CEP97

Summary

CEP97 (centrosomal protein 97, HGNC:26244) is a protein-coding gene on chromosome 3q12.3, encoding Centrosomal protein of 97 kDa (Q8IW35). Acts as a key negative regulator of ciliogenesis in collaboration with CCP110 by capping the mother centriole thereby preventing cilia formation. It is a selective cancer dependency (DepMap: 22.0% of cell lines).

Predicted to enable U2 snRNA binding activity and calmodulin binding activity. Involved in negative regulation of cilium assembly and regulation of mitotic spindle assembly. Located in centriole and centrosome. Part of protein-containing complex.

Source: NCBI Gene 79598 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 364 total — 1 pathogenic, 1 likely-pathogenic
• Cancer dependency (DepMap): dependent in 22.0% of screened cell lines
• MANE Select transcript: NM_024548

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26244
Approved symbol	CEP97
Name	centrosomal protein 97
Location	3q12.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ23047
Ensembl gene	ENSG00000182504
Ensembl biotype	protein_coding
OMIM	615864
Entrez	79598

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 9 protein_coding, 4 retained_intron, 3 nonsense_mediated_decay

ENST00000341893, ENST00000465011, ENST00000467655, ENST00000489172, ENST00000494050, ENST00000704365, ENST00000704366, ENST00000704367, ENST00000704368, ENST00000704369, ENST00000704370, ENST00000704371, ENST00000704372, ENST00000704444, ENST00000704445, ENST00000704446

RefSeq mRNA: 4 — MANE Select: NM_024548 NM_001303401, NM_001410784, NM_001410785, NM_024548

CCDS: CCDS2944, CCDS77780, CCDS93335, CCDS93336

Canonical transcript exons

ENST00000341893 — 11 exons

Exon	Start	End
ENSE00001820058	101757063	101757196
ENSE00001836345	101727383	101727541
ENSE00001858785	101724614	101724719
ENSE00001917419	101764847	101770562
ENSE00003472315	101757634	101758423
ENSE00003521889	101731840	101731953
ENSE00003533861	101755430	101755594
ENSE00003565744	101762485	101762560
ENSE00003662984	101732488	101732654
ENSE00003991525	101726594	101726736
ENSE00003991530	101728836	101728937

Expression profiles

Bgee: expression breadth ubiquitous, 249 present calls, max score 93.01.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.0076 / max 331.8308, expressed in 1677 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
37650	6.9844	1576
37651	2.9871	1107
37649	0.7943	470
37652	0.2418	90

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
corpus callosum	UBERON:0002336	93.01	gold quality
endothelial cell	CL:0000115	90.65	gold quality
mucosa of paranasal sinus	UBERON:0005030	90.53	gold quality
inferior vagus X ganglion	UBERON:0005363	88.19	gold quality
oocyte	CL:0000023	87.88	gold quality
medial globus pallidus	UBERON:0002477	87.03	gold quality
secondary oocyte	CL:0000655	87.01	gold quality
globus pallidus	UBERON:0001875	86.40	gold quality
superior vestibular nucleus	UBERON:0007227	85.94	gold quality
subthalamic nucleus	UBERON:0001906	85.32	gold quality
ventricular zone	UBERON:0003053	85.31	gold quality
ganglionic eminence	UBERON:0004023	84.99	gold quality
epithelium of nasopharynx	UBERON:0001951	84.56	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.50	gold quality
ventral tegmental area	UBERON:0002691	82.68	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	82.37	gold quality
pons	UBERON:0000988	82.28	gold quality
adrenal tissue	UBERON:0018303	81.98	gold quality
dorsal plus ventral thalamus	UBERON:0001897	81.72	gold quality
calcaneal tendon	UBERON:0003701	81.50	gold quality
cortical plate	UBERON:0005343	81.04	gold quality
bronchial epithelial cell	CL:0002328	80.86	gold quality
occipital lobe	UBERON:0002021	80.75	gold quality
primary visual cortex	UBERON:0002436	80.26	gold quality
medulla oblongata	UBERON:0001896	79.71	gold quality
lateral globus pallidus	UBERON:0002476	79.66	gold quality
dorsal root ganglion	UBERON:0000044	79.34	gold quality
trigeminal ganglion	UBERON:0001675	78.27	gold quality
Brodmann (1909) area 23	UBERON:0013554	78.21	gold quality
colonic epithelium	UBERON:0000397	77.63	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.83

