CEP89

Summary

CEP89 (centrosomal protein 89, HGNC:25907) is a protein-coding gene on chromosome 19q13.11, encoding Centrosomal protein of 89 kDa (Q96ST8). Required for ciliogenesis.

Involved in mitochondrial cytochrome c oxidase assembly and non-motile cilium assembly. Acts upstream of or within cilium assembly. Located in several cellular components, including microtubule cytoskeleton; mitochondrial intermembrane space; and nuclear body. Part of ciliary transition fiber.

Source: NCBI Gene 84902 — RefSeq curated summary.

At a glance

• Gene–disease (curated): intellectual disability (Limited, GenCC) — +1 more curated relationship
• GWAS associations: 10
• Clinical variants (ClinVar): 385 total — 1 likely-pathogenic
• Phenotypes (HPO): 1
• Cancer driver (intOGen): activating (oncogene-like) across 1 cancer types
• MANE Select transcript: NM_032816

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25907
Approved symbol	CEP89
Name	centrosomal protein 89
Location	19q13.11
Locus type	gene with protein product
Status	Approved
Aliases	FLJ14640
Ensembl gene	ENSG00000121289
Ensembl biotype	protein_coding
OMIM	615470
Entrez	84902

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 10 protein_coding, 2 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay, 1 retained_intron

ENST00000305768, ENST00000586628, ENST00000586984, ENST00000590597, ENST00000591205, ENST00000591698, ENST00000591863, ENST00000592401, ENST00000593276, ENST00000909768, ENST00000909769, ENST00000959602, ENST00000959603, ENST00000959604, ENST00000959605

RefSeq mRNA: 1 — MANE Select: NM_032816 NM_032816

CCDS: CCDS32987

Canonical transcript exons

ENST00000305768 — 19 exons

Exon	Start	End
ENSE00001161141	32875925	32879378
ENSE00001161193	32939857	32939885
ENSE00001161201	32953615	32953801
ENSE00001161207	32959900	32960058
ENSE00001161311	32966360	32966466
ENSE00001185223	32948266	32948368
ENSE00001185236	32937631	32937673
ENSE00003482751	32926190	32926273
ENSE00003493036	32887752	32887841
ENSE00003494495	32899857	32899998
ENSE00003497598	32901245	32901412
ENSE00003510870	32915337	32915517
ENSE00003529406	32881844	32882013
ENSE00003535423	32933451	32933669
ENSE00003586029	32923439	32923542
ENSE00003612239	32931429	32931571
ENSE00003661992	32926934	32926984
ENSE00003670277	32918224	32918339
ENSE00003843910	32971836	32971958

Expression profiles

Bgee: expression breadth ubiquitous, 211 present calls, max score 91.55.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.9758 / max 167.7806, expressed in 1788 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
180401	15.8729	1784
180400	1.1030	724

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	91.55	gold quality
ventricular zone	UBERON:0003053	90.33	gold quality
ganglionic eminence	UBERON:0004023	89.17	gold quality
tendon of biceps brachii	UBERON:0008188	88.72	gold quality
kidney epithelium	UBERON:0004819	87.85	gold quality
calcaneal tendon	UBERON:0003701	85.25	gold quality
tendon	UBERON:0000043	84.96	gold quality
epithelial cell of pancreas	CL:0000083	84.04	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.65	gold quality
stromal cell of endometrium	CL:0002255	83.59	gold quality
sural nerve	UBERON:0015488	83.20	gold quality
body of uterus	UBERON:0009853	83.00	gold quality
endothelial cell	CL:0000115	82.49	gold quality
pancreatic ductal cell	CL:0002079	82.39	silver quality
left ovary	UBERON:0002119	82.30	gold quality
right ovary	UBERON:0002118	82.19	gold quality
popliteal artery	UBERON:0002250	82.10	gold quality
tibial artery	UBERON:0007610	82.10	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	82.09	gold quality
lower esophagus muscularis layer	UBERON:0035833	81.85	gold quality
endocervix	UBERON:0000458	81.84	gold quality
lower esophagus	UBERON:0013473	81.83	gold quality
right uterine tube	UBERON:0001302	81.80	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	81.76	gold quality
smooth muscle tissue	UBERON:0001135	81.67	gold quality
islet of Langerhans	UBERON:0000006	81.62	gold quality
aorta	UBERON:0000947	81.54	gold quality
ectocervix	UBERON:0012249	81.52	gold quality
muscle layer of sigmoid colon	UBERON:0035805	81.48	gold quality
tibial nerve	UBERON:0001323	81.30	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.19

