SIN3A

Summary

SIN3A (SIN3 transcription regulator family member A, HGNC:19353) is a protein-coding gene on chromosome 15q24.2, encoding Paired amphipathic helix protein Sin3a (Q96ST3). Acts as a transcriptional repressor. It is a common-essential gene (DepMap: required in 92.5% of cancer cell lines) and haploinsufficient (ClinGen: sufficient evidence).

The protein encoded by this gene is a transcriptional regulatory protein. It contains paired amphipathic helix (PAH) domains, which are important for protein-protein interactions and may mediate repression by the Mad-Max complex.

Source: NCBI Gene 25942 — RefSeq curated summary.

At a glance

• Gene–disease (curated): SIN3A-related intellectual disability syndrome (Definitive, ClinGen) — +3 more curated relationships
• GWAS associations: 8
• Clinical variants (ClinVar): 801 total — 66 pathogenic, 36 likely-pathogenic
• Phenotypes (HPO): 156
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• Cancer driver (intOGen): loss-of-function (tumor-suppressor-like) across 2 cancer types
• Cancer dependency (DepMap): dependent in 92.5% of screened cell lines (common-essential)
• Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
• Transcription factor: yes — 12 downstream targets (CollecTRI)
• MANE Select transcript: NM_001145358

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19353
Approved symbol	SIN3A
Name	SIN3 transcription regulator family member A
Location	15q24.2
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0700, DKFZP434K2235
Ensembl gene	ENSG00000169375
Ensembl biotype	protein_coding
OMIM	607776
Entrez	25942

Gene structure

Transcript identifiers

Ensembl transcripts: 41 — 33 protein_coding, 4 retained_intron, 4 nonsense_mediated_decay

ENST00000360439, ENST00000394947, ENST00000394949, ENST00000562776, ENST00000564778, ENST00000565264, ENST00000566640, ENST00000567289, ENST00000568190, ENST00000568309, ENST00000568431, ENST00000568919, ENST00000570021, ENST00000570115, ENST00000570124, ENST00000704302, ENST00000704304, ENST00000704305, ENST00000704310, ENST00000704311, ENST00000704312, ENST00000865500, ENST00000865501, ENST00000865502, ENST00000865503, ENST00000865504, ENST00000865505, ENST00000865506, ENST00000924385, ENST00000924386, ENST00000924387, ENST00000924388, ENST00000924389, ENST00000924390, ENST00000924391, ENST00000924392, ENST00000924393, ENST00000924394, ENST00000924395, ENST00000924396, ENST00000962516

RefSeq mRNA: 3 — MANE Select: NM_001145358 NM_001145357, NM_001145358, NM_015477

CCDS: CCDS10279

Canonical transcript exons

ENST00000394947 — 21 exons

Exon	Start	End
ENSE00001161549	75375665	75375872
ENSE00001161558	75380629	75380723
ENSE00001161565	75381613	75381705
ENSE00001161581	75392242	75392815
ENSE00001161590	75394680	75394863
ENSE00001161592	75396258	75396496
ENSE00001161606	75400730	75400940
ENSE00001161615	75384264	75384437
ENSE00001162445	75409836	75409991
ENSE00001162453	75410134	75410286
ENSE00001162460	75411492	75411743
ENSE00001162466	75412763	75413045
ENSE00001162471	75414205	75414311
ENSE00001162487	75407055	75407144
ENSE00001208538	75401852	75401970
ENSE00001208563	75422647	75422823
ENSE00001326532	75430187	75430408
ENSE00001520089	75451423	75451690
ENSE00001780067	75400040	75400156
ENSE00001855552	75369379	75372209
ENSE00003624143	75389652	75389821

Expression profiles

Bgee: expression breadth ubiquitous, 245 present calls, max score 98.51.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 26.6255 / max 280.5447, expressed in 1811 samples.

FANTOM5 promoters (11 alternative TSS)

Promoter ID	TPM avg	Samples expressed
150977	15.3619	1776
150981	6.5265	1717
150975	1.3280	692
150974	1.1951	415
150976	0.9426	596
150980	0.7018	402
150971	0.3265	127
150979	0.1721	60
207592	0.0527	21
150973	0.0130	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	98.51	gold quality
oocyte	CL:0000023	98.03	gold quality
ventricular zone	UBERON:0003053	93.11	gold quality
pancreatic ductal cell	CL:0002079	92.86	gold quality
bone marrow cell	CL:0002092	92.15	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	91.65	gold quality
ganglionic eminence	UBERON:0004023	90.95	gold quality
epithelial cell of pancreas	CL:0000083	90.77	gold quality
calcaneal tendon	UBERON:0003701	90.59	gold quality
oviduct epithelium	UBERON:0004804	90.57	gold quality
ileal mucosa	UBERON:0000331	90.30	gold quality
tibial artery	UBERON:0007610	90.20	gold quality
popliteal artery	UBERON:0002250	90.19	gold quality
skin of leg	UBERON:0001511	89.74	gold quality
endocervix	UBERON:0000458	89.67	gold quality
left ovary	UBERON:0002119	89.65	gold quality
sural nerve	UBERON:0015488	89.65	gold quality
upper arm skin	UBERON:0004263	89.57	gold quality
descending thoracic aorta	UBERON:0002345	89.56	gold quality
skin of abdomen	UBERON:0001416	89.53	gold quality
islet of Langerhans	UBERON:0000006	89.52	gold quality
body of uterus	UBERON:0009853	89.46	gold quality
right ovary	UBERON:0002118	89.44	gold quality
tendon	UBERON:0000043	89.37	gold quality
colonic epithelium	UBERON:0000397	89.30	gold quality
ectocervix	UBERON:0012249	89.21	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	89.19	gold quality
mucosa of stomach	UBERON:0001199	89.17	gold quality
left lobe of thyroid gland	UBERON:0001120	89.06	gold quality
aorta	UBERON:0000947	89.05	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

12 targets.

