OTUD7A

Summary

OTUD7A (OTU deubiquitinase 7A, HGNC:20718) is a protein-coding gene on chromosome 15q13.3, encoding OTU domain-containing protein 7A (Q8TE49). Deubiquitinase, which cleaves ‘Lys-11’-linked polyubiquitin chains.

The protein encoded by this gene is a deubiquitinizing enzyme and possible tumor suppressor. The encoded protein acts on TNF receptor associated factor 6 (TRAF6) to control nuclear factor kappa B expression. However, this gene is downregulated by SNAIL1 in hepatocellular carcinoma cells, contributing to their progression and malignancy.

Source: NCBI Gene 161725 — RefSeq curated summary.

At a glance

• Gene–disease (curated): neurodevelopmental disorder with hypotonia and seizures (Moderate, GenCC) — +1 more curated relationship
• GWAS associations: 3
• Clinical variants (ClinVar): 188 total — 3 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 20
• Dosage sensitivity (ClinGen): haploinsufficiency no evidence, triplosensitivity no evidence
• MANE Select transcript: NM_001382637

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20718
Approved symbol	OTUD7A
Name	OTU deubiquitinase 7A
Location	15q13.3
Locus type	gene with protein product
Status	Approved
Aliases	CEZANNE2
Ensembl gene	ENSG00000169918
Ensembl biotype	protein_coding
OMIM	612024
Entrez	161725

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 5 protein_coding, 1 retained_intron, 1 nonsense_mediated_decay

ENST00000307050, ENST00000558371, ENST00000560536, ENST00000560598, ENST00000678495, ENST00000926297, ENST00000926298

RefSeq mRNA: 3 — MANE Select: NM_001382637 NM_001329907, NM_001382637, NM_130901

CCDS: CCDS10026, CCDS91972

Canonical transcript exons

ENST00000307050 — 13 exons

Exon	Start	End
ENSE00001144337	31487194	31487278
ENSE00001144347	31487452	31487566
ENSE00001144357	31501690	31501839
ENSE00001144368	31503691	31503818
ENSE00001144395	31530707	31530808
ENSE00001315415	31475398	31484724
ENSE00001777286	31527181	31527308
ENSE00002541730	31656983	31657077
ENSE00003477088	31655096	31655250
ENSE00003557293	31558969	31559187
ENSE00003784235	31570018	31570197
ENSE00003905145	31526349	31526461
ENSE00003906619	31870507	31870673

Expression profiles

Bgee: expression breadth ubiquitous, 178 present calls, max score 93.81.

FANTOM5 (CAGE): breadth broad, TPM avg 1.2180 / max 62.0325, expressed in 295 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
149145	0.7602	247
149144	0.3849	94
149146	0.0729	27

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
endothelial cell	CL:0000115	93.81	gold quality
Brodmann (1909) area 23	UBERON:0013554	91.29	gold quality
middle temporal gyrus	UBERON:0002771	88.21	gold quality
postcentral gyrus	UBERON:0002581	86.51	gold quality
superior frontal gyrus	UBERON:0002661	86.11	gold quality
entorhinal cortex	UBERON:0002728	85.62	gold quality
primary visual cortex	UBERON:0002436	85.39	gold quality
parietal lobe	UBERON:0001872	84.91	gold quality
Brodmann (1909) area 46	UBERON:0006483	84.62	gold quality
occipital lobe	UBERON:0002021	83.44	gold quality
corpus callosum	UBERON:0002336	80.53	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	80.30	gold quality
medial globus pallidus	UBERON:0002477	80.28	gold quality
prefrontal cortex	UBERON:0000451	80.03	gold quality
frontal cortex	UBERON:0001870	79.52	gold quality
cerebellum	UBERON:0002037	78.99	gold quality
cerebellar cortex	UBERON:0002129	78.65	gold quality
cerebellar hemisphere	UBERON:0002245	78.64	gold quality
cerebellar vermis	UBERON:0004720	78.56	gold quality
right hemisphere of cerebellum	UBERON:0014890	78.55	gold quality
neocortex	UBERON:0001950	78.48	gold quality
cerebral cortex	UBERON:0000956	78.27	gold quality
Ammon’s horn	UBERON:0001954	78.16	gold quality
temporal lobe	UBERON:0001871	78.10	gold quality
globus pallidus	UBERON:0001875	77.92	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	77.17	gold quality
Brodmann (1909) area 9	UBERON:0013540	76.86	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	76.09	gold quality
right frontal lobe	UBERON:0002810	75.97	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	75.90	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.43

