METTL23

Summary

METTL23 (methyltransferase 23, arginine, HGNC:26988) is a protein-coding gene on chromosome 17q25.2, encoding Histone-arginine methyltransferase METTL23 (Q86XA0). Histone methyltransferase that dimethylates histone H3 at ‘Arg-17’, forming asymmetric dimethylarginine (H3R17me2a), leading to activate transcription via chromatin remodeling.

The protein encoded by this gene functions as a transcription factor regulator in the transcriptional pathway for human cognition. It is a partner of the alpha subunit of the GA-binding protein transcription factor. Mutations in this gene cause mild autosomal recessive intellectual disability. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 124512 — RefSeq curated summary.

At a glance

• Gene–disease (curated): intellectual disability (Definitive, ClinGen) — +2 more curated relationships
• Clinical variants (ClinVar): 82 total — 9 pathogenic, 7 likely-pathogenic
• Phenotypes (HPO): 16
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• MANE Select transcript: NM_001080510

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26988
Approved symbol	METTL23
Name	methyltransferase 23, arginine
Location	17q25.2
Locus type	gene with protein product
Status	Approved
Aliases	LOC124512
Ensembl gene	ENSG00000181038
Ensembl biotype	protein_coding
OMIM	615262
Entrez	124512

Gene structure

Transcript identifiers

Ensembl transcripts: 25 — 24 protein_coding, 1 retained_intron

ENST00000341249, ENST00000586200, ENST00000586738, ENST00000586752, ENST00000588302, ENST00000588563, ENST00000588783, ENST00000588822, ENST00000588964, ENST00000589581, ENST00000589977, ENST00000590964, ENST00000591571, ENST00000592849, ENST00000615984, ENST00000905510, ENST00000905511, ENST00000905512, ENST00000905513, ENST00000905514, ENST00000905515, ENST00000935921, ENST00000969534, ENST00000969535, ENST00000969536

RefSeq mRNA: 16 — MANE Select: NM_001080510 NM_001080510, NM_001206983, NM_001206984, NM_001206985, NM_001206986, NM_001206987, NM_001302703, NM_001302704, NM_001302705, NM_001378348, NM_001378349, NM_001378350, NM_001378351, NM_001378352, NM_001378353, NM_001378354

CCDS: CCDS45787, CCDS59298

Canonical transcript exons

ENST00000341249 — 5 exons

Exon	Start	End
ENSE00001332682	76729690	76729794
ENSE00001554255	76726839	76727178
ENSE00003610819	76733293	76733377
ENSE00003624765	76733521	76733880
ENSE00003630908	76732978	76733215

Expression profiles

Bgee: expression breadth ubiquitous, 256 present calls, max score 97.53.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 36.6255 / max 254.0397, expressed in 1819 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
162892	32.5045	1817
162893	2.0985	1297
162890	0.8004	460
162894	0.5777	262
162891	0.4827	168
162896	0.0980	29
162895	0.0638	13

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
kidney epithelium	UBERON:0004819	97.53	gold quality
epithelial cell of pancreas	CL:0000083	96.86	gold quality
left ventricle myocardium	UBERON:0006566	96.55	gold quality
adult organism	UBERON:0007023	96.37	gold quality
thymus	UBERON:0002370	95.96	gold quality
trachea	UBERON:0003126	95.76	gold quality
ileal mucosa	UBERON:0000331	95.67	gold quality
upper arm skin	UBERON:0004263	95.33	gold quality
cardia of stomach	UBERON:0001162	95.24	gold quality
oviduct epithelium	UBERON:0004804	95.17	gold quality
parotid gland	UBERON:0001831	95.16	gold quality
pylorus	UBERON:0001166	94.99	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	94.95	gold quality
tibialis anterior	UBERON:0001385	94.92	gold quality
superior surface of tongue	UBERON:0007371	94.92	gold quality
renal medulla	UBERON:0000362	94.87	gold quality
cardiac muscle of right atrium	UBERON:0003379	94.81	gold quality
right testis	UBERON:0004534	94.71	gold quality
saphenous vein	UBERON:0007318	94.71	gold quality
palpebral conjunctiva	UBERON:0001812	94.69	gold quality
left testis	UBERON:0004533	94.67	gold quality
granulocyte	CL:0000094	94.65	gold quality
sperm	CL:0000019	94.58	gold quality
epithelium of nasopharynx	UBERON:0001951	94.56	gold quality
pericardium	UBERON:0002407	94.46	gold quality
testis	UBERON:0000473	94.29	gold quality
lymph node	UBERON:0000029	94.27	gold quality
body of pancreas	UBERON:0001150	94.24	gold quality
deltoid	UBERON:0001476	94.16	gold quality
spleen	UBERON:0002106	94.04	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.10
E-ENAD-17	no	149.95