Target	Regulation
AGT	Repression
E2F1	Repression
FGG	Repression
FOXP3
IFITM1	Activation
IFITM2	Activation
IFITM3	Activation
KLK3	Repression
SOCS3	Repression
STAT3	Repression
TERT	Repression
TGFBR2

Upstream regulators (CollecTRI, top): AR, ARID4A, CEBPB, CTCF, ESR1, FOXK2, MAX, MXD1, NCOR2, NFKB1, RUNX1, SFPQ, SP1, SPI1, TP53, ZBTB17, ZBTB4

miRNA regulators (miRDB)

105 targeting SIN3A, 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-6867-5P	100.00	82.21	3464
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-8087	99.90	69.55	1351
HSA-MIR-4302	99.89	67.94	1187
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-380-3P	99.89	70.18	1978
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-369-3P	99.85	70.52	2264
HSA-MIR-4503	99.85	71.45	1869
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-2052	99.79	69.37	2031
HSA-MIR-3913-5P	99.78	67.26	968

Functional genomics

ClinGen dosage: haploinsufficiency 3 (sufficient evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map DepMap (CRISPR cell-line fitness): dependent in 92.5% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 40)

• HDAC-Sin3A complex regulates LHR Gene transcription (PMID:12091390)
• Menin is important for recruiting an mSin3A-histone deacetylase complex to repress JunD transcriptional activity. (PMID:14559791)
• MeCP2 acts as a corepressor of PU.1 probably due to facilitating complex formation with mSin3A and HDACs. (PMID:14647463)
• transcription corepressor mSin3A interacts with SMN (Survival motor neuron) protein (PMID:14749338)
• Results suggest that SHP mediates recruitment of mSin3A-Swi/Snf to the CYP7A1 promoter, resulting in chromatin remodeling and gene repression. (PMID:15314177)
• p53 antagonizes c-Myb by recruiting mSin3A to down-regulate specific Myb target genes (PMID:15509555)
• Data indicate that T-bet can override repressive epigenetic modification through a T-box half-site and dissociation of the mSin3a corepressor from the promoter. (PMID:15684083)
• SMAR1 regulates cyclin D1 by modification of chromatin through the SIN3/histone deacetylase 1 complex (PMID:16166625)
• Sin3A-mediated deacetylation within the coding regions of active genes is directly linked to the histone methyltransferase activity of Smyd2 (PMID:16805913)
• Repression of p53-mediated transcription by adenovirus E1B 55-kDa does not require corepressor mSin3A and histone deacetylases. (PMID:17209038)
• the attenuated function of SIN3A due to a decreased level of expression may result in epigenetic de-regulation of growth-related genes through histone acetylation, which leads to the tumorigenesis of lung cancer cells. (PMID:17854949)
• PRMT1- dependent methylation of RUNX1 at arginine residues 206 and 210 abrogates its association with SIN3A. (PMID:18316480)
• A novel regulatory signaling mechanism of transcriptional control in which the LHR is derepressed through PKCalpha/ERK-mediated Sp1 phosphorylation, causing the release of HDAC1/mSin3A complex from the promoter. (PMID:18372343)
• These data demonstrate that targeted degradation of NFX1-91 by E6/E6AP dissociates the mSin3A/HDAC complex from the hTERT promoter and induces hTERT transcription. (PMID:18505829)
• Resullts show that SHP and Sin3A play an important role in adamantyl-substituted retinoid-related induction of cellular apoptosis. (PMID:19509248)
• These data support a model of repression wherein actions of ERalpha and Sin3A at the proximal promoter can overcome activating signals at distal or proximal sites and ultimately decrease gene expression. (PMID:19620290)
• disruption of the function of a specific Sin3A/B domain leads to epigenetic reprogramming and derepression of specific subsets of genes in breast cancer cells (PMID:20547842)
• sumoylation of ING2 enhances its binding to the Sin3A/HDAC complex and is required to regulate gene transcriptions (PMID:20676127)
• The study identifies Sin3A as a regulator of gene expression, survival, and growth in ERalpha-positive breast cancer cells. (PMID:20920219)
• Sin3a, HDAC1, and YY1 are co-factors for Gon4l and that Gon4l may function as a platform for the assembly of complexes that regulate gene expression. (PMID:21454521)
• Interplay between SIN3A and STAT3 mediates chromatin conformational changes and GFAP expression during cellular differentiation.( (PMID:21779366)
• Ume6 is a negative regulator of ATG8 transcription, which acts along with a histone deacetylase complex including Sin3 and Rpd3 to regulate Atg8 levels (PMID:22733735)
• The Sin3a complex acts as a context-dependent ISGF3/STAT3 transcriptional switch. (PMID:22783022)
• reducing Sin3A strongly increased the invasive behavior of A549 human lung adenocarcinoma cells; findings show that Sin3A is downregulated in a variety of human tumors (PMID:22890320)
• BIM silencing in anaplastic large cell lymphoma occurs through recruitment of MeCP2 and the SIN3a/histone deacetylase 1/2 corepressor complex. (PMID:23633923)
• EBNA3C binds strongly to BATF/IRF4/SPI1/RUNX3 sites to enhance transcription and recruits RBPJ/Sin3A- and REST/NRSF-repressive complexes to repress p14(ARF) and p16(INK4A) expression (PMID:24344258)
• Bone-marrow-specific deletion of Sin3a, indicated that Sin3a-associated HDAC1/2-activity is essential for hematopoietic stem cell homeostasis. (PMID:24763403)
• SIN3A, generally regarded as a transcriptional repressor, is required for induction of gene transcription by the aryl hydrocarbon receptor. (PMID:25305016)
• Study suggests a lack of association of SIN3A gene sequence variants with azoospermia caused by Sertoli cell-only syndrome in humans. (PMID:25395209)
• Aberrantly expressed miR-210 regulates human U251 glioma cells apoptosis and proliferation partly through directly down-regulating SIN3A protein expression. (PMID:25481483)
• Inherited 15q24 microdeletion syndrome in twins and their father with phenotypic variability (PMID:25527279)
• down regulation of miR-202 increased the expression of its target Mxd1, followed by Mxd1 recruitment to the Sin3A repressor complex and through its dimerization with Max, and increased repression of Myc-Max target proteins. (PMID:25611699)
• protein pairs significantly correlated with an increased risk of death in non-small cell lung cancer: mSin3A with p16, and c-Myc with mSinA (PMID:26118188)
• Two novel translocations leading to the inactivation of RUNX1 and its partners SIN3A and TCF12 in myeloid leukemia. (PMID:26671595)
• Haploinsufficiency of SIN3A causes mild intellectual disability by affecting the development of cortical integrity. (PMID:27399968)
• High mRNA expression of SIN3A/low mRNA expression of SIN3B correlates with longer relapse free survival specifically in patients with triple negative breast cancer. (PMID:27780928)
• the FOXN3-NEAT1-SIN3A complex promotes epithelial-to-mesenchymal transition and invasion of breast cancer cells in vitro as well as dissemination and metastasis of breast cancer in vivo (PMID:28805661)
• Results reveal a prominent role for transcriptional regulator SIN3A (SIN3A) in the transcriptional response to hypoxia, and suggesting a model where modulation of the associated histone deacetylase 1/2 activity, rather than its recruitment, determines the transcriptional output. (PMID:29059365)
• THO interacts with the Sin3A histone deacetylase complex to suppress co-transcriptional R-loops, DNA damage, and replication impairment. Functional analyses show that histone hypo-acetylation prevents accumulation of harmful R-loops and RNA-mediated genomic instability. (PMID:29074626)
• LSD1 coordinates with the SIN3A/HDAC complex in inhibiting a series of genes such as CASP7, TGFB2, CDKN1A(p21), HIF1A, TERT, and MDM2, some of which are oncogenic. (PMID:29741645)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	sin3ab	ENSDARG00000059812
danio_rerio	sin3aa	ENSDARG00000079716
mus_musculus	Sin3a	ENSMUSG00000042557
rattus_norvegicus	Sin3a	ENSRNOG00000032254
drosophila_melanogaster	Sin3A	FBGN0022764
caenorhabditis_elegans	sin-3	WBGENE00004117

