ZMYND8

Summary

ZMYND8 (zinc finger MYND-type containing 8, HGNC:9397) is a protein-coding gene on chromosome 20q13.12, encoding MYND-type zinc finger-containing chromatin reader ZMYND8 (Q9ULU4). Chromatin reader that recognizes dual histone modifications such as histone H3.1 dimethylated at ‘Lys-36’ and histone H4 acetylated at ‘Lys-16’ (H3.1K36me2-H4K16ac) and histone H3 methylated at ‘Lys-4’ and histone H4 acetylated at ‘Lys-14’ (H3K4me1-H3K14ac). It is a selective cancer dependency (DepMap: 30.9% of cell lines).

The protein encoded by this gene is a receptor for activated C-kinase (RACK) protein. The encoded protein has been shown to bind in vitro to activated protein kinase C beta I. In addition, this protein is a cutaneous T-cell lymphoma-associated antigen. Finally, the protein contains a bromodomain and two zinc fingers, and is thought to be a transcriptional regulator. Multiple transcript variants encoding several different isoforms have been found for this gene.

Source: NCBI Gene 23613 — RefSeq curated summary.

At a glance

• Gene–disease (curated): syndromic complex neurodevelopmental disorder (Definitive, ClinGen) — +2 more curated relationships
• GWAS associations: 17
• Clinical variants (ClinVar): 205 total — 2 pathogenic, 4 likely-pathogenic
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• Cancer dependency (DepMap): dependent in 30.9% of screened cell lines
• MANE Select transcript: NM_001281775

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9397
Approved symbol	ZMYND8
Name	zinc finger MYND-type containing 8
Location	20q13.12
Locus type	gene with protein product
Status	Approved
Aliases	RACK7, KIAA1125
Ensembl gene	ENSG00000101040
Ensembl biotype	protein_coding
OMIM	615713
Entrez	23613

Gene structure

Transcript identifiers

Ensembl transcripts: 43 — 42 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000262975, ENST00000311275, ENST00000352431, ENST00000355972, ENST00000360911, ENST00000372023, ENST00000396281, ENST00000435836, ENST00000441977, ENST00000446894, ENST00000446994, ENST00000458360, ENST00000461685, ENST00000467200, ENST00000468376, ENST00000471951, ENST00000536340, ENST00000540497, ENST00000611941, ENST00000617418, ENST00000619049, ENST00000906032, ENST00000906033, ENST00000906034, ENST00000906035, ENST00000906036, ENST00000906037, ENST00000906038, ENST00000906039, ENST00000906040, ENST00000906041, ENST00000914339, ENST00000914340, ENST00000914341, ENST00000914342, ENST00000914343, ENST00000914344, ENST00000914345, ENST00000962289, ENST00000962290, ENST00000962291, ENST00000962292, ENST00000962293

RefSeq mRNA: 19 — MANE Select: NM_001281775 NM_001281771, NM_001281772, NM_001281773, NM_001281774, NM_001281775, NM_001281776, NM_001281777, NM_001281778, NM_001281779, NM_001281780, NM_001281781, NM_001281782, NM_001281783, NM_001281784, NM_001363714, NM_001363741, NM_012408, NM_183047, NM_183048

CCDS: CCDS13404, CCDS13405, CCDS46613, CCDS63300, CCDS63301, CCDS63303, CCDS63304, CCDS63305, CCDS63306, CCDS74738, CCDS86961, CCDS86962

Canonical transcript exons

ENST00000471951 — 23 exons

Exon	Start	End
ENSE00000845228	47227203	47227281
ENSE00000845229	47229726	47229806
ENSE00001151276	47236326	47236516
ENSE00001193285	47238758	47239138
ENSE00001289078	47298729	47298947
ENSE00001289538	47220258	47220324
ENSE00001289547	47221314	47221474
ENSE00001289554	47224317	47224556
ENSE00001372033	47212642	47212725
ENSE00001408656	47209214	47210897
ENSE00003484952	47290187	47290274
ENSE00003489854	47246008	47246517
ENSE00003516276	47294666	47294779
ENSE00003531121	47262288	47262428
ENSE00003548272	47287229	47287284
ENSE00003551586	47347856	47347926
ENSE00003574363	47283571	47283648
ENSE00003577099	47249287	47249439
ENSE00003580830	47282102	47282217
ENSE00003600352	47276314	47276795
ENSE00003613001	47356657	47356699
ENSE00003681882	47310056	47310204
ENSE00003789058	47291796	47291888

Expression profiles

Bgee: expression breadth ubiquitous, 300 present calls, max score 97.80.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 38.7064 / max 452.2007, expressed in 1815 samples.

FANTOM5 promoters (20 alternative TSS)

Promoter ID	TPM avg	Samples expressed
187616	24.8113	1788
187617	8.0761	1657
187598	3.1793	1237
187609	0.8853	240
187597	0.2173	110
187605	0.2077	113
187600	0.1566	65
187613	0.1512	78
187599	0.1459	55
187615	0.1445	51

