IQSEC3
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Also known as KIAA1110MGC30156
Summary
IQSEC3 (IQ motif and Sec7 domain ArfGEF 3, HGNC:29193) is a protein-coding gene on chromosome 12p13.33, encoding IQ motif and SEC7 domain-containing protein 3 (Q9UPP2). Acts as a guanine nucleotide exchange factor (GEF) for ARF1.
Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in several processes, including activation of GTPase activity; postsynapse organization; and regulation of small GTPase mediated signal transduction. Located in cytosol and nucleoplasm.
Source: NCBI Gene 440073 — RefSeq curated summary.
At a glance
- Gene–disease (curated): intellectual disability (Moderate, GenCC)
- GWAS associations: 4
- Clinical variants (ClinVar): 183 total — 1 pathogenic
- MANE Select transcript:
NM_001170738
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29193 |
| Approved symbol | IQSEC3 |
| Name | IQ motif and Sec7 domain ArfGEF 3 |
| Location | 12p13.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1110, MGC30156 |
| Ensembl gene | ENSG00000120645 |
| Ensembl biotype | protein_coding |
| OMIM | 612118 |
| Entrez | 440073 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 2 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000382841, ENST00000537151, ENST00000538872, ENST00000540907, ENST00000544511
RefSeq mRNA: 2 — MANE Select: NM_001170738
NM_001170738, NM_015232
CCDS: CCDS31725, CCDS53728
Canonical transcript exons
ENST00000538872 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000893353 | 141124 | 141285 |
| ENSE00000893355 | 157528 | 157694 |
| ENSE00000893356 | 161926 | 162065 |
| ENSE00000893357 | 163494 | 163619 |
| ENSE00000893358 | 165434 | 165533 |
| ENSE00000893359 | 165729 | 165890 |
| ENSE00000893360 | 169013 | 169105 |
| ENSE00001505730 | 125633 | 125912 |
| ENSE00001671798 | 157025 | 157147 |
| ENSE00002223867 | 174599 | 178455 |
| ENSE00002310174 | 66767 | 67436 |
| ENSE00003532902 | 99146 | 99214 |
| ENSE00003573830 | 138267 | 139354 |
| ENSE00003594037 | 171112 | 171161 |
Expression profiles
Bgee: expression breadth ubiquitous, 196 present calls, max score 98.62.
FANTOM5 (CAGE): breadth broad, TPM avg 0.5235 / max 46.6123, expressed in 194 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 123281 | 0.2182 | 77 |
| 123289 | 0.1731 | 106 |
| 123287 | 0.0843 | 45 |
| 123288 | 0.0478 | 25 |
Top tissues by expression
285 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right hemisphere of cerebellum | UBERON:0014890 | 98.62 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 98.36 | gold quality |
| cerebellar cortex | UBERON:0002129 | 98.33 | gold quality |
| cerebellum | UBERON:0002037 | 97.14 | gold quality |
| right frontal lobe | UBERON:0002810 | 96.81 | gold quality |
| cingulate cortex | UBERON:0003027 | 94.84 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 94.79 | gold quality |
| amygdala | UBERON:0001876 | 94.35 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 94.29 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 93.27 | gold quality |
| prefrontal cortex | UBERON:0000451 | 92.77 | gold quality |
| frontal cortex | UBERON:0001870 | 92.25 | gold quality |
| neocortex | UBERON:0001950 | 91.86 | gold quality |
| cerebellar vermis | UBERON:0004720 | 91.31 | gold quality |
| hypothalamus | UBERON:0001898 | 91.30 | gold quality |
| nucleus accumbens | UBERON:0001882 | 91.26 | gold quality |
| cerebral cortex | UBERON:0000956 | 90.92 | gold quality |
| Ammon’s horn | UBERON:0001954 | 90.30 | gold quality |
| telencephalon | UBERON:0001893 | 90.19 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 90.17 | gold quality |
