BHLHE22
geneOn this page
Also known as CAGL85Beta3
Summary
BHLHE22 (basic helix-loop-helix family member e22, HGNC:11963) is a protein-coding gene on chromosome 8q12.3, encoding Class E basic helix-loop-helix protein 22 (Q8NFJ8). Inhibits DNA binding of TCF3/E47 homodimers and TCF3 (E47)/NEUROD1 heterodimers and acts as a strong repressor of Neurod1 and Myod-responsive genes, probably by heterodimerization with class a basic helix-loop-helix factors.
This gene encodes a protein that belongs to the basic helix-loop-helix (bHLH) family of transcription factors that regulate cell fate determination, proliferation, and differentiation. A similar protein in mouse is required for the development of the dorsal cochlear nuclei, and is thought to play a role in in the differentiation of neurons involved in sensory input. The mouse protein also functions in retinogenesis.
Source: NCBI Gene 27319 — RefSeq curated summary.
At a glance
- Gene–disease (curated): neurodevelopmental disorder (Strong, GenCC)
- GWAS associations: 8
- Clinical variants (ClinVar): 75 total — 3 likely-pathogenic
- MANE Select transcript:
NM_152414
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11963 |
| Approved symbol | BHLHE22 |
| Name | basic helix-loop-helix family member e22 |
| Location | 8q12.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CAGL85, Beta3 |
| Ensembl gene | ENSG00000180828 |
| Ensembl biotype | protein_coding |
| OMIM | 613483 |
| Entrez | 27319 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000321870
RefSeq mRNA: 1 — MANE Select: NM_152414
NM_152414
CCDS: CCDS6179
Canonical transcript exons
ENST00000321870 — 1 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001242976 | 64580365 | 64583627 |
Expression profiles
Bgee: expression breadth ubiquitous, 192 present calls, max score 96.03.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.6470 / max 304.8931, expressed in 155 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 89141 | 0.7382 | 111 |
| 89138 | 0.5263 | 36 |
| 89143 | 0.1566 | 57 |
| 89142 | 0.1386 | 43 |
| 89140 | 0.0531 | 23 |
| 89139 | 0.0342 | 13 |
Top tissues by expression
239 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 96.03 | gold quality |
| cortical plate | UBERON:0005343 | 94.56 | gold quality |
| ganglionic eminence | UBERON:0004023 | 93.85 | gold quality |
| cerebellar vermis | UBERON:0004720 | 92.94 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 91.98 | gold quality |
| primary visual cortex | UBERON:0002436 | 89.58 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 88.92 | gold quality |
| endothelial cell | CL:0000115 | 86.22 | gold quality |
| superficial temporal artery | UBERON:0001614 | 85.99 | gold quality |
| occipital lobe | UBERON:0002021 | 85.82 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 85.44 | silver quality |
| oocyte | CL:0000023 | 85.02 | gold quality |
| Ammon’s horn | UBERON:0001954 | 84.45 | gold quality |
| cerebellum | UBERON:0002037 | 83.15 | gold quality |
| cerebellar cortex | UBERON:0002129 | 82.29 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 82.21 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 81.99 | gold quality |
| visceral pleura | UBERON:0002401 | 80.69 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 79.78 | gold quality |
| amygdala | UBERON:0001876 | 78.92 | gold quality |
| entorhinal cortex | UBERON:0002728 | 78.77 | gold quality |
| temporal lobe | UBERON:0001871 | 78.69 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 77.36 | gold quality |
| seminal vesicle | UBERON:0000998 | 77.32 | gold quality |
| parietal pleura | UBERON:0002400 | 77.08 | gold quality |
| postcentral gyrus | UBERON:0002581 | 75.37 | gold quality |
| cerebral cortex | UBERON:0000956 | 74.51 | gold quality |
| medial globus pallidus | UBERON:0002477 | 74.39 | gold quality |
| parietal lobe | UBERON:0001872 | 73.40 | gold quality |
| lower lobe of lung | UBERON:0008949 | 73.22 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-11121 | yes | 472.97 |
| E-ANND-3 | no | 1.29 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
2 targets.