Paralogs (1): SIN3B (ENSG00000127511)

Protein

Protein identifiers

Paired amphipathic helix protein Sin3a — Q96ST3 (reviewed: Q96ST3)

Alternative names: Histone deacetylase complex subunit Sin3a, Transcriptional corepressor Sin3a

All UniProt accessions (13): A0A994J4B2, A0A994J4B6, A0A994J7C5, A0A994J7C7, Q96ST3, H3BMA2, H3BNA0, H3BNZ3, H3BP90, H3BQ76, H3BQ88, H3BQL7, H3BT34

UniProt curated annotations — full annotation on UniProt →

Function. Acts as a transcriptional repressor. Corepressor for REST. Interacts with MXI1 to repress MYC responsive genes and antagonize MYC oncogenic activities. Also interacts with MXD1-MAX heterodimers to repress transcription by tethering SIN3A to DNA. Acts cooperatively with OGT to repress transcription in parallel with histone deacetylation. Involved in the control of the circadian rhythms. Required for the transcriptional repression of circadian target genes, such as PER1, mediated by the large PER complex through histone deacetylation. Cooperates with FOXK1 to regulate cell cycle progression probably by repressing cell cycle inhibitor genes expression. Required for cortical neuron differentiation and callosal axon elongation.

Subunit / interactions. Interacts with ARID4B, BRMS1L, HCFC1, HDAC1, HDAC2, MXI1, SAP30L, SAP130, SFPQ and TOPORS. Interacts with OGT (via TPRs 1-6); the interaction mediates transcriptional repression in parallel with histone deacetylase. Interacts with BAZ2A, MXD1, MXD3, MXD4, MBD2, DACH1, NCOR1, NR4A2, REST, RLIM, SAP30, SETDB1, SMYD2, and SUDS3. Interacts with PHF12 in a complex composed of HDAC1, PHF12 and SAP30. Interacts with TET1; the interaction recruits SIN3A to gene promoters. The large PER complex involved in the histone deacetylation is composed of at least HDAC1, PER2, SFPQ and SIN3A. Interacts with KLF11. Interacts with PPHLN1. Found in a complex with YY1, GON4L and HDAC1. Interacts (via PAH2) with FOXK1. Interacts with FOXK2. Found in a complex composed of at least SINHCAF, SIN3A, HDAC1, SAP30, RBBP4, OGT and TET1. Interacts with SINHCAF. Interacts with SPHK2.

Subcellular location. Nucleus. Nucleolus.

Tissue specificity. Expressed in the developing brain, with highest levels of expression detected in the ventricular zone of various cortical regions.

Post-translational modifications. SUMO1 sumoylated by TOPORS. Probably desumoylated by SENP2.

