MANEA

Summary

MANEA (mannosidase endo-alpha, HGNC:21072) is a protein-coding gene on chromosome 6q16.1, encoding Glycoprotein endo-alpha-1,2-mannosidase (Q5SRI9).

N-glycosylation of proteins is initiated in the endoplasmic reticulum (ER) by the transfer of the preassembled oligosaccharide glucose-3-mannose-9-N-acetylglucosamine-2 from dolichyl pyrophosphate to acceptor sites on the target protein by an oligosaccharyltransferase complex. This core oligosaccharide is sequentially processed by several ER glycosidases and by an endomannosidase (E.C. 3.2.1.130), such as MANEA, in the Golgi. MANEA catalyzes the release of mono-, di-, and triglucosylmannose oligosaccharides by cleaving the alpha-1,2-mannosidic bond that links them to high-mannose glycans (Hamilton et al., 2005 [PubMed 15677381]).

Source: NCBI Gene 79694 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 85 total — 1 likely-pathogenic
• Phenotypes (HPO): 1
• MANE Select transcript: NM_024641

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21072
Approved symbol	MANEA
Name	mannosidase endo-alpha
Location	6q16.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ12838, mandaselin
Ensembl gene	ENSG00000172469
Ensembl biotype	protein_coding
OMIM	612327
Entrez	79694

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 7 protein_coding, 2 protein_coding_CDS_not_defined, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000358812, ENST00000369293, ENST00000474553, ENST00000682076, ENST00000682417, ENST00000682663, ENST00000683151, ENST00000683172, ENST00000684164, ENST00000684211, ENST00000684753, ENST00000934193

RefSeq mRNA: 1 — MANE Select: NM_024641 NM_024641

CCDS: CCDS5032

Canonical transcript exons

ENST00000358812 — 5 exons

Exon	Start	End
ENSE00001399595	95586402	95586983
ENSE00001449425	95605748	95609452
ENSE00003562686	95604827	95604903
ENSE00003631280	95596737	95596846
ENSE00003844368	95577535	95577638

Expression profiles

Bgee: expression breadth ubiquitous, 255 present calls, max score 85.31.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.2090 / max 88.6392, expressed in 1725 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
68928	10.2090	1725

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
adrenal tissue	UBERON:0018303	85.31	gold quality
ventricular zone	UBERON:0003053	84.50	gold quality
calcaneal tendon	UBERON:0003701	84.30	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.15	gold quality
pigmented layer of retina	UBERON:0001782	82.55	gold quality
rectum	UBERON:0001052	82.29	gold quality
islet of Langerhans	UBERON:0000006	82.19	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.15	gold quality
jejunal mucosa	UBERON:0000399	81.61	gold quality
ganglionic eminence	UBERON:0004023	81.36	gold quality
gall bladder	UBERON:0002110	81.11	gold quality
upper leg skin	UBERON:0004262	81.08	gold quality
liver	UBERON:0002107	80.48	gold quality
right lobe of liver	UBERON:0001114	80.13	gold quality
mucosa of sigmoid colon	UBERON:0004993	80.03	gold quality
skin of hip	UBERON:0001554	79.98	gold quality
parietal pleura	UBERON:0002400	79.71	gold quality
stromal cell of endometrium	CL:0002255	79.59	gold quality
endometrium	UBERON:0001295	79.48	gold quality
colonic epithelium	UBERON:0000397	79.27	gold quality
bone marrow cell	CL:0002092	78.92	gold quality
adipose tissue	UBERON:0001013	78.81	gold quality
lymph node	UBERON:0000029	78.53	gold quality
connective tissue	UBERON:0002384	78.30	gold quality
subcutaneous adipose tissue	UBERON:0002190	78.24	gold quality
popliteal artery	UBERON:0002250	78.19	gold quality
tibial artery	UBERON:0007610	78.17	gold quality
left coronary artery	UBERON:0001626	78.10	gold quality
monocyte	CL:0000576	78.04	gold quality
adipose tissue of abdominal region	UBERON:0007808	77.84	gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 6.