| Target | Regulation |
|---|---|
| INS | |
| PAX6 | Repression |
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA0818.1 | BHLHE22 | Tal-related |
| MA0818.2 | BHLHE22 | Tal-related |
| MA1635.1 | BHLHE22 | Tal-related |
| MA1635.2 | BHLHE22 | Tal-related |
JASPAR matrix evidence (PMIDs): PMID:22284184
Upstream regulators (CollecTRI, top): ATOH7, HOXA10
miRNA regulators (miRDB)
115 targeting BHLHE22, 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-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-4715-3P | 99.98 | 66.03 | 670 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-9-3P | 99.96 | 70.88 | 2068 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-96-5P | 99.95 | 72.80 | 2140 |
| HSA-MIR-1-3P | 99.93 | 72.35 | 1914 |
| HSA-MIR-206 | 99.93 | 72.50 | 1893 |
| HSA-MIR-12133 | 99.92 | 71.82 | 2006 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-613 | 99.91 | 71.50 | 1710 |
| HSA-MIR-1271-5P | 99.91 | 71.99 | 1972 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-182-5P | 99.87 | 74.03 | 2589 |
| HSA-MIR-137-3P | 99.87 | 74.74 | 2401 |
| HSA-MIR-5003-3P | 99.85 | 69.29 | 2517 |
| HSA-MIR-548AR-3P | 99.85 | 71.26 | 3889 |
| HSA-MIR-548AZ-3P | 99.82 | 70.56 | 3549 |
| HSA-MIR-548BC | 99.82 | 70.61 | 3524 |
| HSA-MIR-548E-3P | 99.82 | 70.59 | 3514 |
Literature-anchored findings (GeneRIF, showing 4)
- Segregates with Duane syndrome. Brain-specific expression with the highest abundance in the cerebellum. (PMID:12213201)
- Rare variant association study of veteran twin whole-genomes links severe depression with a nonsynonymous change in the neuronal gene BHLHE22. (PMID:34664540)
- BHLHE22 Expression Is Associated with a Proinflammatory Immune Microenvironment and Confers a Favorable Prognosis in Endometrial Cancer. (PMID:35806162)
- BHLHE22 drives the immunosuppressive bone tumor microenvironment and associated bone metastasis in prostate cancer. (PMID:36941015)
Cross-species orthologs
8 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | bhlhe22 | ENSDARG00000058039 |
| mus_musculus | Bhlhe22 | ENSMUSG00000025128 |
| rattus_norvegicus | Bhlhe22 | ENSRNOG00000021745 |
| drosophila_melanogaster | amos | FBGN0003270 |
| drosophila_melanogaster | ato | FBGN0010433 |
| drosophila_melanogaster | tap | FBGN0015550 |
| caenorhabditis_elegans | WBGENE00003018 | |
| caenorhabditis_elegans | WBGENE00003595 |
Paralogs (15): NEUROG3 (ENSG00000122859), NEUROD4 (ENSG00000123307), BHLHE23 (ENSG00000125533), NEUROD1 (ENSG00000162992), NEUROD6 (ENSG00000164600), ATOH8 (ENSG00000168874), NEUROD2 (ENSG00000171532), ATOH1 (ENSG00000172238), OLIG3 (ENSG00000177468), NEUROG2 (ENSG00000178403), ATOH7 (ENSG00000179774), BHLHA15 (ENSG00000180535), NEUROG1 (ENSG00000181965), OLIG1 (ENSG00000184221), OLIG2 (ENSG00000205927)
Protein
Protein identifiers
Class E basic helix-loop-helix protein 22 — Q8NFJ8 (reviewed: Q8NFJ8)
Alternative names: Class B basic helix-loop-helix protein 5, Trinucleotide repeat-containing gene 20 protein
All UniProt accessions (1): Q8NFJ8
UniProt curated annotations — full annotation on UniProt →
Function. Inhibits DNA binding of TCF3/E47 homodimers and TCF3 (E47)/NEUROD1 heterodimers and acts as a strong repressor of Neurod1 and Myod-responsive genes, probably by heterodimerization with class a basic helix-loop-helix factors. Despite the presence of an intact basic domain, does not bind to DNA. In the brain, may function as an area-specific transcription factor that regulates the postmitotic acquisition of area identities and elucidate the genetic hierarchy between progenitors and postmitotic neurons driving neocortical arealization. May be required for the survival of a specific population of inhibitory neurons in the superficial laminae of the spinal cord dorsal horn that may regulate pruritis. Seems to play a crucial role in the retinogenesis, in the specification of amacrine and bipolar subtypes. Forms with PRDM8 a transcriptional repressor complex controlling genes involved in neural development and neuronal differentiation.
