ARL14EP
geneOn this page
Also known as FLJ38968ARF7EP
Summary
ARL14EP (ARF like GTPase 14 effector protein, HGNC:26798) is a protein-coding gene on chromosome 11p14.1, encoding ARL14 effector protein (Q8N8R7). Through its interaction with ARL14 and MYO1E, may connect MHC class II-containing cytoplasmic vesicles to the actin network and hence controls the movement of these vesicles along the actin cytoskeleton in dendritic cells.
The protein encoded by this gene is an effector protein. It interacts with ADP-ribosylation factor-like 14 [ARL14, also known as ADP-ribosylation factor 7 (ARF7)], beta-actin (ACTB) and actin-based motor protein myosin 1E (MYO1E). ARL14 is a small GTPase; it controls the export of major histocompatibility class II molecules by connecting to the actin network via this effector protein.
Source: NCBI Gene 120534 — RefSeq curated summary.
At a glance
- Gene–disease (curated): neurodevelopmental disorder (Limited, GenCC)
- GWAS associations: 10
- Clinical variants (ClinVar): 42 total — 2 pathogenic, 1 likely-pathogenic
- Phenotypes (HPO): 1
- MANE Select transcript:
NM_152316
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26798 |
| Approved symbol | ARL14EP |
| Name | ARF like GTPase 14 effector protein |
| Location | 11p14.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ38968, ARF7EP |
| Ensembl gene | ENSG00000152219 |
| Ensembl biotype | protein_coding |
| OMIM | 612295 |
| Entrez | 120534 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 6 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000282032, ENST00000530909, ENST00000532047, ENST00000533457, ENST00000862264, ENST00000862265, ENST00000918202, ENST00000918203
RefSeq mRNA: 1 — MANE Select: NM_152316
NM_152316
CCDS: CCDS7869
Canonical transcript exons
ENST00000282032 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001004037 | 30330886 | 30331374 |
| ENSE00001217522 | 30332866 | 30332993 |
| ENSE00001400052 | 30336567 | 30338223 |
| ENSE00002177420 | 30323104 | 30323202 |
Expression profiles
Bgee: expression breadth ubiquitous, 248 present calls, max score 97.16.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.6786 / max 244.0114, expressed in 1792 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 113583 | 17.6337 | 1775 |
| 113584 | 2.3831 | 1269 |
| 113582 | 0.3785 | 179 |
| 113585 | 0.2832 | 88 |
Top tissues by expression
257 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 97.16 | gold quality |
| oocyte | CL:0000023 | 96.91 | gold quality |
| calcaneal tendon | UBERON:0003701 | 94.60 | gold quality |
| adrenal tissue | UBERON:0018303 | 93.24 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 92.19 | gold quality |
| embryo | UBERON:0000922 | 91.19 | gold quality |
| ganglionic eminence | UBERON:0004023 | 91.19 | gold quality |
| islet of Langerhans | UBERON:0000006 | 91.16 | gold quality |
| cortical plate | UBERON:0005343 | 91.05 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 90.52 | gold quality |
| gall bladder | UBERON:0002110 | 90.19 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 90.05 | gold quality |
| tendon | UBERON:0000043 | 90.04 | gold quality |
| leukocyte | CL:0000738 | 89.91 | gold quality |
| endothelial cell | CL:0000115 | 89.90 | gold quality |