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

12 targeting CEP89, 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-6875-3P	99.82	70.26	2983
HSA-MIR-6752-3P	99.72	66.71	1587
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-18A-3P	99.56	65.68	1092
HSA-MIR-6829-5P	98.86	65.12	1480
HSA-MIR-1246	98.54	66.21	959
HSA-MIR-6502-3P	97.86	65.43	569
HSA-MIR-1972	97.67	67.38	1172
HSA-MIR-4786-5P	97.45	67.89	924
HSA-MIR-194-3P	97.36	65.96	1027
HSA-MIR-3173-5P	97.35	65.82	1282
HSA-MIR-6799-3P	97.35	65.60	1302

Literature-anchored findings (GeneRIF, showing 1)

• CEP89 proteins play an important role in mitochondrial metabolism, especially complex IV activity, and are required for neuronal and cognitive function across evolution. (PMID:23575228)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Cep89	ENSMUSG00000023072
rattus_norvegicus	Cep89	ENSRNOG00000012140

Protein

Protein identifiers

Centrosomal protein of 89 kDa — Q96ST8 (reviewed: Q96ST8)

Alternative names: Centrosomal protein 123, Coiled-coil domain-containing protein 123

All UniProt accessions (6): A0A087WXS8, A0A0C4DGP8, Q96ST8, K7EJF0, K7EPU8, K7EQI2

UniProt curated annotations — full annotation on UniProt →

Function. Required for ciliogenesis. Also plays a role in mitochondrial metabolism where it may modulate complex IV activity.

Subcellular location. Cytoplasm. Cytosol. Cytoskeleton. Microtubule organizing center. Centrosome. Spindle pole. Centriole. Mitochondrion intermembrane space.

Disease relevance. Homozygous deletion comprising CEP89 and SLC7A9 genes has been reported in a patient with isolated complex IV deficiency, intellectual disability and multisystemic problems that include cystinuria, cataract, broad based walking pattern and deafness.

Isoforms (3)

UniProt ID	Names	Canonical?
Q96ST8-1	1	yes
Q96ST8-2	2
Q96ST8-3	3

RefSeq proteins (1): NP_116205* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR033545	CEP89	Family

UniProt features (16 total): compositionally biased region 4, region of interest 3, splice variant 3, sequence variant 2, coiled-coil region 2, chain 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96ST8-F1	70.08	0.35

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): 50

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-5620912	Anchoring of the basal body to the plasma membrane
R-HSA-1852241	Organelle biogenesis and maintenance
R-HSA-5617833	Cilium Assembly

MSigDB gene sets: 128 (showing top): GOBP_RESPIRATORY_CHAIN_COMPLEX_IV_ASSEMBLY, GOBP_MITOCHONDRIAL_RESPIRATORY_CHAIN_COMPLEX_ASSEMBLY, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_CELL_CELL_SIGNALING, GOBP_CYTOCHROME_COMPLEX_ASSEMBLY, GOBP_CILIUM_ORGANIZATION, GOCC_CENTROSOME, GOCC_MITOCHONDRIAL_ENVELOPE, GOBP_ORGANELLE_ASSEMBLY, GOBP_SYNAPTIC_SIGNALING, GOBP_CELL_PROJECTION_ORGANIZATION, GOCC_SPINDLE, GOCC_CENTRIOLE, GOCC_MOTILE_CILIUM, GOCC_SYNAPSE

GO Biological Process (6): mitochondrion organization (GO:0007005), chemical synaptic transmission (GO:0007268), mitochondrial respiratory chain complex IV assembly (GO:0033617), cilium assembly (GO:0060271), non-motile cilium assembly (GO:1905515), cell projection organization (GO:0030030)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (15): spindle pole (GO:0000922), mitochondrial intermembrane space (GO:0005758), centrosome (GO:0005813), centriole (GO:0005814), cytosol (GO:0005829), cilium (GO:0005929), nuclear body (GO:0016604), motile cilium (GO:0031514), ciliary basal body (GO:0036064), synapse (GO:0045202), ciliary transition fiber (GO:0097539), non-motile cilium (GO:0097730), cytoplasm (GO:0005737), mitochondrion (GO:0005739), cytoskeleton (GO:0005856)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Assembly of the 9+0 primary cilium	1
Organelle biogenesis and maintenance	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cilium	4
cellular anatomical structure	3
microtubule organizing center	3
intracellular membraneless organelle	3
cytoplasm	2
organelle organization	1
anterograde trans-synaptic signaling	1
mitochondrion	1
respiratory chain complex IV assembly	1
mitochondrial respiratory chain complex assembly	1
axoneme assembly	1
intraciliary transport involved in cilium assembly	1
cilium organization	1
protein localization to cilium	1
organelle assembly	1
trans-Golgi to periciliary membrane compartment transport	1
plasma membrane bounded cell projection assembly	1
ciliary transition zone assembly	1
cilium assembly	1
cellular component organization	1
binding	1
spindle	1
mitochondrial envelope	1
organelle envelope lumen	1
centriole	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
nucleoplasm	1
cell junction	1
intracellular protein-containing complex	1
intracellular anatomical structure	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