Subunit / interactions. Interacts with PRDM8.
Subcellular location. Nucleus.
Tissue specificity. Brain-specific, with the highest expression in the cerebellum.
RefSeq proteins (1): NP_689627* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR011598 | bHLH_dom | Domain |
| IPR036638 | HLH_DNA-bd_sf | Homologous_superfamily |
| IPR050359 | bHLH_transcription_factors | Family |
Pfam: PF00010
UniProt features (8 total): region of interest 3, compositionally biased region 2, chain 1, domain 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8NFJ8-F1 | 60.10 | 0.19 |
Function
Pathways and Gene Ontology
Reactome pathways
8 pathways
| ID | Pathway |
|---|---|
| R-HSA-9762293 | Regulation of CDH11 gene transcription |
| R-HSA-1500931 | Cell-Cell communication |
| R-HSA-418990 | Adherens junctions interactions |
| R-HSA-421270 | Cell-cell junction organization |
| R-HSA-446728 | Cell junction organization |
| R-HSA-9759475 | Regulation of CDH11 Expression and Function |
| R-HSA-9759476 | Regulation of Homotypic Cell-Cell Adhesion |
| R-HSA-9764260 | Regulation of Expression and Function of Type II Classical Cadherins |
MSigDB gene sets: 185 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_DN, GSE45365_NK_CELL_VS_CD8_TCELL_DN, GCACCTT_MIR18A_MIR18B, BENPORATH_ES_WITH_H3K27ME3, STAEGE_EWING_FAMILY_TUMOR, CMYB_01, DARWICHE_SKIN_TUMOR_PROMOTER_DN, DARWICHE_PAPILLOMA_RISK_LOW_UP, GOBP_NEUROGENESIS, DARWICHE_PAPILLOMA_RISK_HIGH_DN, DARWICHE_SQUAMOUS_CELL_CARCINOMA_DN, AATGGAG_MIR136, SHEPARD_BMYB_MORPHOLINO_DN, REACTOME_ADHERENS_JUNCTIONS_INTERACTIONS, MARTORIATI_MDM4_TARGETS_NEUROEPITHELIUM_DN
GO Biological Process (4): sensory organ development (GO:0007423), positive regulation of transcription by RNA polymerase II (GO:0045944), axon development (GO:0061564), nervous system development (GO:0007399)
GO Molecular Function (4): DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), protein dimerization activity (GO:0046983), E-box binding (GO:0070888), sequence-specific double-stranded DNA binding (GO:1990837)
GO Cellular Component (2): chromatin (GO:0000785), nucleus (GO:0005634)
Reactome top-level categories
Rollup of top-7 pathways:
| Category | Pathways |
|---|---|
| Regulation of CDH11 Expression and Function | 1 |
| Cell-cell junction organization | 1 |
| Cell junction organization | 1 |
| Cell-Cell communication | 1 |
| Regulation of Expression and Function of Type II Classical Cadherins | 1 |
| Adherens junctions interactions | 1 |
| Regulation of Homotypic Cell-Cell Adhesion | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of transcription by RNA polymerase II | 2 |
| animal organ development | 1 |
| transcription by RNA polymerase II | 1 |
| positive regulation of DNA-templated transcription | 1 |
| neuron projection development | 1 |
| system development | 1 |
| chromatin | 1 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 1 |
| DNA-binding transcription factor activity | 1 |
| protein binding | 1 |
| RNA polymerase II cis-regulatory region sequence-specific DNA binding | 1 |
| double-stranded DNA binding | 1 |
| sequence-specific DNA binding | 1 |
| chromosome | 1 |
| cellular anatomical structure | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1226 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| BHLHE22 | PRDM8 | Q9NQV8 | 868 |
| BHLHE22 | AP3B1 | O00203 | 728 |
| BHLHE22 | ITGB3BP | Q13352 | 663 |
| BHLHE22 | LAMP2 | P13473 | 594 |
| BHLHE22 | VSX2 | P58304 | 593 |
| BHLHE22 | GRPR | P30550 | 590 |
| BHLHE22 | BARHL2 | Q9NY43 | 575 |
| BHLHE22 | CD63 | P08962 | 574 |
| BHLHE22 | PAX6 | P26367 | 568 |
