CARNMT1

Summary

CARNMT1 (carnosine N-methyltransferase 1, HGNC:23435) is a protein-coding gene on chromosome 9q21.13, encoding Carnosine N-methyltransferase (Q8N4J0). N-methyltransferase that catalyzes the formation of anserine (beta-alanyl-N(Pi)-methyl-L-histidine) from carnosine.

The protein encoded by this gene is a methyltransferase that converts carnosine to anserine, a dipeptide found abundantly in skeletal muscle. The encoded protein can methylate other dipeptides as well. Three transcript variants encoding two different isoforms have been found for this gene.

Source: NCBI Gene 138199 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 59 total — 1 likely-pathogenic
• MANE Select transcript: NM_152420

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23435
Approved symbol	CARNMT1
Name	carnosine N-methyltransferase 1
Location	9q21.13
Locus type	gene with protein product
Status	Approved
Aliases	FLJ25795
Ensembl gene	ENSG00000156017
Ensembl biotype	protein_coding
OMIM	616552
Entrez	138199

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 6 protein_coding

ENST00000376830, ENST00000376834, ENST00000451153, ENST00000858081, ENST00000928755, ENST00000956154

RefSeq mRNA: 2 — MANE Select: NM_152420 NM_001320497, NM_152420

CCDS: CCDS6649

Canonical transcript exons

ENST00000376834 — 8 exons

Exon	Start	End
ENSE00001089251	75016268	75016431
ENSE00001089254	74999730	74999870
ENSE00001158254	75017253	75017448
ENSE00001471819	75028012	75028293
ENSE00001668139	74984907	74985010
ENSE00001750164	74980790	74983868
ENSE00003629701	74998598	74998776
ENSE00003638885	74996447	74996560

Expression profiles

Bgee: expression breadth ubiquitous, 242 present calls, max score 91.97.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.2452 / max 374.3599, expressed in 1803 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
101024	8.9001	1746
101025	6.9735	1690
101026	0.3717	163

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
epithelial cell of pancreas	CL:0000083	91.97	silver quality
oviduct epithelium	UBERON:0004804	91.63	gold quality
jejunal mucosa	UBERON:0000399	91.43	gold quality
buccal mucosa cell	CL:0002336	91.37	gold quality
oocyte	CL:0000023	90.82	gold quality
esophagus squamous epithelium	UBERON:0006920	89.85	gold quality
secondary oocyte	CL:0000655	89.64	gold quality
adrenal tissue	UBERON:0018303	89.53	gold quality
kidney epithelium	UBERON:0004819	88.38	silver quality
gingival epithelium	UBERON:0001949	88.20	gold quality
gingiva	UBERON:0001828	87.88	gold quality
germinal epithelium of ovary	UBERON:0001304	87.74	gold quality
calcaneal tendon	UBERON:0003701	87.32	gold quality
oral cavity	UBERON:0000167	87.11	gold quality
ileal mucosa	UBERON:0000331	86.41	gold quality
jejunum	UBERON:0002115	86.33	gold quality
mucosa of sigmoid colon	UBERON:0004993	86.01	gold quality
pigmented layer of retina	UBERON:0001782	85.85	gold quality
colonic mucosa	UBERON:0000317	85.81	gold quality
mucosa of paranasal sinus	UBERON:0005030	85.77	gold quality
tonsil	UBERON:0002372	84.54	gold quality
palpebral conjunctiva	UBERON:0001812	84.34	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.09	gold quality
epithelium of nasopharynx	UBERON:0001951	83.28	gold quality
endometrium	UBERON:0001295	83.21	gold quality
duodenum	UBERON:0002114	82.76	gold quality
amniotic fluid	UBERON:0000173	82.67	gold quality
seminal vesicle	UBERON:0000998	82.65	gold quality
parietal pleura	UBERON:0002400	82.63	gold quality
endothelial cell	CL:0000115	82.52	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.26

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

149 targeting CARNMT1, 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-3646	100.00	73.56	5283
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-433-3P	99.98	69.37	1203
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502

Literature-anchored findings (GeneRIF, showing 1)

• This study solved the cofactor-bound binary, substrate- and product-bound ternary crystal structures of human CARNMT1. These structural studies revealed the substrate binding mode of carnosine, in which N1 position specificity is achieved by precise anchoring of the histidine imidazole ring in a recognition pocket such that N1 but not N3 is exposed and deprotonated for methylation. (PMID:29463897)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	carnmt1	ENSDARG00000102865
mus_musculus	Carnmt1	ENSMUSG00000024726
rattus_norvegicus	Carnmt1	ENSRNOG00000012872
drosophila_melanogaster	CG11596	FBGN0023522
caenorhabditis_elegans		WBGENE00013015