| monocyte | CL:0000576 | 89.84 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 89.74 | gold quality |
| lymph node | UBERON:0000029 | 89.68 | gold quality |
| right adrenal gland | UBERON:0001233 | 89.67 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 89.47 | gold quality |
| vermiform appendix | UBERON:0001154 | 89.43 | gold quality |
| left ovary | UBERON:0002119 | 89.40 | gold quality |
| left adrenal gland | UBERON:0001234 | 89.35 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 89.29 | gold quality |
| muscle of leg | UBERON:0001383 | 89.17 | gold quality |
| adrenal gland | UBERON:0002369 | 89.01 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 88.93 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 88.90 | silver quality |
| gastrocnemius | UBERON:0001388 | 88.88 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 88.67 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.93 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
67 targeting ARL14EP, 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-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-552-5P | 99.93 | 68.56 | 1583 |
| 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 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-6835-3P | 99.93 | 70.49 | 2904 |
| HSA-MIR-218-5P | 99.93 | 72.22 | 2103 |
| HSA-MIR-8063 | 99.91 | 69.76 | 3146 |
| HSA-MIR-498-3P | 99.91 | 71.27 | 1114 |
| HSA-MIR-4648 | 99.91 | 67.00 | 710 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
| HSA-MIR-345-3P | 99.89 | 70.23 | 1421 |
| HSA-MIR-548D-3P | 99.87 | 70.67 | 4362 |
| HSA-MIR-5582-3P | 99.86 | 72.48 | 4221 |
| HSA-MIR-548BB-3P | 99.86 | 70.58 | 4354 |
| HSA-MIR-383-3P | 99.85 | 65.84 | 1359 |
| HSA-MIR-548AC | 99.84 | 70.77 | 4351 |
Literature-anchored findings (GeneRIF, showing 3)
- RNA-guided epigenetic editing of Sema6a gene promoters via a dCas9-SunTag system with C11orf46 binding normalized SEMA6A expression and rescued transcallosal dysconnectivity via repressive chromatin remodeling by the SETDB1 repressor complex. (PMID:31511512)
- Transcriptome-wide association analyses identify an association between ARL14EP and polycystic ovary syndrome. (PMID:36720993)
- Structural evidence for protein-protein interaction between the non-canonical methyl-CpG-binding domain of SETDB proteins and C11orf46. (PMID:38159574)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | arl14ep | ENSDARG00000001210 |
| mus_musculus | Arl14ep | ENSMUSG00000027122 |
| rattus_norvegicus | Arl14ep | ENSRNOG00000004891 |
Paralogs (7): THAP3 (ENSG00000041988), THAP1 (ENSG00000131931), THAP8 (ENSG00000161277), THAP2 (ENSG00000173451), THAP6 (ENSG00000174796), THAP7 (ENSG00000184436), ARL14EPL (ENSG00000268223)
Protein
Protein identifiers
ARL14 effector protein — Q8N8R7 (reviewed: Q8N8R7)
Alternative names: ARF7 effector protein
All UniProt accessions (2): Q8N8R7, E9PRK7
UniProt curated annotations — full annotation on UniProt →
Function. Through its interaction with ARL14 and MYO1E, may connect MHC class II-containing cytoplasmic vesicles to the actin network and hence controls the movement of these vesicles along the actin cytoskeleton in dendritic cells.
Subunit / interactions. Interacts with ARL14 and MYO1E.
Subcellular location. Cytoplasm.
Tissue specificity. Expressed in the immune system.