Disease relevance. Witteveen-Kolk syndrome (WITKOS) [MIM:613406] An autosomal dominant syndrome characterized by global developmental delay, mild to severe intellectual disability, and facial dysmorphism. Additional features include short stature, microcephaly, joint hypermotility, and small hands and feet with digital abnormalities. Brain imaging shows dilated ventricles, thin corpus callosum and, in some cases, dysgyria or polymicrogyria. The disease is caused by variants affecting the gene represented in this entry.

RefSeq proteins (3): NP_001138829, NP_001138830, NP_056292 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003822	PAH	Repeat
IPR013194	HDAC_interact_dom	Domain
IPR031693	Sin3_C	Domain
IPR036600	PAH_sf	Homologous_superfamily
IPR039774	Sin3-like	Family

Pfam: PF02671, PF08295, PF16879

UniProt features (52 total): region of interest 12, sequence conflict 12, modified residue 11, compositionally biased region 7, domain 3, cross-link 3, sequence variant 2, chain 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96ST3-F1	69.67	0.26

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 (14): 10, 277, 284, 469, 832, 860, 865, 875, 940, 1089, 1112, 122, 134, 563

Function

Pathways and Gene Ontology

Reactome pathways

43 pathways

ID	Pathway
R-HSA-3899300	SUMOylation of transcription cofactors
R-HSA-400206	Regulation of lipid metabolism by PPARalpha
R-HSA-427413	NoRC negatively regulates rRNA expression
R-HSA-8936459	RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
R-HSA-9022538	Loss of MECP2 binding ability to 5mC-DNA
R-HSA-9022692	Regulation of MECP2 expression and activity
R-HSA-9022699	MECP2 regulates neuronal receptors and channels
R-HSA-9022702	MECP2 regulates transcription of neuronal ligands
R-HSA-9615017	FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes
R-HSA-9701898	STAT3 nuclear events downstream of ALK signaling
R-HSA-9707564	Cytoprotection by HMOX1
R-HSA-9824594	Regulation of MITF-M-dependent genes involved in apoptosis
R-HSA-9825892	Regulation of MITF-M-dependent genes involved in cell cycle and proliferation
R-HSA-983231	Factors involved in megakaryocyte development and platelet production
R-HSA-109582	Hemostasis
R-HSA-1266738	Developmental Biology
R-HSA-1430728	Metabolism
R-HSA-162582	Signal Transduction
R-HSA-1643685	Disease
R-HSA-201556	Signaling by ALK
R-HSA-212165	Epigenetic regulation of gene expression
R-HSA-212436	Generic Transcription Pathway
R-HSA-2262752	Cellular responses to stress
R-HSA-2990846	SUMOylation
R-HSA-3108232	SUMO E3 ligases SUMOylate target proteins
R-HSA-392499	Metabolism of proteins
R-HSA-5250941	Negative epigenetic regulation of rRNA expression
R-HSA-556833	Metabolism of lipids
R-HSA-597592	Post-translational protein modification
R-HSA-73857	RNA Polymerase II Transcription

MSigDB gene sets: 686 (showing top): GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_DN, GOBP_CIRCADIAN_RHYTHM, PID_HDAC_CLASSI_PATHWAY, RNGTGGGC_UNKNOWN, CREL_01, GOBP_HEMATOPOIETIC_PROGENITOR_CELL_DIFFERENTIATION, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, FREAC2_01, PID_TELOMERASE_PATHWAY, GOBP_NEURON_PROJECTION_EXTENSION, GCM_GSPT1, GOBP_REGULATION_OF_DEFENSE_RESPONSE_TO_VIRUS, GOBP_RESPONSE_TO_PEPTIDE

GO Biological Process (30): negative regulation of transcription by RNA polymerase II (GO:0000122), in utero embryonic development (GO:0001701), activation of innate immune response (GO:0002218), positive regulation of defense response to virus by host (GO:0002230), hematopoietic progenitor cell differentiation (GO:0002244), DNA replication (GO:0006260), intracellular protein localization (GO:0008104), regulation of hormone levels (GO:0010817), positive regulation of G2/M transition of mitotic cell cycle (GO:0010971), cerebral cortex neuron differentiation (GO:0021895), negative regulation of cell migration (GO:0030336), negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512), regulation of axon extension (GO:0030516), heterochromatin formation (GO:0031507), negative regulation of circadian rhythm (GO:0042754), negative regulation of apoptotic process (GO:0043066), positive regulation of neuron differentiation (GO:0045666), negative regulation of DNA-templated transcription (GO:0045892), rhythmic process (GO:0048511), response to methylglyoxal (GO:0051595), type I interferon-mediated signaling pathway (GO:0060337), cellular response to glucose stimulus (GO:0071333), cellular response to tert-butyl hydroperoxide (GO:0072736), negative regulation of protein localization to nucleus (GO:1900181), negative regulation of stem cell population maintenance (GO:1902455), positive regulation of stem cell population maintenance (GO:1902459), cellular response to dopamine (GO:1903351), regulation of DNA-templated transcription (GO:0006355), regulation of gene expression (GO:0010468), negative regulation of macromolecule biosynthetic process (GO:0010558)

GO Molecular Function (8): DNA binding (GO:0003677), chromatin binding (GO:0003682), transcription corepressor activity (GO:0003714), RNA binding (GO:0003723), protein-containing complex binding (GO:0044877), RNA polymerase II-specific DNA-binding transcription factor binding (GO:0061629), transcription regulator inhibitor activity (GO:0140416), protein binding (GO:0005515)