Protein

Protein identifiers

Carnosine N-methyltransferase — Q8N4J0 (reviewed: Q8N4J0)

All UniProt accessions (3): Q8N4J0, Q5T8U9, Q5T8V1

UniProt curated annotations — full annotation on UniProt →

Function. N-methyltransferase that catalyzes the formation of anserine (beta-alanyl-N(Pi)-methyl-L-histidine) from carnosine. Anserine, a methylated derivative of carnosine (beta-alanyl-L-histidine), is an abundant constituent of vertebrate skeletal muscles. Also methylates other L-histidine-containing di- and tripeptides such as Gly-Gly-His, Gly-His and homocarnosine (GABA-His).

Subunit / interactions. Homodimer. Each monomer accommodates one molecule of carnosine in its active pocket (residues 313-398), precisely anchoring the histidine imidazole ring such that only N1 is exposed and deprotonated for methylation.

Subcellular location. Cytoplasm. Cytosol. Nucleus.

Tissue specificity. Expressed at higher level in kidney. Expressed at lower level in brain and skeletal muscle.

Domain organisation. The Gly-Xaa-Gly-Xaa-Gly (GXGXG) motif binds the adenosyl part of S-adenosyl-L-methionine. The carnosine-binding region forms hydrophobic and hydrogen bonds with carnosine, defining a flipping orientation of the imidazole ring so that N1 is present next to S-adenosyl-L-methionine for methylation.

Similarity. Belongs to the carnosine N-methyltransferase family.

RefSeq proteins (2): NP_001307426, NP_689633* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR012901	CARME	Family
IPR029063	SAM-dependent_MTases_sf	Homologous_superfamily

Pfam: PF07942

Enzyme classification (BRENDA):

• EC 2.1.1.22 — carnosine N-methyltransferase (BRENDA: 8 organisms, 18 substrates, 0 inhibitors, 10 Km, 7 kcat entries)

Substrate kinetics (BRENDA)

3 substrates with measured Km, best-characterized 3. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
CARNOSINE	1.646–6.59	5
S-ADENOSYL-L-METHIONINE	0.025–0.09	4
ACTIN PEPTIDE H	1.5	1

Catalyzed reactions (Rhea), 1 shown:

• carnosine + S-adenosyl-L-methionine = anserine + S-adenosyl-L-homocysteine + H(+) (RHEA:14205)

UniProt features (55 total): helix 16, binding site 11, strand 11, mutagenesis site 10, turn 4, chain 1, region of interest 1, sequence conflict 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
5YF0	X-RAY DIFFRACTION	2.25
5YF1	X-RAY DIFFRACTION	2.4
5YF2	X-RAY DIFFRACTION	2.8

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N4J0-F1	90.52	0.81

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (11): 324; 347; 398; 164; 167; 208; 229; 295; 296; 312; 316

Mutagenesis-validated functional residues (10):

Position	Phenotype
313	impairs n-methyltransferase activity.
316	impairs n-methyltransferase activity.
343	impairs n-methyltransferase activity.
345	significantly reduces n-methyltransferase activity.
347	impairs binding to s-adenosyl-l-methionine. significantly reduces n-methyltransferase activity.
386	impairs n-methyltransferase activity.
386	reduces n-methyltransferase activity.
396	reduces n-methyltransferase activity.
396	impairs n-methyltransferase activity.
398	impairs n-methyltransferase activity.

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-70921	Histidine catabolism
R-HSA-1430728	Metabolism
R-HSA-71291	Metabolism of amino acids and derivatives

MSigDB gene sets: 142 (showing top): GOBP_ALPHA_AMINO_ACID_METABOLIC_PROCESS, MEF2_02, GTGCCTT_MIR506, YORDY_RECIPROCAL_REGULATION_BY_ETS1_AND_SP100_UP, WEI_MYCN_TARGETS_WITH_E_BOX, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, GOBP_AROMATIC_AMINO_ACID_METABOLIC_PROCESS, GOBP_AMIDE_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_CATABOLIC_PROCESS, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, GOBP_SMALL_MOLECULE_CATABOLIC_PROCESS, SENESE_HDAC1_TARGETS_UP, GOBP_AMINO_ACID_CATABOLIC_PROCESS, EGR1_01, GOBP_AROMATIC_AMINO_ACID_FAMILY_CATABOLIC_PROCESS

GO Biological Process (3): L-histidine catabolic process (GO:0006548), methylation (GO:0032259), carnosine metabolic process (GO:0035498)

