ARHGEF38
geneOn this page
Also known as FLJ20184
Summary
ARHGEF38 (Rho guanine nucleotide exchange factor 38, HGNC:25968) is a protein-coding gene on chromosome 4q24, encoding Rho guanine nucleotide exchange factor 38 (Q9NXL2). May act as a guanine-nucleotide releasing factor.
Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be active in cytoplasm.
Source: NCBI Gene 54848 — RefSeq curated summary.
At a glance
- Gene–disease (curated): cleft lip/palate (Moderate, GenCC) — +1 more curated relationship
- GWAS associations: 7
- Clinical variants (ClinVar): 119 total
- Phenotypes (HPO): 21
- MANE Select transcript:
NM_001242729
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25968 |
| Approved symbol | ARHGEF38 |
| Name | Rho guanine nucleotide exchange factor 38 |
| Location | 4q24 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ20184 |
| Ensembl gene | ENSG00000236699 |
| Ensembl biotype | protein_coding |
| OMIM | 619919 |
| Entrez | 54848 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 5 protein_coding_CDS_not_defined, 2 protein_coding
ENST00000265154, ENST00000420470, ENST00000503289, ENST00000506828, ENST00000508036, ENST00000508961, ENST00000510406
RefSeq mRNA: 2 — MANE Select: NM_001242729
NM_001242729, NM_017700
CCDS: CCDS3670, CCDS56338
Canonical transcript exons
ENST00000420470 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000801533 | 105552620 | 105552961 |
| ENSE00001632662 | 105677752 | 105680914 |
| ENSE00001747068 | 105667444 | 105667703 |
| ENSE00002055485 | 105630898 | 105631045 |
| ENSE00003473346 | 105589248 | 105589435 |
| ENSE00003477396 | 105659054 | 105659365 |
| ENSE00003479552 | 105613384 | 105613507 |
| ENSE00003505366 | 105648549 | 105648682 |
| ENSE00003527665 | 105636403 | 105636420 |
| ENSE00003541230 | 105654065 | 105654169 |
| ENSE00003548183 | 105667129 | 105667327 |
| ENSE00003556160 | 105655603 | 105655722 |
| ENSE00003594119 | 105645188 | 105645387 |
| ENSE00003645706 | 105666177 | 105666320 |
Expression profiles
Bgee: expression breadth ubiquitous, 165 present calls, max score 85.17.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.8995 / max 131.2874, expressed in 135 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 49145 | 0.5836 | 107 |
| 49148 | 0.1442 | 52 |
| 49146 | 0.0936 | 46 |
| 49144 | 0.0404 | 22 |
| 49147 | 0.0378 | 22 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| body of pancreas | UBERON:0001150 | 85.17 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 83.59 | gold quality |
| colonic epithelium | UBERON:0000397 | 80.33 | gold quality |
| metanephros cortex | UBERON:0010533 | 78.78 | gold quality |
| rectum | UBERON:0001052 | 78.28 | gold quality |
| pancreas | UBERON:0001264 | 78.17 | gold quality |
| right uterine tube | UBERON:0001302 | 77.52 | gold quality |
| gall bladder | UBERON:0002110 | 77.50 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 77.28 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 77.03 | gold quality |
| hair follicle | UBERON:0002073 | 76.88 | gold quality |
| minor salivary gland | UBERON:0001830 | 75.78 | gold quality |
| type B pancreatic cell | CL:0000169 | 75.58 | gold quality |
| olfactory bulb | UBERON:0002264 | 75.48 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 74.51 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 72.22 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 72.02 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 71.80 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 71.30 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 71.19 | gold quality |