GO Cellular Component (11): histone deacetylase complex (GO:0000118), kinetochore (GO:0000776), chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), transcription repressor complex (GO:0017053), Sin3-type complex (GO:0070822), transcription regulator complex (GO:0005667), chromosome (GO:0005694), protein-containing complex (GO:0032991)

Reactome top-level categories

Rollup of top-12 pathways:

Category	Pathways
Transcriptional Regulation by MECP2	3
MITF-M-dependent gene expression	2
SUMO E3 ligases SUMOylate target proteins	1
Metabolism of lipids	1
Negative epigenetic regulation of rRNA expression	1
Transcriptional regulation by RUNX1	1
Loss of function of MECP2 in Rett syndrome	1
FOXO-mediated transcription	1
Signaling by ALK	1
Cellular response to chemical stress	1
Hemostasis	1
Signaling by Receptor Tyrosine Kinases	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	3
intracellular membraneless organelle	3
negative regulation of DNA-templated transcription	2
nucleic acid binding	2
cellular anatomical structure	2
nuclear lumen	2
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
chordate embryonic development	1
activation of immune response	1
positive regulation of innate immune response	1
regulation of defense response to virus by host	1
hemopoiesis	1
cell differentiation	1
DNA metabolic process	1
DNA biosynthetic process	1
macromolecule localization	1
regulation of biological quality	1
G2/M transition of mitotic cell cycle	1
regulation of G2/M transition of mitotic cell cycle	1
positive regulation of mitotic cell cycle phase transition	1
positive regulation of cell cycle G2/M phase transition	1
forebrain neuron differentiation	1
cell migration	1
regulation of cell migration	1
negative regulation of cell motility	1
transforming growth factor beta receptor signaling pathway	1
regulation of transforming growth factor beta receptor signaling pathway	1
negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway	1
regulation of developmental growth	1
axon extension	1
regulation of extent of cell growth	1
cellular component assembly	1
heterochromatin boundary formation	1
negative regulation of gene expression, epigenetic	1
heterochromatin organization	1
circadian rhythm	1
regulation of circadian rhythm	1
negative regulation of biological process	1
apoptotic process	1

Protein interactions and networks

STRING

3664 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SIN3A	SAP30	O75446	998
SIN3A	HDAC1	Q13547	998
SIN3A	MECP2	P51608	997
SIN3A	HDAC2	Q92769	997
SIN3A	RCOR1	Q9UKL0	995
SIN3A	NCOR1	O75376	995
SIN3A	RBBP4	P31149	995
SIN3A	SUDS3	Q9H7L9	994
SIN3A	SAP18	O00422	991
SIN3A	NCOR2	Q9Y618	990
SIN3A	RBBP7	Q16576	988
SIN3A	FOXN3	O00409	953
SIN3A	ARID4B	Q4LE39	937
SIN3A	SIN3B	O75182	927
SIN3A	ING2	Q9H160	926
SIN3A	KDM1A	O60341	926

IntAct

212 interactions, top by confidence:

A	B	Type	Score
NCOR2	HDAC3	psi-mi:“MI:0915”(physical association)	0.950
HDAC1	SIN3A	psi-mi:“MI:0915”(physical association)	0.930
HDAC1	RBBP4	psi-mi:“MI:0914”(association)	0.920
HDAC1	KDM1A	psi-mi:“MI:0914”(association)	0.910
HDAC2	KDM1A	psi-mi:“MI:0914”(association)	0.890
HDAC2	SIN3A	psi-mi:“MI:0915”(physical association)	0.880
SIN3A	HDAC2	psi-mi:“MI:0407”(direct interaction)	0.880
HDAC1	CDK2AP1	psi-mi:“MI:0914”(association)	0.840
RBBP7	CDK2AP1	psi-mi:“MI:0914”(association)	0.840
RBBP4	CDK2AP1	psi-mi:“MI:0914”(association)	0.790
SIN3A	RBBP4	psi-mi:“MI:0914”(association)	0.790
RBBP7	HAT1	psi-mi:“MI:0914”(association)	0.730
HDAC1	ZNF609	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
HTT	SIN3A	psi-mi:“MI:0915”(physical association)	0.680
SIN3A	HTT	psi-mi:“MI:0915”(physical association)	0.680
ING2	SIN3A	psi-mi:“MI:0915”(physical association)	0.670
SKI	NCOR1	psi-mi:“MI:0914”(association)	0.670
FOXK2	DVL2	psi-mi:“MI:0914”(association)	0.640
SINHCAF	TNRC18	psi-mi:“MI:0914”(association)	0.640

BioGRID (790): SIN3A (Affinity Capture-Western), SIN3A (Affinity Capture-Western), CUL4B (Affinity Capture-Western), DDB1 (Affinity Capture-Western), SIN3A (Reconstituted Complex), SIN3A (Reconstituted Complex), SIN3A (Co-fractionation), SIN3A (Affinity Capture-Western), SIN3A (Affinity Capture-Western), SIN3A (Affinity Capture-RNA), BRMS1 (Affinity Capture-Western), SIN3A (Affinity Capture-Western), BRMS1 (Affinity Capture-Western), SIN3A (Affinity Capture-Western), SIN3A (Protein-peptide)

ESM2 similar proteins: A1A4Q8, A2RSY1, A4IHD9, A4IIZ9, A8E5U3, B5DF93, F4HPA7, O57595, P68943, Q03297, Q08BU1, Q08D01, Q0IHI6, Q24767, Q2QCI8, Q2TBN4, Q2YDF2, Q3TC46, Q499B3, Q4VCS5, Q5HZZ6, Q5PPY2, Q5R8Q4, Q5RBZ4, Q5RKN3, Q60520, Q62415, Q66KX4, Q6DD30, Q6GP15, Q6NYT1, Q6PC45, Q6PEH8, Q71SY5, Q7KW14, Q86TB9, Q8BG30, Q8JHI6, Q8VCB2, Q8VHG2

Diamond homologs: O04539, O13919, O48686, O75182, Q60520, Q62141, Q96ST3, Q9LFQ3, Q9SRH9, Q9SZ67, Q9XIE1, Q9XIK6, A5JYW9, O74755, P22579, Q09750

SIGNOR signaling

11 interactions.