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): SNAI1

miRNA regulators (miRDB)

16 targeting OTUD7A, 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-4692	100.00	67.32	2066
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-767-5P	99.95	70.85	993
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-6715B-5P	99.64	69.63	1420
HSA-MIR-9851-3P	99.63	69.68	1110
HSA-MIR-4269	99.55	69.89	1373
HSA-MIR-593-5P	99.34	69.50	965
HSA-MIR-4685-5P	99.25	65.99	1563
HSA-MIR-6837-5P	99.25	65.47	1632
HSA-MIR-4742-5P	98.89	68.41	1542
HSA-MIR-4253	97.48	65.11	692
HSA-MIR-6862-5P	97.48	64.84	713
HSA-MIR-3914	94.91	65.77	643

Functional genomics

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

Literature-anchored findings (GeneRIF, showing 6)

• Snail1-mediated suppression of Cezanne2 may have a key role in HCC malignancy. (PMID:23792447)
• OTUD7A is a major regulatory gene for 15q13.3 microdeletion syndrome phenotypes. (PMID:29395074)
• Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction. (PMID:31997314)
• Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizures. (PMID:33381903)
• CircRNA_OTUD7A upregulates FOXP1 expression to facilitate the progression of diffuse large B-cell lymphoma via acting as a sponge of miR-431-5p. (PMID:33830472)
• SPOP and OTUD7A Control EWS-FLI1 Protein Stability to Govern Ewing Sarcoma Growth. (PMID:34060252)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	otud7a	ENSDARG00000045556
mus_musculus	Otud7a	ENSMUSG00000033510
rattus_norvegicus	Otud7a	ENSRNOG00000015503

Paralogs (2): TNFAIP3 (ENSG00000118503), OTUD7B (ENSG00000264522)

Protein

Protein identifiers

OTU domain-containing protein 7A — Q8TE49 (reviewed: Q8TE49)

Alternative names: Zinc finger protein Cezanne 2

All UniProt accessions (3): Q8TE49, H0YMI7, H0YN66

UniProt curated annotations — full annotation on UniProt →

Function. Deubiquitinase, which cleaves ‘Lys-11’-linked polyubiquitin chains. Might be required for PA28-20S proteasome assembly.

Subcellular location. Cytoplasm. Nucleus.

Disease relevance. Neurodevelopmental disorder with hypotonia and seizures (NEDHS) [MIM:620790] An autosomal recessive, severe disorder characterized by global developmental delay, language impairment, impaired intellectual development, hypotonia, and early-onset seizures. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the peptidase C64 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8TE49-1	1	yes
Q8TE49-2	2

RefSeq proteins (3): NP_001316836, NP_001369566, NP_570971 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002653	Znf_A20	Domain
IPR003323	OTU_dom	Domain
IPR051346	OTU_Deubiquitinase	Family

Pfam: PF01754, PF02338

UniProt features (34 total): compositionally biased region 6, region of interest 6, binding site 4, active site 3, strand 3, helix 3, modified residue 2, chain 1, domain 1, zinc finger region 1, splice variant 1, sequence variant 1, turn 1, short sequence motif 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2L2D	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8TE49-F1	66.37	0.36

Functional residue map

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

Catalytic / active sites (3): 207; 210 (nucleophile); 367 (proton acceptor)

Ligand- & substrate-binding residues (4): 890; 895; 907; 910

Post-translational modifications (2): 119, 880

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-5689896	Ovarian tumor domain proteases

MSigDB gene sets: 115 (showing top): chr15q13, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_REMOVAL, CAGCTG_AP4_Q5, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM5, GOMF_CYSTEINE_TYPE_PEPTIDASE_ACTIVITY, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, HAMAI_APOPTOSIS_VIA_TRAIL_DN, GOBP_PROTEIN_CATABOLIC_PROCESS, GOBP_PROTEOLYSIS, GOMF_PEPTIDASE_ACTIVITY, GOMF_UBIQUITIN_LIKE_PROTEIN_PEPTIDASE_ACTIVITY, MEISSNER_NPC_HCP_WITH_H3K4ME2, REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, MIKKELSEN_MEF_HCP_WITH_H3K27ME3