RefSeq proteins (1): NP_689529* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR029264 | ARF7EP_C | Domain |
Pfam: PF14949
UniProt features (12 total): strand 2, modified residue 2, sequence conflict 2, turn 2, chain 1, region of interest 1, cross-link 1, sequence variant 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8HFP | X-RAY DIFFRACTION | 1.82 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N8R7-F1 | 80.81 | 0.54 |
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 (3): 1, 183, 177
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 105 (showing top):
GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GAUSSMANN_MLL_AF4_FUSION_TARGETS_G_DN, AACTTT_UNKNOWN, NOUZOVA_TRETINOIN_AND_H4_ACETYLATION, DELASERNA_MYOD_TARGETS_DN, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, BERENJENO_TRANSFORMED_BY_RHOA_UP, GOCC_ANCHORING_JUNCTION, P53_02, chr11p14, ATF5_TARGET_GENES, ATF6_TARGET_GENES, CBX7_TARGET_GENES, CHAF1B_TARGET_GENES, HMG20B_TARGET_GENES
GO Biological Process (0):
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (6): nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytosol (GO:0005829), plasma membrane (GO:0005886), focal adhesion (GO:0005925), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| nuclear lumen | 2 |
| binding | 1 |
| intracellular membraneless organelle | 1 |
| cytoplasm | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cell-substrate junction | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
928 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ARL14EP | ARL14 | Q8N4G2 | 731 |
| ARL14EP | SETDB1 | Q15047 | 669 |
| ARL14EP | SETDB2 | Q96T68 | 659 |
| ARL14EP | ATF7IP | Q6VMQ6 | 575 |
| ARL14EP | MYO1E | Q12965 | 558 |
| ARL14EP | SUOX | P51687 | 504 |
| ARL14EP | DNAJC24 | Q6P3W2 | 503 |
| ARL14EP | TCP11L1 | Q9NUJ3 | 475 |
| ARL14EP | FSHB | P01225 | 474 |
| ARL14EP | OSCP1 | Q8WVF1 | 466 |
| ARL14EP | PLGRKT | Q9HBL7 | 463 |
| ARL14EP | PDRG1 | Q9NUG6 | 449 |
| ARL14EP | ADGRE3 | Q9BY15 | 447 |
| ARL14EP | ZNF526 | Q8TF50 | 444 |
| ARL14EP | NAA50 | Q9GZZ1 | 440 |
IntAct
46 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ARL14EP | SETDB2 | psi-mi:“MI:0915”(physical association) | 0.740 |
| BRK1 | HSBP1 | psi-mi:“MI:0914”(association) | 0.740 |
| ARL14EP | SETDB2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| FAF2 | UBB | psi-mi:“MI:0914”(association) | 0.640 |
| KANK2 | ARL14EP | psi-mi:“MI:0915”(physical association) | 0.560 |
| ATF7IP | ARL14EP | psi-mi:“MI:0915”(physical association) | 0.560 |
| ARL14EP | ARL14 | psi-mi:“MI:0915”(physical association) | 0.540 |
| ARL14 | ARL14EP | psi-mi:“MI:0403”(colocalization) | 0.540 |
| MAGEA1 | MAGEB3 | psi-mi:“MI:0914”(association) | 0.530 |
| ARL14EP | MYO1E | psi-mi:“MI:0915”(physical association) | 0.520 |
| MYO1E | ARL14EP | psi-mi:“MI:0915”(physical association) | 0.520 |
| Setdb1 | INPP5B | psi-mi:“MI:0914”(association) | 0.350 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| PNKD | EXOC5 | psi-mi:“MI:0914”(association) | 0.350 |
| SETDB2 | DHX16 | psi-mi:“MI:0914”(association) | 0.350 |
| ATF7IP | IGHG2 | psi-mi:“MI:0914”(association) | 0.350 |
| VHL | UTRN | psi-mi:“MI:0914”(association) | 0.350 |
| SYNGAP1 | POM121C | psi-mi:“MI:0914”(association) | 0.350 |
| SYNGAP1 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| ARL14EP | ARPC2 | psi-mi:“MI:0914”(association) | 0.350 |
| RNF4 | KPNA3 | psi-mi:“MI:0914”(association) | 0.350 |
| HSF2BP | PRC1 | psi-mi:“MI:0914”(association) | 0.350 |