A	Effect	B	Mechanism
NFX1	“up-regulates activity”	SIN3A	binding
SIN3A	“down-regulates quantity by repression”	TERT	“transcriptional regulation”
PHF12	“up-regulates activity”	SIN3A	binding
SIN3A	“form complex”	“MECP2/SIN3A/HDAC complex”	binding
MiR-210	“down-regulates quantity by destabilization”	SIN3A	“post transcriptional regulation”
KLF11	“up-regulates activity”	SIN3A	binding
KLF10	“up-regulates activity”	SIN3A	binding
KLF9	“up-regulates activity”	SIN3A	binding
KLF13	“up-regulates activity”	SIN3A	binding
KLF16	“up-regulates activity”	SIN3A	binding
SIN3A	“down-regulates quantity by repression”	KLK3	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 180 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
Regulation of TP53 Activity through Acetylation	7	26.4×	3e-07
Regulation of MECP2 expression and activity	8	24.4×	1e-07
Notch-HLH transcription pathway	6	20.2×	2e-05
Transcriptional regulation of brown and beige adipocyte differentiation by EBF2	6	18.9×	2e-05
Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer	6	18.3×	2e-05
Downregulation of SMAD2/3:SMAD4 transcriptional activity	6	18.3×	2e-05
HDACs deacetylate histones	15	14.9×	4e-11
Regulation of PTEN gene transcription	10	14.8×	1e-07

GO biological processes:

GO term	Partners	Fold	FDR
negative regulation of stem cell population maintenance	11	52.0×	2e-14
regulation of stem cell differentiation	7	33.1×	2e-07
positive regulation of stem cell population maintenance	11	23.4×	3e-10
negative regulation of transforming growth factor beta receptor signaling pathway	13	13.9×	2e-09
positive regulation of epithelial to mesenchymal transition	5	9.8×	9e-03
heterochromatin formation	6	9.5×	3e-03
negative regulation of cell migration	13	9.0×	3e-07
double-strand break repair	7	8.8×	1e-03

Disease & clinical

Cancer significance

From intOGen — cancer-driver classification: loss-of-function (tumor-suppressor-like) across 2 cancer types — BL, NHL.

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	66
Likely pathogenic	36
Uncertain significance	368
Likely benign	245
Benign	25

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1031165	NM_001145358.2(SIN3A):c.1229del (p.Lys410fs)	Pathogenic
1031167	NM_001145358.2(SIN3A):c.2258_2259dup (p.Glu754fs)	Pathogenic
1065454	NM_001145358.2(SIN3A):c.1015C>T (p.Gln339Ter)	Pathogenic
1098357	NM_001145358.2(SIN3A):c.2534del (p.Asp845fs)	Pathogenic
1329579	NM_001145358.2(SIN3A):c.23_24del (p.Gln8fs)	Pathogenic
1455359	NC_000015.9:g.(?75664320)(75722716_?)del	Pathogenic
1700222	NM_001145358.2(SIN3A):c.349C>T (p.Gln117Ter)	Pathogenic
1700788	NM_001145358.2(SIN3A):c.366+1G>T	Pathogenic
1709753	NM_001145358.2(SIN3A):c.172_173del (p.Val58fs)	Pathogenic
1805544	NM_001145358.2(SIN3A):c.1411C>T (p.Arg471Ter)	Pathogenic
2441706	NM_001145358.2(SIN3A):c.2506G>T (p.Glu836Ter)	Pathogenic
2498622	NM_001145358.2(SIN3A):c.3025C>T (p.Gln1009Ter)	Pathogenic
2504096	NM_001145358.2(SIN3A):c.3384dup	Pathogenic
2527586	NM_001145358.2(SIN3A):c.3314dup (p.Tyr1105Ter)	Pathogenic
253070	NM_001145358.2(SIN3A):c.803dup (p.Leu269fs)	Pathogenic
253071	NC_000015.10:g.75410285_75410288del	Pathogenic
253072	NM_001145358.2(SIN3A):c.1759del (p.Ser587fs)	Pathogenic
253074	NM_001145358.2(SIN3A):c.3310C>T (p.Arg1104Ter)	Pathogenic
2579879	NM_001145358.2(SIN3A):c.1773G>A (p.Trp591Ter)	Pathogenic
2616550	NM_001145358.2(SIN3A):c.1363del (p.Ala455fs)	Pathogenic
2702272	NM_001145358.2(SIN3A):c.1509dup (p.Val504fs)	Pathogenic
2811769	NM_001145358.2(SIN3A):c.1519_1523del (p.Phe507fs)	Pathogenic
2864062	NM_001145358.2(SIN3A):c.1138del (p.Leu380fs)	Pathogenic
3162312	NM_001145358.2(SIN3A):c.2937T>A (p.Tyr979Ter)	Pathogenic
3162314	NM_001145358.2(SIN3A):c.3481_3482delinsT (p.Ser1161fs)	Pathogenic
3234067	NM_001145358.2(SIN3A):c.1810C>T (p.Gln604Ter)	Pathogenic
3239193	NM_001145358.2(SIN3A):c.1006C>T (p.Gln336Ter)	Pathogenic
3255060	NM_001145358.2(SIN3A):c.965dup (p.Asp323fs)	Pathogenic
3255061	NM_001145358.2(SIN3A):c.1017_1021del (p.Arg340fs)	Pathogenic
3337210	NM_001145358.2:c.474-574_1408-735dup	Pathogenic