GO Biological Process (4): protein deubiquitination (GO:0016579), protein K11-linked deubiquitination (GO:0035871), protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947), proteolysis (GO:0006508)

GO Molecular Function (9): DNA binding (GO:0003677), cysteine-type deubiquitinase activity (GO:0004843), zinc ion binding (GO:0008270), K63-linked polyubiquitin modification-dependent protein binding (GO:0070530), protein binding (GO:0005515), peptidase activity (GO:0008233), cysteine-type peptidase activity (GO:0008234), hydrolase activity (GO:0016787), metal ion binding (GO:0046872)

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

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Deubiquitination	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein deubiquitination	2
cellular anatomical structure	2
cysteine-type deubiquitinase activity	1
protein modification by small protein removal	1
ubiquitin-dependent protein catabolic process	1
protein metabolic process	1
nucleic acid binding	1
cysteine-type peptidase activity	1
deubiquitinase activity	1
transition metal ion binding	1
polyubiquitin modification-dependent protein binding	1
binding	1
hydrolase activity	1
catalytic activity, acting on a protein	1
peptidase activity	1
catalytic activity	1
cation binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cytoplasm	1

Protein interactions and networks

STRING

1053 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OTUD7A	CHRFAM7A	Q494W8	962
OTUD7A	ZUP1	Q96AP4	843
OTUD7A	MTMR10	Q9NXD2	807
OTUD7A	ZNF629	Q9UEG4	740
OTUD7A	ZNF501	Q96CX3	740
OTUD7A	K7ESF6	K7ESF6	739
OTUD7A	ZNF44	P15621	739
OTUD7A	ZNF569	Q5MCW4	739
OTUD7A	ZNF436	Q9C0F3	739
OTUD7A	OTUD3	Q5T2D3	652
OTUD7A	TRPM1	Q7Z4N2	651
OTUD7A	KLF13	Q9Y2Y9	647
OTUD7A	OTUD6B	Q8N6M0	630
OTUD7A	OTUD6A	Q7L8S5	629
OTUD7A	ARHGAP11B	Q3KRB8	628

IntAct

24 interactions, top by confidence:

A	B	Type	Score
YWHAG	SHTN1	psi-mi:“MI:0914”(association)	0.560
OTUD7A	SMAD4	psi-mi:“MI:0915”(physical association)	0.550
SMAD4	OTUD7A	psi-mi:“MI:2364”(proximity)	0.550
PB2		psi-mi:“MI:0914”(association)	0.350
YWHAH	SHTN1	psi-mi:“MI:0914”(association)	0.350
YWHAQ	SHTN1	psi-mi:“MI:0914”(association)	0.350
OTUD7A	OTUD7B	psi-mi:“MI:0914”(association)	0.350
OTUD7A	FBXW7	psi-mi:“MI:2364”(proximity)	0.270
FBXW7	OTUD7A	psi-mi:“MI:2364”(proximity)	0.270
SPOP	OTUD7A	psi-mi:“MI:2364”(proximity)	0.270
OTUD7A	SPOP	psi-mi:“MI:2364”(proximity)	0.270
OTUD7A	TP53	psi-mi:“MI:2364”(proximity)	0.270
OTUD7A	PTEN	psi-mi:“MI:2364”(proximity)	0.270
OTUD7A	EGFR	psi-mi:“MI:2364”(proximity)	0.270
OTUD7A	AKT1	psi-mi:“MI:2364”(proximity)	0.270
OTUD7A	BRAF	psi-mi:“MI:2364”(proximity)	0.270
VHL	OTUD7A	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (21): OTUD7A (Reconstituted Complex), OTUD7A (Affinity Capture-RNA), OTUD7A (Affinity Capture-RNA), OTUD7A (Affinity Capture-MS), OTUD7A (Reconstituted Complex), UBC (Reconstituted Complex), OTUD7A (Affinity Capture-Western), OTUD5 (Affinity Capture-MS), OTUD7B (Affinity Capture-MS), AURKA (Affinity Capture-Western), OTUD7A (Affinity Capture-Western), OTUD7A (Affinity Capture-MS), OTUD7A (Affinity Capture-MS), OTUD7A (Affinity Capture-MS), ANK3 (Affinity Capture-Western)