| BRK1 | KIF5C | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (42): ARL14EP (Two-hybrid), ARL14EP (Affinity Capture-MS), ARL14EP (Affinity Capture-MS), PLEKHF2 (Two-hybrid), ARL14EP (Affinity Capture-MS), ARL14EP (Affinity Capture-MS), ARL14EP (Affinity Capture-MS), ARL14EP (Affinity Capture-MS), ARL14EP (Affinity Capture-MS), ARL14EP (Affinity Capture-MS), ARL14EP (Affinity Capture-MS), ARL14EP (Two-hybrid), KANK2 (Two-hybrid), ARL14EP (Affinity Capture-MS), ARL14EP (Affinity Capture-MS)
ESM2 similar proteins: A0A345BJN7, A0A7H0DN82, B6EU02, O13033, O45595, O93182, P03347, P03348, P03975, P04592, P04593, P05887, P05890, P05892, P0C798, P0C799, P0DP91, P12450, P12495, P13784, P18800, P19199, P27978, P34470, P35962, P40083, P40847, P69730, P69731, P69732, Q02271, Q23243, Q28C26, Q2HEW5, Q54CZ6, Q5EA92, Q5FVK8, Q67708, Q6DRC3, Q6EWG9
Diamond homologs: P0DKL9, Q3UKZ7, Q5EA92, Q5FVK8, Q8BIX3, Q8N8R7
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
42 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 1 |
| Uncertain significance | 28 |
| Likely benign | 2 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (3)
| Variant ID | HGVS | Classification |
|---|---|---|
| 3777757 | Single allele | Pathogenic |
| 563875 | GRCh37/hg19 11p14.1-13(chr11:29883001-33865721)x1 | Pathogenic |
| 183284 | NM_152316.3(ARL14EP):c.653G>A (p.Gly218Glu) | Likely pathogenic |
SpliceAI
822 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:30323198:C:G | donor_gain | 1.0000 |
| 11:30332864:A:AG | acceptor_gain | 1.0000 |
| 11:30332864:AG:A | acceptor_gain | 1.0000 |
| 11:30332865:G:GG | acceptor_gain | 1.0000 |
| 11:30332865:GG:G | acceptor_gain | 1.0000 |
| 11:30332865:GGGAA:G | acceptor_gain | 1.0000 |
| 11:30332989:GACAG:G | donor_gain | 1.0000 |
| 11:30332990:ACAG:A | donor_loss | 1.0000 |
| 11:30332991:CAG:C | donor_loss | 1.0000 |
| 11:30332992:AGGT:A | donor_loss | 1.0000 |
| 11:30332993:GG:G | donor_loss | 1.0000 |
| 11:30332994:G:T | donor_loss | 1.0000 |
| 11:30332995:T:C | donor_loss | 1.0000 |
| 11:30336566:GACAA:G | acceptor_gain | 1.0000 |
| 11:30323188:A:T | donor_gain | 0.9900 |
| 11:30323197:GC:G | donor_gain | 0.9900 |
| 11:30331372:GAT:G | donor_gain | 0.9900 |
| 11:30331375:G:GG | donor_gain | 0.9900 |
| 11:30332860:CTTCA:C | acceptor_loss | 0.9900 |
| 11:30332861:TTCA:T | acceptor_loss | 0.9900 |
| 11:30332864:A:AT | acceptor_loss | 0.9900 |
| 11:30332865:G:A | acceptor_loss | 0.9900 |
| 11:30332998:GC:G | donor_gain | 0.9900 |
| 11:30336561:TTACA:T | acceptor_loss | 0.9900 |
| 11:30336562:TACA:T | acceptor_loss | 0.9900 |
| 11:30336563:ACAG:A | acceptor_loss | 0.9900 |
| 11:30336565:A:AC | acceptor_loss | 0.9900 |
| 11:30336565:A:AG | acceptor_gain | 0.9900 |
| 11:30336566:G:GG | acceptor_gain | 0.9900 |
| 11:30336566:G:GT | acceptor_loss | 0.9900 |
AlphaMissense
1718 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:30336637:T:C | C209R | 1.000 |
| 11:30336643:T:C | C211R | 1.000 |
| 11:30336727:C:A | R239S | 1.000 |
| 11:30336733:T:A | W241R | 1.000 |
| 11:30336733:T:C | W241R | 1.000 |
| 11:30336735:G:C | W241C | 1.000 |
| 11:30336735:G:T | W241C | 1.000 |
| 11:30330961:T:C | C5R | 0.999 |
| 11:30330997:T:C | C17R | 0.999 |
| 11:30331082:G:C | R45T | 0.999 |
| 11:30331083:A:C | R45S | 0.999 |
| 11:30331083:A:T | R45S | 0.999 |
| 11:30331117:T:C | C57R | 0.999 |
| 11:30331119:C:G | C57W | 0.999 |
| 11:30331171:T:C | C75R | 0.999 |
| 11:30331240:G:C | A98P | 0.999 |
| 11:30331294:T:C | C116R | 0.999 |
| 11:30331303:T:A | C119S | 0.999 |
| 11:30331303:T:C | C119R | 0.999 |
| 11:30331304:G:C | C119S | 0.999 |
| 11:30336607:G:C | G199R | 0.999 |