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

18 targeting METTL23, 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-4775	99.98	75.00	6394
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-3913-3P	99.74	66.53	938
HSA-MIR-4470	99.66	69.35	1767
HSA-MIR-4527	99.66	67.43	714
HSA-MIR-6503-5P	99.62	66.96	597
HSA-MIR-5007-3P	99.51	68.14	1242
HSA-MIR-513C-5P	99.50	68.42	1730
HSA-MIR-514B-5P	99.50	68.19	1766
HSA-MIR-2054	99.20	68.89	1699
HSA-MIR-767-3P	98.61	67.69	1192
HSA-MIR-499B-5P	98.35	68.39	988
HSA-MIR-8078	98.32	65.73	361
HSA-MIR-6847-3P	96.50	67.30	582
HSA-MIR-6082	96.40	70.86	216
HSA-MIR-549A-5P	96.35	68.08	587
HSA-MIR-6828-3P	96.06	67.61	1155

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 5)

• METTL23, a transcriptional partner of GABPA, is essential for human cognition (PMID:24501276)
• METTL23 mutations cause mild nonsyndromic autosomal recessive intellectual disability in two unrelated families, one from Austria, the other from Pakistan. (PMID:24626631)
• Further delineation of METTL23-associated intellectual disability. (PMID:32067349)
• Exome sequencing revealed a novel homozygous METTL23 gene mutation leading to familial mild intellectual disability with dysmorphic features. (PMID:32439618)
• Two Cases of Recessive Intellectual Disability Caused by NDST1 and METTL23 Variants. (PMID:32878022)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
		ENSDARG00000098719
danio_rerio	mettl23	ENSDARG00000099516
mus_musculus	Mettl23	ENSMUSG00000090266
rattus_norvegicus	Mettl23	ENSRNOG00000000249
drosophila_melanogaster	CG5013	FBGN0038396

Paralogs (5): VCPKMT (ENSG00000100483), EEF1AKMT3 (ENSG00000123427), METTL21C (ENSG00000139780), METTL21A (ENSG00000144401), METTL21EP (ENSG00000250878)

Protein

Protein identifiers

Histone-arginine methyltransferase METTL23 — Q86XA0 (reviewed: Q86XA0)

Alternative names: Methyltransferase-like protein 23

All UniProt accessions (9): Q86XA0, K7EJ00, K7EL83, K7EMR3, K7ENU9, K7EPR8, K7EPT5, K7ERS2, K7ESG7

UniProt curated annotations — full annotation on UniProt →

Function. Histone methyltransferase that dimethylates histone H3 at ‘Arg-17’, forming asymmetric dimethylarginine (H3R17me2a), leading to activate transcription via chromatin remodeling. Maternal factor involved in epigenetic chromatin reprogramming of the paternal genome in the zygote: mediates H3R17me2a, promoting histone H3.3 incorporation in the male pronucleus, leading to TET3 recruitment and subsequent DNA demethylation.

Subunit / interactions. Interacts with HSPA5, HSP90B1, TUBULIN, UGGT1 and UGGT2. Interacts with TET3. Interacts with STPG4.