744 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CEP89	SCLT1	Q96NL6	988
CEP89	CEP83	Q9Y592	978
CEP89	FBF1	Q8TES7	943
CEP89	CEP164	Q9UPV0	919
CEP89	LRRC45	Q96CN5	782
CEP89	C2CD3	Q4AC94	745
CEP89	CEP128	Q6ZU80	745
CEP89	CCP110	O43303	698
CEP89	TTBK2	Q6IQ55	669
CEP89	CEP19	Q96LK0	646
CEP89	CEP170	Q5SW79	635
CEP89	CCDC120	Q96HB5	634
CEP89	CEP350	Q5VT06	624
CEP89	NIN	Q8N4C6	621
CEP89	CEP120	Q8N960	610

IntAct

59 interactions, top by confidence:

A	B	Type	Score
YWHAG	BLTP3B	psi-mi:“MI:2364”(proximity)	0.640
YWHAH	PLEKHG3	psi-mi:“MI:0914”(association)	0.610
YWHAE	RGS12	psi-mi:“MI:0914”(association)	0.610
YWHAB	BLTP3B	psi-mi:“MI:2364”(proximity)	0.610
YWHAH	BLTP3B	psi-mi:“MI:2364”(proximity)	0.570
YWHAE	SRSF10	psi-mi:“MI:0914”(association)	0.560
PICK1	ILVBL	psi-mi:“MI:0914”(association)	0.530
YWHAQ	IGLC7	psi-mi:“MI:0914”(association)	0.530
NCS1	NMT2	psi-mi:“MI:0914”(association)	0.530
PICK1	ATP6AP2	psi-mi:“MI:0914”(association)	0.530
CEP162	CCP110	psi-mi:“MI:2364”(proximity)	0.420
CEP89	FXR1	psi-mi:“MI:0915”(physical association)	0.370
HIF1AN	CNOT1	psi-mi:“MI:0914”(association)	0.350
PMF1	RGPD8	psi-mi:“MI:0914”(association)	0.350
YWHAB	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
YWHAG	C1orf226	psi-mi:“MI:0914”(association)	0.350
ZBTB18	DNASE1L1	psi-mi:“MI:0914”(association)	0.350
HASPIN	MYO1C	psi-mi:“MI:0914”(association)	0.350
CEP63	CIBAR1	psi-mi:“MI:0914”(association)	0.350
YWHAB	FOXO6	psi-mi:“MI:0914”(association)	0.350
YWHAG	FOXO6	psi-mi:“MI:0914”(association)	0.350
YWHAQ	FOXO6	psi-mi:“MI:0914”(association)	0.350
YWHAH	FOXO6	psi-mi:“MI:0914”(association)	0.350
MAGEA9	CIBAR1	psi-mi:“MI:0914”(association)	0.350
WHAMMP3	EXOC5	psi-mi:“MI:0914”(association)	0.350
ZNF263	PPP1R12A	psi-mi:“MI:0914”(association)	0.350
BRK1	KIF5C	psi-mi:“MI:0914”(association)	0.350
CEP89	MLLT3	psi-mi:“MI:0914”(association)	0.350

BioGRID (168): CEP89 (Affinity Capture-MS), CEP89 (Proximity Label-MS), CEP89 (Proximity Label-MS), CEP89 (Proximity Label-MS), ABLIM1 (Proximity Label-MS), ANKRD26 (Proximity Label-MS), ANXA1 (Proximity Label-MS), ATG2B (Proximity Label-MS), CEP131 (Proximity Label-MS), C3orf14 (Proximity Label-MS), CC2D1A (Proximity Label-MS), CCDC138 (Proximity Label-MS), CCDC14 (Proximity Label-MS), CCDC66 (Proximity Label-MS), CCDC77 (Proximity Label-MS)

