CHML

Summary

CHML (CHM like Rab escort protein, HGNC:1941) is a protein-coding gene on chromosome 1q43, encoding Rab proteins geranylgeranyltransferase component A 2 (P26374). Substrate-binding subunit (component A) of the Rab geranylgeranyltransferase (GGTase) complex.

The product of the CHML gene supports geranylgeranylation of most Rab proteins and may substitute for REP-1 in tissues other than retina. CHML is localized close to the gene for Usher syndrome type II.

Source: NCBI Gene 1122 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 143 total — 2 pathogenic
• Phenotypes (HPO): 1
• MANE Select transcript: NM_001381853

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1941
Approved symbol	CHML
Name	CHM like Rab escort protein
Location	1q43
Locus type	gene with protein product
Status	Approved
Aliases	REP-2
Ensembl gene	ENSG00000203668
Ensembl biotype	protein_coding
OMIM	118825
Entrez	1122

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000366553, ENST00000636025, ENST00000638018, ENST00000638121, ENST00000638160

RefSeq mRNA: 5 — MANE Select: NM_001381853 NM_001381853, NM_001381854, NM_001381855, NM_001381856, NM_001821

CCDS: CCDS31073, CCDS91183, CCDS91184

Canonical transcript exons

ENST00000366553 — 2 exons

Exon	Start	End
ENSE00001442024	241628851	241636073
ENSE00003904799	241639882	241640369

Expression profiles

Bgee: expression breadth ubiquitous, 251 present calls, max score 93.06.

FANTOM5 (CAGE): breadth broad, TPM avg 0.7211 / max 13.0130, expressed in 456 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
18300	12.8275	1760
18297	0.4918	272
18296	0.2293	104

Top tissues by expression

280 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	93.06	gold quality
cortical plate	UBERON:0005343	89.47	gold quality
male germ cell	CL:0000015	89.35	gold quality
ganglionic eminence	UBERON:0004023	87.27	gold quality
Brodmann (1909) area 23	UBERON:0013554	86.37	gold quality
postcentral gyrus	UBERON:0002581	85.10	gold quality
ventricular zone	UBERON:0003053	84.33	gold quality
visceral pleura	UBERON:0002401	83.85	gold quality
superior frontal gyrus	UBERON:0002661	83.27	gold quality
parietal lobe	UBERON:0001872	83.14	gold quality
placenta	UBERON:0001987	82.87	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.67	gold quality
primary visual cortex	UBERON:0002436	82.36	gold quality
adrenal tissue	UBERON:0018303	82.22	gold quality
trabecular bone tissue	UBERON:0002483	81.34	gold quality
endometrium	UBERON:0001295	80.85	gold quality
tibia	UBERON:0000979	80.77	gold quality
pleura	UBERON:0000977	80.52	gold quality
calcaneal tendon	UBERON:0003701	80.42	gold quality
germinal epithelium of ovary	UBERON:0001304	80.24	gold quality
parietal pleura	UBERON:0002400	80.16	gold quality
superficial temporal artery	UBERON:0001614	79.86	gold quality
monocyte	CL:0000576	79.68	gold quality
endothelial cell	CL:0000115	79.38	gold quality
occipital lobe	UBERON:0002021	79.28	gold quality
mononuclear cell	CL:0000842	78.99	gold quality
leukocyte	CL:0000738	78.60	gold quality
bone marrow	UBERON:0002371	78.45	gold quality
middle temporal gyrus	UBERON:0002771	78.36	gold quality
upper leg skin	UBERON:0004262	78.34	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.08
E-GEOD-98556	no	546.35

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): TP53

miRNA regulators (miRDB)

210 targeting CHML, 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-656-3P	100.00	72.15	2788
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-4282	99.99	75.36	6408
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-3692-3P	99.98	70.27	2139
HSA-MIR-433-3P	99.98	69.37	1203
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-146A-5P	99.96	68.93	988
HSA-MIR-146B-5P	99.96	69.13	977
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-559	99.95	72.28	3609
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488

Literature-anchored findings (GeneRIF, showing 4)

• Polymorphisms in the OPN3 and CHML genes are associated with asthma and atopic asthma. (PMID:18344558)
• CHML promotes migration, invasion and metastasis of hepatocellular carcinoma cells, in a Rab14-dependent manner. Mechanism study reveals that CHML facilitates constant recycling of Rab14 by escorting Rab14 to the membrane. (PMID:31175290)
• CHML targeted by miR-199a-3p promotes non-small cell lung cancer cell growth via binding to Rab5A. (PMID:34649053)
• CHML is an NRF2 target gene that regulates mTOR function. (PMID:35184380)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	chm	ENSDARG00000003845
mus_musculus	Chml	ENSMUSG00000078185
rattus_norvegicus	Chml	ENSRNOG00000067369
drosophila_melanogaster	Rep	FBGN0026378
caenorhabditis_elegans		WBGENE00022051