Subcellular location. Nucleus. Cytoplasm.

Disease relevance. Intellectual developmental disorder, autosomal recessive 44 (MRT44) [MIM:615942] A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT44 manifestations include mild to severe cognitive impairment, delayed psychomotor development, seizures in some patients, and dysmorphic features. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the methyltransferase superfamily. METTL23 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q86XA0-1	1	yes
Q86XA0-2	2

RefSeq proteins (16): NP_001073979, NP_001193912, NP_001193913, NP_001193914, NP_001193915, NP_001193916, NP_001289632, NP_001289633, NP_001289634, NP_001365277, NP_001365278, NP_001365279, NP_001365280, NP_001365281, NP_001365282, NP_001365283 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR019410	Methyltransf_16	Family
IPR029063	SAM-dependent_MTases_sf	Homologous_superfamily

Pfam: PF10294

Catalyzed reactions (Rhea), 1 shown:

• L-arginyl-[protein] + 2 S-adenosyl-L-methionine = N(omega),N(omega)-dimethyl-L-arginyl-[protein] + 2 S-adenosyl-L-homocysteine + 2 H(+) (RHEA:48096)

UniProt features (6 total): sequence variant 3, chain 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86XA0-F1	93.81	0.84

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-9821002	Chromatin modifications during the maternal to zygotic transition (MZT)
R-HSA-9821993	Replacement of protamines by nucleosomes in the male pronucleus
R-HSA-1266738	Developmental Biology
R-HSA-9816359	Maternal to zygotic transition (MZT)

MSigDB gene sets: 117 (showing top): GOBP_COGNITION, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, GOBP_CHROMATIN_REMODELING, GOBP_METHYLATION, GOBP_EPIGENETIC_REGULATION_OF_GENE_EXPRESSION, GOCC_PRONUCLEUS, GOMF_HEAT_SHOCK_PROTEIN_BINDING, GOMF_N_METHYLTRANSFERASE_ACTIVITY, GOMF_PROTEIN_METHYLTRANSFERASE_ACTIVITY, GOMF_S_ADENOSYLMETHIONINE_DEPENDENT_METHYLTRANSFERASE_ACTIVITY, GOMF_TRANSCRIPTION_FACTOR_BINDING, GOMF_TRANSFERASE_ACTIVITY_TRANSFERRING_ONE_CARBON_GROUPS, GOMF_HISTONE_METHYLTRANSFERASE_ACTIVITY, MARTENS_TRETINOIN_RESPONSE_DN, GOBP_POSITIVE_REGULATION_OF_TRANSCRIPTION_BY_RNA_POLYMERASE_II

GO Biological Process (8): methylation (GO:0032259), epigenetic regulation of gene expression (GO:0040029), epigenetic programming in the zygotic pronuclei (GO:0044725), epigenetic programing of male pronucleus (GO:0044727), positive regulation of transcription by RNA polymerase II (GO:0045944), cognition (GO:0050890), chromatin organization (GO:0006325), regulation of gene expression (GO:0010468)

GO Molecular Function (7): heat shock protein binding (GO:0031072), protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242), histone H3R17 methyltransferase activity (GO:0035642), DNA-binding transcription factor binding (GO:0140297), protein binding (GO:0005515), methyltransferase activity (GO:0008168), transferase activity (GO:0016740)

GO Cellular Component (5): female pronucleus (GO:0001939), male pronucleus (GO:0001940), nucleus (GO:0005634), cytoplasm (GO:0005737), protein-containing complex (GO:0032991)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Maternal to zygotic transition (MZT)	2
Developmental Biology	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein-arginine N-methyltransferase activity	2
pronucleus	2
metabolic process	1
chromatin remodeling	1
regulation of gene expression	1
epigenetic programming of gene expression	1
epigenetic programming in the zygotic pronuclei	1
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
positive regulation of DNA-templated transcription	1
nervous system process	1
cellular component organization	1
gene expression	1
regulation of macromolecule biosynthetic process	1
protein binding	1
histone H3 methyltransferase activity	1
transcription factor binding	1
binding	1
transferase activity, transferring one-carbon groups	1
catalytic activity	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cellular anatomical structure	1
cellular_component	1