| mouth mucosa | UBERON:0003729 | 71.19 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 71.05 | gold quality |
| islet of Langerhans | UBERON:0000006 | 70.49 | gold quality |
| prostate gland | UBERON:0002367 | 70.47 | gold quality |
| body of stomach | UBERON:0001161 | 70.41 | gold quality |
| transverse colon | UBERON:0001157 | 69.77 | gold quality |
| upper lobe of lung | UBERON:0008948 | 69.76 | gold quality |
| tibialis anterior | UBERON:0001385 | 69.66 | silver quality |
| stomach | UBERON:0000945 | 68.83 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 68.53 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-119 | yes | 46.51 |
| E-ANND-3 | yes | 18.30 |
| E-GEOD-36552 | no | 13.07 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
40 targeting ARHGEF38, 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-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-6798-5P | 100.00 | 65.77 | 699 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-4778-3P | 99.93 | 70.40 | 1818 |
| HSA-MIR-6508-5P | 99.92 | 70.67 | 2465 |
| HSA-MIR-3681-3P | 99.88 | 70.46 | 2254 |
| HSA-MIR-8067 | 99.86 | 69.59 | 2260 |
| HSA-MIR-6875-3P | 99.82 | 70.26 | 2983 |
| HSA-MIR-4668-5P | 99.79 | 70.58 | 3782 |
| HSA-MIR-200A-5P | 99.76 | 69.10 | 949 |
| HSA-MIR-200B-5P | 99.76 | 69.05 | 948 |
| HSA-MIR-1255A | 99.74 | 68.09 | 744 |
| HSA-MIR-1255B-5P | 99.74 | 68.16 | 741 |
| HSA-MIR-3059-5P | 99.70 | 69.93 | 2491 |
| HSA-MIR-466 | 99.67 | 70.85 | 2863 |
| HSA-MIR-548AV-5P | 99.60 | 70.84 | 2107 |
| HSA-MIR-548K | 99.60 | 70.84 | 2107 |
| HSA-MIR-3942-3P | 99.57 | 69.03 | 2854 |
| HSA-MIR-6716-5P | 99.56 | 68.62 | 1244 |
| HSA-MIR-8054 | 99.48 | 70.81 | 2084 |
| HSA-MIR-208A-5P | 99.42 | 70.83 | 1913 |
| HSA-MIR-208B-5P | 99.42 | 70.83 | 1952 |
Literature-anchored findings (GeneRIF, showing 1)
- Genome-wide analysis of copy-number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes. (PMID:36493769)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | arhgef38 | ENSDARG00000079377 |
| mus_musculus | Arhgef38 | ENSMUSG00000040969 |
| rattus_norvegicus | Arhgef38 | ENSRNOG00000023965 |
| caenorhabditis_elegans | WBGENE00044989 |
Paralogs (2): DNMBP (ENSG00000107554), ARHGEF37 (ENSG00000183111)
Protein
Protein identifiers
Rho guanine nucleotide exchange factor 38 — Q9NXL2 (reviewed: Q9NXL2)
All UniProt accessions (1): Q9NXL2
UniProt curated annotations — full annotation on UniProt →
Function. May act as a guanine-nucleotide releasing factor.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NXL2-2 | 2 | yes |
| Q9NXL2-1 | 1 |
RefSeq proteins (2): NP_001229658, NP_060170 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000219 | DH_dom | Domain |
| IPR001452 | SH3_domain | Domain |
| IPR004148 | BAR_dom | Domain |
| IPR027267 | AH/BAR_dom_sf | Homologous_superfamily |
| IPR035899 | DBL_dom_sf | Homologous_superfamily |
| IPR036028 | SH3-like_dom_sf | Homologous_superfamily |
| IPR051492 | Dynamin-Rho_GEF | Family |
Pfam: PF00621, PF03114, PF07653, PF14604
UniProt features (14 total): domain 4, compositionally biased region 3, sequence variant 2, region of interest 2, chain 1, modified residue 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NXL2-F1 | 75.04 | 0.38 |
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): 34
Function
Pathways and Gene Ontology
Reactome pathways
8 pathways
| ID | Pathway |
|---|---|
| R-HSA-193648 | NRAGE signals death through JNK |