Experiment	Marker?	Max mean expression
E-GEOD-109979	yes	320.60
E-GEOD-100618	yes	217.12
E-CURD-46	yes	33.31
E-MTAB-8410	yes	26.74
E-ANND-3	yes	12.47
E-MTAB-9388	yes	6.78
E-MTAB-6058	no	461.61

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

174 targeting MANEA, 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-3163	100.00	77.23	8605
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867

Literature-anchored findings (GeneRIF, showing 3)

• We have cloned two novel endomannosidase sequences from rat and human cDNA libraries [and] confirm that endomannosidase is a type II membrane protein, like the majority of other secretory pathway glycosylation enzymes (PMID:15677381)
• Association of variants in MANEA with cocaine related behavior is established. (PMID:19255376)
• MANEA plays a role in anxiety disorders. (PMID:24473444)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	manea	ENSDARG00000001898
mus_musculus	Manea	ENSMUSG00000040520
rattus_norvegicus	Manea	ENSRNOG00000008626
drosophila_melanogaster	CG14015	FBGN0031716

Paralogs (1): MANEAL (ENSG00000185090)

Protein

Protein identifiers

Glycoprotein endo-alpha-1,2-mannosidase — Q5SRI9 (reviewed: Q5SRI9)

Alternative names: Mandaselin

All UniProt accessions (4): Q5SRI9, A0A804HHU5, A0A804HID7, X6R7A2

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Golgi apparatus membrane.

Tissue specificity. Highly expressed in the liver and kidney. Expressed at lower levels in muscle, pancreas, heart, placenta, lung and brain.

Post-translational modifications. Undergoes proteolytic cleavage in the C-terminal region.

Similarity. Belongs to the glycosyl hydrolase 99 family.

RefSeq proteins (1): NP_078917* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR017853	GH_hydrolase_sf	Homologous_superfamily
IPR026071	Glyco_Hydrolase_99	Family

Pfam: PF16317

Enzyme classification (BRENDA):

• EC 3.2.1.130 — glycoprotein endo-alpha-1,2-mannosidase (BRENDA: 12 organisms, 47 substrates, 21 inhibitors, 7 Km, 6 kcat entries)

Substrate kinetics (BRENDA)

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

Substrate	Km (mM)	Measurements
ALPHA-GLUCOPYRANOSYL-(1->3)-ALPHA-MANNOPYRANOSYL	0.48–2.6	3
4-METHYLUMBELLIFERYL (ALPHA-D-MANNOPYRANOSYL)-(1	0.038–1.827	2
4-METHYLUMBELLIFERYL (ALPHA-D-GLUCOPYRANOSYL)-(1	0.404	1

Catalyzed reactions (Rhea), 1 shown:

• N-{alpha-Glc-(1->3)-alpha-Man-(1->2)-alpha-Man-(1->2)-alpha-Man-(1->3)-[alpha-Man-(1->2)-alpha-Man-(1->3)-[alpha-Man-(1->2)-alpha-Man-(1->6)]-alpha-Man-(1->6)]-beta-Man-(1->4)-beta-GlcNAc-(1->4)-beta-GlcNAc}-L-asparaginyl-[protein] + H2O = alpha-D-glucosyl-(1->3)-D-mannopyranose + N(4)-{alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlaNAc-(1->4)-beta-D-GlcNAc}-L-asparaginyl-[protein] (N-glucan mannose isomer 8A1,2,3B1,2) (RHEA:54824)

UniProt features (42 total): helix 15, strand 14, turn 4, sequence conflict 3, topological domain 2, chain 1, transmembrane region 1, region of interest 1, sequence variant 1

Structure

Experimental structures (PDB)

9 structures.