Protein interactions and networks

STRING

688 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
METTL23	GABPA	Q06546	788
METTL23	METTL22	Q9BUU2	702
METTL23	METTL18	O95568	628
METTL23	KIN	O60870	627
METTL23	ETFBKMT	Q8IXQ9	619
METTL23	EEF2KMT	Q96G04	580
METTL23	EEF1AKMT1	Q8WVE0	563
METTL23	EEF1AKMT2	Q5JPI9	546
METTL23	MFSD11	O43934	544
METTL23	JMJD6	Q6NYC1	507
METTL23	PRPSAP1	Q14558	505
METTL23	MXRA7	P84157	469
METTL23	TET3	O43151	451
METTL23	ATPSCKMT	Q6P4H8	434
METTL23	ANTKMT	Q9BQD7	434

IntAct

4 interactions, top by confidence:

A	B	Type	Score
BCL2L1	METTL23	psi-mi:“MI:0915”(physical association)	0.370
TK1	METTL23	psi-mi:“MI:0915”(physical association)	0.370
BCAS2	EPB41L2	psi-mi:“MI:0914”(association)	0.350

BioGRID (30): METTL23 (Positive Genetic), METTL23 (Affinity Capture-MS), METTL23 (Two-hybrid), METTL23 (Two-hybrid), BAG6 (Affinity Capture-MS), CASP14 (Affinity Capture-MS), CCT3 (Affinity Capture-MS), CSTA (Affinity Capture-MS), DNAJA1 (Affinity Capture-MS), DNAJA2 (Affinity Capture-MS), DNAJB11 (Affinity Capture-MS), GANAB (Affinity Capture-MS), HSP90B1 (Affinity Capture-MS), HSPA5 (Affinity Capture-MS), CCAR2 (Affinity Capture-MS)

ESM2 similar proteins: A2AA28, A2RRH5, A4FV42, A6NDL7, A7MCT6, B0K012, B2RYG8, D3YWP0, D3ZRW8, E1B8U2, J3S6Y1, P21964, P50747, Q0V8R7, Q1JP61, Q2TBI8, Q3SZD4, Q3U2J5, Q4VBE8, Q58DC7, Q5E9Y6, Q5RJL2, Q5VZV1, Q6DJF8, Q6GQ33, Q6P9U1, Q7Z624, Q80WC9, Q86XA0, Q8BNV1, Q8C436, Q8CDZ2, Q8IZ69, Q8N371, Q8R1C6, Q8WU66, Q920N2, Q96AZ1, Q96CB9, Q96RR1

Diamond homologs: A2AA28, A4FV42, A4FV98, A4IGU3, D3YWP0, O14118, Q28IN4, Q5BLD8, Q5RE14, Q5RJL2, Q6DJF8, Q86XA0, Q8CDZ2, Q8WXB1, Q96AZ1, Q9CQL0, A6NDL7, A6QP81, A7IQW5, P0CU27, P53970, Q2KIJ2, Q58DC7, Q5VZV1, Q8BLU2, Q8C436, Q8R1C6, Q9BUU2, Q9H867, F4JNX3, O95568, P40389, P47163, Q4KM84, Q55DL2, Q9CZ09, Q7S634, Q4I2X5, A4XKA6, B5YDR3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	9
Likely pathogenic	7
Uncertain significance	43
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (16)