| R-HSA-416482 | G alpha (12/13) signalling events |
| R-HSA-162582 | Signal Transduction |
| R-HSA-193704 | p75 NTR receptor-mediated signalling |
| R-HSA-204998 | Cell death signalling via NRAGE, NRIF and NADE |
| R-HSA-372790 | Signaling by GPCR |
| R-HSA-388396 | GPCR downstream signalling |
| R-HSA-73887 | Death Receptor Signaling |
MSigDB gene sets: 170 (showing top):
GSE45365_NK_CELL_VS_CD8A_DC_DN, RRAGTTGT_UNKNOWN, BENPORATH_ES_WITH_H3K27ME3, chr4q24, AREB6_03, REACTOME_NRAGE_SIGNALS_DEATH_THROUGH_JNK, TGACCTY_ERR1_Q2, MEF2_02, FOXO4_01, CEBP_Q2, NKX62_Q2, E12_Q6, DBP_Q6, MEF2_Q6_01, CTAWWWATA_RSRFC4_Q2
GO Biological Process (0):
GO Molecular Function (2): guanyl-nucleotide exchange factor activity (GO:0005085), protein binding (GO:0005515)
GO Cellular Component (1): cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-6 pathways:
| Category | Pathways |
|---|---|
| Signal Transduction | 2 |
| Cell death signalling via NRAGE, NRIF and NADE | 1 |
| GPCR downstream signalling | 1 |
| Death Receptor Signaling | 1 |
| p75 NTR receptor-mediated signalling | 1 |
| Signaling by GPCR | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| GTP binding | 1 |
| GDP binding | 1 |
| GTPase regulator activity | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
874 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ARHGEF38 | INTS12 | Q96CB8 | 601 |
| ARHGEF38 | ARHGEF16 | Q5VV41 | 561 |
| ARHGEF38 | GSTCD | Q8NEC7 | 544 |
| ARHGEF38 | ARHGEF19 | Q8IW93 | 540 |
| ARHGEF38 | IFRD2 | Q12894 | 488 |
| ARHGEF38 | SH3YL1 | Q96HL8 | 473 |
| ARHGEF38 | ARHGEF33 | A8MVX0 | 470 |
| ARHGEF38 | ARHGAP9 | Q9BRR9 | 456 |
| ARHGEF38 | PRR36 | Q9H6K5 | 448 |
| ARHGEF38 | PLEC | Q15149 | 447 |
| ARHGEF38 | PLEKHG7 | Q6ZR37 | 438 |
| ARHGEF38 | FCHSD1 | Q86WN1 | 427 |
| ARHGEF38 | OR2T10 | Q8NGZ9 | 417 |
| ARHGEF38 | NGEF | Q8N5V2 | 410 |
| ARHGEF38 | ASB14 | A6NK59 | 410 |
IntAct
4 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ARHGEF38 | ADAM10 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ARHGEF38 | CLASP1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ARHGEF38 | CLASP1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (7): CLASP1 (Affinity Capture-MS), TMEM261 (Affinity Capture-MS), ARHGEF38 (Affinity Capture-RNA), ARHGEF38 (Two-hybrid), ARHGEF38 (Affinity Capture-MS), CLASP1 (Affinity Capture-MS), ARHGEF38 (Co-fractionation)
ESM2 similar proteins: A1IGU3, A1IGU4, A1IGU5, A6QP29, B1AVH7, B2RUP2, B5DFA1, D2H0G5, D3ZFJ3, O15068, O55043, P00530, P07332, P14238, P16879, P55194, P98171, Q0GNC1, Q14155, Q15052, Q27J81, Q3U5C8, Q3UMR0, Q58EX7, Q5VV41, Q5XXR3, Q5ZLR6, Q60I26, Q63406, Q64096, Q6PFY1, Q6PGG2, Q70J99, Q7TNH6, Q80TT2, Q80VK6, Q86WN1, Q8C2K1, Q8C6B2, Q8CJ00
Diamond homologs: A1IGU3, A1IGU4, A1IGU5, A1ZAY1, E7F1U2, O15068, O15085, O77775, P10569, P15498, P19878, P35991, Q08DN7, Q3LAC4, Q5DU57, Q60992, Q63406, Q69ZK0, Q70Z35, Q80VK6, Q8TCU6, Q96N96, Q9NHV9, Q9NXL2, O60229, P40995, Q1LUA6, Q5BKC9, Q5RDX5, Q64096, Q6RFZ7, Q8CHT1, Q8N5V2, Q9ES67, P52735, Q55E26, Q6TXD4, A1CEK6, A1DFN5, A2QW93
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
119 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 110 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3474 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:105570050:G:GT | donor_gain | 1.0000 |
| 4:105570081:C:G | donor_gain | 1.0000 |
| 4:105589406:G:T | donor_gain | 1.0000 |
| 4:105613498:C:T | donor_gain | 1.0000 |
| 4:105613501:G:GG | donor_gain | 1.0000 |
| 4:105630890:T:G | acceptor_gain | 1.0000 |