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

262 targeting CEP97, 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-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4534	99.99	66.58	1907

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 22.0% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 1)

• identified the cullin-3-RBX1-KCTD10 complex as the E3 ligase that mediates CEP97 degradation and removal from the mother centriole (PMID:30404837)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	cep97	ENSDARG00000102407
mus_musculus	Cep97	ENSMUSG00000022604
rattus_norvegicus	Cep97	ENSRNOG00000001609
drosophila_melanogaster	Cep97	FBGN0031575
caenorhabditis_elegans		WBGENE00020266

Paralogs (13): LRRC23 (ENSG00000010626), LRRC61 (ENSG00000127399), DNAAF11 (ENSG00000129295), LRRC9 (ENSG00000131951), LRRCC1 (ENSG00000133739), LRRC49 (ENSG00000137821), LRRC46 (ENSG00000141294), DNAAF1 (ENSG00000154099), LRGUK (ENSG00000155530), LRRC43 (ENSG00000158113), LRRIQ3 (ENSG00000162620), DRC3 (ENSG00000171962), PPP1R42 (ENSG00000178125)

Protein

Protein identifiers

Centrosomal protein of 97 kDa — Q8IW35 (reviewed: Q8IW35)

Alternative names: Leucine-rich repeat and IQ domain-containing protein 2

All UniProt accessions (11): Q8IW35, A0A994J4D7, A0A994J4L0, A0A994J4M7, A0A994J522, A0A994J704, A0A994J715, A0A994J7E5, E9PG22, F8WF91, H7C4Y5

UniProt curated annotations — full annotation on UniProt →

Function. Acts as a key negative regulator of ciliogenesis in collaboration with CCP110 by capping the mother centriole thereby preventing cilia formation. Required for recruitment of CCP110 to the centrosome.

Subunit / interactions. Interacts with CALM1, CEP76, KIF24 and TALPID3. Interacts with CCP110. ENKD1 competes with CEP97 for binding to CCP110, destabilizing the interaction between CP110 and CEP97 which promotes the removal of CCP110 and CEP97 from the mother centriole and allows the initiation of ciliogenesis. Via its interaction with CCP110, may indirectly interact with HERC2 and NEURL4. Interacts with MPHOSPH9.

Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Centriole.

Miscellaneous. Sequence incomplete.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8IW35-1	1	yes
Q8IW35-2	2

RefSeq proteins (4): NP_001290330, NP_001397713, NP_001397714, NP_078824* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001611	Leu-rich_rpt	Repeat
IPR032675	LRR_dom_sf	Homologous_superfamily
IPR050576	Cilia_flagella_integrity	Family

Pfam: PF14580

UniProt features (28 total): repeat 8, modified residue 6, region of interest 4, compositionally biased region 3, sequence conflict 3, domain 2, chain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IW35-F1	58.89	0.23

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 (6): 308, 413, 500, 530, 542, 763

Function

Pathways and Gene Ontology

Reactome pathways

8 pathways

ID	Pathway
R-HSA-5620912	Anchoring of the basal body to the plasma membrane
R-HSA-9013424	RHOV GTPase cycle
R-HSA-162582	Signal Transduction
R-HSA-1852241	Organelle biogenesis and maintenance
R-HSA-194315	Signaling by Rho GTPases
R-HSA-5617833	Cilium Assembly
R-HSA-9012999	RHO GTPase cycle
R-HSA-9716542	Signaling by Rho GTPases, Miro GTPases and RHOBTB3