| brain | UBERON:0000955 | 90.06 | gold quality |
| putamen | UBERON:0001874 | 89.92 | gold quality |
| temporal lobe | UBERON:0001871 | 89.88 | gold quality |
| central nervous system | UBERON:0001017 | 89.78 | gold quality |
| forebrain | UBERON:0001890 | 89.73 | gold quality |
| right uterine tube | UBERON:0001302 | 89.44 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 89.24 | gold quality |
| caudate nucleus | UBERON:0001873 | 89.20 | gold quality |
| postcentral gyrus | UBERON:0002581 | 88.91 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 88.33 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 1.25 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
220 targeting IQSEC3, 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-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-4776-3P | 100.00 | 68.73 | 1340 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-1236-3P | 99.94 | 68.04 | 1695 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-4779 | 99.86 | 66.50 | 1583 |
| HSA-MIR-5582-3P | 99.86 | 72.48 | 4221 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-548AR-3P | 99.85 | 71.26 | 3889 |
| HSA-MIR-765 | 99.84 | 68.24 | 2442 |
| HSA-MIR-1321 | 99.84 | 65.30 | 1811 |
| HSA-MIR-4739 | 99.84 | 65.25 | 1832 |
| HSA-MIR-4756-5P | 99.84 | 64.98 | 1809 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-6756-5P | 99.82 | 67.97 | 2466 |
Literature-anchored findings (GeneRIF, showing 5)
- These results suggest that KIAA1110 is expressed specifically in mature neurons and may play an important role in the secretion pathway as a GEF for ARF1. (PMID:17981261)
- these data reveal that IQSEC3 acts together with gephyrin to regulate inhibitory synapse development. (PMID:27002143)
- The genomic and clinical landscape of fetal akinesia. (PMID:31680123)
- Loss of IQSEC3 Disrupts GABAergic Synapse Maintenance and Decreases Somatostatin Expression in the Hippocampus. (PMID:32049026)
- IQSEC3 Deletion Impairs Fear Memory Through Upregulation of Ribosomal S6K1 Signaling in the Hippocampus. (PMID:35219498)
Cross-species orthologs
9 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | iqsec3b | ENSDARG00000093091 |
| mus_musculus | Iqsec3 | ENSMUSG00000040797 |
| rattus_norvegicus | Iqsec3 | ENSRNOG00000014083 |
| drosophila_melanogaster | siz | FBGN0026179 |
| drosophila_melanogaster | Sec71 | FBGN0028538 |
| drosophila_melanogaster | garz | FBGN0264560 |
| caenorhabditis_elegans | WBGENE00007703 | |
| caenorhabditis_elegans | WBGENE00008685 | |
| caenorhabditis_elegans | agef-1 | WBGENE00012386 |
Paralogs (15): CYTH3 (ENSG00000008256), PSD (ENSG00000059915), MON2 (ENSG00000061987), ARFGEF1 (ENSG00000066777), CYTH4 (ENSG00000100055), CYTH2 (ENSG00000105443), GBF1 (ENSG00000107862), CYTH1 (ENSG00000108669), ARFGEF2 (ENSG00000124198), IQSEC2 (ENSG00000124313), PSD4 (ENSG00000125637), IQSEC1 (ENSG00000144711), PSD2 (ENSG00000146005), PSD3 (ENSG00000156011), FBXO8 (ENSG00000164117)
Protein
Protein identifiers
IQ motif and SEC7 domain-containing protein 3 — Q9UPP2 (reviewed: Q9UPP2)
All UniProt accessions (1): Q9UPP2
UniProt curated annotations — full annotation on UniProt →
Function. Acts as a guanine nucleotide exchange factor (GEF) for ARF1.
Subunit / interactions. Interacts with DLG1 and DLG4. Interacts with GPHN.
Subcellular location. Cytoplasm. Postsynaptic density.
Tissue specificity. Expressed specifically in the adult brain, predominantly in the cerebral cortex and the olfactory bulb, but not in the fetal brain. Expressed only in mature neurons, but not in undifferentiated neural stem precursor cells (NSPCs), nor in glioma cells.