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
corpus epididymis	UBERON:0004359	97.80	gold quality
oocyte	CL:0000023	97.25	gold quality
caput epididymis	UBERON:0004358	97.24	gold quality
pons	UBERON:0000988	96.93	gold quality
cauda epididymis	UBERON:0004360	96.74	gold quality
superior surface of tongue	UBERON:0007371	96.34	gold quality
superior vestibular nucleus	UBERON:0007227	95.93	gold quality
trigeminal ganglion	UBERON:0001675	95.55	gold quality
trabecular bone tissue	UBERON:0002483	95.46	gold quality
pylorus	UBERON:0001166	95.36	gold quality
middle temporal gyrus	UBERON:0002771	95.04	gold quality
buccal mucosa cell	CL:0002336	95.03	gold quality
medulla oblongata	UBERON:0001896	94.88	gold quality
bronchial epithelial cell	CL:0002328	94.71	gold quality
secondary oocyte	CL:0000655	94.58	gold quality
cardia of stomach	UBERON:0001162	94.51	gold quality
renal medulla	UBERON:0000362	94.44	gold quality
lateral globus pallidus	UBERON:0002476	94.43	gold quality
inferior vagus X ganglion	UBERON:0005363	94.35	gold quality
lateral nuclear group of thalamus	UBERON:0002736	94.03	gold quality
parietal lobe	UBERON:0001872	94.01	gold quality
dorsal plus ventral thalamus	UBERON:0001897	93.98	gold quality
substantia nigra pars compacta	UBERON:0001965	93.98	gold quality
substantia nigra pars reticulata	UBERON:0001966	93.97	gold quality
bronchus	UBERON:0002185	93.93	gold quality
subthalamic nucleus	UBERON:0001906	93.92	gold quality
tibia	UBERON:0000979	93.91	gold quality
epithelium of bronchus	UBERON:0002031	93.90	gold quality
tongue	UBERON:0001723	93.81	gold quality
pharyngeal mucosa	UBERON:0000355	93.73	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-MTAB-10287	yes	46.32
E-HCAD-6	yes	42.89
E-ANND-3	yes	11.64
E-CURD-112	yes	8.09

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

8 targets.

Target	Regulation
ADORA1	Activation
CD44	Repression
EGFR	Repression
MMP1	Repression
MMP3	Repression
NAV2	Activation
SNAI2	Repression
VEGFA	Repression

Upstream regulators (CollecTRI, top): ESR1

miRNA regulators (miRDB)

106 targeting ZMYND8, 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-6833-3P	100.00	70.63	3197
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-574-5P	100.00	66.01	989
HSA-MIR-6748-5P	100.00	65.81	1057
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-590-3P	99.96	74.34	6478

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 30.9% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 23)

• ZMYND8 induces vegfa mRNA expression selectively in prostate cancer xenografts. (PMID:25117453)
• identified ZMYND8 (zinc finger and MYND [myeloid, Nervy, and DEAF-1] domain containing 8) as a novel DDR factor that recruits the nucleosome remodeling and histone deacetylation (NuRD) complex to damaged chromatin (PMID:25593309)
• study identifies that ZMYND8 has CHD4-independent functions in regulating gene expression through its modified histone-binding ability. (PMID:26655721)
• Findings reveal a RACK7/KDM5C-regulated, dynamic interchange between histone H3K4me1 and H3K4me3 at active enhancers, representing an additional layer of regulation of enhancer activity. Authors propose that RACK7/KDM5C functions as an enhancer “brake” to ensure appropriate enhancer activity, which, when compromised, could contribute to tumorigenesis. (PMID:27058665)
• ZMYND8’s PHD-Bromo cassette couples H3K4me1-H3K14ac with downregulation of metastasis-linked genes in prostate tumor cells. (PMID:27477906)
• The MYND domain of ZMYND8 directly interacts with PPPLPhi motifs in the NuRD subunit GATAD2A. (PMID:27732854)
• Single domain disruptions destroy the functional network of interactions initiated by ZMYND8, impairing recruitment to sites of DNA damage. Our data establish a proof of principle that rigidity can be compensated by concomitant DNA and histone post-translational-modifications (PTMs) interactions, maintaining multivalent engagement of transient chromatin states. (PMID:27926874)
• a dual histone reader ZMYND8 (zinc finger MYND (Myeloid, Nervy and DEAF-1)-type containing 8), was identified to be a novel target of all trans retinoic acid. (PMID:28232094)
• Data suggest that epithelial-mesenchymal transition (EMT) is regulated by ZMYND8 (receptor for activated protein kinase C) which selectively activates gene promoters of CLDN1 (claudin 1) and CDH1 (E-cadherin) in breast cancer cells; thus, the presence of ZMYND8 could be implicated in maintaining epithelial phenotype of cells; ZMYND8 regulates invasion/migration of breast cancer cells. (PMID:28432260)
• KDM5A demethylates H3K4 to allow ZMYND8-NuRD to operate within damaged chromatin to repair DNA double strand breaks. (PMID:28572115)
• Drebrin may regulate activities of epigenetic reader ZMYND8 via its cytoplasmic sequestration. (PMID:28966017)
• ZMYND8 interacts with HIF-1alpha and HIF-2alpha and enhances elongation of the global HIF-induced oncogenic genes by increasing recruitment of BRD4 and subsequent release of paused RNA polymerase II in breast cancer cells. (PMID:29629903)
• A novel role of tumor suppressor ZMYND8 in inducing differentiation of breast cancer cells through its dual-histone binding function. (PMID:31965980)
• ZMYND8 expression combined with pN and pM classification as a novel prognostic prediction model for colorectal cancer: Based on TCGA and GEO database analysis. (PMID:32224527)
• RACK7 recognizes H3.3G34R mutation to suppress expression of MHC class II complex components and their delivery pathway in pediatric glioblastoma. (PMID:32832624)
• ZMYND8 Expression in Breast Cancer Cells Blocks T-Lymphocyte Surveillance to Promote Tumor Growth. (PMID:33148660)
• Suppression of poised oncogenes by ZMYND8 promotes chemo-sensitization. (PMID:33323928)
• ZMYND8 preferentially binds phosphorylated EZH2 to promote a PRC2-dependent to -independent function switch in hypoxia-inducible factor-activated cancer. (PMID:33593912)
• ZMYND8-regulated IRF8 transcription axis is an acute myeloid leukemia dependency. (PMID:34358447)
• Validation of ZMYND8 as a new treatment target in hepatocellular carcinoma. (PMID:34462784)
• De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations. (PMID:35916866)
• ZMYND8 Is a Regulator of Sonic Hedgehog Signaling in ATRA-Mediated Differentiation of Neuroblastoma Cells. (PMID:38804064)
• USP7 deubiquitinates epigenetic reader ZMYND8 to promote breast cancer cell migration and invasion. (PMID:39128723)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	zmynd8	ENSDARG00000007601
danio_rerio	prkcbp1l	ENSDARG00000011932
mus_musculus	Zmynd8	ENSMUSG00000039671
rattus_norvegicus	Zmynd8	ENSRNOG00000019154
drosophila_melanogaster	Zmynd8	FBGN0039863