| 4:105631046:G:GG | donor_gain | 1.0000 |
| 4:105635714:G:GT | donor_gain | 1.0000 |
| 4:105645186:A:AG | acceptor_gain | 1.0000 |
| 4:105645187:G:GG | acceptor_gain | 1.0000 |
| 4:105645342:GACAT:G | donor_gain | 1.0000 |
| 4:105645378:A:T | donor_gain | 1.0000 |
| 4:105648543:TTTCA:T | acceptor_loss | 1.0000 |
| 4:105648546:CA:C | acceptor_loss | 1.0000 |
| 4:105648547:A:AG | acceptor_gain | 1.0000 |
| 4:105648547:AG:A | acceptor_loss | 1.0000 |
| 4:105648548:G:GA | acceptor_gain | 1.0000 |
| 4:105648548:GTT:G | acceptor_gain | 1.0000 |
| 4:105648548:GTTCT:G | acceptor_gain | 1.0000 |
| 4:105648678:CACAG:C | donor_loss | 1.0000 |
| 4:105648679:ACAG:A | donor_loss | 1.0000 |
| 4:105648680:CAGGT:C | donor_loss | 1.0000 |
| 4:105648681:AGG:A | donor_loss | 1.0000 |
| 4:105648682:GGTA:G | donor_loss | 1.0000 |
| 4:105648683:G:A | donor_loss | 1.0000 |
| 4:105648684:T:A | donor_loss | 1.0000 |
| 4:105655593:T:A | acceptor_gain | 1.0000 |
| 4:105655594:G:A | acceptor_gain | 1.0000 |
| 4:105655598:TTCA:T | acceptor_loss | 1.0000 |
| 4:105655600:CAG:C | acceptor_loss | 1.0000 |
AlphaMissense
5176 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 4:105659238:T:C | L473P | 0.999 |
| 4:105677798:T:C | L732P | 0.999 |
| 4:105645240:C:A | R243S | 0.998 |
| 4:105645274:T:C | L254P | 0.998 |
| 4:105648628:G:C | K318N | 0.998 |
| 4:105648628:G:T | K318N | 0.998 |
| 4:105659137:A:C | K439N | 0.998 |
| 4:105659137:A:T | K439N | 0.998 |
| 4:105659139:G:C | R440P | 0.998 |
| 4:105659250:T:C | L477P | 0.998 |
| 4:105677822:T:A | V740D | 0.998 |
| 4:105677863:T:A | W754R | 0.998 |
| 4:105677863:T:C | W754R | 0.998 |
| 4:105677865:G:C | W754C | 0.998 |
| 4:105677865:G:T | W754C | 0.998 |
| 4:105677866:T:A | W755R | 0.998 |
| 4:105677866:T:C | W755R | 0.998 |
| 4:105677900:T:A | V766E | 0.998 |
| 4:105589356:T:C | L102P | 0.997 |
| 4:105645239:A:C | Q242H | 0.997 |
| 4:105645239:A:T | Q242H | 0.997 |
| 4:105645241:G:C | R243P | 0.997 |
| 4:105648640:A:C | R322S | 0.997 |
| 4:105648640:A:T | R322S | 0.997 |
| 4:105659138:C:A | R440S | 0.997 |
| 4:105659226:T:C | L469P | 0.997 |
| 4:105677773:T:C | F724L | 0.997 |
| 4:105677775:T:A | F724L | 0.997 |
| 4:105677775:T:G | F724L | 0.997 |
| 4:105677804:T:C | L734P | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000021911 (4:105578198 G>A), RS1000033053 (4:105616636 G>A), RS1000078520 (4:105658930 G>A), RS1000092176 (4:105657066 T>C,G), RS1000092312 (4:105664740 G>A), RS1000111640 (4:105578606 A>G), RS1000117855 (4:105653507 G>A), RS1000143798 (4:105657687 CTTTG>C), RS1000178168 (4:105591822 A>C,T), RS1000197853 (4:105671442 G>A), RS1000203983 (4:105584092 G>A), RS1000204945 (4:105623330 G>A), RS1000206775 (4:105612929 A>G), RS1000208002 (4:105612107 G>T), RS1000257328 (4:105623057 T>C)
Disease associations
OMIM: gene MIM:619919 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| cleft lip/palate | Moderate | Autosomal dominant |
| autism spectrum disorder | Limited | Autosomal dominant |
Mondo (2): autism spectrum disorder (MONDO:0005258), cleft lip/palate (MONDO:0016044)
Orphanet (0):
HPO phenotypes
21 total (21 of 21 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000175 | Cleft palate |
| HP:0000202 | Orofacial cleft |
| HP:0000220 | Velopharyngeal insufficiency |
| HP:0000327 | Hypoplasia of the maxilla |
| HP:0000403 | Recurrent otitis media |
| HP:0000405 | Conductive hearing impairment |
| HP:0000689 | Dental malocclusion |
| HP:0000750 | Delayed speech and language development |
| HP:0001611 | Hypernasal speech |