GO Molecular Function (6): S-adenosylmethionine-dependent methyltransferase activity (GO:0008757), carnosine N-methyltransferase activity (GO:0030735), protein homodimerization activity (GO:0042803), protein binding (GO:0005515), methyltransferase activity (GO:0008168), transferase activity (GO:0016740)

GO Cellular Component (3): nucleus (GO:0005634), cytosol (GO:0005829), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Metabolism of amino acids and derivatives	1
Metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
aromatic amino acid catabolic process	1
imidazole-containing compound catabolic process	1
L-amino acid catabolic process	1
proteinogenic amino acid catabolic process	1
metabolic process	1
amino acid metabolic process	1
carboxylic acid metabolic process	1
methyltransferase activity	1
S-adenosylmethionine-dependent methyltransferase activity	1
identical protein binding	1
protein dimerization activity	1
binding	1
transferase activity, transferring one-carbon groups	1
catalytic activity	1
intracellular membrane-bounded organelle	1
cytoplasm	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

450 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CARNMT1	CARNS1	A5YM72	779
CARNMT1	SETD3	Q86TU7	586
CARNMT1	NAT16	Q8N8M0	542
CARNMT1	GARNL3	Q5VVW2	537
CARNMT1	TBRG1	Q3YBR2	444
CARNMT1	CNDP1	Q96KN2	442
CARNMT1	ZNHIT3	Q15649	430
CARNMT1	GRAMD1B	Q3KR37	425
CARNMT1	TPP2	P29144	423
CARNMT1	EI24	O14681	405
CARNMT1	TIGD3	Q6B0B8	397
CARNMT1	FRMD8	Q9BZ67	390
CARNMT1	CNDP2	Q96KP4	386
CARNMT1	TRAPPC10	P48553	367
CARNMT1	ADPRH	P54922	365

IntAct

64 interactions, top by confidence:

A	B	Type	Score
HDAC1	CDK2AP1	psi-mi:“MI:0914”(association)	0.840
U2AF1	CARNMT1	psi-mi:“MI:0915”(physical association)	0.740
U2AF1	U2AF2	psi-mi:“MI:0914”(association)	0.670
CARNMT1	NUP42	psi-mi:“MI:0914”(association)	0.640
CHCHD10	CLPX	psi-mi:“MI:0914”(association)	0.640
IKZF5	CCNB1	psi-mi:“MI:0914”(association)	0.640
GNG5	GNB5	psi-mi:“MI:0914”(association)	0.620
SOAT1	CARNMT1	psi-mi:“MI:0915”(physical association)	0.590
ODAPH	TCAF2	psi-mi:“MI:0914”(association)	0.530
CIMAP1C	STAMBP	psi-mi:“MI:0914”(association)	0.530
PLEKHG6	CST4	psi-mi:“MI:0914”(association)	0.530
RNF113A	CSNK2A2	psi-mi:“MI:0914”(association)	0.530
PNMA5	CARNMT1	psi-mi:“MI:0914”(association)	0.530
ZFC3H1	HNRNPCL1	psi-mi:“MI:0914”(association)	0.530
DTL	DNAJA2	psi-mi:“MI:0914”(association)	0.530
NEDD9	RHEB	psi-mi:“MI:0914”(association)	0.530
GNG5	GNAS	psi-mi:“MI:0914”(association)	0.530
KSR1	FBLL1	psi-mi:“MI:0914”(association)	0.350
KSR1	DDX39A	psi-mi:“MI:0914”(association)	0.350
KSR1	FAM168B	psi-mi:“MI:0914”(association)	0.350
KSR1		psi-mi:“MI:0914”(association)	0.350

BioGRID (124): C9orf41 (Affinity Capture-MS), C9orf41 (Affinity Capture-MS), DTL (Affinity Capture-MS), MAP7 (Affinity Capture-MS), MKRN2 (Affinity Capture-MS), ZC3H18 (Affinity Capture-MS), TAB1 (Affinity Capture-MS), BRIP1 (Affinity Capture-MS), CDK5RAP1 (Affinity Capture-MS), RNF113A (Affinity Capture-MS), CUL4A (Affinity Capture-MS), LENG9 (Affinity Capture-MS), NUPL2 (Affinity Capture-MS), TAB2 (Affinity Capture-MS), CNTLN (Affinity Capture-MS)