Paralogs (3): GDI2 (ENSG00000057608), CHM (ENSG00000188419), GDI1 (ENSG00000203879)

Protein

Protein identifiers

Rab proteins geranylgeranyltransferase component A 2 — P26374 (reviewed: P26374)

Alternative names: Choroideremia-like protein, Rab escort protein 2

All UniProt accessions (4): A0A1B0GUK6, A0A1B0GVA4, A0A1B0GVX9, P26374

UniProt curated annotations — full annotation on UniProt →

Function. Substrate-binding subunit (component A) of the Rab geranylgeranyltransferase (GGTase) complex. Binds unprenylated Rab proteins and presents the substrate peptide to the catalytic component B. The component A is thought to be regenerated by transferring its prenylated Rab back to the donor membrane. Less effective than CHM in supporting prenylation of Rab3 family.

Subunit / interactions. Monomer. Heterotrimer composed of RABGGTA, RABGGTB and CHML; within this trimer, RABGGTA and RABGGTB form the catalytic component B, while CHML (component A) mediates Rab protein binding. Interacts with RAB1A, RAB7A and RAB27A, but has much lower affinity for RAB1A, RAB7A and RAB27A than CHM. Interacts with the non-phosphorylated forms of RAB3A, RAB3B, RAB3C, RAB3D, RAB5B, RAB5C, RAB8A, RAB8B, RAB10, RAB12, RAB35, and RAB43.

Subcellular location. Cytoplasm. Cytosol.

Miscellaneous. Substitutes for REP-1 thereby preventing widespread tissue abnormalities in patients with choroideremia who lack REP-1.

Similarity. Belongs to the Rab GDI family.

RefSeq proteins (5): NP_001368782, NP_001368783, NP_001368784, NP_001368785, NP_001812 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001738	Rab_escort	Family
IPR018203	GDP_dissociation_inhibitor	Family
IPR036188	FAD/NAD-bd_sf	Homologous_superfamily
IPR054420	RAE1_2_domI_C	Domain

Pfam: PF00996, PF22603

UniProt features (6 total): region of interest 2, chain 1, compositionally biased region 1, modified residue 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P26374-F1	79.77	0.64

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): 649

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-8873719	RAB geranylgeranylation
R-HSA-8876198	RAB GEFs exchange GTP for GDP on RABs

MSigDB gene sets: 188 (showing top): RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_PROTEIN_TARGETING, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, GOMF_GTPASE_BINDING, PATIL_LIVER_CANCER, WEI_MYCN_TARGETS_WITH_E_BOX, BROWNE_HCMV_INFECTION_48HR_DN, GOBP_PROTEIN_TARGETING_TO_MEMBRANE, MODULE_205, BILD_E2F3_ONCOGENIC_SIGNATURE, BROWNE_HCMV_INFECTION_14HR_DN, WTGAAAT_UNKNOWN

GO Biological Process (6): intracellular protein transport (GO:0006886), small GTPase-mediated signal transduction (GO:0007264), vesicle-mediated transport (GO:0016192), protein geranylgeranylation (GO:0018344), signal transduction (GO:0007165), G protein-coupled receptor signaling pathway (GO:0007186)

GO Molecular Function (4): GDP-dissociation inhibitor activity (GO:0005092), GTPase activator activity (GO:0005096), small GTPase binding (GO:0031267), G protein-coupled receptor activity (GO:0004930)

GO Cellular Component (6): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829), Rab-protein geranylgeranyltransferase complex (GO:0005968), cytoplasm (GO:0005737), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Post-translational protein modification	1
Rab regulation of trafficking	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
cellular process	2
GTPase regulator activity	2
cytoplasm	2
intracellular protein localization	1
protein transport	1
intracellular transport	1
intracellular signaling cassette	1
transport	1
protein prenylation	1
cell communication	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
G protein-coupled receptor activity	1
signal transduction	1
GDP binding	1
GTPase activity	1
enzyme activator activity	1
GTPase binding	1
transmembrane signaling receptor activity	1
G protein-coupled receptor signaling pathway	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
transferase complex	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