PDB	Method	Resolution (Å)
6ZFN	X-RAY DIFFRACTION	1.1
6ZFQ	X-RAY DIFFRACTION	1.2
6ZFA	X-RAY DIFFRACTION	1.8
6ZDL	X-RAY DIFFRACTION	1.9
6ZJ1	X-RAY DIFFRACTION	1.96
6ZDK	X-RAY DIFFRACTION	2
6ZDC	X-RAY DIFFRACTION	2.25
6ZJ5	X-RAY DIFFRACTION	2.27
6ZDF	X-RAY DIFFRACTION	3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5SRI9-F1	86.82	0.74

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-964739	N-glycan trimming and elongation in the cis-Golgi
R-HSA-392499	Metabolism of proteins
R-HSA-446203	Asparagine N-linked glycosylation
R-HSA-597592	Post-translational protein modification
R-HSA-948021	Transport to the Golgi and subsequent modification

MSigDB gene sets: 121 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_DN, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, WEI_MYCN_TARGETS_WITH_E_BOX, GARY_CD5_TARGETS_DN, DODD_NASOPHARYNGEAL_CARCINOMA_UP, VECCHI_GASTRIC_CANCER_EARLY_DN, CHANG_IMMORTALIZED_BY_HPV31_UP, RFX1_01, GOMF_MANNOSIDASE_ACTIVITY, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_GLYCOSYL_BONDS, STEIN_ESRRA_TARGETS_RESPONSIVE_TO_ESTROGEN_DN, GOMF_HYDROLASE_ACTIVITY_HYDROLYZING_O_GLYCOSYL_COMPOUNDS, REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_UP, KRIGE_RESPONSE_TO_TOSEDOSTAT_6HR_DN

GO Biological Process (0):

GO Molecular Function (4): alpha-mannosidase activity (GO:0004559), glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569), hydrolase activity (GO:0016787), hydrolase activity, acting on glycosyl bonds (GO:0016798)

GO Cellular Component (3): Golgi membrane (GO:0000139), Golgi apparatus (GO:0005794), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Transport to the Golgi and subsequent modification	1
Post-translational protein modification	1
Metabolism of proteins	1
Asparagine N-linked glycosylation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
mannosidase activity	1
alpha-mannosidase activity	1
catalytic activity	1
hydrolase activity	1
Golgi apparatus	1
bounding membrane of organelle	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

2313 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MANEA	MAN1B1	Q9UKM7	935
MANEA	MGAT5B	Q3V5L5	475
MANEA	COL18A1	P39060	471
MANEA	MOGS	Q13724	469
MANEA	KLHL32	Q96NJ5	441
MANEA	GPR63	Q9BZJ6	423
MANEA	DPH6	Q7L8W6	415
MANEA	B4GALT3	O60512	413
MANEA	MMS22L	Q6ZRQ5	409
MANEA	WSCD1	Q658N2	399
MANEA	EPHA8	P29322	398
MANEA	CFAP20DC	Q6ZVT6	398
MANEA	PLEKHN1	Q494U1	396
MANEA	FUT9	Q9Y231	394
MANEA	EPHA6	Q9UF33	394

IntAct

60 interactions, top by confidence:

A	B	Type	Score
TRDN	TMEM223	psi-mi:“MI:0914”(association)	0.640
OLFM1	OLFM2	psi-mi:“MI:0914”(association)	0.640
MME	TMEM223	psi-mi:“MI:0914”(association)	0.530
TMEM30B	KLRG2	psi-mi:“MI:0914”(association)	0.530
CNDP1	POTEF	psi-mi:“MI:0914”(association)	0.530
ANTXR1	POTEF	psi-mi:“MI:0914”(association)	0.530
UGT1A10	A2ML1	psi-mi:“MI:0914”(association)	0.530
SCN3B	ABCC5	psi-mi:“MI:0914”(association)	0.530
TRHDE	MAN1A2	psi-mi:“MI:0914”(association)	0.530
AOC3	AOC2	psi-mi:“MI:0914”(association)	0.530
CSGALNACT2	GOLIM4	psi-mi:“MI:0914”(association)	0.530
SIDT2	AP3D1	psi-mi:“MI:0914”(association)	0.530
CHRNA4	FZD6	psi-mi:“MI:0914”(association)	0.530
FLVCR1	TNFRSF10B	psi-mi:“MI:0914”(association)	0.530
SLC39A12	POM121C	psi-mi:“MI:0914”(association)	0.350
PLAUR	DDX11L8	psi-mi:“MI:0914”(association)	0.350
CSGALNACT2	CLASP2	psi-mi:“MI:0914”(association)	0.350
CD79B	GOLIM4	psi-mi:“MI:0914”(association)	0.350
CLU	TOR1A	psi-mi:“MI:0914”(association)	0.350
GGT7	ENTPD6	psi-mi:“MI:0914”(association)	0.350
OLFM1		psi-mi:“MI:0914”(association)	0.350
TTYH1	TMEM223	psi-mi:“MI:0914”(association)	0.350
BSCL2	TMEM223	psi-mi:“MI:0914”(association)	0.350
CHRNA4	TMEM223	psi-mi:“MI:0914”(association)	0.350