Similarity. Belongs to the BRAG family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9UPP2-1 | 1 | yes |
| Q9UPP2-2 | 2 |
RefSeq proteins (2): NP_001164209, NP_056047 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000904 | Sec7_dom | Domain |
| IPR011993 | PH-like_dom_sf | Homologous_superfamily |
| IPR023394 | Sec7_C_sf | Homologous_superfamily |
| IPR033742 | IQSEC_PH | Domain |
| IPR035999 | Sec7_dom_sf | Homologous_superfamily |
Pfam: PF01369, PF16453
UniProt features (35 total): compositionally biased region 12, sequence conflict 6, region of interest 6, domain 3, splice variant 3, coiled-coil region 2, chain 1, modified residue 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UPP2-F1 | 58.76 | 0.27 |
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): 259
Function
Pathways and Gene Ontology
Reactome pathways
5 pathways
| ID | Pathway |
|---|---|
| R-HSA-9768919 | NPAS4 regulates expression of target genes |
| R-HSA-212436 | Generic Transcription Pathway |
| R-HSA-73857 | RNA Polymerase II Transcription |
| R-HSA-74160 | Gene expression (Transcription) |
| R-HSA-9634815 | Transcriptional Regulation by NPAS4 |
MSigDB gene sets: 124 (showing top):
GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT, FERREIRA_EWINGS_SARCOMA_UNSTABLE_VS_STABLE_DN, BROWNE_HCMV_INFECTION_48HR_DN, GOBP_REGULATION_OF_RECEPTOR_INTERNALIZATION, GOBP_REGULATION_OF_RECEPTOR_MEDIATED_ENDOCYTOSIS, GOBP_RECEPTOR_INTERNALIZATION, GOBP_REGULATION_OF_ENDOCYTOSIS, KEGG_ENDOCYTOSIS, GOBP_REGULATION_OF_TRANSPORT, GOBP_IMPORT_INTO_CELL, GOBP_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, GOBP_ENDOCYTOSIS, GOCC_POSTSYNAPSE
GO Biological Process (2): actin cytoskeleton organization (GO:0030036), regulation of ARF protein signal transduction (GO:0032012)
GO Molecular Function (1): guanyl-nucleotide exchange factor activity (GO:0005085)
GO Cellular Component (10): nucleoplasm (GO:0005654), cytosol (GO:0005829), postsynaptic density (GO:0014069), postsynaptic membrane (GO:0045211), inhibitory synapse (GO:0060077), glycinergic synapse (GO:0098690), GABA-ergic synapse (GO:0098982), postsynaptic specialization of symmetric synapse (GO:0099629), cytoplasm (GO:0005737), synapse (GO:0045202)
Reactome top-level categories
Rollup of top-4 pathways:
| Category | Pathways |
|---|---|
| Transcriptional Regulation by NPAS4 | 1 |
| RNA Polymerase II Transcription | 1 |
| Gene expression (Transcription) | 1 |
| Generic Transcription Pathway | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| synapse | 3 |
| postsynaptic specialization | 2 |
| cytoskeleton organization | 1 |
| actin filament-based process | 1 |
| ARF protein signal transduction | 1 |
| regulation of small GTPase mediated signal transduction | 1 |
| GTP binding | 1 |
| GDP binding | 1 |
| GTPase regulator activity | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
| asymmetric synapse | 1 |
| synaptic membrane | 1 |
| postsynapse | 1 |
| symmetric synapse | 1 |
| intracellular anatomical structure | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
1376 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| IQSEC3 | GPHN | Q9NQX3 | 826 |
| IQSEC3 | RBFOX3 | A6NFN3 | 825 |
| IQSEC3 | ARF6 | P26438 | 735 |
| IQSEC3 | INSYN1 | Q2T9L4 | 660 |
| IQSEC3 | ARF1 | P10947 | 638 |
| IQSEC3 | ARHGEF9 | O43307 | 568 |
| IQSEC3 | EVL | Q9UI08 | 515 |