686 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CHML	OPN3	Q9H1Y3	974
CHML	RAB27A	P51159	824
CHML	RABGGTB	P53611	738
CHML	RABGGTA	Q92696	723
CHML	EXPH5	Q8NEV8	648
CHML	SYTL2	Q9HCH5	645
CHML	MLPH	Q9BV36	642
CHML	UBXN8	O00124	602
CHML	MAP1LC3C	Q9BXW4	587
CHML	SEPTIN7	Q16181	547
CHML	REP15	Q6BDI9	541
CHML	RAB27B	O00194	528
CHML	RAB32	Q13637	506
CHML	RAB5A	P20339	505
CHML	RAB25	P57735	475

IntAct

106 interactions, top by confidence:

A	B	Type	Score
LMO1	ZBTB43	psi-mi:“MI:0914”(association)	0.830
RABGGTB	YKT6	psi-mi:“MI:0914”(association)	0.740
RAB11B	SH3BP5	psi-mi:“MI:0914”(association)	0.640
RAB31	CHM	psi-mi:“MI:0914”(association)	0.640
RAB32	CHM	psi-mi:“MI:0914”(association)	0.640
RAB11A	CHML	psi-mi:“MI:2364”(proximity)	0.610
RAB9A	CHM	psi-mi:“MI:2364”(proximity)	0.610
RAB9A	CHM	psi-mi:“MI:0914”(association)	0.610
RAB8A	WDR91	psi-mi:“MI:0914”(association)	0.600
RAB10	CHM	psi-mi:“MI:0914”(association)	0.530
RAB8B	BLTP3B	psi-mi:“MI:0914”(association)	0.530
RAB5C	GNAT3	psi-mi:“MI:0914”(association)	0.530
RAB17	GTPBP1	psi-mi:“MI:0914”(association)	0.530
RABGGTA	YKT6	psi-mi:“MI:0914”(association)	0.530
RAB11A	SH3BP5	psi-mi:“MI:0914”(association)	0.530
RAB5A	ATE1	psi-mi:“MI:0914”(association)	0.530
RAB7B	ATE1	psi-mi:“MI:0914”(association)	0.530
RAB30	UBB	psi-mi:“MI:0914”(association)	0.530
RAB3A	RAB3B	psi-mi:“MI:0914”(association)	0.530
RAB29	CHM	psi-mi:“MI:0914”(association)	0.530
RAB1A	CHM	psi-mi:“MI:0914”(association)	0.530

BioGRID (124): CHML (Affinity Capture-MS), CHML (Affinity Capture-MS), CHML (Affinity Capture-MS), CHML (Affinity Capture-MS), CHML (Affinity Capture-MS), CHML (Affinity Capture-MS), CHML (Affinity Capture-MS), PSMA1 (Co-fractionation), CHML (Affinity Capture-MS), CHML (Affinity Capture-MS), CHML (Affinity Capture-MS), CHML (Affinity Capture-MS), CHML (Affinity Capture-MS), CHML (Affinity Capture-MS), CHML (Affinity Capture-MS)

ESM2 similar proteins: A0A0R4IXF6, A0A1L8HU22, A0JMD0, A0JMU5, A2RSY6, A5D7S3, A5WW08, A6NNW6, A9LLI8, E9PUQ8, F1LW30, F4HS99, O75460, P0C218, P26374, P79457, Q12789, Q16760, Q1LWH4, Q2I6J1, Q2T9V5, Q3B7T1, Q3KR54, Q496Z9, Q4R6C7, Q5FWP4, Q5R5T0, Q5ZLG9, Q64398, Q6GQV7, Q6NVF4, Q6NZP1, Q6P2P2, Q6P5D8, Q6PJI9, Q6UXZ4, Q7Z2T5, Q7ZXF1, Q8C0M0, Q8C5W4

Diamond homologs: O93831, P24386, P26374, P37727, P50395, Q5RCE1, Q9QXG2, Q9QZD5, Q9V8W3, P32864, Q10305

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 80 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
RAB geranylgeranylation	38	99.6×	1e-70
TBC/RABGAPs	13	51.1×	1e-17
RAB GEFs exchange GTP for GDP on RABs	25	47.0×	2e-34
Retrograde transport at the Trans-Golgi-Network	6	20.0×	5e-05
Translocation of SLC2A4 (GLUT4) to the plasma membrane	6	14.0×	3e-04
COPII-mediated vesicle transport	5	12.4×	2e-03
Neutrophil degranulation	13	4.5×	3e-04

GO biological processes:

