FOXR1
geneOn this page
Also known as DLNB13FOXN5
Summary
FOXR1 (forkhead box R1, HGNC:29980) is a protein-coding gene on chromosome 11q23.3, encoding Forkhead box protein R1 (Q6PIV2). Transcription factor which acts as both an activator and a repressor.
This gene encodes a member of the forkhead box (FOX) family of transcription factors. FOX family members are monomeric, helix-turn-helix proteins with a core DNA-binding domain of approximately 110 aa. Many FOX transcription factors play roles in determining cell fates during early development. This forkhead box protein lacks the C-terminal basic region found in many other FOX family members. It is located within the 11q23.3 region which is commonly deleted in neuroblastomas.
Source: NCBI Gene 283150 — RefSeq curated summary.
At a glance
- Gene–disease (curated): neurodevelopmental disorder (Moderate, GenCC)
- GWAS associations: 1
- Clinical variants (ClinVar): 51 total — 1 pathogenic
- MANE Select transcript:
NM_181721
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29980 |
| Approved symbol | FOXR1 |
| Name | forkhead box R1 |
| Location | 11q23.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DLNB13, FOXN5 |
| Ensembl gene | ENSG00000176302 |
| Ensembl biotype | protein_coding |
| OMIM | 615755 |
| Entrez | 283150 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 2 protein_coding, 1 nonsense_mediated_decay
ENST00000317011, ENST00000531539, ENST00000533282
RefSeq mRNA: 1 — MANE Select: NM_181721
NM_181721
CCDS: CCDS31688
Canonical transcript exons
ENST00000317011 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001276040 | 118979442 | 118979668 |
| ENSE00001276048 | 118978957 | 118979204 |
| ENSE00001276055 | 118978782 | 118978856 |
| ENSE00001290808 | 118971761 | 118971992 |
| ENSE00001609855 | 118980490 | 118980728 |
| ENSE00001711462 | 118981208 | 118981287 |
Expression profiles
Bgee: expression breadth broad, 50 present calls, max score 87.80.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0075 / max 3.5827, expressed in 4 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 117077 | 0.0075 | 4 |
Top tissues by expression
86 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 87.80 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 85.79 | gold quality |
| right testis | UBERON:0004534 | 67.98 | gold quality |
| testis | UBERON:0000473 | 67.90 | gold quality |
| left testis | UBERON:0004533 | 67.58 | gold quality |
| cortical plate | UBERON:0005343 | 51.52 | gold quality |
| ganglionic eminence | UBERON:0004023 | 42.46 | gold quality |
| bone marrow cell | CL:0002092 | 38.35 | gold quality |
| colonic epithelium | UBERON:0000397 | 37.20 | gold quality |
| prefrontal cortex | UBERON:0000451 | 36.91 | gold quality |
| ventricular zone | UBERON:0003053 | 36.48 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 35.63 | gold quality |
| right ovary | UBERON:0002118 | 35.07 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 34.87 | gold quality |
| bone marrow | UBERON:0002371 | 34.82 | silver quality |
| fundus of stomach | UBERON:0001160 | 33.97 | gold quality |
| frontal cortex | UBERON:0001870 | 33.76 | gold quality |
| hypothalamus | UBERON:0001898 | 32.86 | silver quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 32.47 | gold quality |
| cerebral cortex | UBERON:0000956 | 32.33 | gold quality |
| muscle tissue | UBERON:0002385 | 32.15 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 32.15 | gold quality |
| ovary | UBERON:0000992 | 31.99 | gold quality |
| right coronary artery | UBERON:0001625 | 31.78 | silver quality |