| IQSEC3 | TMEM236 | Q5W0B7 | 510 |
| IQSEC3 | RBM43 | Q6ZSC3 | 482 |
| IQSEC3 | PLEK2 | Q9NYT0 | 463 |
| IQSEC3 | NRIP2 | Q9BQI9 | 463 |
| IQSEC3 | PLEK | P08567 | 451 |
| IQSEC3 | TEX52 | A6NCN8 | 448 |
| IQSEC3 | NLGN2 | Q8NFZ4 | 440 |
| IQSEC3 | RBMS3 | Q6XE24 | 431 |
| IQSEC3 | INSYN2A | Q6ZSG2 | 431 |
IntAct
2 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| M | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (3): IQSEC3 (Affinity Capture-MS), IQSEC3 (Affinity Capture-RNA), IQSEC3 (Affinity Capture-MS)
ESM2 similar proteins: A0A140LI67, A0JN76, A1L2U9, A2A5N8, A2AJ77, A6QPM3, B1WAZ8, B8A5Y1, D3ZWK4, E9Q3T6, E9Q8T2, O15060, O88866, O94966, P0C2N6, P57058, Q05516, Q0IH98, Q0IJ29, Q3B725, Q3TES0, Q3UZD5, Q4R739, Q60760, Q68UT7, Q6NZK8, Q6P2A1, Q6P4K6, Q6Q783, Q6S5L9, Q6YND2, Q76M68, Q7ZWZ4, Q80X44, Q8BXX2, Q8N680, Q8NE63, Q96CK0, Q99592, Q9GZV8
Diamond homologs: A0A0G2JUG7, A2A5R2, A5PKW4, D4A631, E1JIT7, F1MUS9, F4IXW2, F4JN05, F4JSZ5, F4K2K3, G3X9K3, G5EET6, O08967, O13690, O13817, O43739, O46382, P11075, P34512, P39993, P47102, P63034, P63035, P97694, P97696, Q10491, Q15438, Q2KI41, Q2PFD7, Q3TES0, Q42510, Q54KA7, Q5DTT2, Q5DU25, Q5E9G6, Q5JU85, Q6DFZ1, Q6DN90, Q6P1I6, Q76M68
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
183 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 144 |
| Likely benign | 13 |
| Benign | 8 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1180524 | GRCh37/hg19 12p13.33-13.31(chr12:189145-7730395)x3 | Pathogenic |
SpliceAI
3068 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:139350:AACAT:A | donor_gain | 1.0000 |
| 12:139351:ACAT:A | donor_gain | 1.0000 |
| 12:139352:CAT:C | donor_gain | 1.0000 |
| 12:139352:CATG:C | donor_loss | 1.0000 |
| 12:139353:AT:A | donor_gain | 1.0000 |
| 12:139354:TGTA:T | donor_loss | 1.0000 |
| 12:139355:G:GG | donor_gain | 1.0000 |
| 12:141110:A:AG | acceptor_gain | 1.0000 |
| 12:141111:C:G | acceptor_gain | 1.0000 |
| 12:141116:A:AG | acceptor_gain | 1.0000 |
| 12:141117:C:G | acceptor_gain | 1.0000 |
| 12:141120:CCA:C | acceptor_loss | 1.0000 |
| 12:141121:CAGA:C | acceptor_loss | 1.0000 |
| 12:141122:A:AG | acceptor_gain | 1.0000 |
| 12:141122:AGA:A | acceptor_loss | 1.0000 |
| 12:141123:G:GT | acceptor_gain | 1.0000 |
| 12:141123:GA:G | acceptor_gain | 1.0000 |
| 12:141123:GAA:G | acceptor_gain | 1.0000 |
| 12:141123:GAAA:G | acceptor_gain | 1.0000 |
| 12:141123:GAAAC:G | acceptor_gain | 1.0000 |
| 12:141282:TGGA:T | donor_gain | 1.0000 |
| 12:141283:GGA:G | donor_gain | 1.0000 |
| 12:141283:GGAG:G | donor_gain | 1.0000 |
| 12:141284:GA:G | donor_gain | 1.0000 |
| 12:141284:GAG:G | donor_gain | 1.0000 |
| 12:141284:GAGT:G | donor_loss | 1.0000 |
| 12:141285:AGT:A | donor_loss | 1.0000 |
| 12:141286:G:C | donor_loss | 1.0000 |
| 12:141286:G:GG | donor_gain | 1.0000 |
| 12:141288:GAG:G | donor_loss | 1.0000 |
AlphaMissense
7649 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:138328:T:A | I322N | 1.000 |
| 12:138339:T:C | F326L | 1.000 |
| 12:138340:T:C | F326S | 1.000 |
| 12:138341:C:A | F326L | 1.000 |
| 12:138341:C:G | F326L | 1.000 |
| 12:138343:G:C | R327P | 1.000 |
| 12:138355:T:C | L331P | 1.000 |
| 12:139330:G:C | R656P | 1.000 |
| 12:139335:G:C | G658R | 1.000 |
| 12:139336:G:A | G658D | 1.000 |
| 12:139339:T:C | L659P | 1.000 |
| 12:139345:T:C | L661P | 1.000 |