MSigDB gene sets: 238 (showing top): GOBP_CHROMOSOME_ORGANIZATION, RRAGTTGT_UNKNOWN, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, GAANYNYGACNY_UNKNOWN, TGCACTT_MIR519C_MIR519B_MIR519A, CMYB_01, TGACCTY_ERR1_Q2, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_NEGATIVE_REGULATION_OF_ORGANELLE_ASSEMBLY, PATIL_LIVER_CANCER, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_MITOTIC_SPINDLE_ASSEMBLY, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, GOBP_ORGANELLE_FISSION

GO Biological Process (4): cell projection organization (GO:0030030), regulation of mitotic spindle assembly (GO:1901673), negative regulation of cilium assembly (GO:1902018), mRNA splicing, via spliceosome (GO:0000398)

GO Molecular Function (3): calmodulin binding (GO:0005516), protein binding (GO:0005515), U2 snRNA binding (GO:0030620)

GO Cellular Component (7): centrosome (GO:0005813), centriole (GO:0005814), cytosol (GO:0005829), protein-containing complex (GO:0032991), nucleus (GO:0005634), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)

Reactome top-level categories

Rollup of top-6 pathways:

Category	Pathways
Assembly of the 9+0 primary cilium	1
RHO GTPase cycle	1
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	1
Organelle biogenesis and maintenance	1
Signaling by Rho GTPases	1
Signal Transduction	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
microtubule organizing center	2
intracellular membraneless organelle	2
cellular anatomical structure	2
cellular component organization	1
regulation of mitotic spindle organization	1
regulation of spindle assembly	1
mitotic spindle assembly	1
cilium assembly	1
negative regulation of plasma membrane bounded cell projection assembly	1
regulation of cilium assembly	1
negative regulation of organelle assembly	1
RNA splicing, via transesterification reactions with bulged adenosine as nucleophile	1
mRNA processing	1
protein binding	1
binding	1
snRNA binding	1
centriole	1
cytoplasm	1
cellular_component	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1616 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CEP97	CCP110	O43303	996
CEP97	KIF24	Q5T7B8	861
CEP97	CEP104	O60308	808
CEP97	CEP290	O15078	762
CEP97	CEP164	Q9UPV0	750
CEP97	CEP83	Q9Y592	681
CEP97	TTBK2	Q6IQ55	677
CEP97	CEP350	Q5VT06	652
CEP97	KCTD10	Q9H3F6	645
CEP97	NEURL4	Q96JN8	641
CEP97	CEP89	Q96ST8	606
CEP97	SCLT1	Q96NL6	575
CEP97	KIAA0586	Q9BVV6	570
CEP97	CEP192	Q8TEP8	568
CEP97	OFD1	O75665	564

IntAct

162 interactions, top by confidence:

A	B	Type	Score
CEP97	CCP110	psi-mi:“MI:2364”(proximity)	0.950
CEP97	CCP110	psi-mi:“MI:0914”(association)	0.950
CCP110	CEP97	psi-mi:“MI:0915”(physical association)	0.950
CEP97	CCP110	psi-mi:“MI:0407”(direct interaction)	0.950
CEP97	CCP110	psi-mi:“MI:0915”(physical association)	0.950
CCP110	CALM1	psi-mi:“MI:0914”(association)	0.900
CEP290	CCP110	psi-mi:“MI:2364”(proximity)	0.890
CCP110	CEP290	psi-mi:“MI:0914”(association)	0.890
CEP290	CCP110	psi-mi:“MI:0914”(association)	0.890
KIF24	CCP110	psi-mi:“MI:0914”(association)	0.810
KIF24	CEP97	psi-mi:“MI:0915”(physical association)	0.810
CCP110	KIF24	psi-mi:“MI:0914”(association)	0.810