ESM2 similar proteins: A0A0G2QC33, A0FKG7, A6H7H7, F1N9S8, O95453, P0C0T1, P42694, P50747, P69341, Q0IIH8, Q0VGM9, Q13572, Q28559, Q4R528, Q5BJZ6, Q5F480, Q5R699, Q5RC51, Q5ZIA0, Q5ZIW7, Q640G7, Q6DDJ3, Q6DFV5, Q6DG88, Q6DJB3, Q6GR37, Q6NYU2, Q6PZ02, Q6PZ03, Q6PZ05, Q7T0P6, Q80UY1, Q80YV4, Q811C2, Q8BGE6, Q8BYN3, Q8C9S8, Q8N4J0, Q8VDG3, Q8WYN0

Diamond homologs: F1N9S8, P53934, Q54ST2, Q5BJZ6, Q80UY1, Q8N4J0, Q9I7X6, Q9Y7J3

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 67 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
Transport of Mature mRNA derived from an Intron-Containing Transcript	5	18.1×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	48
Likely benign	1
Benign	1

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
996578	NM_152420.3(CARNMT1):c.230G>A (p.Gly77Asp)	Likely pathogenic

SpliceAI

1596 predictions. Top by Δscore:

Variant	Effect	Δscore
9:74984901:TCTTA:T	donor_loss	1.0000
9:74984902:CTTAC:C	donor_loss	1.0000
9:74984903:TTACC:T	donor_loss	1.0000
9:74984904:TACCT:T	donor_loss	1.0000
9:74984905:A:C	donor_loss	1.0000
9:74984906:CCTC:C	donor_loss	1.0000
9:74996440:AACTT:A	donor_loss	1.0000
9:74996441:ACTTA:A	donor_loss	1.0000
9:74996442:CTTA:C	donor_loss	1.0000
9:74996443:TTAC:T	donor_loss	1.0000
9:74996444:T:TG	donor_loss	1.0000
9:74996445:ACCTA:A	donor_loss	1.0000
9:74998596:A:AC	donor_gain	1.0000
9:74998596:ACTG:A	donor_gain	1.0000
9:74998597:C:CT	donor_gain	1.0000
9:74998597:CT:C	donor_gain	1.0000
9:74998597:CTG:C	donor_gain	1.0000
9:74998597:CTGC:C	donor_gain	1.0000
9:74998597:CTGCA:C	donor_gain	1.0000
9:74998741:C:CT	acceptor_gain	1.0000
9:74998741:C:T	acceptor_gain	1.0000
9:74998774:CAT:C	acceptor_gain	1.0000
9:74998777:C:CC	acceptor_gain	1.0000
9:75016267:CCAT:C	donor_gain	1.0000
9:75016326:C:A	donor_gain	1.0000
9:75016338:T:A	donor_gain	1.0000
9:75016429:CCC:C	acceptor_gain	1.0000
9:75016430:CCC:C	acceptor_gain	1.0000
9:75017241:A:AC	donor_gain	1.0000
9:75017242:C:CC	donor_gain	1.0000

AlphaMissense

2712 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:74984991:A:C	F348L	1.000
9:74984991:A:T	F348L	1.000
9:74984993:A:G	F348L	1.000
9:74984994:G:C	H347Q	1.000
9:74984994:G:T	H347Q	1.000
9:74984996:G:C	H347D	1.000
9:74996459:A:G	W338R	1.000
9:74996459:A:T	W338R	1.000
9:74996518:G:T	A318D	1.000
9:74996523:G:C	D316E	1.000
9:74996523:G:T	D316E	1.000
9:74996524:T:A	D316V	1.000
9:74996524:T:C	D316G	1.000
9:74996524:T:G	D316A	1.000
9:74996532:G:C	F313L	1.000
9:74996532:G:T	F313L	1.000
9:74996534:A:G	F313L	1.000
9:74999757:A:G	L235P	1.000
9:74999768:A:C	S231R	1.000
9:74999768:A:T	S231R	1.000
9:74999770:T:G	S231R	1.000
9:74999775:T:A	E229V	1.000
9:74999823:C:A	R213I	1.000
9:74999823:C:G	R213T	1.000
9:74999826:C:T	G212E	1.000
9:74999832:C:T	G210E	1.000
9:74999838:C:T	G208D	1.000
9:74999847:A:G	L205P	1.000
9:75016353:A:G	W169R	1.000
9:75016353:A:T	W169R	1.000

dbSNP variants (sampled 300 via entrez): RS1000179980 (9:75022273 G>C), RS1000238880 (9:75020392 C>T), RS1000257714 (9:75022523 C>T), RS1000341911 (9:74984577 G>C), RS1000396034 (9:74985116 T>A,C,G), RS1000499729 (9:75021985 T>A,C), RS1000550208 (9:75023724 T>A,G), RS1000554155 (9:75000957 C>T), RS1000574663 (9:75021734 C>T), RS1000582996 (9:75024009 A>G), RS1000714566 (9:75028209 G>A,C,T), RS1000736719 (9:74987177 T>C), RS1000771302 (9:75026600 T>A,C), RS1000783503 (9:75029827 A>G), RS1000820738 (9:75011548 A>G)