ESM2 similar proteins: A0FI79, A1A4I4, A1A5B6, A4D2P6, A6H7I8, F1LXF1, O60346, P11274, P53349, P59672, P70268, Q0QWG9, Q13905, Q3MII6, Q3U0J8, Q504T8, Q50H33, Q5EBH1, Q62865, Q63433, Q69ZT9, Q6NS60, Q6PAJ1, Q6WVG3, Q6ZWB6, Q7Z5H3, Q8BL80, Q8BUP8, Q8BYH7, Q8C190, Q8CGA2, Q8CHE4, Q8N2R8, Q8R554, Q8TE49, Q8TF61, Q8WUA7, Q92625, Q95KI1, Q96CX2

Diamond homologs: A0JMQ9, A6QP16, B1H2Q2, B2RUR8, P21580, Q4R8W3, Q5U595, Q60769, Q6GQQ9, Q6NUB7, Q7M760, Q8R554, Q8TE49, Q9UGI0, Q9VH90

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
OTUD7A	“down-regulates activity”	RIPK1	deubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 15 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
TP53 Regulates Metabolic Genes	6	55.6×	2e-07
SARS-CoV Infections	5	19.8×	6e-05
Viral Infection Pathways	5	11.0×	7e-04
Infectious disease	5	8.9×	2e-03

GO biological processes:

GO term	Partners	Fold	FDR
negative regulation of apoptotic process	5	12.4×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	1
Uncertain significance	157
Likely benign	12
Benign	11

Top pathogenic / likely-pathogenic (4)

Variant ID	HGVS	Classification
1012383	GRCh37/hg19 15q13.3(chr15:31779397-31947455)x3	Pathogenic
3233312	NM_001382637.1(OTUD7A):c.1146del (p.Glu382fs)	Pathogenic
983496	NM_001382637.1(OTUD7A):c.697C>T (p.Leu233Phe)	Pathogenic
2692529	NM_001382637.1(OTUD7A):c.893+1del	Likely pathogenic

SpliceAI

2525 predictions. Top by Δscore:

Variant	Effect	Δscore
15:31487274:TAAGG:T	acceptor_gain	1.0000
15:31487275:AAGG:A	acceptor_gain	1.0000
15:31487276:AGG:A	acceptor_gain	1.0000
15:31487277:GG:G	acceptor_gain	1.0000
15:31487277:GGCTG:G	acceptor_loss	1.0000
15:31487278:GCTGG:G	acceptor_loss	1.0000
15:31487279:C:CC	acceptor_gain	1.0000
15:31487450:A:AC	donor_gain	1.0000
15:31487451:C:CC	donor_gain	1.0000
15:31487451:CTGGG:C	donor_gain	1.0000
15:31501838:CG:C	acceptor_gain	1.0000
15:31503687:TTAC:T	donor_loss	1.0000
15:31503688:TAC:T	donor_loss	1.0000
15:31503689:A:AC	donor_gain	1.0000
15:31503690:C:A	donor_loss	1.0000
15:31503690:C:CC	donor_gain	1.0000
15:31503814:CCACA:C	acceptor_gain	1.0000
15:31503815:CACA:C	acceptor_gain	1.0000
15:31503815:CACAC:C	acceptor_gain	1.0000
15:31503816:ACA:A	acceptor_gain	1.0000
15:31503817:CA:C	acceptor_gain	1.0000
15:31503817:CAC:C	acceptor_gain	1.0000
15:31503818:AC:A	acceptor_loss	1.0000
15:31503819:C:CA	acceptor_loss	1.0000
15:31503819:C:CC	acceptor_gain	1.0000
15:31503820:T:C	acceptor_loss	1.0000
15:31503821:G:C	acceptor_gain	1.0000
15:31527316:C:CT	acceptor_gain	1.0000
15:31527317:A:T	acceptor_gain	1.0000
15:31527324:C:CT	acceptor_gain	1.0000