Paralogs (5): ZMYND11 (ENSG00000015171), PHF21B (ENSG00000056487), PHF12 (ENSG00000109118), PHF21A (ENSG00000135365), AIRE (ENSG00000160224)

Protein

Protein identifiers

MYND-type zinc finger-containing chromatin reader ZMYND8 — Q9ULU4 (reviewed: Q9ULU4)

Alternative names: Cutaneous T-cell lymphoma-associated antigen se14-3, Protein kinase C-binding protein 1, Rack7, Transcription coregulator ZMYND8, Zinc finger MYND domain-containing protein 8

All UniProt accessions (8): Q9ULU4, A0A087WV57, A0A087WVZ6, A0A087WYS3, H7C4X9, Q5TH07, Q5TH08, Q5TH12

UniProt curated annotations — full annotation on UniProt →

Function. Chromatin reader that recognizes dual histone modifications such as histone H3.1 dimethylated at ‘Lys-36’ and histone H4 acetylated at ‘Lys-16’ (H3.1K36me2-H4K16ac) and histone H3 methylated at ‘Lys-4’ and histone H4 acetylated at ‘Lys-14’ (H3K4me1-H3K14ac). May act as a transcriptional corepressor for KDM5D by recognizing the dual histone signature H3K4me1-H3K14ac. May also act as a transcriptional corepressor for KDM5C and EZH2. Recognizes acetylated histone H4 and recruits the NuRD chromatin remodeling complex to damaged chromatin for transcriptional repression and double-strand break repair by homologous recombination. Also activates transcription elongation by RNA polymerase II through recruiting the P-TEFb complex to target promoters. Localizes to H3.1K36me2-H4K16ac marks at all-trans-retinoic acid (ATRA)-responsive genes and positively regulates their expression. Promotes neuronal differentiation by associating with regulatory regions within the MAPT gene, to enhance transcription of a protein-coding MAPT isoform and suppress the non-coding MAPT213 isoform. Suppresses breast cancer, and prostate cancer cell invasion and metastasis.

Subunit / interactions. Monomer and homodimer. Interacts with NuRD subcomplexes containing GATAD2A. Interacts with the histone deacetylase NuRD complex subunit CHD4; the interaction is direct, appears to occur with monomeric ZMYND8, and is increased following DNA damage. Interacts (via N-terminus) with the P-TEFb complex subunit CCNT1 (via central region); the interaction is direct and the association appears to occur between homodimeric ZMYND8 and the activated form of the P-TEFb complex. Interacts (via N-terminus) with DBN1 (via ADF-H domain); the interaction leads to sequestering of ZMYND8 in the cytoplasm. Interacts with the P-TEFb complex subunit CDK9; the association appears to occur between homodimeric ZMYND8 and the activated form of the P-TEFb complex. Interacts with EZH2; the interaction is dependent on the presence of chromatin. Interacts (via MYND domain) with the NuRD complex subunit GATAD2A. Interacts with histone H3 (via N-terminus) that is both methylated at ‘Lys-4’ (H3K4me1) and acetylated at ‘Lys-14’ (H3K14ac), with histone H3 (via N-terminus) unmodified at ‘Lys-4’ (H3K4me0) and acetylated at ‘Lys-14’ (H3K14ac), and with histone H3 (via N-terminus) di-methylated at ‘Lys-36’ (H3K36me2). Interacts (via Bromo domain) with histone H4 acetylated at ‘Lys-16’ (H4K16ac). Interacts with HDAC1. Interacts with HDAC2. Interacts with KDM1A. Interacts with KDM5C. Interacts with KDM5D. Interacts in vitro with PRKCB. Interacts with RNA polymerase II subunit POLR2A phosphorylated at ‘Ser-5’. Interacts with ZNF592. Interacts with ZNF687. Does not interact with GATAD2B.

Subcellular location. Nucleus. Chromosome. Cytoplasm.

Tissue specificity. Expressed in neurons (at protein level). Absent in astrocytes (at protein level). Expressed in all tissues examined with highest expression in brain, lung, pancreas, and placenta. Expressed in cutaneous T-cell lymphomas (CTCL).

Disease relevance. Mutations in ZMYND8 may be the cause of syndromic intellectual disability with variable cardiovascular, ophthalmologic and minor skeletal anomalies.

Domain organisation. The bromo domain is required for interaction with histone H4K16ac. The bromo domain is required for localization to DNA damage sites. The MYND-type zinc finger domain is required for localization to DNA damage sites. The PWWP domain is required for interaction with histone H3.1K36me2.