ESM2 similar proteins: A0A1L8GUX5, A0A1L8GXY6, A0A1W2P884, A2CE83, B8A5S6, E7F5E1, F7DP49, H2MTR9, O08970, O35711, O60296, P27628, P53564, P60853, Q0VF96, Q28GJ0, Q2KJD6, Q3UIJ9, Q4V7D3, Q5BIX7, Q5R923, Q5SXA9, Q5SZL2, Q5U2Y9, Q5U4W1, Q5ZLT3, Q6AW69, Q6DIS8, Q6DJR2, Q6NRW2, Q6NXJ0, Q6P402, Q6PCQ0, Q6PD31, Q7TQE6, Q80ST9, Q86W92, Q8BMK0, Q8C8U0, Q8CFC9

Diamond homologs: Q6P402, Q96ST8, Q9CZX2

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 61 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
Activation of BAD and translocation to mitochondria	7	136.7×	2e-12
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	7	120.6×	3e-12
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	7	120.6×	3e-12
Activation of BH3-only proteins	7	89.1×	2e-11
RHO GTPases activate PKNs	8	65.1×	1e-11
Intrinsic Pathway for Apoptosis	7	52.6×	1e-09
FOXO-mediated transcription	5	43.1×	7e-07
Translocation of SLC2A4 (GLUT4) to the plasma membrane	9	35.6×	6e-11

GO biological processes:

GO term	Partners	Fold	FDR
protein targeting	5	34.6×	6e-05
intracellular protein localization	8	15.8×	1e-05

Disease & clinical

Cancer significance

From intOGen — cancer-driver classification: activating (oncogene-like) across 1 cancer types — COADREAD.

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	211
Likely benign	105
Benign	34

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
560031	Single allele	Likely pathogenic

SpliceAI

3159 predictions. Top by Δscore:

Variant	Effect	Δscore
19:32881839:CCCAC:C	donor_loss	1.0000
19:32881840:CCAC:C	donor_loss	1.0000
19:32881841:CACCT:C	donor_loss	1.0000
19:32881843:C:T	donor_loss	1.0000
19:32881874:T:TA	donor_gain	1.0000
19:32882012:CC:C	acceptor_gain	1.0000
19:32882013:CC:C	acceptor_gain	1.0000
19:32882019:C:CT	acceptor_gain	1.0000
19:32899850:AACTT:A	donor_loss	1.0000
19:32899851:ACTTA:A	donor_loss	1.0000
19:32899852:CT:C	donor_loss	1.0000
19:32899853:TT:T	donor_loss	1.0000
19:32899854:TACCA:T	donor_loss	1.0000
19:32899855:A:AG	donor_loss	1.0000
19:32899856:CCAAA:C	donor_gain	1.0000
19:32900013:C:T	acceptor_gain	1.0000
19:32900013:CAAA:C	acceptor_gain	1.0000
19:32900014:A:T	acceptor_gain	1.0000
19:32901241:AAACC:A	donor_loss	1.0000
19:32901242:AACCT:A	donor_loss	1.0000
19:32901243:A:AC	donor_gain	1.0000
19:32901243:ACC:A	donor_loss	1.0000
19:32901244:C:CC	donor_gain	1.0000
19:32901247:A:AC	donor_gain	1.0000
19:32901408:ATTGG:A	acceptor_gain	1.0000
19:32901409:TTGG:T	acceptor_gain	1.0000
19:32901410:TGG:T	acceptor_gain	1.0000
19:32901411:GG:G	acceptor_gain	1.0000
19:32901413:C:CC	acceptor_gain	1.0000
19:32915333:TTA:T	donor_loss	1.0000

AlphaMissense

5171 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:32931472:A:G	L329P	0.992
19:32899876:C:G	R619P	0.989
19:32918320:C:G	A430P	0.989
19:32960038:A:T	I56N	0.984
19:32926939:A:G	W359R	0.981
19:32926939:A:T	W359R	0.981
19:32960038:A:G	I56T	0.980
19:32960038:A:C	I56S	0.974
19:32918298:T:A	N437I	0.973
19:32899867:A:G	L622P	0.972
19:32960045:C:G	A54P	0.972
19:32931484:A:G	L325S	0.970
19:32966431:G:C	S25R	0.970
19:32966431:G:T	S25R	0.970
19:32966433:T:G	S25R	0.970
19:32899918:A:G	L605P	0.969
19:32915496:A:G	L469P	0.968
19:32931526:A:G	L311P	0.968
19:32881901:A:G	L693P	0.967
19:32931493:A:T	V322D	0.967
19:32931468:A:C	S330R	0.966
19:32931468:A:T	S330R	0.966
19:32931470:T:G	S330R	0.966
19:32960041:G:T	A55D	0.966
19:32899909:A:G	L608P	0.963
19:32931450:G:C	F336L	0.963
19:32931450:G:T	F336L	0.963
19:32931452:A:G	F336L	0.963
19:32931487:C:G	R324P	0.963
19:32960023:A:G	L61S	0.961