Variant ID	HGVS	Classification
1071733	NM_001080510.5(METTL23):c.149_150dup (p.Asp51fs)	Pathogenic
144024	NM_001080510.5(METTL23):c.282_286del (p.Gln94fs)	Pathogenic
144025	NM_001080510.5(METTL23):c.397C>T (p.Gln133Ter)	Pathogenic
1805314	NM_001080510.5(METTL23):c.322+2dup	Pathogenic
2582828	NM_001080510.5(METTL23):c.322+1del	Pathogenic
384291	NM_001080510.5(METTL23):c.407+1G>C	Pathogenic
520640	NM_001080510.5(METTL23):c.178del (p.Glu60fs)	Pathogenic
520871	NM_001080510.5(METTL23):c.150dup (p.Asp51fs)	Pathogenic
812707	NM_001080510.5(METTL23):c.178dup (p.Glu60fs)	Pathogenic
1184977	NC_000017.11:g.76732979_76732983del	Likely pathogenic
1299777	NM_001080510.5(METTL23):c.238del (p.Thr80fs)	Likely pathogenic
1324716	NM_001080510.5(METTL23):c.126del (p.Lys42fs)	Likely pathogenic
1805419	NM_001080510.5(METTL23):c.409del (p.Ala137fs)	Likely pathogenic
3024257	NM_001080510.5(METTL23):c.204_207del (p.Met68fs)	Likely pathogenic
3340973	NM_001080510.5(METTL23):c.285TAT[1] (p.Ile97del)	Likely pathogenic
373407	NM_001080510.5(METTL23):c.536_545dup (p.Ile183fs)	Likely pathogenic

SpliceAI

1013 predictions. Top by Δscore:

Variant	Effect	Δscore
17:76733519:A:G	acceptor_gain	1.0000
17:76733634:G:GT	donor_gain	1.0000
17:76726341:GCTCA:G	donor_loss	0.9900
17:76726342:CTCA:C	donor_loss	0.9900
17:76726343:TCA:T	donor_loss	0.9900
17:76726344:C:CG	donor_loss	0.9900
17:76726345:A:AC	donor_gain	0.9900
17:76726345:ACCG:A	donor_gain	0.9900
17:76726346:C:CC	donor_gain	0.9900
17:76726346:CCGC:C	donor_gain	0.9900
17:76726367:G:C	donor_gain	0.9900
17:76726876:GCGT:G	donor_gain	0.9900
17:76727358:G:GG	donor_gain	0.9900
17:76733212:GAAG:G	donor_gain	0.9900
17:76733214:AGGT:A	donor_loss	0.9900
17:76733215:GGTAA:G	donor_loss	0.9900
17:76733216:GTAA:G	donor_loss	0.9900
17:76733217:T:A	donor_loss	0.9900
17:76733520:G:GG	acceptor_gain	0.9900
17:76733795:TC:T	donor_gain	0.9900
17:76726346:CCG:C	donor_gain	0.9800
17:76726878:GT:G	donor_gain	0.9800
17:76726880:G:GG	donor_gain	0.9800
17:76729828:GT:G	donor_gain	0.9800
17:76729829:TT:T	donor_gain	0.9800
17:76733676:A:T	donor_gain	0.9800
17:76727176:CAG:C	donor_loss	0.9700
17:76727177:AGGTG:A	donor_loss	0.9700
17:76727178:GGTG:G	donor_loss	0.9700
17:76727179:G:C	donor_loss	0.9700

AlphaMissense

1242 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:76732993:A:C	S34R	0.996
17:76732995:C:A	S34R	0.996
17:76732995:C:G	S34R	0.996
17:76729720:T:A	W4R	0.994
17:76729720:T:C	W4R	0.994
17:76733195:A:T	D101V	0.993
17:76729728:T:G	C6W	0.992
17:76733012:C:A	A40D	0.991
17:76733374:G:T	R135M	0.991
17:76733134:T:A	W81R	0.990
17:76733134:T:C	W81R	0.990
17:76733374:G:C	R135T	0.990
17:76733375:G:C	R135S	0.989
17:76733375:G:T	R135S	0.989
17:76733192:C:T	S100F	0.988
17:76729727:G:A	C6Y	0.987
17:76733192:C:A	S100Y	0.987
17:76733194:G:C	D101H	0.986
17:76732982:G:A	G30E	0.984
17:76733041:T:C	S50P	0.984
17:76729722:G:C	W4C	0.983
17:76729722:G:T	W4C	0.983
17:76733002:G:A	G37R	0.983
17:76733002:G:C	G37R	0.983
17:76733195:A:C	D101A	0.983
17:76729726:T:C	C6R	0.982
17:76729792:G:A	E28K	0.982
17:76733195:A:G	D101G	0.982
17:76733003:G:A	G37E	0.981
17:76733086:A:C	S65R	0.981