Induction. Induced by all-trans-retinoic acid (ATRA) (at protein level).

Isoforms (23)

UniProt ID	Names	Canonical?
Q9ULU4-1	1	yes
Q9ULU4-2	2
Q9ULU4-3	3
Q9ULU4-4	4
Q9ULU4-5	5
Q9ULU4-6	6
Q9ULU4-7	7
Q9ULU4-8	8
Q9ULU4-9	9
Q9ULU4-10	10
Q9ULU4-11	11
Q9ULU4-12	12
Q9ULU4-13	13
Q9ULU4-14	14
Q9ULU4-15	15
Q9ULU4-16	16
Q9ULU4-17	17
Q9ULU4-18	18
Q9ULU4-19	19
Q9ULU4-20	20
Q9ULU4-21	21
Q9ULU4-22	22
Q9ULU4-23	23

RefSeq proteins (19): NP_001268700, NP_001268701, NP_001268702, NP_001268703, NP_001268704, NP_001268705, NP_001268706, NP_001268707, NP_001268708, NP_001268709, NP_001268710, NP_001268711, NP_001268712, NP_001268713, NP_001350643, NP_001350670, NP_036540, NP_898868, NP_898869 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000313	PWWP_dom	Domain
IPR001487	Bromodomain	Domain
IPR001965	Znf_PHD	Domain
IPR002893	Znf_MYND	Domain
IPR011011	Znf_FYVE_PHD	Homologous_superfamily
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR019786	Zinc_finger_PHD-type_CS	Conserved_site
IPR019787	Znf_PHD-finger	Domain
IPR021931	ZMYND8	Family
IPR036427	Bromodomain-like_sf	Homologous_superfamily
IPR037967	ZMYND8_Bromo_dom	Domain
IPR044075	PRKCBP1_PHD	Domain
IPR056987	ZMYND8_CC	Domain
IPR057053	MYND_ZMYND11_ZMYD8	Domain

Pfam: PF00439, PF00628, PF00855, PF12064, PF23460, PF24324

UniProt features (186 total): modified residue 31, cross-link 24, helix 20, binding site 19, compositionally biased region 16, splice variant 13, mutagenesis site 12, strand 12, region of interest 11, sequence conflict 10, sequence variant 9, turn 4, domain 2, zinc finger region 2, chain 1

Structure

Experimental structures (PDB)

8 structures.

PDB	Method	Resolution (Å)
9T2G	X-RAY DIFFRACTION	1.66
4COS	X-RAY DIFFRACTION	1.67
9T2F	X-RAY DIFFRACTION	1.68
5B73	X-RAY DIFFRACTION	1.8
9WV4	X-RAY DIFFRACTION	2.29
5Y1Z	X-RAY DIFFRACTION	2.68
5MQ4	X-RAY DIFFRACTION	2.7
7CWH	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9ULU4-F1	59.50	0.31

Functional residue map

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

Ligand- & substrate-binding residues (19): 91; 94; 103; 106; 111; 114; 127; 130; 255; 258; 274; 1028 …

Post-translational modifications (55): 12, 12, 12, 12, 12, 12, 12, 12, 12, 12, 12, 12, 24, 404, 406, 413, 417, 425, 432, 444 …

Mutagenesis-validated functional residues (12):

Position	Phenotype
76	decreases interaction with histone h3k4me0.
79	decreases interaction with histone h3k4me0.
84	decreases interaction with histone h3k4me0.
88	decreases interaction with histone h3k4me0.
89	increases interaction with histone h3k4me0.
104	decreases interaction with histone h3k4me0.
227–228	decreases interaction with histone h3k4me0 and histone h4k16ac.
228	decreases interaction with histone h4ac.
240	decreases binding to dbn1.
307	severely decreases interaction with histone h3.1k36me2.
311	loss of binding to dbn1. loss of cytoplasmic localization.
312	loss of binding to dbn1.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9940951	Interaction of NuRD complexes with transcription factors

MSigDB gene sets: 462 (showing top): GOBP_DENDRITE_DEVELOPMENT, MYAATNNNNNNNGGC_UNKNOWN, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_YELLOW_DN, HNF3ALPHA_Q6, LFA1_Q6, GCANCTGNY_MYOD_Q6, GOBP_DENDRITIC_SPINE_DEVELOPMENT, GOBP_CELLULAR_COMPONENT_MAINTENANCE, GOBP_NEUROGENESIS, TAL1ALPHAE47_01, HNF1_Q6, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, CAGCTG_AP4_Q5, EFC_Q6, GOBP_CELL_CELL_SIGNALING

GO Biological Process (14): negative regulation of transcription by RNA polymerase II (GO:0000122), double-strand break repair via homologous recombination (GO:0000724), nervous system development (GO:0007399), negative regulation of cell migration (GO:0030336), positive regulation of transcription elongation by RNA polymerase II (GO:0032968), positive regulation of filopodium assembly (GO:0051491), positive regulation of dendritic spine development (GO:0060999), protein localization to chromatin (GO:0071168), modulation of excitatory postsynaptic potential (GO:0098815), regulation of postsynaptic density protein 95 clustering (GO:1902897), positive regulation of dendritic spine maintenance (GO:1902952), chromatin organization (GO:0006325), regulation of DNA-templated transcription (GO:0006355), negative regulation of DNA-templated transcription (GO:0045892)