GO term	Partners	Fold	FDR
antigen processing and presentation	10	90.0×	1e-15
Rab protein signal transduction	7	89.0×	1e-10
regulated exocytosis	5	56.9×	9e-07
melanosome transport	5	49.1×	2e-06
positive regulation of exocytosis	6	46.3×	2e-07
autophagosome assembly	8	23.1×	1e-07
endocytic recycling	6	20.6×	1e-05
exocytosis	10	19.5×	9e-09

Disease & clinical

Clinical variants and AI predictions

ClinVar

143 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	127
Likely benign	12
Benign	1

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
3062677	GRCh37/hg19 1q43(chr1:239786185-242208644)x1	Pathogenic
831714	NC_000001.10:g.(?241661108)(242431558_?)del	Pathogenic

SpliceAI

435 predictions. Top by Δscore:

Variant	Effect	Δscore
1:241639942:T:A	donor_gain	1.0000
1:241639876:ACT:A	donor_loss	0.9900
1:241639877:CT:C	donor_loss	0.9900
1:241639878:TCACC:T	donor_loss	0.9900
1:241639879:CAC:C	donor_loss	0.9900
1:241639880:A:AC	donor_gain	0.9900
1:241639880:ACCG:A	donor_loss	0.9900
1:241639881:C:CC	donor_gain	0.9900
1:241633867:C:CT	donor_gain	0.9800
1:241633868:T:TT	donor_gain	0.9800
1:241639875:AACTC:A	donor_loss	0.9800
1:241633729:T:TA	donor_gain	0.9700
1:241633839:T:A	donor_gain	0.9600
1:241639450:C:CA	donor_gain	0.9500
1:241639874:CAACT:C	donor_loss	0.9500
1:241639936:AG:A	donor_gain	0.9500
1:241633709:A:C	donor_gain	0.9100
1:241635147:T:C	donor_gain	0.9100
1:241633904:A:AC	donor_gain	0.9000
1:241635334:A:C	donor_gain	0.9000
1:241636074:C:CC	acceptor_gain	0.9000
1:241639471:A:C	donor_gain	0.9000
1:241639937:G:C	donor_gain	0.9000
1:241633717:T:C	donor_gain	0.8900
1:241635281:A:AC	donor_gain	0.8800
1:241633712:A:AC	donor_gain	0.8600
1:241633713:C:CC	donor_gain	0.8600
1:241639020:T:TA	donor_gain	0.8500
1:241639165:A:C	donor_gain	0.8500
1:241636072:CT:C	acceptor_gain	0.8400

AlphaMissense

4339 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:241635663:A:G	L35P	0.995
1:241634915:A:C	F284L	0.994
1:241634915:A:T	F284L	0.994
1:241634917:A:G	F284L	0.994
1:241634885:C:A	K294N	0.993
1:241634885:C:G	K294N	0.993
1:241634398:C:G	A457P	0.991
1:241634391:A:G	L459P	0.990
1:241634116:C:G	A551P	0.989
1:241634119:A:G	W550R	0.988
1:241634119:A:T	W550R	0.988
1:241634887:T:C	K294E	0.988
1:241634595:C:G	R391T	0.987
1:241635620:A:C	S49R	0.987
1:241635620:A:T	S49R	0.987
1:241635622:T:G	S49R	0.987
1:241634600:G:C	F389L	0.985
1:241634600:G:T	F389L	0.985
1:241634602:A:G	F389L	0.985
1:241634919:A:T	V283D	0.985
1:241634597:A:C	C390W	0.984
1:241634886:T:G	K294T	0.984
1:241635666:A:T	V34D	0.984
1:241633990:C:G	A593P	0.983
1:241634877:A:G	L297P	0.983
1:241635080:A:C	F229L	0.983
1:241635080:A:T	F229L	0.983
1:241635082:A:G	F229L	0.983
1:241634247:A:G	L507P	0.981
1:241634509:C:G	A420P	0.981

dbSNP variants (sampled 300 via entrez): RS1000283356 (1:241636743 G>A), RS1000467306 (1:241630269 C>T), RS1000493510 (1:241632826 G>A), RS1000585332 (1:241630010 G>C), RS1000589016 (1:241640626 G>A,C), RS1001239538 (1:241635614 G>A), RS1001464125 (1:241628601 G>A), RS1001530576 (1:241638836 T>C), RS1001895354 (1:241639807 G>A,C), RS1002015655 (1:241641178 C>T), RS1002523589 (1:241637146 T>C), RS1002682868 (1:241631059 ATTAT>A), RS1003023604 (1:241639275 T>G), RS1003248360 (1:241632548 C>T), RS1003981352 (1:241632921 C>G,T)