dbSNP variants (sampled 300 via entrez): RS1000015369 (19:32960763 T>C), RS1000044292 (19:32916989 C>A), RS1000127090 (19:32967711 C>G), RS1000142132 (19:32907396 C>G), RS1000146298 (19:32923740 T>G), RS1000150179 (19:32934470 C>T), RS1000153741 (19:32911023 T>C), RS1000190939 (19:32927780 T>C), RS1000200922 (19:32957960 C>T), RS1000231144 (19:32910740 G>A,C), RS1000248321 (19:32967475 A>G), RS1000275787 (19:32944100 A>T), RS1000368695 (19:32947665 T>A), RS1000400094 (19:32895560 G>A), RS1000410692 (19:32889290 C>G,T)

Disease associations

OMIM: gene MIM:615470 | disease phenotypes: MIM:220100

GenCC curated gene-disease

Disease	Classification	Inheritance
intellectual disability	Limited	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
mitochondrial disease	Disputed	AR

Mondo (2): cystinuria (MONDO:0009067), intellectual disability (MONDO:0001071)

Orphanet (1): Cystinuria (Orphanet:214)

HPO phenotypes

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

HPO	Term
HP:0003131	Cystinuria

GWAS associations

10 associations (top):

Study	Trait	p-value
GCST000649_8	Chronic kidney disease	3.000000e-15
GCST008058_203	Estimated glomerular filtration rate	1.000000e-63
GCST008059_113	Estimated glomerular filtration rate	9.000000e-61
GCST008064_11	Chronic kidney disease	2.000000e-06
GCST008600_3	Longevity (age >90th survival percentile)	4.000000e-07
GCST008745_24	Estimated glomerular filtration rate in non-diabetics	4.000000e-23
GCST008972_192	Urate levels	3.000000e-15
GCST009391_1536	Metabolite levels	5.000000e-09
GCST012020_538	Serum metabolite levels	2.000000e-21
GCST012488_10	L1-L4 bone mineral density x serum urate levels interaction	6.000000e-06

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004531	urate measurement
EFO:0010510	NG-monomethyl-arginine measurement
EFO:0007701	spine bone mineral density

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D003555	Cystinuria	C12.050.351.968.419.815.885.250; C12.200.777.419.815.885.250; C12.950.419.815.885.250; C16.320.831.885.250
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

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

Chemical	Actions (top 5)	PubMed papers
trichostatin A	affects cotreatment, decreases expression	2
Acetaminophen	increases expression	2
aristolochic acid I	increases expression	1
geldanamycin	increases expression	1
methylmercuric chloride	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression	1
beta-lapachone	decreases expression	1
sodium arsenite	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment	1
torcetrapib	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
Temozolomide	decreases expression	1
Vorinostat	decreases expression	1
Caffeine	decreases phosphorylation	1
Cisplatin	decreases expression	1
Doxorubicin	decreases expression	1
Hydrogen Peroxide	affects expression	1
Lead	increases expression	1
Methyl Methanesulfonate	increases expression	1
Oligomycins	increases expression	1
Quercetin	increases expression	1
Smoke	decreases expression	1
Thimerosal	decreases expression	1
Valproic Acid	decreases expression	1
Cyclosporine	increases expression	1
Aflatoxin B1	decreases methylation	1
Antirheumatic Agents	increases expression	1
Okadaic Acid	increases expression	1

Clinical trials (associated diseases)

217 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
NCT02125721	PHASE4	COMPLETED	Effect of Increasing Doses of Cystine Binding Thiol Drugs on Cystine Capacity in Patients With Cystinuria
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
NCT02910531	PHASE2	COMPLETED	Lipoic Acid Supplement for Cystine Stone
NCT02942420	PHASE2	UNKNOWN	Bucillamine Phase 2 Trial in Patients With Cystinuria
NCT03663855	PHASE2	COMPLETED	Effect of Increasing Doses of Tiopronin on Cystine Capacity in Patients With Cystinuria
NCT04818034	PHASE2	COMPLETED	The Effect of Sodium-glucose Cotransporter (SGLT) 2 Inhibitors on Cystine Stone Formation: A Preliminary Study
NCT05058859	PHASE2	WITHDRAWN	Long Term Clinical Efficacy of Sodium-glucose Cotransporter-2 (SGLT-2) Inhibitor in Cystinurics
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