GO Molecular Function (8): transcription corepressor activity (GO:0003714), zinc ion binding (GO:0008270), protein domain specific binding (GO:0019904), histone H3K14ac reader activity (GO:0140015), histone H3K4me1 reader activity (GO:0140109), DNA-binding transcription factor binding (GO:0140297), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (9): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytoplasm (GO:0005737), dendritic spine (GO:0043197), dendritic shaft (GO:0043198), site of DNA damage (GO:0090734), chromosome (GO:0005694)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
NuRD complex assembly	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
negative regulation of DNA-templated transcription	2
DNA-templated transcription	2
histone H3 reader activity	2
chromosome	2
nuclear lumen	2
intracellular membraneless organelle	2
dendrite	2
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
recombinational repair	1
double-strand break repair	1
system development	1
cell migration	1
regulation of cell migration	1
negative regulation of cell motility	1
transcription elongation by RNA polymerase II	1
positive regulation of DNA-templated transcription, elongation	1
regulation of transcription elongation by RNA polymerase II	1
positive regulation of transcription by RNA polymerase II	1
filopodium assembly	1
regulation of filopodium assembly	1
positive regulation of plasma membrane bounded cell projection assembly	1
positive regulation of developmental process	1
dendritic spine development	1
regulation of dendritic spine development	1
protein localization to chromosome	1
regulation of signal transduction	1
regulation of nervous system process	1
regulation of membrane potential	1
modulation of chemical synaptic transmission	1
excitatory postsynaptic potential	1
postsynaptic density protein 95 clustering	1
regulation of protein localization to membrane	1
regulation of postsynaptic density organization	1
positive regulation of cell projection organization	1
dendritic spine maintenance	1
regulation of dendritic spine maintenance	1
cellular component organization	1
regulation of gene expression	1

Protein interactions and networks

STRING

1054 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZMYND8	ZNF592	Q92610	965
ZMYND8	ZNF687	Q8N1G0	870
ZMYND8	KDM5C	P41229	790
ZMYND8	CHD4	Q14839	722
ZMYND8	GATAD2A	Q86YP4	709
ZMYND8	ZNF532	Q9HCE3	682
ZMYND8	H3C1	P02295	620
ZMYND8	BRD2	P25440	620
ZMYND8	H3-3A	P06351	588
ZMYND8	H3-5	Q6NXT2	573
ZMYND8	H3-4	Q16695	573
ZMYND8	H3C14	Q71DI3	571
ZMYND8	H3-7	Q5TEC6	571
ZMYND8	KDM1A	O60341	566
ZMYND8	ZNF512B	Q96KM6	529

IntAct

94 interactions, top by confidence:

A	B	Type	Score
CSNK2A1	EIF3J	psi-mi:“MI:0914”(association)	0.810
CSNK2A2	EIF3J	psi-mi:“MI:0914”(association)	0.790
HDAC1	ZNF609	psi-mi:“MI:0914”(association)	0.730
MBD3	CDK2AP1	psi-mi:“MI:0914”(association)	0.730
CSNK2B	RPS6KA5	psi-mi:“MI:0914”(association)	0.660
CSNK2B	NMT2	psi-mi:“MI:0914”(association)	0.660
KDM5A	SIN3B	psi-mi:“MI:0914”(association)	0.640
P4HA3	FAM171A2	psi-mi:“MI:0914”(association)	0.640
CSNK2B	RPS6KA4	psi-mi:“MI:0914”(association)	0.640
ASF1B	HAT1	psi-mi:“MI:0914”(association)	0.640
CSNK2A2	PES1	psi-mi:“MI:0914”(association)	0.640
RACK1	RIOK3	psi-mi:“MI:0914”(association)	0.640
DBN1	ZMYND8	psi-mi:“MI:0407”(direct interaction)	0.630
DBN1	ZMYND8	psi-mi:“MI:0403”(colocalization)	0.630
KCTD17	CBX4	psi-mi:“MI:0914”(association)	0.530
ZNF408	LRP4	psi-mi:“MI:0914”(association)	0.530
TSPYL1	GPC3	psi-mi:“MI:0914”(association)	0.530
ABT1	ZNF316	psi-mi:“MI:0914”(association)	0.530
RPS3	ZNF316	psi-mi:“MI:0914”(association)	0.530
DYRK1A	ZMYND8	psi-mi:“MI:0915”(physical association)	0.500
BCL6	HDAC4	psi-mi:“MI:0914”(association)	0.500
BCL6	ZMYND8	psi-mi:“MI:0915”(physical association)	0.500
ZMYND8	APOD	psi-mi:“MI:0915”(physical association)	0.400
ERBB2	ZMYND8	psi-mi:“MI:0915”(physical association)	0.370
ZMYND8	ATRX	psi-mi:“MI:0915”(physical association)	0.370
ZMYND8	FMR1	psi-mi:“MI:0915”(physical association)	0.370
ZMYND8	FXR2	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (318): ZMYND8 (Affinity Capture-MS), ZMYND8 (Affinity Capture-MS), CHD4 (Affinity Capture-MS), HDAC1 (Affinity Capture-MS), HDAC2 (Affinity Capture-MS), KRAS (Affinity Capture-MS), PSMD5 (Affinity Capture-MS), RBBP7 (Affinity Capture-MS), TSPYL1 (Affinity Capture-MS), MBD2 (Affinity Capture-MS), MTA1 (Affinity Capture-MS), MTA2 (Affinity Capture-MS), ZNF592 (Affinity Capture-MS), CHERP (Affinity Capture-MS), MGA (Affinity Capture-MS)