SpliceAI

3583 predictions. Top by Δscore:

Variant	Effect	Δscore
15:75372205:TGGGA:T	acceptor_gain	1.0000
15:75372206:GGGA:G	acceptor_gain	1.0000
15:75372208:GA:G	acceptor_gain	1.0000
15:75372210:C:CC	acceptor_gain	1.0000
15:75375660:CTCA:C	donor_loss	1.0000
15:75375661:TCACC:T	donor_loss	1.0000
15:75375662:CACC:C	donor_loss	1.0000
15:75375663:A:AC	donor_gain	1.0000
15:75375663:A:T	donor_loss	1.0000
15:75375664:C:CC	donor_gain	1.0000
15:75375873:C:CC	acceptor_gain	1.0000
15:75380625:TCACC:T	donor_loss	1.0000
15:75380626:CACCT:C	donor_loss	1.0000
15:75380719:CAGCG:C	acceptor_gain	1.0000
15:75380720:AGCG:A	acceptor_gain	1.0000
15:75380721:GCG:G	acceptor_gain	1.0000
15:75380721:GCGC:G	acceptor_loss	1.0000
15:75380722:CG:C	acceptor_gain	1.0000
15:75380722:CGC:C	acceptor_gain	1.0000
15:75380724:C:CC	acceptor_gain	1.0000
15:75380724:CTAAG:C	acceptor_loss	1.0000
15:75380725:T:G	acceptor_loss	1.0000
15:75380729:A:C	acceptor_gain	1.0000
15:75384260:TCAC:T	donor_loss	1.0000
15:75384261:CA:C	donor_loss	1.0000
15:75384262:A:C	donor_loss	1.0000
15:75384263:C:CA	donor_loss	1.0000
15:75384280:T:C	donor_gain	1.0000
15:75384290:G:C	donor_gain	1.0000
15:75384298:G:C	donor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000000368 (15:75371788 G>A,T), RS1000016845 (15:75419647 C>A,G), RS1000078293 (15:75425897 GA>G), RS1000113239 (15:75371753 A>ACC), RS1000187971 (15:75421411 T>C), RS1000191505 (15:75440619 C>T), RS1000199250 (15:75404245 C>T), RS1000288152 (15:75378714 A>G), RS1000295313 (15:75426925 G>A), RS1000316808 (15:75401547 A>C,G), RS1000334174 (15:75390013 G>C), RS1000335607 (15:75397634 C>G,T), RS1000373946 (15:75437997 C>A,T), RS1000440782 (15:75432669 G>A,T), RS1000454794 (15:75430035 C>T)

Disease associations

OMIM: gene MIM:607776 | disease phenotypes: MIM:613406

GenCC curated gene-disease

Disease	Classification	Inheritance
SIN3A-related intellectual disability syndrome	Definitive	Autosomal dominant
chromosome 15q24 deletion syndrome	Strong	Autosomal dominant
SIN3A-related intellectual disability syndrome due to a point mutation	Supportive	Autosomal dominant
congenital diaphragmatic hernia	Limited	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
SIN3A-related intellectual disability syndrome	Definitive	AD

Mondo (6): SIN3A-related intellectual disability syndrome due to a point mutation (MONDO:0044700), neurodevelopmental disorder (MONDO:0700092), intellectual disability (MONDO:0001071), SIN3A-related intellectual disability syndrome (MONDO:0044699), chromosome 15q24 deletion syndrome (MONDO:0013256), congenital diaphragmatic hernia (MONDO:0005711)

Orphanet (5): SIN3-related intellectual disability syndrome due to a point mutation (Orphanet:500166), 15q24 microdeletion syndrome (Orphanet:94065), Witteveen-Kolk syndrome (Orphanet:500163), Rare genetic intellectual disability (Orphanet:183757), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

156 total (30 of 156 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000023	Inguinal hernia
HP:0000028	Cryptorchidism
HP:0000047	Hypospadias
HP:0000160	Narrow mouth
HP:0000164	Abnormality of the dentition
HP:0000174	Abnormal palate morphology
HP:0000179	Thick lower lip vermilion
HP:0000194	Open mouth
HP:0000218	High palate
HP:0000219	Thin upper lip vermilion
HP:0000252	Microcephaly
HP:0000275	Narrow face
HP:0000276	Long face
HP:0000286	Epicanthus
HP:0000307	Pointed chin
HP:0000308	Microretrognathia
HP:0000316	Hypertelorism
HP:0000319	Smooth philtrum
HP:0000322	Short philtrum
HP:0000324	Facial asymmetry
HP:0000325	Triangular face
HP:0000337	Broad forehead
HP:0000343	Long philtrum
HP:0000348	High forehead
HP:0000356	Abnormality of the outer ear
HP:0000365	Hearing impairment
HP:0000378	Cupped ear
HP:0000391	Thickened helices
HP:0000400	Macrotia

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST000611_16	Height	8.000000e-08
GCST001099_12	Sudden cardiac arrest	3.000000e-06
GCST008058_78	Estimated glomerular filtration rate	2.000000e-23
GCST008059_96	Estimated glomerular filtration rate	5.000000e-19
GCST010118_107	Type 2 diabetes	2.000000e-11
GCST011124_7	Caffeine consumption from tea	3.000000e-102
GCST90002395_178	Mean platelet volume	9.000000e-16
GCST90002401_100	Platelet distribution width	7.000000e-13