BioGRID (226): CEP97 (Affinity Capture-MS), CEP97 (Affinity Capture-MS), CEP97 (Affinity Capture-MS), CEP97 (Proximity Label-MS), CEP97 (Affinity Capture-Western), CEP97 (Affinity Capture-MS), CEP97 (Affinity Capture-MS), CEP97 (Proximity Label-MS), CEP97 (Proximity Label-MS), ALMS1 (Proximity Label-MS), CALM2 (Proximity Label-MS), CCP110 (Proximity Label-MS), CEP104 (Proximity Label-MS), CLTC (Proximity Label-MS), HAUS8 (Proximity Label-MS)

ESM2 similar proteins: A0A5K7RLP0, A1YEX3, A7YWH3, B1WBU4, O15151, O35618, O43298, O88850, P24278, P97303, Q01954, Q0V8G8, Q15916, Q17RG1, Q562E2, Q5RC05, Q5RDQ6, Q5SXH7, Q5TC79, Q5VYS8, Q5W0Q7, Q5XIN1, Q6ZPY5, Q6ZSB9, Q6ZU67, Q7ZUW7, Q7ZYI3, Q8BLK9, Q8BSV3, Q8IW35, Q8K088, Q8N680, Q8N7W2, Q8TCN5, Q8VHI4, Q8WW38, Q90W33, Q96BR9, Q96S38, Q99ME3

Diamond homologs: Q6GPJ8, Q8IW35, Q9CZ62

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
KCTD10	“down-regulates quantity by destabilization”	CEP97	binding
“Cullin 3-RBX1-Skp1”	“down-regulates quantity by destabilization”	CEP97	polyubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 149 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
Loss of Nlp from mitotic centrosomes	18	31.4×	2e-20
Loss of proteins required for interphase microtubule organization from the centrosome	18	31.4×	2e-20
AURKA Activation by TPX2	18	30.1×	3e-20
Anchoring of the basal body to the plasma membrane	22	27.3×	2e-23
Recruitment of mitotic centrosome proteins and complexes	18	26.9×	2e-19
Regulation of PLK1 Activity at G2/M Transition	18	25.1×	7e-19
Centrosome maturation	9	25.1×	4e-09
Recruitment of NuMA to mitotic centrosomes	19	24.3×	1e-19

GO biological processes:

GO term	Partners	Fold	FDR
regulation of cytokinesis	5	16.5×	3e-03
non-motile cilium assembly	6	13.6×	2e-03
cytoplasmic microtubule organization	5	13.4×	4e-03
centrosome cycle	5	13.2×	4e-03
G2/M transition of mitotic cell cycle	5	12.2×	4e-03
smoothened signaling pathway	6	8.5×	5e-03
mitotic cell cycle	7	7.3×	4e-03
cilium assembly	12	6.9×	2e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	1
Uncertain significance	238
Likely benign	98
Benign	12

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
1423156	NC_000003.11:g.(?100945813)(101484395_?)del	Pathogenic
402141	NM_024548.4(CEP97):c.1148A>G (p.His383Arg)	Likely pathogenic

SpliceAI

1605 predictions. Top by Δscore:

Variant	Effect	Δscore
3:101726588:TTCAA:T	acceptor_loss	1.0000
3:101726589:TCAA:T	acceptor_loss	1.0000
3:101726590:CAA:C	acceptor_loss	1.0000
3:101726591:A:AG	acceptor_gain	1.0000
3:101726591:AAG:A	acceptor_gain	1.0000
3:101726592:A:AG	acceptor_gain	1.0000
3:101726593:G:GC	acceptor_gain	1.0000
3:101726734:CAGG:C	donor_loss	1.0000
3:101726737:G:GA	donor_loss	1.0000
3:101726737:G:GG	donor_gain	1.0000
3:101727377:TTACA:T	acceptor_gain	1.0000
3:101727378:TACA:T	acceptor_gain	1.0000
3:101727379:A:AG	acceptor_gain	1.0000
3:101727379:ACAG:A	acceptor_gain	1.0000
3:101727380:C:G	acceptor_gain	1.0000
3:101727380:CA:C	acceptor_loss	1.0000
3:101727380:CAG:C	acceptor_gain	1.0000
3:101727381:A:AG	acceptor_gain	1.0000
3:101727382:G:GT	acceptor_gain	1.0000
3:101727382:GT:G	acceptor_gain	1.0000
3:101727382:GTT:G	acceptor_gain	1.0000
3:101727382:GTTA:G	acceptor_gain	1.0000
3:101727382:GTTAT:G	acceptor_gain	1.0000
3:101727528:G:GT	donor_gain	1.0000
3:101727529:A:T	donor_gain	1.0000
3:101727537:TTAAG:T	donor_loss	1.0000
3:101727538:TAAGG:T	donor_loss	1.0000
3:101727539:AAGG:A	donor_loss	1.0000
3:101727540:AGGT:A	donor_loss	1.0000
3:101727541:GGTG:G	donor_loss	1.0000

AlphaMissense

5694 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:101727466:T:A	N90K	0.999
3:101727466:T:G	N90K	0.999
3:101727516:T:C	L107P	0.999
3:101727532:T:A	N112K	0.999
3:101727532:T:G	N112K	0.999
3:101728876:T:C	L129P	0.999
3:101728892:T:A	N134K	0.999
3:101728892:T:G	N134K	0.999
3:101731844:T:C	L151P	0.999
3:101731860:C:A	N156K	0.999
3:101731860:C:G	N156K	0.999
3:101755443:T:A	W248R	0.999
3:101755443:T:C	W248R	0.999
3:101755447:T:C	L249P	0.999
3:101726678:T:C	L43P	0.998
3:101727384:T:C	L63S	0.998
3:101727400:T:A	N68K	0.998
3:101727400:T:G	N68K	0.998
3:101727450:T:C	L85S	0.998
3:101731932:T:A	N180K	0.998
3:101731932:T:G	N180K	0.998
3:101755437:G:C	A246P	0.998
3:101755445:G:C	W248C	0.998
3:101755445:G:T	W248C	0.998
3:101755510:T:C	L270P	0.998
3:101726688:T:A	N46K	0.997
3:101726688:T:G	N46K	0.997
3:101727386:T:C	S64P	0.997
3:101727456:T:C	L87S	0.997
3:101727464:A:T	N90Y	0.997

dbSNP variants (sampled 300 via entrez): RS1000002030 (3:101748255 G>A), RS1000127307 (3:101754595 C>G,T), RS1000145083 (3:101754377 A>ATT), RS1000169091 (3:101761330 A>G), RS1000217079 (3:101725109 T>G), RS1000259674 (3:101741499 A>C), RS1000265113 (3:101761038 T>G), RS1000304915 (3:101722773 T>C), RS1000373542 (3:101731384 A>G), RS1000465692 (3:101767957 A>G), RS1000646427 (3:101729017 C>A,G), RS1000651076 (3:101738018 A>G), RS1000706055 (3:101744635 G>A), RS1000724027 (3:101725446 A>G), RS1000724971 (3:101736234 A>G)

Disease associations

OMIM: gene MIM:615864 | 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

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

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression	2
triphenyl phosphate	affects expression	1
bisphenol A	decreases methylation	1
arsenite	affects binding, decreases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	increases expression	1
zinc chromate	increases expression, increases abundance	1
di-n-butylphosphoric acid	affects expression	1
chromium hexavalent ion	increases abundance, increases expression	1
2-palmitoylglycerol	increases expression	1
bisphenol S	decreases methylation	1
jinfukang	decreases expression	1
Sunitinib	decreases expression	1
Acetaminophen	increases expression	1
Doxorubicin	decreases expression	1
Ivermectin	decreases expression	1
Methyl Methanesulfonate	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	decreases expression	1
Urethane	increases expression	1
Vitamin E	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