ESM2 similar proteins: A0A286Y9D1, A0JMK9, A2BIL7, A8DZJ1, B2KF05, B2RRD7, B4KLY7, F4IDY7, O15042, O94880, O97159, P55201, P97496, Q05913, Q20448, Q2T9V9, Q3T095, Q4V7A6, Q5EA28, Q5R7X2, Q61103, Q63ZP1, Q6DD45, Q6FSB1, Q6GQJ2, Q6IE81, Q6IE82, Q6NV83, Q6NWE1, Q6P2L6, Q6ZPI0, Q7KRW8, Q7ZVP1, Q803A0, Q8BRB7, Q8WML3, Q8WUB8, Q92613, Q92785, Q92922

Diamond homologs: A0A0R4IXF6, A0A286Y9D1, A0A7U2QYM2, A2AUY4, B2KF05, B2RRD7, B7ZS37, G5E8P1, O15164, O54826, O60885, O74759, O75164, O88665, O94880, O94953, O95696, P0CB22, P21675, P34447, P35817, P51123, P55197, P55198, P55201, Q03330, Q07442, Q09472, Q0P4S5, Q12311, Q12830, Q1LUC3, Q20318, Q29EQ3, Q338B9, Q3UQU0, Q54BA2, Q5E9T7, Q5R8B0, Q5RD88

SIGNOR signaling

10 interactions.

A	Effect	B	Mechanism
BRD2	“up-regulates activity”	ZMYND8	relocalization
ZMYND8	“up-regulates activity”	ZMYND8	binding
ZMYND8	“down-regulates quantity by repression”	SNAI2	“transcriptional regulation”
ZMYND8	“down-regulates quantity by repression”	CD44	“transcriptional regulation”
ZMYND8	“down-regulates quantity by repression”	EGFR	“transcriptional regulation”
ZMYND8	“down-regulates quantity by repression”	VEGFA	“transcriptional regulation”
ZMYND8	“down-regulates quantity by repression”	MMP1	“transcriptional regulation”
ZMYND8	“down-regulates quantity by repression”	MMP3	“transcriptional regulation”
ZMYND8	“up-regulates quantity by expression”	ADORA1	“transcriptional regulation”
ZMYND8	“up-regulates quantity by expression”	NAV2	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 118 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
Transcriptional regulation of brown and beige adipocyte differentiation by EBF2	6	27.5×	5e-06
Regulation of TP53 Activity through Acetylation	5	27.5×	3e-05
Regulation of PTEN gene transcription	9	19.4×	2e-07
Eukaryotic Translation Initiation	5	18.6×	1e-04
Cap-dependent Translation Initiation	5	18.6×	1e-04
SARS-CoV-1 modulates host translation machinery	5	18.6×	1e-04
Formation of the ternary complex, and subsequently, the 43S complex	7	18.2×	6e-06
Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells)	10	17.6×	1e-07

GO biological processes:

GO term	Partners	Fold	FDR
regulation of stem cell differentiation	6	41.8×	1e-06
negative regulation of proteasomal ubiquitin-dependent protein catabolic process	5	18.2×	8e-04
cytoplasmic translation	9	15.2×	1e-06
circadian regulation of gene expression	6	12.8×	8e-04
negative regulation of translation	7	12.5×	2e-04
chromatin remodeling	15	9.9×	2e-08
nucleosome assembly	7	8.9×	1e-03
translation	7	6.5×	6e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	4
Uncertain significance	143
Likely benign	21
Benign	6

Top pathogenic / likely-pathogenic (6)

Variant ID	HGVS	Classification
2692521	NM_001281775.3(ZMYND8):c.1960_1964del (p.Lys654fs)	Pathogenic
3903206	NM_001281775.3(ZMYND8):c.1624C>T (p.Arg542Ter)	Pathogenic
3366054	NM_001281775.3(ZMYND8):c.749G>A (p.Gly250Glu)	Likely pathogenic
3897568	NM_001281775.3(ZMYND8):c.1877del (p.Asp626fs)	Likely pathogenic
4830296	NM_001281775.3(ZMYND8):c.3212A>G (p.Gln1071Arg)	Likely pathogenic
4830828	NM_001281775.3(ZMYND8):c.1093G>A (p.Glu365Lys)	Likely pathogenic

SpliceAI

4472 predictions. Top by Δscore:

Variant	Effect	Δscore
20:47212726:C:CC	acceptor_gain	1.0000
20:47221312:A:AC	donor_gain	1.0000
20:47221313:C:CC	donor_gain	1.0000
20:47221324:T:A	donor_gain	1.0000
20:47221470:AGTAG:A	acceptor_gain	1.0000
20:47221471:GTAG:G	acceptor_gain	1.0000
20:47221472:TAG:T	acceptor_gain	1.0000
20:47221475:C:CC	acceptor_gain	1.0000
20:47221482:C:CT	acceptor_gain	1.0000
20:47221483:A:T	acceptor_gain	1.0000
20:47224311:CATTA:C	donor_loss	1.0000
20:47224313:TTACC:T	donor_loss	1.0000
20:47224314:TACCT:T	donor_loss	1.0000
20:47224316:C:CG	donor_loss	1.0000
20:47224316:CCTGA:C	donor_gain	1.0000
20:47224412:T:TA	donor_gain	1.0000
20:47224552:CAGCT:C	acceptor_gain	1.0000
20:47224553:AGCT:A	acceptor_gain	1.0000
20:47224554:GCT:G	acceptor_gain	1.0000
20:47224555:CT:C	acceptor_gain	1.0000
20:47224555:CTC:C	acceptor_gain	1.0000
20:47224556:TC:T	acceptor_loss	1.0000
20:47224556:TCTG:T	acceptor_gain	1.0000
20:47224557:C:A	acceptor_gain	1.0000
20:47224557:C:CC	acceptor_gain	1.0000
20:47224557:C:T	acceptor_loss	1.0000
20:47224560:G:GC	acceptor_gain	1.0000
20:47227197:CCTTA:C	donor_loss	1.0000
20:47227198:CTTAC:C	donor_loss	1.0000
20:47227199:TTACC:T	donor_loss	1.0000