| 11:30336637:T:A | C209S | 0.999 |
| 11:30336638:G:A | C209Y | 0.999 |
| 11:30336638:G:C | C209S | 0.999 |
| 11:30336638:G:T | C209F | 0.999 |
| 11:30336639:T:G | C209W | 0.999 |
| 11:30336641:A:T | D210V | 0.999 |
| 11:30336643:T:A | C211S | 0.999 |
| 11:30336644:G:A | C211Y | 0.999 |
| 11:30336644:G:C | C211S | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000009799 (11:30338353 G>C), RS1000273552 (11:30323590 T>G), RS1000306076 (11:30323374 C>A,T), RS1000380091 (11:30323209 G>A,C), RS1000581550 (11:30336429 G>T), RS1000895010 (11:30329907 A>G), RS1000993227 (11:30336863 T>C), RS1001730938 (11:30333104 A>C,G), RS1001779988 (11:30323772 G>A), RS1001793205 (11:30333718 A>G), RS1001866702 (11:30333375 A>G), RS1001979122 (11:30326860 G>T), RS1002400389 (11:30330318 A>G), RS1002641694 (11:30329744 T>C), RS1002756090 (11:30323455 C>T)
Disease associations
OMIM: gene MIM:612295 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| neurodevelopmental disorder | Limited | Autosomal recessive |
Mondo (2): microcephaly (MONDO:0001149), neurodevelopmental disorder (MONDO:0700092)
Orphanet (0):
HPO phenotypes
1 total (1 of 1 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000252 | Microcephaly |
GWAS associations
10 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005273_5 | Polycystic ovary syndrome | 2.000000e-08 |
| GCST006291_10 | Spherical equivalent or myopia (age of diagnosis) | 2.000000e-08 |
| GCST006624_54 | Systolic blood pressure | 6.000000e-13 |
| GCST006979_786 | Heel bone mineral density | 6.000000e-16 |
| GCST007089_8 | Polycystic ovary syndrome | 9.000000e-13 |
| GCST007565_37 | Morning person | 2.000000e-14 |
| GCST007576_84 | Chronotype | 2.000000e-14 |
| GCST010002_234 | Refractive error | 2.000000e-49 |
| GCST010988_412 | Adult body size | 1.000000e-13 |
| GCST90000050_50 | Age at first birth | 3.000000e-08 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004847 | age at onset |
| EFO:0006335 | systolic blood pressure |
| EFO:0009270 | heel bone mineral density |
| EFO:0008328 | chronotype measurement |
| EFO:0009101 | age at first birth measurement |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D008831 | Microcephaly | C05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500 |
| 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
25 total (human), top 25 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases expression, decreases methylation | 2 |
| Cadmium Chloride | decreases expression, increases abundance, increases expression | 2 |
| TAK-243 | increases sumoylation | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| sodium arsenite | increases expression, increases abundance | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| abrine | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Air Pollutants | increases abundance, decreases expression | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Diethylstilbestrol | increases expression | 1 |
| Folic Acid | decreases expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Polychlorinated Biphenyls | affects expression | 1 |
| Tetrachlorodibenzodioxin | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Zinc | decreases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Aflatoxin M1 | decreases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Particulate Matter | decreases expression, increases abundance | 1 |
Clinical trials (associated diseases)
219 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
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): polycystic ovary syndrome