dbSNP variants (sampled 300 via entrez): RS1000076924 (17:76725230 G>A,C), RS1000259948 (17:76725092 G>A,C), RS1000350478 (17:76727001 C>T), RS1000383467 (17:76726831 T>C,G), RS1000770126 (17:76734278 G>A), RS1000987626 (17:76732300 G>C), RS1001322368 (17:76724896 G>A), RS1001429336 (17:76730148 C>T), RS1001859214 (17:76729800 A>G), RS1002036616 (17:76732375 C>T), RS1002211918 (17:76725018 C>G,T), RS1002493619 (17:76732517 G>A), RS1002911686 (17:76734159 A>G), RS1003130519 (17:76728367 C>G), RS1003238816 (17:76732959 A>G)

Disease associations

OMIM: gene MIM:615262 | disease phenotypes: MIM:615942

GenCC curated gene-disease

Disease	Classification	Inheritance
intellectual disability, autosomal recessive 44	Definitive	Autosomal recessive
autosomal recessive non-syndromic intellectual disability	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
intellectual disability	Definitive	AR

Mondo (3): intellectual disability, autosomal recessive 44 (MONDO:0014409), intellectual disability (MONDO:0001071), autosomal recessive non-syndromic intellectual disability (MONDO:0019502)

Orphanet (2): Autosomal recessive non-syndromic intellectual disability (Orphanet:88616), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

16 total (16 of 16 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000049	Shawl scrotum
HP:0000193	Bifid uvula
HP:0000233	Thin vermilion border
HP:0000343	Long philtrum
HP:0000463	Anteverted nares
HP:0001249	Intellectual disability
HP:0001252	Hypotonia
HP:0001256	Mild intellectual disability
HP:0001263	Global developmental delay
HP:0001763	Pes planus
HP:0002069	Bilateral tonic-clonic seizure
HP:0003593	Infantile onset
HP:0005280	Depressed nasal bridge
HP:0005469	Flat occiput
HP:0007359	Focal-onset seizure

GWAS associations

0 associations (top):

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

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Indomethacin	decreases expression, increases expression, affects cotreatment	2
Particulate Matter	decreases expression, decreases reaction, increases abundance	2
aristolochic acid I	decreases expression	1
GSK-J4	decreases expression	1
bisphenol F	decreases expression, affects cotreatment	1
dicrotophos	decreases expression	1
sodium arsenite	affects cotreatment, decreases expression, increases abundance	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
K 7174	increases expression	1
abrine	increases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	decreases reaction, decreases expression	1
(+)-JQ1 compound	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Temozolomide	increases expression	1
Acetaminophen	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	affects cotreatment, decreases expression, increases abundance	1
Vehicle Emissions	decreases expression, decreases reaction	1
Benzo(a)pyrene	affects methylation	1
Cisplatin	decreases expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Manganese	affects cotreatment, decreases expression, increases abundance	1
Plant Extracts	affects cotreatment, increases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	affects expression	1
1-Methyl-3-isobutylxanthine	decreases expression, affects cotreatment	1
Lactic Acid	decreases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_SY03	HAP1 METTL23 (-) 1	Cancer cell line	Male
CVCL_SY04	HAP1 METTL23 (-) 2	Cancer cell line	Male

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