| lymph node | UBERON:0000029 | 31.38 | gold quality |
| urinary bladder | UBERON:0001255 | 31.33 | gold quality |
| skin of leg | UBERON:0001511 | 31.33 | silver quality |
| anterior cingulate cortex | UBERON:0009835 | 31.16 | silver quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 31.15 | silver quality |
| zone of skin | UBERON:0000014 | 31.00 | silver quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.27 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 3)
- FOXR1 is recurrently activated in neuroblastoma by intrachromosomal deletion/fusion events, resulting in overexpression of fusion transcripts (PMID:21860421)
- FOXR1 expression is activated by chromosome 11q23 aberrations in B-cell lymphoma. (PMID:27284737)
- FOXR1 regulates stress response pathways and is necessary for proper brain development. (PMID:34723967)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Foxr1 | ENSMUSG00000074397 |
| rattus_norvegicus | Foxr1 | ENSRNOG00000029089 |
Paralogs (41): FOXP3 (ENSG00000049768), FOXC1 (ENSG00000054598), FOXJ2 (ENSG00000065970), FOXF1 (ENSG00000103241), FOXN1 (ENSG00000109101), FOXM1 (ENSG00000111206), FOXP1 (ENSG00000114861), FOXO3 (ENSG00000118689), FOXA2 (ENSG00000125798), FOXA1 (ENSG00000129514), FOXJ1 (ENSG00000129654), FOXK2 (ENSG00000141568), FOXO1 (ENSG00000150907), FOXH1 (ENSG00000160973), FOXQ1 (ENSG00000164379), FOXK1 (ENSG00000164916), FOXD4 (ENSG00000170122), FOXA3 (ENSG00000170608), FOXB1 (ENSG00000171956), FOXL1 (ENSG00000176678), FOXC2 (ENSG00000176692), FOXE1 (ENSG00000178919), FOXS1 (ENSG00000179772), FOXL2 (ENSG00000183770), FOXO4 (ENSG00000184481), FOXD4L1 (ENSG00000184492), FOXD4L4 (ENSG00000184659), FOXD2 (ENSG00000186564), FOXI2 (ENSG00000186766), FOXE3 (ENSG00000186790), FOXD3 (ENSG00000187140), FOXD4L3 (ENSG00000187559), FOXR2 (ENSG00000189299), FOXJ3 (ENSG00000198815), FOXO6 (ENSG00000204060), FOXB2 (ENSG00000204612), FOXD4L5 (ENSG00000204779), FOXI3 (ENSG00000214336), FOXL3 (ENSG00000248767), FOXD1 (ENSG00000251493)
Protein
Protein identifiers
Forkhead box protein R1 — Q6PIV2 (reviewed: Q6PIV2)
Alternative names: Forkhead box protein N5
All UniProt accessions (2): Q6PIV2, H0YCU3
UniProt curated annotations — full annotation on UniProt →
Function. Transcription factor which acts as both an activator and a repressor. Activates transcription of a number of genes including the heat shock chaperones HSPA1A and HSPA6 and the antioxidant NADPH-dependent reductase DHRS2 which are involved in protection against oxidative stress. Required for normal brain development.
Subcellular location. Nucleus. Cytoplasm. Perinuclear region.
Tissue specificity. Expressed in testis (at protein level).
Disease relevance. Defects in FOXR1 may be the cause of a severe neurological disorder characterized by postnatal microcephaly, progressive brain atrophy and global developmental delay.
Induction. Induced by cellular stress.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6PIV2-1 | 1 | yes |
| Q6PIV2-2 | 2 |
RefSeq proteins (1): NP_859072* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001766 | Fork_head_dom | Domain |
| IPR036388 | WH-like_DNA-bd_sf | Homologous_superfamily |
| IPR036390 | WH_DNA-bd_sf | Homologous_superfamily |
| IPR052328 | FOX_transcription_regulators | Family |
Pfam: PF00250
UniProt features (13 total): compositionally biased region 5, splice variant 2, region of interest 2, chain 1, DNA-binding region 1, sequence variant 1, mutagenesis site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6PIV2-F1 | 67.06 | 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.