| 12:141137:G:C | G669R | 1.000 |
| 12:141138:G:A | G669D | 1.000 |
| 12:141150:T:C | L673P | 1.000 |
| 12:141192:C:A | A687D | 1.000 |
| 12:141198:T:C | F689S | 1.000 |
| 12:141201:T:C | L690P | 1.000 |
| 12:141204:T:C | L691P | 1.000 |
| 12:141215:G:C | G695R | 1.000 |
| 12:141219:T:C | L696P | 1.000 |
| 12:141236:G:A | G702R | 1.000 |
| 12:141236:G:C | G702R | 1.000 |
| 12:141237:G:A | G702E | 1.000 |
| 12:141246:T:C | L705P | 1.000 |
| 12:141282:T:C | L717P | 1.000 |
| 12:157075:T:C | L735P | 1.000 |
| 12:157084:T:C | F738S | 1.000 |
| 12:157132:T:C | L754P | 1.000 |
| 12:157569:T:C | F773S | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000005973 (12:124673 A>G,T), RS1000068705 (12:82069 T>C), RS1000076018 (12:82276 G>A), RS1000111387 (12:152755 C>T), RS1000156739 (12:144668 G>A), RS1000167210 (12:113955 A>C,G), RS1000218657 (12:178135 A>C), RS1000232719 (12:114156 G>A), RS1000236756 (12:128404 A>G), RS1000318306 (12:147778 C>T), RS1000405445 (12:157194 G>A), RS1000418167 (12:109216 C>T), RS1000421051 (12:142249 C>T), RS1000503249 (12:177228 A>G,T), RS1000600707 (12:148543 T>C)
Disease associations
OMIM: gene MIM:612118 | disease phenotypes: MIM:617468, MIM:208150
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| intellectual disability | Moderate | Autosomal recessive |
Mondo (3): arthrogryposis multiplex congenita (MONDO:0015168), fetal akinesia deformation sequence 1 (MONDO:0100101), intellectual disability (MONDO:0001071)
Orphanet (2): Arthrogryposis multiplex congenita (Orphanet:1037), Fetal akinesia deformation sequence (Orphanet:994)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001520_1 | Response to angiotensin II receptor blocker therapy | 6.000000e-06 |
| GCST002875_57 | Diisocyanate-induced asthma | 1.000000e-06 |
| GCST007831_5 | Anti-thyroglobulin (TgAb) levels in Hashimoto’s thyroiditis | 4.000000e-06 |
| GCST012020_445 | Serum metabolite levels | 8.000000e-23 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006995 | response to diisocyanate |
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
22 total (human), top 22 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases methylation | 3 |
| Benzo(a)pyrene | affects methylation, increases methylation | 2 |
| GSK-J4 | decreases expression | 1 |
| bisphenol A | affects methylation, affects cotreatment, increases methylation | 1 |
| ethyl-p-hydroxybenzoate | decreases expression | 1 |
| dimethylselenide | increases expression, increases oxidation | 1 |
| mono-(2-ethylhexyl)phthalate | increases abundance, increases methylation | 1 |
| butyraldehyde | decreases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Fulvestrant | increases methylation, affects cotreatment | 1 |
| Acetaminophen | decreases expression | 1 |
| Allergens | decreases expression | 1 |
| Diethylhexyl Phthalate | increases abundance, increases methylation | 1 |
| Lead | affects expression | 1 |
| Methapyrilene | increases methylation | 1 |
| Niclosamide | increases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Triclosan | increases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Reactive Oxygen Species | increases expression, increases oxidation | 1 |
Clinical trials (associated diseases)
201 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): arthrogryposis multiplex congenita, fetal akinesia deformation sequence 1