Disease associations

OMIM: gene MIM:118825 | disease phenotypes: MIM:209850, MIM:615937, MIM:606812

GenCC curated gene-disease

Mondo (3): autism (MONDO:0005260), megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MONDO:0014407), fumaric aciduria (MONDO:0011730)

Orphanet (2): Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome (Orphanet:83473), Fumaric aciduria (Orphanet:24)

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPO	Term
HP:0000717	Autism

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST003518_79	Daytime sleep phenotypes	4.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007828	daytime rest measurement

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D001321	Autistic Disorder	F03.625.164.113.500
C538191	Fumaric aciduria (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

39 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, decreases methylation, decreases expression	3
Tretinoin	decreases expression	3
Valproic Acid	affects expression, decreases methylation, increases expression	3
Cyclosporine	decreases expression, increases expression	3
Estradiol	affects cotreatment, increases expression	2
Cadmium Chloride	decreases expression, increases expression	2
aristolochic acid I	decreases expression	1
triphenyl phosphate	affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	decreases expression	1
cobaltous chloride	decreases expression	1
avobenzone	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
torcetrapib	increases expression	1
jinfukang	decreases expression	1
Resveratrol	increases expression, affects cotreatment	1
Arsenic Trioxide	increases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Vorinostat	increases expression	1
Arsenic	affects expression	1
Benzo(a)pyrene	increases methylation	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Demecolcine	decreases expression	1
Ethyl Methanesulfonate	decreases expression	1
Formaldehyde	decreases expression	1
Methyl Methanesulfonate	decreases expression	1
Naled	affects expression	1
Plant Extracts	increases expression, affects cotreatment	1
Quercetin	decreases expression	1

Clinical trials (associated diseases)

300 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00211796	PHASE4	COMPLETED	Divalproex Sodium ER in Adult Autism
NCT00391261	PHASE4	COMPLETED	An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications.
NCT00409747	PHASE4	COMPLETED	Minocycline to Treat Childhood Regressive Autism
NCT00576732	PHASE4	COMPLETED	A Study of the Effectiveness and Safety of Two Doses of Risperidone in the Treatment of Children and Adolescents With Autistic Disorder
NCT00844753	PHASE4	COMPLETED	Atomoxetine, Placebo and Parent Management Training in Autism
NCT01028820	PHASE4	COMPLETED	FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders
NCT01098383	PHASE4	UNKNOWN	Treatment With Acetyl-Choline Esterase Inhibitors in Children With 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
NCT02069977	PHASE4	UNKNOWN	Study to Evaluate the Efficacy and Safety of Aripiprazole
NCT02096952	PHASE4	COMPLETED	Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD
NCT02199925	PHASE4	UNKNOWN	An Open-Label Study to Evaluate the Efficacy of High-Dose Gammaplex in Children on the Autism Spectrum
NCT02235467	PHASE4	COMPLETED	Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism
NCT02255565	PHASE4	COMPLETED	Dose Response Effects of Quillivant XR in Children With ADHD and Autism: A Pilot Study
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
NCT00036231	PHASE3	TERMINATED	Synthetic Human Secretin in Children With Autism and Gastrointestinal Dysfunction
NCT00036244	PHASE3	COMPLETED	Synthetic Human Secretin in Children With Autism
NCT00065884	PHASE3	UNKNOWN	Valproate Response in Aggressive Autistic Adolescents
NCT00065962	PHASE3	COMPLETED	Secretin for the Treatment of Autism
NCT00252603	PHASE3	COMPLETED	Galantamine Versus Placebo in Childhood Autism
NCT00346736	PHASE3	COMPLETED	Use of Acupuncture In Children With Autistic Spectrum Disorder
NCT00352248	PHASE3	COMPLETED	Randomized Controlled Trial of Acupuncture Versus Sham Acupuncture in Autistic Spectrum Disorder
NCT00352352	PHASE3	COMPLETED	Use of Acupuncture In Children With Autistic Spectrum Disorder
NCT00355329	PHASE3	COMPLETED	Randomized Control Trial of Using Tongue Acupuncture in Autistic Spectrum Disorder Using PET Scan for Clinical Correlation
NCT00498173	PHASE3	COMPLETED	Effectiveness of Atomoxetine in Treating ADHD Symptoms in Children and Adolescents With Autism
NCT00541346	PHASE3	COMPLETED	A Pilot Study of Daytrana TM in Children With Autism Co-Morbid for Attention Deficit Hyperactivity Disorder (ADHD) Symptoms