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 280–292 | reduced protein expression and formation of nuclear puncta in some cells. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 26 (showing top):
GOBP_HEAD_DEVELOPMENT, HSF2_01, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, GOBP_NEGATIVE_REGULATION_OF_TRANSCRIPTION_BY_RNA_POLYMERASE_II, GOBP_NEGATIVE_REGULATION_OF_NUCLEOBASE_CONTAINING_COMPOUND_METABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_TRANSCRIPTION_BY_RNA_POLYMERASE_II, KUMAR_PATHOGEN_LOAD_BY_MACROPHAGES, GOMF_DNA_BINDING_TRANSCRIPTION_ACTIVATOR_ACTIVITY, GOMF_DNA_BINDING_TRANSCRIPTION_REPRESSOR_ACTIVITY, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, HMGA1_TARGET_GENES, GOBP_POSITIVE_REGULATION_OF_RNA_METABOLIC_PROCESS, GOMF_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY, JONES_OVARY_OOCYTE, GOBP_NEGATIVE_REGULATION_OF_RNA_BIOSYNTHETIC_PROCESS
GO Biological Process (5): regulation of transcription by RNA polymerase II (GO:0006357), brain development (GO:0007420), positive regulation of transcription by RNA polymerase II (GO:0045944), negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of DNA-templated transcription (GO:0006355)
GO Molecular Function (8): DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), protein binding (GO:0005515), sequence-specific DNA binding (GO:0043565)
GO Cellular Component (4): chromatin (GO:0000785), nucleus (GO:0005634), cytoplasm (GO:0005737), perinuclear region of cytoplasm (GO:0048471)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| transcription by RNA polymerase II | 3 |
| regulation of transcription by RNA polymerase II | 3 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 3 |
| cellular anatomical structure | 3 |
| regulation of DNA-templated transcription | 2 |
| DNA-binding transcription factor activity, RNA polymerase II-specific | 2 |
| central nervous system development | 1 |
| animal organ development | 1 |
| head development | 1 |
| positive regulation of DNA-templated transcription | 1 |
| negative regulation of DNA-templated transcription | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| negative regulation of transcription by RNA polymerase II | 1 |
| DNA-binding transcription repressor activity | 1 |
| DNA-binding transcription activator activity | 1 |
| positive regulation of transcription by RNA polymerase II | 1 |
| double-stranded DNA binding | 1 |
| sequence-specific DNA binding | 1 |
| nucleic acid binding | 1 |
| transcription cis-regulatory region binding | 1 |
| transcription regulator activity | 1 |
| binding | 1 |
| DNA binding | 1 |
| chromosome | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
718 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| FOXR1 | PAFAH1B2 | P68402 | 506 |
| FOXR1 | UPK2 | O00526 | 465 |
| FOXR1 | RNF26 | Q9BY78 | 452 |
| FOXR1 | FAM187A | A6NFU0 | 452 |
| FOXR1 | RPS25 | P25111 | 414 |
| FOXR1 | CENATAC | Q86UT8 | 393 |
| FOXR1 | PHLDB1 | Q86UU1 | 391 |
| FOXR1 | BCL9L | Q86UU0 | 369 |
| FOXR1 | FOXP4 | Q8IVH2 | 366 |
| FOXR1 | TEX9 | Q8N6V9 | 342 |
| FOXR1 | SPMIP5 | Q8WW14 | 342 |
| FOXR1 | A0A3B3IT14 | A0A3B3IT14 | 335 |
| FOXR1 | C2CD2L | O14523 | 327 |
| FOXR1 | ZAR1 | Q86SH2 | 325 |
| FOXR1 | POU6F2 | P78424 | 323 |
IntAct
91 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PPCDC | FOXR1 | psi-mi:“MI:0915”(physical association) | 0.780 |