AlphaMissense

8210 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:47224327:G:C	C1062W	1.000
20:47224328:C:A	C1062F	1.000
20:47224328:C:G	C1062S	1.000
20:47224328:C:T	C1062Y	1.000
20:47224329:A:C	C1062G	1.000
20:47224329:A:G	C1062R	1.000
20:47224329:A:T	C1062S	1.000
20:47224337:A:G	M1059T	1.000
20:47224339:G:C	H1058Q	1.000
20:47224339:G:T	H1058Q	1.000
20:47224340:T:A	H1058L	1.000
20:47224340:T:C	H1058R	1.000
20:47224340:T:G	H1058P	1.000
20:47224341:G:C	H1058D	1.000
20:47224341:G:T	H1058N	1.000
20:47224348:C:A	W1055C	1.000
20:47224348:C:G	W1055C	1.000
20:47224349:C:G	W1055S	1.000
20:47224350:A:G	W1055R	1.000
20:47224350:A:T	W1055R	1.000
20:47224351:G:C	H1054Q	1.000
20:47224351:G:T	H1054Q	1.000
20:47224353:G:C	H1054D	1.000
20:47224360:C:A	Q1051H	1.000
20:47224360:C:G	Q1051H	1.000
20:47224363:G:C	C1050W	1.000
20:47224364:C:A	C1050F	1.000
20:47224364:C:G	C1050S	1.000
20:47224364:C:T	C1050Y	1.000
20:47224365:A:C	C1050G	1.000

dbSNP variants (sampled 300 via entrez): RS1000010017 (20:47237962 C>G,T), RS1000038465 (20:47329015 AAT>A), RS1000042682 (20:47288831 G>C), RS1000063894 (20:47228988 A>G), RS1000076138 (20:47285127 G>A), RS1000097854 (20:47264164 T>C), RS1000098180 (20:47295575 C>A), RS1000104111 (20:47323020 G>C), RS1000113342 (20:47244411 A>G), RS1000124082 (20:47314630 T>C), RS1000144881 (20:47335091 A>T), RS1000155042 (20:47310703 T>C,G), RS1000203631 (20:47279072 A>T), RS1000216291 (20:47351595 A>G,T), RS1000251031 (20:47270542 T>C)

Disease associations

OMIM: gene MIM:615713 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
neurodevelopmental disorder	Strong	Autosomal dominant
autism spectrum disorder	Limited	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
syndromic complex neurodevelopmental disorder	Definitive	AD

Mondo (3): neurodevelopmental disorder (MONDO:0700092), intellectual disability (MONDO:0001071), autism spectrum disorder (MONDO:0005258)

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

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

17 associations (top):

Study	Trait	p-value
GCST002347_1	Response to protease inhibitor treatment in hepatitis c (bilirubin toxicity)	1.000000e-06
GCST003986_21	Migraine	4.000000e-08
GCST004599_212	Mean platelet volume	5.000000e-20
GCST005956_29	Waist-to-hip ratio adjusted for BMI	4.000000e-10
GCST005957_10	Waist-to-hip ratio adjusted for BMI (age <50)	5.000000e-06
GCST005958_17	Waist-to-hip ratio adjusted for BMI (age >50)	3.000000e-06
GCST005962_25	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	1.000000e-09
GCST009192_10	Parahippocampal gyrus volume	3.000000e-06
GCST009391_1051	Metabolite levels	3.000000e-06
GCST009391_1327	Metabolite levels	5.000000e-06
GCST011125_12	Caffeine consumption from coffee	3.000000e-11
GCST011494_102	Daytime nap	3.000000e-10
GCST012306_7	Bipolar disorder	2.000000e-07
GCST90002381_252	Eosinophil count	4.000000e-09
GCST90002382_531	Eosinophil percentage of white cells	6.000000e-10
GCST90002395_600	Mean platelet volume	4.000000e-44
GCST90002401_323	Platelet distribution width	1.000000e-10

EFO canonical traits (12, from GWAS)

EFO ID	Trait name
EFO:0004570	bilirubin measurement
EFO:0005657	response to protease inhibitor
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement
EFO:0010363	lysophosphatidylcholine 20:4 measurement
EFO:0010361	lysophosphatidylcholine 18:2 measurement
EFO:0006781	coffee consumption measurement
EFO:0007828	daytime rest measurement
EFO:0004842	eosinophil count
EFO:0007991	eosinophil percentage of leukocytes
EFO:0007984	platelet component distribution width

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
D065886	Neurodevelopmental Disorders	F03.625

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3627580 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,538 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL1232461	MOLIBRESIB	2	1,538

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

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: other protein — Non-enzymatic BRD containing proteins

ChEMBL bioactivities

4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
8.88	Kd	1.322	nM	CHEMBL5653589
8.88	ED50	1.322	nM	CHEMBL5653589
6.96	IC50	110	nM	MOLIBRESIB
6.92	Kd	121	nM	MOLIBRESIB