Disease associations

OMIM: gene MIM:616552 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): intellectual disability (MONDO:0001071)

Orphanet (1): NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST005124_2	Urinary magnesium-to-creatinine ratio	4.000000e-13
GCST006923_14	Loneliness	5.000000e-09
GCST006924_6	Loneliness (MTAG)	2.000000e-09

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0008449	magnesium:creatinine ratio measurement
EFO:0007865	loneliness measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539

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
Air Pollutants	increases abundance, decreases expression, affects expression	2
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
glycidyl methacrylate	decreases expression	1
sodium arsenite	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
abrine	decreases expression	1
Acetaminophen	decreases expression	1
Atrazine	increases expression	1
Doxorubicin	decreases expression	1
Estradiol	increases expression	1
Ethyl Methanesulfonate	decreases expression	1
Formaldehyde	decreases expression	1
Methyl Methanesulfonate	decreases expression	1
Ozone	affects expression, increases abundance	1
Quercetin	decreases expression	1
Smoke	decreases expression, increases abundance	1
Tobacco Smoke Pollution	increases expression	1
Urethane	decreases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Oxyquinoline	decreases expression	1
Aflatoxin B1	decreases methylation	1
Cadmium Chloride	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT02270736	PHASE3	COMPLETED	Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability
NCT02304302	PHASE2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT03862950	PHASE2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226	PHASE2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856	PHASE2	COMPLETED	Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT05273320	PHASE1	COMPLETED	Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361	PHASE1	ENROLLING_BY_INVITATION	Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764	PHASE1	COMPLETED	Use of MRI and cTBS for Catatonia in Autism
NCT06586827	PHASE1	COMPLETED	Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940	PHASE1	NOT_YET_RECRUITING	Escalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT03479476	PHASE2/PHASE3	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome
NCT02616796	PHASE1/PHASE2	COMPLETED	Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome
NCT06860672	EARLY_PHASE1	RECRUITING	Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation
NCT00597948	Not specified	COMPLETED	Healthy Lifestyles for People With Intellectual Disabilities
NCT01087320	Not specified	RECRUITING	Genome Medical Sequencing for Gene Discovery
NCT01652963	Not specified	UNKNOWN	Picture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills
NCT01695395	Not specified	COMPLETED	Mental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder
NCT01867554	Not specified	COMPLETED	Research and Characterization of New Genes Involved in Intellectual Disability
NCT01915381	Not specified	COMPLETED	Improving Adherence Healthy Lifestyle With a Smartphone Application Based on Adults With Intellectual Disabilities
NCT01988623	Not specified	COMPLETED	Pivotal Response Treatment for Individuals With Intellectual Disabilities
NCT02099773	Not specified	COMPLETED	Support Staff-client Interactions With Augmentative and Alternative Communication
NCT02136849	Not specified	COMPLETED	Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic
NCT02225041	Not specified	COMPLETED	Sedation Strategy and Cognitive Outcome After Critical Illness in Early Childhood
NCT02414438	Not specified	COMPLETED	Establishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study
NCT02451761	Not specified	COMPLETED	Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability
NCT02461420	Not specified	ACTIVE_NOT_RECRUITING	Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
NCT02461459	Not specified	ACTIVE_NOT_RECRUITING	Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)
NCT02486081	Not specified	COMPLETED	Development and Application-Smart Football for Movement Evaluation and Training in the Special Education Population
NCT02504502	Not specified	COMPLETED	Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients
NCT02513277	Not specified	COMPLETED	Diabetes Screening & Prevention for People With Learning (Intellectual) Disabilities:STOP Diabetes Study
NCT02561754	Not specified	COMPLETED	Weight Management for Adolescents With IDD
NCT02591446	Not specified	COMPLETED	Transcranial Magnetic Stimulation Studies in Autism Spectrum Disorders
NCT02714868	Not specified	COMPLETED	Evaluation of Project TEAM (Teens Making Environmental and Activity Modifications)
NCT02721394	Not specified	UNKNOWN	FCT With Young Children With ID in the UK: A Feasibility Project V.1
NCT02746614	Not specified	COMPLETED	Psychomotor Therapy Effects in Adaptive Behavior and Motor Proficiency in Intellectual Disability
NCT02836405	Not specified	COMPLETED	TMS for the Investigation of Brain Plasticity in Autism Spectrum Disorders