, B4LIG6, B4MXW3, B4PD06, B4QLQ2, C9JR72, D3Z8N4, E0CZ16, G3X9X1, O15062, O88939, O93567, O95365, P28575, P41182, P41183, Q08CL3, Q08DK3, Q13105, Q16RL8, Q2M0J9, Q3UQV5, Q52KB5, Q5EXX3, Q5R7B8, Q5RDY3, Q5TC79, Q5ZI33, Q5ZKD9, Q5ZM39, Q60821
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
124 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 55 |
| Likely benign | 6 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 832217 | NC_000023.10:g.(?83372068)(86890775_?)del | Pathogenic |
SpliceAI
1786 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:87518311:GCAAG:G | donor_gain | 1.0000 |
| X:87518314:AGGT:A | donor_loss | 1.0000 |
| X:87518315:GGT:G | donor_loss | 1.0000 |
| X:87613875:A:AG | acceptor_gain | 1.0000 |
| X:87613876:G:GC | acceptor_gain | 1.0000 |
| X:87613876:GA:G | acceptor_gain | 1.0000 |
| X:87613876:GAT:G | acceptor_gain | 1.0000 |
| X:87613876:GATT:G | acceptor_gain | 1.0000 |
| X:87613876:GATTA:G | acceptor_gain | 1.0000 |
| X:87614040:CATAG:C | donor_gain | 1.0000 |
| X:87614041:ATAG:A | donor_gain | 1.0000 |
| X:87614042:TAG:T | donor_gain | 1.0000 |
| X:87614043:AG:A | donor_gain | 1.0000 |
| X:87614043:AGGT:A | donor_loss | 1.0000 |
| X:87614044:GG:G | donor_gain | 1.0000 |
| X:87614045:G:GG | donor_gain | 1.0000 |
| X:87614045:GTAA:G | donor_loss | 1.0000 |
| X:87614429:TCCA:T | acceptor_loss | 1.0000 |
| X:87614430:CCA:C | acceptor_loss | 1.0000 |
| X:87614431:CAGGT:C | acceptor_loss | 1.0000 |
| X:87614432:AG:A | acceptor_gain | 1.0000 |
| X:87614432:AGGTT:A | acceptor_gain | 1.0000 |
| X:87614433:G:A | acceptor_loss | 1.0000 |
| X:87614433:GG:G | acceptor_gain | 1.0000 |
| X:87614433:GGTT:G | acceptor_gain | 1.0000 |
| X:87614433:GGTTG:G | acceptor_gain | 1.0000 |
| X:87614567:ACAG:A | donor_gain | 1.0000 |
| X:87614571:G:GA | donor_loss | 1.0000 |
| X:87614571:G:GG | donor_gain | 1.0000 |
| X:87617921:A:AG | acceptor_gain | 1.0000 |
AlphaMissense
4720 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| X:87614038:C:A | A195D | 1.000 |
| X:87614442:T:A | L200H | 1.000 |
| X:87614442:T:C | L200P | 1.000 |
| X:87614475:T:C | F211S | 1.000 |
| X:87617979:G:C | A259P | 1.000 |
| X:87618028:T:C | L275P | 1.000 |
| X:87618056:C:G | C284W | 1.000 |
| X:87622340:T:A | W352R | 1.000 |
| X:87622340:T:C | W352R | 1.000 |
| X:87625743:G:C | R424T | 1.000 |
| X:87625744:A:C | R424S | 1.000 |
| X:87625744:A:T | R424S | 1.000 |
| X:87625776:G:A | G435E | 1.000 |
| X:87632329:G:A | G482R | 1.000 |
| X:87632329:G:C | G482R | 1.000 |
| X:87632330:G:A | G482E | 1.000 |
| X:87632330:G:T | G482V | 1.000 |
| X:87632332:G:A | G483R | 1.000 |
| X:87632332:G:C | G483R | 1.000 |
| X:87632333:G:A | G483E | 1.000 |
| X:87632333:G:T | G483V | 1.000 |
| X:87632422:C:G | R513G | 1.000 |
| X:87632423:G:C | R513P | 1.000 |
| X:87633775:T:G | Y526D | 1.000 |
| X:87633779:C:A | A527D | 1.000 |
| X:87633784:G:C | G529R | 1.000 |
| X:87633785:G:A | G529D | 1.000 |
| X:87633785:G:T | G529V | 1.000 |
| X:87633787:G:C | G530R | 1.000 |
| X:87633788:G:A | G530D | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000000039 (X:87622860 G>A), RS1000056566 (X:87565919 A>C), RS1000073224 (X:87524751 G>A), RS1000079775 (X:87631109 C>A,T), RS1000097467 (X:87632945 G>A), RS1000128028 (X:87565467 C>A), RS1000171983 (X:87530064 T>C), RS1000182090 (X:87530356 G>C), RS1000183131 (X:87614669 T>C), RS1000204470 (X:87529829 T>C), RS1000279087 (X:87652321 A>C), RS1000279608 (X:87668325 G>A), RS1000315206 (X:87540888 A>C), RS1000369958 (X:87548577 A>T), RS1000401087 (X:87531272 T>G)
Disease associations
OMIM: gene MIM:300348 | 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 |
|---|---|---|
| GCST007600_22 | Alzheimer’s disease | 1.000000e-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
41 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 7 |
| Benzo(a)pyrene | increases expression, increases mutagenesis, decreases expression, decreases methylation | 4 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Tetrachlorodibenzodioxin | increases expression, decreases expression | 2 |
| Aflatoxin B1 | affects expression, decreases methylation | 2 |
| Particulate Matter | decreases expression, increases abundance | 2 |
| testosterone undecanoate | affects cotreatment, decreases expression | 1 |
| trichostatin A | increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression, affects cotreatment, decreases expression | 1 |
| mercuric bromide | affects cotreatment, increases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| ICG 001 | decreases expression | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| incobotulinumtoxinA | decreases expression | 1 |
| NSC 689534 | affects binding, increases expression | 1 |
| 2,3,5-trichloro-6-phenyl-(1,4)benzoquinone | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Ethanol | affects cotreatment, increases expression | 1 |
| Carbamazepine | affects expression | 1 |
| Cisplatin | decreases expression, affects cotreatment | 1 |
| Copper | affects binding, increases expression | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Doxorubicin | decreases 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.