| BHLHE22 | FOXN4 | Q96NZ1 | 542 |
| BHLHE22 | TBR1 | Q16650 | 529 |
| BHLHE22 | VSX1 | Q9NZR4 | 515 |
| BHLHE22 | POU4F2 | Q12837 | 507 |
| BHLHE22 | SLC17A6 | Q9P2U8 | 500 |
| BHLHE22 | PRDM13 | Q9H4Q3 | 499 |
IntAct
9 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| BHLHE23 | CSNK2A2 | psi-mi:“MI:0914”(association) | 0.620 |
| CCL18 | BHLHE22 | psi-mi:“MI:0915”(physical association) | 0.370 |
| BHLHE22 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| IFNA16 | BHLHE22 | psi-mi:“MI:0915”(physical association) | 0.370 |
| IFNA21 | BHLHE22 | psi-mi:“MI:0915”(physical association) | 0.370 |
| IL2 | BHLHE22 | psi-mi:“MI:0915”(physical association) | 0.370 |
| IL37 | BHLHE22 | psi-mi:“MI:0915”(physical association) | 0.370 |
BioGRID (4): BHLHE22 (Biochemical Activity), BHLHE22 (Affinity Capture-MS), BHLHE22 (Affinity Capture-Western), OTUD3 (Affinity Capture-Western)
ESM2 similar proteins: A2A9A2, A4QNP7, A6QQ94, A6YP92, A7M7C7, A7MB54, B5RHS5, M0R6D8, O09029, O35085, P28360, P41225, P43694, P46153, P50548, P78414, P78415, P79772, P81067, P81068, P84550, P84551, Q08369, Q0Q0E4, Q14549, Q14774, Q2I327, Q2MJB4, Q2VL84, Q2VL87, Q2VL88, Q2VWA4, Q3SZJ5, Q4AE28, Q61169, Q61345, Q6YHU8, Q71T09, Q76L87, Q7TQ40
Diamond homologs: A8E5T6, B6VQA1, O09029, O09105, O13125, O13126, O16867, O35437, O42202, O42606, O43680, O45489, O57598, O88940, O96004, O96642, P10627, P13903, P46581, P48985, P48986, P48987, P57100, P57101, P57102, P59101, P61295, P61296, P70447, P70562, P70595, P70660, P70661, P79765, P79766, P79782, P79920, P97832, Q08DI0, Q0V9X5
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
75 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 3 |
| Uncertain significance | 68 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (3)
| Variant ID | HGVS | Classification |
|---|---|---|
| 4819976 | NM_152414.5(BHLHE22):c.764T>G (p.Met255Arg) | Likely pathogenic |
| 4819977 | NM_152414.5(BHLHE22):c.221_260del (p.Gly74fs) | Likely pathogenic |
| 4820273 | NM_152414.5(BHLHE22):c.751G>C (p.Glu251Gln) | Likely pathogenic |
SpliceAI
10 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:64580884:G:GT | donor_gain | 0.5200 |
| 8:64580428:A:G | donor_gain | 0.4300 |
| 8:64580615:G:T | donor_gain | 0.3900 |
| 8:64580597:G:GT | donor_gain | 0.3700 |
| 8:64581056:G:GT | donor_gain | 0.3700 |
| 8:64581056:G:T | donor_gain | 0.3700 |
| 8:64580642:G:T | donor_gain | 0.3300 |
| 8:64580615:G:GT | donor_gain | 0.3200 |
| 8:64581979:A:T | donor_gain | 0.2800 |
| 8:64580426:G:A | donor_gain | 0.2300 |
AlphaMissense
2433 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:64581524:T:C | L245P | 1.000 |
| 8:64581530:T:A | I247N | 1.000 |
| 8:64581530:T:C | I247T | 1.000 |
| 8:64581530:T:G | I247S | 1.000 |
| 8:64581532:A:G | N248D | 1.000 |
| 8:64581534:T:A | N248K | 1.000 |
| 8:64581534:T:G | N248K | 1.000 |
| 8:64581535:G:C | A249P | 1.000 |
| 8:64581539:G:C | R250P | 1.000 |
| 8:64581541:G:A | E251K | 1.000 |
| 8:64581542:A:C | E251A | 1.000 |
| 8:64581542:A:G | E251G | 1.000 |
| 8:64581542:A:T | E251V | 1.000 |
| 8:64581543:G:C | E251D | 1.000 |
| 8:64581543:G:T | E251D | 1.000 |
| 8:64581544:C:A | R252S | 1.000 |
| 8:64581544:C:T | R252C | 1.000 |
| 8:64581545:G:C | R252P | 1.000 |
| 8:64581548:G:C | R253P | 1.000 |
| 8:64581550:C:G | R254G | 1.000 |
| 8:64581550:C:T | R254W | 1.000 |
| 8:64581551:G:C | R254P | 1.000 |
| 8:64581553:A:G | M255V | 1.000 |
| 8:64581554:T:A | M255K | 1.000 |
| 8:64581554:T:C | M255T | 1.000 |
| 8:64581554:T:G | M255R | 1.000 |
| 8:64581555:G:A | M255I | 1.000 |
| 8:64581555:G:C | M255I | 1.000 |
| 8:64581555:G:T | M255I | 1.000 |