AlphaMissense

6015 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:31483354:G:C	C907W	1.000
15:31483356:A:G	C907R	1.000
15:31484102:A:G	L658P	1.000
15:31484106:A:C	Y657D	1.000
15:31484212:G:C	S621R	1.000
15:31484212:G:T	S621R	1.000
15:31484214:T:G	S621R	1.000
15:31487252:A:G	L431P	1.000
15:31501728:A:G	L371P	1.000
15:31501728:A:T	L371H	1.000
15:31501731:G:T	A370D	1.000
15:31501736:G:C	F368L	1.000
15:31501736:G:T	F368L	1.000
15:31501737:A:G	F368S	1.000
15:31501738:A:G	F368L	1.000
15:31501739:A:C	H367Q	1.000
15:31501739:A:T	H367Q	1.000
15:31501741:G:C	H367D	1.000
15:31501749:T:A	D364V	1.000
15:31501753:A:C	Y363D	1.000
15:31501753:A:G	Y363H	1.000
15:31501758:A:G	L361P	1.000
15:31501761:A:T	V360D	1.000
15:31501803:G:C	P346R	1.000
15:31501803:G:T	P346H	1.000
15:31503711:A:G	L327S	1.000
15:31503729:A:T	V321D	1.000
15:31503759:A:G	L311P	1.000
15:31503768:A:T	V308D	1.000
15:31503783:A:G	L303P	1.000

dbSNP variants (sampled 300 via entrez): RS1000027825 (15:31809654 C>T), RS1000030178 (15:31815583 G>A), RS1000030610 (15:31855998 C>G), RS1000034990 (15:31843199 C>T), RS1000035468 (15:31760227 C>T), RS1000040751 (15:31498167 G>A), RS1000042641 (15:31801853 A>G,T), RS1000059165 (15:31520138 C>T), RS1000063638 (15:31732027 C>T), RS1000080045 (15:31495958 C>T), RS1000081974 (15:31476400 C>A,G,T), RS1000084514 (15:31646385 G>A), RS1000094635 (15:31811244 G>A), RS1000113612 (15:31684601 T>C), RS1000118904 (15:31601970 C>A)

Disease associations

OMIM: gene MIM:612024 | disease phenotypes: MIM:620790

GenCC curated gene-disease

Disease	Classification	Inheritance
neurodevelopmental disorder with hypotonia and seizures	Moderate	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
complex neurodevelopmental disorder	Limited	AR

Mondo (5): non-syndromic intellectual disability (MONDO:0000509), neurodevelopmental disorder (MONDO:0700092), neurodevelopmental disorder with hypotonia and seizures (MONDO:0968979), language disorder (MONDO:0004750), specific learning disability (MONDO:0016225)

Orphanet (1): Specific learning disability (Orphanet:211047)

HPO phenotypes

20 total (21 of 20 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000400	Macrotia
HP:0000494	Downslanted palpebral fissures
HP:0000750	Delayed speech and language development
HP:0001252	Hypotonia
HP:0001263	Global developmental delay
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
HP:0002521	Hypsarrhythmia
HP:0002540	Inability to walk
HP:0002650	Scoliosis
HP:0003593	Infantile onset
HP:0003623	Neonatal onset
HP:0007270	Atypical absence seizure
HP:0010804	Tented upper lip vermilion
HP:0012469	Infantile spasms
HP:0012704	Widened subarachnoid space
HP:0025336	Delayed ability to sit
HP:0031936	Delayed ability to walk
HP:0032724	Focal impaired awareness tonic seizure
HP:0033725	Thin corpus callosum
HP:0002463	Language impairment

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST000661_7	Mortality in heart failure	1.000000e-06
GCST002012_7	Venous thromboembolism	3.000000e-06
GCST003231_1	Survival in colorectal cancer (non-distant metastatic)	3.000000e-06

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004352	mortality
EFO:0000714	survival time
EFO:0007675	metastasis measurement

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D007806	Language Disorders	C10.597.606.150.500; C23.888.592.604.150.500
D065886	Neurodevelopmental Disorders	F03.625
D000067559	Specific Learning Disorder	C10.597.606.150.550.700; C23.888.592.604.150.550.700; F03.625.374.188.700; F03.625.562.700

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

18 total (human), top 18 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, increases methylation, decreases methylation, increases expression	2
Acetaminophen	decreases expression, increases expression	2
Aflatoxin B1	affects methylation, decreases expression	2
methyleugenol	decreases expression	1
sulforaphane	decreases expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
Fulvestrant	affects cotreatment, increases methylation	1
Benzo(a)pyrene	affects methylation	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Lead	affects expression	1
Methapyrilene	increases methylation	1
N-Nitrosopyrrolidine	decreases expression	1
Tretinoin	decreases expression	1
Triclosan	increases expression	1
Valproic Acid	increases methylation	1