| FOXR1 | PPCDC | psi-mi:“MI:0915”(physical association) | 0.780 |
| FOXR1 | YEATS4 | psi-mi:“MI:0914”(association) | 0.640 |
| FOXR1 | MEOX2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FOXR1 | FLJ13057 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FOXR1 | BANP | psi-mi:“MI:0915”(physical association) | 0.560 |
| BANP | FOXR1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FOXR1 | CEP19 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FOXR1 | DPPA4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FOXR1 | GMCL1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FOXR1 | A2M | psi-mi:“MI:0915”(physical association) | 0.560 |
| FOXR1 | APBB2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FOXR1 | DMWD | psi-mi:“MI:0915”(physical association) | 0.560 |
| FOXR1 | DNM2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FOXR1 | TOR1A | psi-mi:“MI:0915”(physical association) | 0.560 |
| FOXR1 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| FOXR1 | MECP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FOXR1 | PMP22 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (94): FOXR1 (Two-hybrid), FOXR1 (Two-hybrid), FOXR1 (Two-hybrid), FOXR1 (Two-hybrid), EP400 (Affinity Capture-MS), MEAF6 (Affinity Capture-MS), EPC1 (Affinity Capture-MS), EPC2 (Affinity Capture-MS), DMAP1 (Affinity Capture-MS), TRRAP (Affinity Capture-MS), SULT1A1 (Affinity Capture-MS), BRD8 (Affinity Capture-MS), VPS72 (Affinity Capture-MS), ING3 (Affinity Capture-MS), MYC (Affinity Capture-MS)
ESM2 similar proteins: A1A4L6, A2CI98, A2CJ06, O09139, O35254, O94966, O95238, P0C6P5, P15036, P15037, P19102, P59729, P78545, P97433, Q01094, Q14209, Q28F43, Q2KHT9, Q3UPW2, Q3UTB7, Q4V7E1, Q5EB20, Q5PQS0, Q5XIS1, Q61501, Q66IG8, Q6DGF9, Q6NZK8, Q6P1I6, Q6PIV2, Q6ZTZ1, Q76I79, Q7TSI1, Q80U38, Q8BLR5, Q8IUY3, Q8K330, Q8NC06, Q8TB24, Q8TE77
Diamond homologs: A0A078BQN7, A0A1W2PRP0, A0A8V0YY16, A1L1S5, A3KNJ3, A8MTJ6, A8XJN7, B5RHS5, D3Z120, F1R8Z9, O00358, O17617, O43638, O54743, O60129, O88470, P32027, P32028, P32030, P32315, P42128, P55316, P56260, P58012, P79772, P85037, P91278, Q00939, Q01167, Q02360, Q12946, Q12947, Q12948, Q12950, Q12951, Q12952, Q13461, Q19802, Q1A1A1, Q1A1A2
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
51 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 42 |
| Likely benign | 3 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 253520 | GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3 | Pathogenic |
SpliceAI
960 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:118971988:GAAAC:G | donor_gain | 1.0000 |
| 11:118971989:AAACG:A | donor_loss | 1.0000 |
| 11:118971990:AAC:A | donor_gain | 1.0000 |
| 11:118971991:AC:A | donor_gain | 1.0000 |
| 11:118971991:ACGTG:A | donor_loss | 1.0000 |
| 11:118971993:G:GG | donor_gain | 1.0000 |
| 11:118979171:G:GT | donor_gain | 1.0000 |
| 11:118971989:AAAC:A | donor_gain | 0.9900 |
| 11:118971994:T:A | donor_loss | 0.9900 |
| 11:118978780:A:AG | acceptor_gain | 0.9900 |
| 11:118978781:G:GA | acceptor_gain | 0.9900 |
| 11:118978852:GGATG:G | donor_gain | 0.9900 |
| 11:118978853:GATGG:G | donor_gain | 0.9900 |
| 11:118979200:GGGAG:G | donor_gain | 0.9900 |
| 11:118979201:GGAGG:G | donor_gain | 0.9900 |
| 11:118979202:G:GT | donor_gain | 0.9900 |
| 11:118979202:G:T | donor_gain | 0.9900 |
| 11:118979205:G:C | donor_loss | 0.9900 |
| 11:118979440:A:AG | acceptor_gain | 0.9900 |
| 11:118979441:G:GG | acceptor_gain | 0.9900 |