BioGRID (82): MANEA (Affinity Capture-MS), MANEA (Affinity Capture-MS), MANEA (Affinity Capture-MS), MANEA (Affinity Capture-MS), MANEA (Affinity Capture-MS), MANEA (Affinity Capture-MS), MANEA (Affinity Capture-MS), MANEA (Affinity Capture-MS), MANEA (Affinity Capture-MS), MANEA (Affinity Capture-MS), MANEA (Affinity Capture-MS), MANEA (Affinity Capture-MS), MANEA (Affinity Capture-MS), MANEA (Affinity Capture-MS), MANEA (Affinity Capture-MS)

ESM2 similar proteins: A0A0A1H7M6, A1YGR5, A1YGR6, E9KID2, E9KID3, F4HXW9, G7LG31, O00469, O36022, O43909, O74745, P14769, P23336, P39107, P50127, P53697, P97259, Q00314, Q08834, Q09199, Q09328, Q1L8D2, Q3L7M0, Q3U4G3, Q494Q2, Q5GF25, Q5RD93, Q5SRI9, Q5ZLK4, Q6DE40, Q6NXH2, Q7YQE1, Q805R1, Q80RC7, Q811A3, Q866Z4, Q8H1E6, Q8LPF8, Q8R4G6, Q8W486

Diamond homologs: Q1L8D2, Q5GF25, Q5RD93, Q5SRI9, Q5VSG8, Q6DE40, Q6NXH2, Q6P1J0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	76
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
974789	GRCh37/hg19 6q16.1(chr6:96028232-97247130)x1	Likely pathogenic

SpliceAI

679 predictions. Top by Δscore:

Variant	Effect	Δscore
6:95586390:A:AG	acceptor_gain	1.0000
6:95596721:T:TA	acceptor_gain	1.0000
6:95604825:A:C	acceptor_loss	1.0000
6:95604826:G:A	acceptor_loss	1.0000
6:95604885:TC:T	donor_gain	1.0000
6:95604899:GACAA:G	donor_gain	1.0000
6:95604904:G:GG	donor_gain	1.0000
6:95586391:A:G	acceptor_gain	0.9900
6:95586394:A:G	acceptor_gain	0.9900
6:95586400:A:AG	acceptor_gain	0.9900
6:95586401:G:GG	acceptor_gain	0.9900
6:95586401:GC:G	acceptor_gain	0.9900
6:95586401:GCA:G	acceptor_gain	0.9900
6:95586401:GCAAA:G	acceptor_gain	0.9900
6:95596733:TTAG:T	acceptor_loss	0.9900
6:95596734:TAG:T	acceptor_loss	0.9900
6:95596735:A:C	acceptor_loss	0.9900
6:95596736:G:GA	acceptor_loss	0.9900
6:95596842:TAAAG:T	donor_loss	0.9900
6:95596843:AAAG:A	donor_loss	0.9900
6:95596844:AAGG:A	donor_loss	0.9900
6:95596845:AG:A	donor_loss	0.9900
6:95596846:GG:G	donor_loss	0.9900
6:95596847:G:A	donor_loss	0.9900
6:95596848:T:A	donor_loss	0.9900
6:95604824:TAGG:T	acceptor_gain	0.9900
6:95604825:A:AG	acceptor_gain	0.9900
6:95604826:G:GG	acceptor_gain	0.9900
6:95604826:GGTT:G	acceptor_gain	0.9900
6:95604826:GGTTA:G	acceptor_gain	0.9900