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_E2FN	HAP1 OTUD7A (-) 1	Cancer cell line	Male
CVCL_E2FP	HAP1 OTUD7A (-) 2	Cancer cell line	Male
CVCL_E2FQ	HAP1 OTUD7A (-) 3	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04586348	PHASE4	UNKNOWN	Prenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115	PHASE4	UNKNOWN	Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties,
NCT02559102	PHASE3	COMPLETED	Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079	PHASE3	COMPLETED	Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480	PHASE3	RECRUITING	Reducing Missed Appointments
NCT07377032	PHASE3	RECRUITING	TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT00033150	PHASE3	COMPLETED	A Comparison of Language Intervention Programs
NCT02909959	PHASE2	COMPLETED	Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder
NCT06081348	PHASE2	RECRUITING	Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
NCT06352372	PHASE2	COMPLETED	Safety and Efficacy of tPBM for Epileptiform Activity in Autism
NCT00840060	PHASE2	COMPLETED	Efficacy of AMALS in Treating Language Impairment in Children
NCT04060017	PHASE2	ACTIVE_NOT_RECRUITING	Early Treatment of Language Impairment in Young Children With Autism Spectrum Disorder With Leucovorin Calcium
NCT04060030	PHASE2	RECRUITING	Treatment of Social and Language Deficits With Leucovorin for Young Children With Autism
NCT04937452	PHASE2	COMPLETED	Dopaminergic Therapy for Frontotemporal Dementia Patients
NCT00503191	PHASE1	COMPLETED	NeuroModulation Technique Treatment of Autism
NCT04475848	PHASE1	COMPLETED	A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants
NCT06300398	PHASE1	COMPLETED	IAMA-6 Oral Dose Study in Healthy Adults
NCT01783041	PHASE2/PHASE3	COMPLETED	Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants
NCT05767385	PHASE2/PHASE3	RECRUITING	Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior
NCT05675098	EARLY_PHASE1	NOT_YET_RECRUITING	Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy
NCT00783783	Not specified	COMPLETED	CYP2D6 Pharmacogenetics in Risperidone-Treated Children
NCT01778504	Not specified	RECRUITING	Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders
NCT01850784	Not specified	UNKNOWN	High Energy Formula Feeding in Infants With Congenital Heart Disease
NCT01922791	Not specified	COMPLETED	Nutrition and Pregnancy Intervention Study
NCT01942525	Not specified	UNKNOWN	Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants
NCT02003170	Not specified	COMPLETED	Etiology and Early Diagnosis of Neurodevelopmental Disorders
NCT02118649	Not specified	ACTIVE_NOT_RECRUITING	Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game
NCT02557191	Not specified	TERMINATED	Biomarkers, Neurodevelopment and Preterm Infants
NCT02690675	Not specified	COMPLETED	Iron Supplement Effect on Child Development
NCT02694003	Not specified	COMPLETED	Better Nights, Better Days for Children With Neurodevelopment Disorders
NCT02792894	Not specified	COMPLETED	Family Networks (FaNs) for Children With Developmental Disorders and Delays
NCT02871674	Not specified	UNKNOWN	Good Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial
NCT02887157	Not specified	COMPLETED	Analyzing Retinal Microanatomy in ROP
NCT02898298	Not specified	COMPLETED	Positive Emotion Regulation Training in Children, Adolescents and Young Adults With and Without Developmental Disorder
NCT02912780	Not specified	UNKNOWN	Introduction of Microsystems in a Level 3 Neonatal Intensive Care Unit
NCT03023293	Not specified	COMPLETED	n-3 PUFAs, Irisin and Maternal Glucose Metabolism From Pregnancy to Postpartum
NCT03023644	Not specified	COMPLETED	Improving Neurodevelopmental Outcomes in Children With Congenital Heart Disease: An Intervention Study
NCT03032991	Not specified	UNKNOWN	Early Biomarkers of Neurodevelopment in Offspring of Diabetic Mothers
NCT03088189	Not specified	TERMINATED	Effect of Parental Peri-conceptional Vitamin B12 Supplementation on Infant Neurocognitive Development in Offspring
NCT03096028	Not specified	COMPLETED	Developmental Origins of Mental Health Disorders