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004278	sudden cardiac arrest
EFO:0010091	tea consumption measurement
EFO:0007984	platelet component distribution width

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D065630	Hernias, Diaphragmatic, Congenital	C16.131.433; C23.300.707.960.500.116
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D065886	Neurodevelopmental Disorders	F03.625
C579849	15q24 Microdeletion (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL5465264 (SINGLE PROTEIN), CHEMBL6195592 (PROTEIN-PROTEIN INTERACTION)

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)

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs7166737	SIN3A		0.00	0

ChEMBL bioactivities

2 potent at pChembl≥5 of 4 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.17	Kd	67	nM	MOLIBRESIB
6.96	IC50	110	nM	MOLIBRESIB

PubChem BioAssay actives

2 with measured affinity, of 21 total; 1 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
2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide	2179109: Binding affinity against SIN3A (unknown origin) assessed as apparent dissociation constant incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	kd	0.0670	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol F	increases expression, affects cotreatment, decreases methylation	2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment, increases expression	2
Benzo(a)pyrene	affects binding, increases reaction, decreases methylation	2
Carbamazepine	affects expression	2
Ivermectin	affects binding, decreases reaction, decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Quercetin	decreases phosphorylation, decreases expression	2
Tretinoin	affects binding, decreases reaction, decreases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	affects expression, decreases expression	2
Cadmium Chloride	decreases expression, increases abundance	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
Batroxase, Bothrops atrox	increases expression	1
methylmercuric chloride	increases expression	1
triphenyl phosphate	affects expression	1
lead acetate	decreases expression	1
potassium perchlorate	decreases expression	1
cobaltous chloride	decreases expression, increases expression	1
perfluorooctanoic acid	decreases expression	1
ochratoxin A	decreases expression	1
coumarin	affects phosphorylation	1
beta-methylcholine	affects expression	1
CGP 52608	affects binding, increases reaction	1
1,25-dihydroxyvitamin D	affects binding, decreases reaction	1
selamectin	affects binding, decreases reaction	1
dorsomorphin	affects cotreatment, decreases expression	1
bisphenol S	increases methylation	1
LDN 193189	affects cotreatment, increases expression	1
Decitabine	affects binding, decreases reaction	1
Arsenic Trioxide	affects methylation	1

ChEMBL screening assays

19 unique, capped per target: 19 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5359377	Binding	Induction of SIN3A degradation in human HCT-116 cells assessed as reduction in SIN3A abundance by measuring remaining activity at 10 uM measured after 24 hrs by Western blot analysis (Rvb = 100%)	MDM2 Antagonist Idasanutlin Reduces HDAC1/2 Abundance and Corepressor Partners but Not HDAC3. — ACS Med Chem Lett

Cellosaurus cell lines

6 cell lines: 3 embryonic stem cell, 3 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_A6D3	SEES3-1V human SIN3A, clone1	Embryonic stem cell	Male
CVCL_A6D4	SEES3-1V human SIN3A, clone2	Embryonic stem cell	Male
CVCL_A6D5	SEES3-1V human SIN3A, clone3	Embryonic stem cell	Male
CVCL_TL19	HAP1 SIN3A (-) 1	Cancer cell line	Male
CVCL_TL20	HAP1 SIN3A (-) 2	Cancer cell line	Male
CVCL_TL21	HAP1 SIN3A (-) 3	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05213676	PHASE4	RECRUITING	De-implementing Inhaled Nitric Oxide for Congenital Diaphragmatic Hernia
NCT07247240	PHASE4	NOT_YET_RECRUITING	Efficacy of Inhaled Nitric Oxide in Congenital Diaphragmatic Hernia
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,
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
NCT00257946	PHASE3	TERMINATED	Type of Material in Repair of Congenital Diaphragmatic Hernia
NCT03861182	PHASE3	TERMINATED	Contribution of PRF in CDH in Children With Prothetic Patch Closure
NCT06946576	PHASE3	NOT_YET_RECRUITING	Safety and Efficacy of Fetoscopic Endoluminal Tracheal Occlusion in Congenital Diaphragmatic Hernia
NCT07187206	PHASE3	RECRUITING	Safety and Efficacy of FETO in CDH Phase III
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
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
NCT00373438	PHASE2	UNKNOWN	Fetoscopic Tracheal Balloon Occlusion in Left Diaphragmatic Hernia
NCT00966823	PHASE2	TERMINATED	Fetal Tracheal Balloon Study in Diaphragmatic Hernia
NCT01302977	PHASE2	UNKNOWN	Fetal Tracheal Occlusion in Severe Diaphragmatic Hernia: a Randomized Trial
NCT01731509	PHASE2	UNKNOWN	Early FETO for Severe Congenital Diaphragmatic Hernia
NCT02875860	PHASE2	COMPLETED	‘TOTAL’ (Tracheal Occlusion To Accelerate Lung Growth) Trial
NCT02951130	PHASE2	COMPLETED	Milrinone in Congenital Diaphragmatic Hernia
NCT05201144	PHASE2	RECRUITING	A Trial of Phosphodiesterase-5 Inhibitor in Neonatal Congenital Diaphragmatic Hernia (TOP-CDH)
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
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
NCT03526588	PHASE1	TERMINATED	Umbilical Cord Blood Mononuclear Cells for Hypoxic Neurologic Injury in Infants With Congenital Diaphragmatic Hernia (CDH)
NCT00503191	PHASE1	COMPLETED	NeuroModulation Technique Treatment of Autism
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