| 11:118980488:A:AG | acceptor_gain | 0.9900 |
| 11:118980489:G:GG | acceptor_gain | 0.9900 |
| 11:118980489:GAAA:G | acceptor_gain | 0.9900 |
| 11:118980699:A:T | donor_gain | 0.9900 |
| 11:118978780:AGTT:A | acceptor_gain | 0.9800 |
| 11:118978781:GTTG:G | acceptor_gain | 0.9800 |
| 11:118978955:A:AG | acceptor_gain | 0.9800 |
| 11:118978956:G:GG | acceptor_gain | 0.9800 |
| 11:118979015:T:TA | acceptor_gain | 0.9800 |
| 11:118979201:GGAG:G | donor_gain | 0.9800 |
AlphaMissense
1911 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:118980527:T:A | W217R | 0.997 |
| 11:118980527:T:C | W217R | 0.997 |
| 11:118980529:G:C | W217C | 0.996 |
| 11:118980529:G:T | W217C | 0.996 |
| 11:118980569:T:C | F231L | 0.996 |
| 11:118980571:T:A | F231L | 0.996 |
| 11:118980571:T:G | F231L | 0.996 |
| 11:118980631:G:C | W251C | 0.996 |
| 11:118980631:G:T | W251C | 0.996 |
| 11:118980540:T:A | V221D | 0.995 |
| 11:118979661:T:C | F202L | 0.994 |
| 11:118979663:C:A | F202L | 0.994 |
| 11:118979663:C:G | F202L | 0.994 |
| 11:118980497:T:C | F207L | 0.994 |
| 11:118980499:C:A | F207L | 0.994 |
| 11:118980499:C:G | F207L | 0.994 |
| 11:118980506:T:C | F210L | 0.994 |
| 11:118980508:C:A | F210L | 0.994 |
| 11:118980508:C:G | F210L | 0.994 |
| 11:118980532:G:C | K218N | 0.994 |
| 11:118980532:G:T | K218N | 0.994 |
| 11:118980545:C:G | H223D | 0.994 |
| 11:118980629:T:A | W251R | 0.994 |
| 11:118980629:T:C | W251R | 0.994 |
| 11:118980547:C:A | H223Q | 0.992 |
| 11:118980547:C:G | H223Q | 0.992 |
| 11:118980503:T:C | F209L | 0.991 |
| 11:118980505:T:A | F209L | 0.991 |
| 11:118980505:T:G | F209L | 0.991 |
| 11:118980507:T:C | F210S | 0.991 |
dbSNP variants (sampled 300 via entrez): RS1000345189 (11:118971596 C>G), RS1000420406 (11:118971298 CAG>C), RS1000536717 (11:118972756 T>C), RS1000639502 (11:118977824 C>A,T), RS1001220690 (11:118972619 T>C), RS1001327972 (11:118978565 A>C), RS1001534223 (11:118972210 TG>T,TGG), RS1001908013 (11:118979506 A>C,G), RS1001963865 (11:118971825 TCCGCGCCG>T,TCCGCGCCGCCGCGCCG), RS1002034547 (11:118973253 A>G), RS1002041028 (11:118973541 A>G), RS1002335717 (11:118977096 T>A), RS1002711784 (11:118976488 C>T), RS1003171334 (11:118981013 A>T), RS1003251776 (11:118973430 T>C)
Disease associations
OMIM: gene MIM:615755 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| neurodevelopmental disorder | Moderate | Autosomal dominant |
Mondo (1): neurodevelopmental disorder (MONDO:0700092)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST009798_24 | Asthma | 4.000000e-11 |
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
5 total (human), top 5 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Arsenic | affects methylation | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Silicon Dioxide | decreases expression | 1 |
| 8-Bromo Cyclic Adenosine Monophosphate | increases expression | 1 |
| Cadmium Chloride | decreases expression, increases abundance | 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 |
| NCT06081348 | PHASE2 | RECRUITING | Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders |
| NCT06352372 | PHASE2 | COMPLETED | Safety and Efficacy of tPBM for Epileptiform Activity in Autism |
| NCT00503191 | PHASE1 | COMPLETED | NeuroModulation Technique Treatment of Autism |
| NCT04475848 | PHASE1 | COMPLETED | A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants |
| NCT06300398 | PHASE1 | COMPLETED | IAMA-6 Oral Dose Study in Healthy Adults |
| NCT01783041 | PHASE2/PHASE3 | COMPLETED | Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants |
| NCT05767385 | PHASE2/PHASE3 | RECRUITING | Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior |
| NCT05675098 | EARLY_PHASE1 | NOT_YET_RECRUITING | Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy |
| NCT00783783 | Not specified | COMPLETED | CYP2D6 Pharmacogenetics in Risperidone-Treated Children |
| NCT01778504 | Not specified | RECRUITING | Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders |
| NCT01850784 | Not specified | UNKNOWN | High Energy Formula Feeding in Infants With Congenital Heart Disease |
| NCT01922791 | Not specified | COMPLETED | Nutrition and Pregnancy Intervention Study |
| NCT01942525 | Not specified | UNKNOWN | Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants |
| NCT02003170 | Not specified | COMPLETED | Etiology and Early Diagnosis of Neurodevelopmental Disorders |
| NCT02118649 | Not specified | ACTIVE_NOT_RECRUITING | Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game |
| NCT02557191 | Not specified | TERMINATED | Biomarkers, Neurodevelopment and Preterm Infants |
| NCT02690675 | Not specified | COMPLETED | Iron Supplement Effect on Child Development |
| NCT02694003 | Not specified | COMPLETED | Better Nights, Better Days for Children With Neurodevelopment Disorders |
| NCT02792894 | Not specified | COMPLETED | Family Networks (FaNs) for Children With Developmental Disorders and Delays |
| NCT02871674 | Not specified | UNKNOWN | Good Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial |
| NCT02887157 | Not specified | COMPLETED | Analyzing Retinal Microanatomy in ROP |
| NCT02898298 | Not specified | COMPLETED | Positive Emotion Regulation Training in Children, Adolescents and Young Adults With and Without Developmental Disorder |
| NCT02912780 | Not specified | UNKNOWN | Introduction of Microsystems in a Level 3 Neonatal Intensive Care Unit |
| NCT03023293 | Not specified | COMPLETED | n-3 PUFAs, Irisin and Maternal Glucose Metabolism From Pregnancy to Postpartum |
| NCT03023644 | Not specified | COMPLETED | Improving Neurodevelopmental Outcomes in Children With Congenital Heart Disease: An Intervention Study |
| NCT03032991 | Not specified | UNKNOWN | Early Biomarkers of Neurodevelopment in Offspring of Diabetic Mothers |
| NCT03088189 | Not specified | TERMINATED | Effect of Parental Peri-conceptional Vitamin B12 Supplementation on Infant Neurocognitive Development in Offspring |
| NCT03096028 | Not specified | COMPLETED | Developmental Origins of Mental Health Disorders |
| NCT03148782 | Not specified | COMPLETED | Brain Plasticity Underlying Acquisition of New Organizational Skills in Children-R61 Phase |
| NCT03172104 | Not specified | COMPLETED | Neurobehavioural Development of Infants Born <30 Weeks Gestational Age Between Birth and Five Years of Age |
| NCT03222375 | Not specified | RECRUITING | SQUED™ Series 28.1 Home-use and Treatment of Autowave Reverberator of Autism |
| NCT03229928 | Not specified | COMPLETED | Clinical Testing of a Real-Time Behavior Measurement Tool: Measuring Outcomes for CHAnge |
| NCT03232489 | Not specified | UNKNOWN | Study for the Evaluation of the Feasibility of Applying Advanced MRI Scanning in Pediatric Clinical Practice |
Related Atlas pages
- Associated diseases: neurodevelopmental disorder