| 8:64581556:C:A | H256N | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000055368 (8:64580235 C>G), RS1000365268 (8:64582716 T>C), RS1000481390 (8:64583157 A>T), RS1000829920 (8:64579294 C>A,G,T), RS1001112078 (8:64578738 C>G,T), RS1003328548 (8:64581189 G>A,T), RS1004401583 (8:64580504 T>C), RS1004753456 (8:64580755 G>C,T), RS1005134427 (8:64583965 C>T), RS1007462969 (8:64578567 G>T), RS1007640276 (8:64579739 T>C), RS1008029376 (8:64581995 C>T), RS1009080831 (8:64583261 T>C), RS1009441595 (8:64583530 A>G), RS1009809092 (8:64579727 T>C,G)
Disease associations
OMIM: gene MIM:613483 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| neurodevelopmental disorder | Strong | Autosomal dominant |
Mondo (1): neurodevelopmental disorder (MONDO:0700092)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
8 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002701_27 | Verbal declarative memory | 3.000000e-06 |
| GCST005951_62 | Body mass index | 2.000000e-11 |
| GCST006940_169 | Neurociticism | 2.000000e-08 |
| GCST007324_34 | Adventurousness | 3.000000e-08 |
| GCST007325_65 | General risk tolerance (MTAG) | 6.000000e-18 |
| GCST007329_8 | Automobile speeding propensity | 1.000000e-09 |
| GCST007576_185 | Chronotype | 4.000000e-08 |
| GCST008757_35 | Alcohol consumption | 2.000000e-09 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004874 | memory performance |
| EFO:0006805 | word list delayed recall measurement |
| EFO:0004340 | body mass index |
| EFO:0007660 | neuroticism measurement |
| EFO:0008579 | risk-taking behaviour |
| EFO:0008328 | chronotype measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D065886 | Neurodevelopmental Disorders | F03.625 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
16 total (human), top 16 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression, increases methylation | 3 |
| Diethylhexyl Phthalate | decreases expression, decreases methylation, increases abundance, increases methylation | 2 |
| bisphenol A | increases methylation | 1 |
| arsenite | increases methylation | 1 |
| mono-(2-ethylhexyl)phthalate | decreases methylation, increases abundance, increases methylation | 1 |
| sodium arsenite | affects methylation | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| entinostat | decreases expression | 1 |
| Grape Seed Proanthocyanidins | decreases expression, affects cotreatment | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 1 |
| Catechin | affects cotreatment, decreases expression | 1 |
| Cytarabine | increases expression | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Nickel | decreases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
Clinical trials (associated diseases)
202 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT04586348 | PHASE4 | UNKNOWN | Prenatal Iodine Supplementation and Early Childhood Neurodevelopment |
| NCT04873115 | PHASE4 | UNKNOWN | Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties, |
| NCT02559102 | PHASE3 | COMPLETED | Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants |
| NCT02757079 | PHASE3 | COMPLETED | Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders |
| NCT06915480 | PHASE3 | RECRUITING | Reducing Missed Appointments |
| NCT07377032 | PHASE3 | RECRUITING | TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders |
| NCT02909959 | PHASE2 | COMPLETED | Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder |
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Related Atlas pages
- Associated diseases: neurodevelopmental disorder
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): neurodevelopmental disorder