| HP:0002033 | Poor suck |
| HP:0004395 | Malnutrition |
| HP:0006292 | Abnormality of dental eruption |
| HP:0006342 | Peg-shaped maxillary lateral incisors |
| HP:0008872 | Feeding difficulties in infancy |
| HP:0009088 | Speech articulation difficulties |
| HP:0010294 | Palate fistula |
| HP:0011044 | Abnormal number of permanent teeth |
| HP:0100334 | Unilateral cleft palate |
| HP:0100337 | Bilateral cleft palate |
| HP:0200136 | Oral-pharyngeal dysphagia |
| HP:0200153 | Agenesis of lateral incisor |
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000542_6 | Pulmonary function | 5.000000e-17 |
| GCST003264_1326 | Post bronchodilator FEV1/FVC ratio | 2.000000e-06 |
| GCST004147_7 | Chronic obstructive pulmonary disease | 3.000000e-10 |
| GCST004554_1 | Weight | 3.000000e-08 |
| GCST006922_11 | Regular attendance at a religious group | 5.000000e-09 |
| GCST007018_8 | Serum bilirubin levels in metabolic syndrome | 4.000000e-06 |
| GCST007202_12 | High density lipoprotein cholesterol levels | 8.000000e-07 |
EFO canonical traits (7, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0003892 | pulmonary function measurement |
| EFO:0004314 | forced expiratory volume |
| EFO:0004713 | FEV/FVC ratio |
| EFO:0004338 | body weight |
| EFO:0009592 | social interaction measurement |
| EFO:0004570 | bilirubin measurement |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
13 total (human), top 13 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol F | affects cotreatment, increases methylation | 1 |
| bisphenol A | affects cotreatment, increases methylation | 1 |
| beta-lapachone | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| perfluorohexanesulfonic acid | increases expression | 1 |
| bisphenol S | decreases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Benzo(a)pyrene | affects methylation, decreases methylation, increases methylation | 1 |
| Cadmium | increases abundance, decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Cadmium Chloride | decreases expression, increases abundance | 1 |
| Okadaic Acid | decreases expression | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00391261 | PHASE4 | COMPLETED | An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications. |
| NCT01028820 | PHASE4 | COMPLETED | FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders |
| NCT01333865 | PHASE4 | COMPLETED | A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders |
| NCT01337700 | PHASE4 | COMPLETED | Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism |
| NCT01695200 | PHASE4 | COMPLETED | Omega-3 Fatty Acids in Autism Spectrum Disorders |
| NCT02096952 | PHASE4 | COMPLETED | Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD |
| NCT02235467 | PHASE4 | COMPLETED | Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism |
| NCT02940574 | PHASE4 | COMPLETED | Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders |
| NCT03333629 | PHASE4 | COMPLETED | Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes |
| NCT03337646 | PHASE4 | COMPLETED | Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism |
| NCT03538431 | PHASE4 | COMPLETED | Improving Driving in Young People With Autism Spectrum Disorders |
| NCT03757585 | PHASE4 | COMPLETED | Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD) |
| NCT04903353 | PHASE4 | COMPLETED | Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole |
| NCT05063656 | PHASE4 | COMPLETED | Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin |
| NCT05146245 | PHASE4 | UNKNOWN | Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT |
| NCT05916339 | PHASE4 | RECRUITING | AWARE: Management of ADHD in Autism Spectrum Disorder |
| NCT05954052 | PHASE4 | TERMINATED | A Study of Glutathione in Children With Autism Spectrum Disorder |
| NCT06853665 | PHASE4 | RECRUITING | The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine |
| NCT07054697 | PHASE4 | COMPLETED | Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder |
| NCT07161804 | PHASE4 | COMPLETED | Pilot RCT Using Homeopathic Medicines in ASD |
| NCT07439042 | PHASE4 | NOT_YET_RECRUITING | Buspirone for Anxiety in Autistic Youth |
| NCT01302964 | PHASE3 | COMPLETED | Mirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders |
| NCT01706523 | PHASE3 | TERMINATED | Open Label Extension Study of STX209 (Arbaclofen) in Autism Spectrum Disorders |
| NCT01825798 | PHASE3 | COMPLETED | Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD) |
| NCT01972074 | PHASE3 | COMPLETED | Behavioral and Neural Response to Memantine in Adolescents With Autism Spectrum Disorder |
| NCT02985749 | PHASE3 | COMPLETED | A Study of Oxytocin for the Treatment of Social Impairment in Individuals With High Functioning Autism Spectrum Disorder |
| NCT03197922 | PHASE3 | COMPLETED | Treatment of Encopresis in Children With Autism Spectrum Disorders |
| NCT03504917 | PHASE3 | TERMINATED | A Study of Balovaptan in Adults With Autism Spectrum Disorder With a 2-Year Open-Label Extension |
| NCT03553875 | PHASE3 | TERMINATED | Memantine for the Treatment of Social Deficits in Youth With Disorders of Impaired Social Interactions |
| NCT03640156 | PHASE3 | COMPLETED | Modulating Socially Adaptive Mirror System Functioning in Autism by Oxytocin |
| NCT03715153 | PHASE3 | TERMINATED | Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children Aged From 2 to Less Than 7 Years Old With Autism Spectrum Disorder. |
| NCT03715166 | PHASE3 | TERMINATED | Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children and Adolescents Aged From 7 to Less Than 18 Years Old With Autism Spectrum Disorder |
| NCT04233502 | PHASE3 | WITHDRAWN | Efficacy and Safety of Slenyto for Insomnia in Children With ASD |
| NCT04578756 | PHASE3 | COMPLETED | Open-Label, Flexible-dose Study to Evaluate the Long-Term Safety and Tolerability of Cariprazine in the Treatment of Pediatric Participants With Schizophrenia, Bipolar I Disorder, or Autism Spectrum Disorder |
| NCT04623398 | PHASE3 | COMPLETED | Effect of Lithium in Patients With Autism Spectrum Disorder and Phelan-McDermid Syndrome (SHANK3 Haploinsufficiency) |
| NCT04725383 | PHASE3 | TERMINATED | Amitriptyline for Repetitive Behaviors in Autism Spectrum Disorders |
| NCT05212493 | PHASE3 | COMPLETED | The Effects of Medical Cannabis in Children With Autistic Spectrum Disorder |
| NCT05361707 | PHASE3 | UNKNOWN | Evaluating the Effects of Tasimelteon in Individuals With Autism Spectrum Disorder (ASD) and Sleep Disturbances |
| NCT05439616 | PHASE3 | COMPLETED | Study of Cariprazine Oral Capsules or Solution to Assess Adverse Events and Change in Irritability Due to Autism Spectrum Disorder (ASD) in Participants Aged 5-17 Years With ASD |
| NCT06229210 | PHASE3 | RECRUITING | Safety and Tolerability Trial of Lumateperone in Pediatric Patients With Schizophrenia, Bipolar Disorder or Autism Spectrum Disorder |
Related Atlas pages
- Associated diseases: autism spectrum disorder, cleft lip/palate
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): cleft lip/palate