PubChem BioAssay actives

3 with measured affinity, of 15 total; 2 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149814: Binding affinity to human ZMYND8 incubated for 45 mins by Kinobead based pull down assay	kd	0.0013	uM
2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide	2178753: Inhibition of ZMYND8 (unknown origin) incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	ic50	0.1100	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
(+)-JQ1 compound	affects expression, increases reaction, decreases expression	7
sodium arsenite	affects cotreatment, increases abundance, increases expression, decreases expression	3
Tobacco Smoke Pollution	decreases expression, decreases methylation	3
Valproic Acid	affects expression, decreases expression	3
methacrylaldehyde	increases abundance, affects cotreatment, decreases expression	2
Acrolein	affects cotreatment, decreases expression, increases abundance	2
Air Pollutants	affects cotreatment, decreases expression, increases abundance	2
Cisplatin	increases expression, decreases expression, affects cotreatment	2
Formaldehyde	decreases expression	2
Ozone	affects cotreatment, decreases expression, increases abundance	2
Dronabinol	increases expression, increases glycosylation	2
Tretinoin	decreases expression, affects binding, increases reaction, increases expression, affects reaction	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	2
Cadmium Chloride	increases expression, decreases expression, increases abundance	2
Particulate Matter	increases abundance, decreases expression	2
FR900359	affects phosphorylation	1
TAK-243	decreases sumoylation	1
dicrotophos	increases expression	1
methylmercuric chloride	increases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	increases abundance, affects cotreatment, decreases expression	1
bisphenol A	affects cotreatment, decreases expression	1
trichostatin A	increases expression	1
arsenite	affects binding, decreases reaction	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
versicolorin A	decreases expression	1
coumarin	affects phosphorylation	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1

ChEMBL screening assays

12 unique, capped per target: 12 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL3748055	Binding	Inhibition of human PKCb1 using histone H1 as substrate	Discovery of 2-(1H-indol-5-ylamino)-6-(2,4-difluorophenylsulfonyl)-8-methylpyrido[2,3-d]pyrimidin-7(8H)-one (7ao) as a potent selective inhibitor of Polo like kinase 2 (PLK2). — Bioorg Med Chem

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_TZ32	HAP1 ZMYND8 (-) 1	Cancer cell line	Male
CVCL_TZ33	HAP1 ZMYND8 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00391261	PHASE4	COMPLETED	An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications.
NCT01028820	PHASE4	COMPLETED	FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders
NCT01333865	PHASE4	COMPLETED	A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders
NCT01337700	PHASE4	COMPLETED	Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism
NCT01695200	PHASE4	COMPLETED	Omega-3 Fatty Acids in Autism Spectrum Disorders
NCT02096952	PHASE4	COMPLETED	Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD
NCT02235467	PHASE4	COMPLETED	Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism
NCT02940574	PHASE4	COMPLETED	Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders
NCT03333629	PHASE4	COMPLETED	Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes
NCT03337646	PHASE4	COMPLETED	Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism
NCT03538431	PHASE4	COMPLETED	Improving Driving in Young People With Autism Spectrum Disorders
NCT03757585	PHASE4	COMPLETED	Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD)
NCT04903353	PHASE4	COMPLETED	Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole
NCT05063656	PHASE4	COMPLETED	Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin
NCT05146245	PHASE4	UNKNOWN	Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT
NCT05916339	PHASE4	RECRUITING	AWARE: Management of ADHD in Autism Spectrum Disorder
NCT05954052	PHASE4	TERMINATED	A Study of Glutathione in Children With Autism Spectrum Disorder
NCT06853665	PHASE4	RECRUITING	The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine
NCT07054697	PHASE4	COMPLETED	Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder
NCT07161804	PHASE4	COMPLETED	Pilot RCT Using Homeopathic Medicines in ASD
NCT07439042	PHASE4	NOT_YET_RECRUITING	Buspirone for Anxiety in Autistic Youth
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,
NCT01302964	PHASE3	COMPLETED	Mirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders
NCT01706523	PHASE3	TERMINATED	Open Label Extension Study of STX209 (Arbaclofen) in Autism Spectrum Disorders
NCT01825798	PHASE3	COMPLETED	Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD)
NCT01972074	PHASE3	COMPLETED	Behavioral and Neural Response to Memantine in Adolescents With Autism Spectrum Disorder
NCT02985749	PHASE3	COMPLETED	A Study of Oxytocin for the Treatment of Social Impairment in Individuals With High Functioning Autism Spectrum Disorder
NCT03197922	PHASE3	COMPLETED	Treatment of Encopresis in Children With Autism Spectrum Disorders
NCT03504917	PHASE3	TERMINATED	A Study of Balovaptan in Adults With Autism Spectrum Disorder With a 2-Year Open-Label Extension
NCT03553875	PHASE3	TERMINATED	Memantine for the Treatment of Social Deficits in Youth With Disorders of Impaired Social Interactions
NCT03640156	PHASE3	COMPLETED	Modulating Socially Adaptive Mirror System Functioning in Autism by Oxytocin
NCT03715153	PHASE3	TERMINATED	Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children Aged From 2 to Less Than 7 Years Old With Autism Spectrum Disorder.
NCT03715166	PHASE3	TERMINATED	Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children and Adolescents Aged From 7 to Less Than 18 Years Old With Autism Spectrum Disorder
NCT04233502	PHASE3	WITHDRAWN	Efficacy and Safety of Slenyto for Insomnia in Children With ASD
NCT04578756	PHASE3	COMPLETED	Open-Label, Flexible-dose Study to Evaluate the Long-Term Safety and Tolerability of Cariprazine in the Treatment of Pediatric Participants With Schizophrenia, Bipolar I Disorder, or Autism Spectrum Disorder
NCT04623398	PHASE3	COMPLETED	Effect of Lithium in Patients With Autism Spectrum Disorder and Phelan-McDermid Syndrome (SHANK3 Haploinsufficiency)
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