AlphaMissense

3060 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:95606229:T:A	W405R	1.000
6:95606229:T:C	W405R	1.000
6:95605986:T:C	F324L	0.999
6:95605988:T:A	F324L	0.999
6:95605988:T:G	F324L	0.999
6:95606079:A:C	S355R	0.999
6:95606081:T:A	S355R	0.999
6:95606081:T:G	S355R	0.999
6:95606118:T:A	W368R	0.999
6:95606118:T:C	W368R	0.999
6:95586806:T:A	W123R	0.998
6:95586806:T:C	W123R	0.998
6:95606092:G:A	G359E	0.998
6:95606113:G:C	R366P	0.998
6:95606120:G:C	W368C	0.998
6:95606120:G:T	W368C	0.998
6:95606218:C:T	S401F	0.998
6:95606225:T:A	N403K	0.998
6:95606225:T:G	N403K	0.998
6:95606231:G:C	W405C	0.998
6:95606231:G:T	W405C	0.998
6:95606238:G:A	G408R	0.998
6:95606238:G:C	G408R	0.998
6:95586923:A:C	S162R	0.997
6:95586925:T:A	S162R	0.997
6:95586925:T:G	S162R	0.997
6:95596754:T:A	W188R	0.997
6:95596754:T:C	W188R	0.997
6:95605848:T:A	W278R	0.997
6:95605848:T:C	W278R	0.997

dbSNP variants (sampled 300 via entrez): RS1000005056 (6:95575540 G>C), RS1000085965 (6:95583794 T>G), RS1000135596 (6:95608922 G>A), RS1000162269 (6:95592727 C>A,T), RS1000241231 (6:95603321 G>A), RS1000290800 (6:95583510 A>C), RS1000318228 (6:95600316 G>A), RS1000329770 (6:95596603 G>A), RS1000385831 (6:95586290 C>G), RS1000530862 (6:95579223 A>C), RS1000622563 (6:95585028 C>T), RS1000647625 (6:95600734 A>C), RS1000778091 (6:95591654 C>A), RS1000845876 (6:95596236 T>C,G), RS1001057631 (6:95598650 G>A,T)

Disease associations

OMIM: gene MIM:612327 | disease phenotypes:

GenCC curated gene-disease

Mondo (2): intellectual disability (MONDO:0001071), microcephaly (MONDO:0001149)

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

HPO phenotypes

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

HPO	Term
HP:0000252	Microcephaly

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST003059_11	Parkinson’s disease	1.000000e-06
GCST006585_494	Blood protein levels	0.000000e+00
GCST90011899_25	Aspartate aminotransferase levels	3.000000e-09

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004736	aspartate aminotransferase measurement

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D008831	Microcephaly	C05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
perfluorooctane sulfonic acid	decreases expression	2
Estradiol	decreases expression, increases expression	2
aristolochic acid I	decreases expression	1
dicrotophos	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
sodium arsenite	decreases expression	1
butyraldehyde	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
perfluoro-n-nonanoic acid	decreases expression	1
abrine	decreases expression	1
bisphenol S	increases methylation	1
jinfukang	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	decreases expression	1
Acetaminophen	decreases expression	1
Atrazine	decreases expression	1
Benzo(a)pyrene	decreases expression	1
Clorgyline	increases expression	1
Cocaine	affects response to substance	1
Coumestrol	increases expression, affects cotreatment	1
Dimethyl Sulfoxide	increases expression	1
Doxorubicin	decreases expression	1
Formaldehyde	decreases expression	1
Hydrogen Peroxide	affects expression	1
Methyl Methanesulfonate	decreases expression	1
Nickel	decreases expression	1
Quercetin	decreases expression	1
Tetrachlorodibenzodioxin	affects expression	1

Clinical trials (associated diseases)

211 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