SATB1

Summary

SATB1 (SATB homeobox 1, HGNC:10541) is a protein-coding gene on chromosome 3p24.3, encoding DNA-binding protein SATB1 (Q01826). Crucial silencing factor contributing to the initiation of X inactivation mediated by Xist RNA that occurs during embryogenesis and in lymphoma.

This gene encodes a matrix protein which binds nuclear matrix and scaffold-associating DNAs through a unique nuclear architecture. The protein recruits chromatin-remodeling factors in order to regulate chromatin structure and gene expression.

Source: NCBI Gene 6304 — RefSeq curated summary.

At a glance

• Gene–disease (curated): complex neurodevelopmental disorder (Definitive, ClinGen) — +3 more curated relationships
• GWAS associations: 13
• Clinical variants (ClinVar): 230 total — 18 pathogenic, 17 likely-pathogenic
• Phenotypes (HPO): 88
• Transcription factor: yes — 51 downstream targets (CollecTRI)
• MANE Select transcript: NM_002971

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10541
Approved symbol	SATB1
Name	SATB homeobox 1
Location	3p24.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000182568
Ensembl biotype	protein_coding
OMIM	602075
Entrez	6304

Gene structure

Transcript identifiers

Ensembl transcripts: 36 — 28 protein_coding, 6 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000338745, ENST00000414509, ENST00000415069, ENST00000417717, ENST00000440737, ENST00000444341, ENST00000450898, ENST00000452260, ENST00000454909, ENST00000457005, ENST00000467628, ENST00000475083, ENST00000476178, ENST00000482788, ENST00000487699, ENST00000491519, ENST00000493952, ENST00000606296, ENST00000700177, ENST00000700178, ENST00000700179, ENST00000700180, ENST00000700181, ENST00000866365, ENST00000866366, ENST00000866367, ENST00000866368, ENST00000866369, ENST00000920135, ENST00000920136, ENST00000920137, ENST00000941467, ENST00000941468, ENST00000941469, ENST00000941470, ENST00000941471

RefSeq mRNA: 9 — MANE Select: NM_002971 NM_001131010, NM_001195470, NM_001322871, NM_001322872, NM_001322873, NM_001322874, NM_001322875, NM_001322876, NM_002971

CCDS: CCDS2631, CCDS56242

Canonical transcript exons

ENST00000338745 — 11 exons

Exon	Start	End
ENSE00001298223	18351992	18352195
ENSE00001337002	18378170	18378325
ENSE00001337004	18386399	18386611
ENSE00001337005	18394462	18394916
ENSE00001337007	18397179	18397290
ENSE00001376874	18423627	18425339
ENSE00001918488	18345377	18349682
ENSE00002566511	18420757	18420991
ENSE00003683272	18416902	18417078
ENSE00003737360	18416007	18416133
ENSE00003739152	18415111	18415234

Expression profiles

Bgee: expression breadth ubiquitous, 294 present calls, max score 99.09.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.2208 / max 1510.7095, expressed in 1377 samples.

FANTOM5 promoters (32 alternative TSS)

Promoter ID	TPM avg	Samples expressed
41383	7.5515	1263
41399	4.1921	525
41396	3.2681	283
41397	1.0968	206
41392	1.0135	129
41382	0.8406	322
41404	0.7653	152
41378	0.4095	214
41390	0.3345	104
41386	0.3153	136

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
orbitofrontal cortex	UBERON:0004167	99.09	gold quality
frontal pole	UBERON:0002795	99.00	gold quality
thymus	UBERON:0002370	98.91	gold quality
Brodmann (1909) area 46	UBERON:0006483	98.89	gold quality
parietal lobe	UBERON:0001872	98.71	gold quality
postcentral gyrus	UBERON:0002581	98.65	gold quality
parotid gland	UBERON:0001831	98.53	gold quality
Brodmann (1909) area 10	UBERON:0013541	98.42	gold quality
entorhinal cortex	UBERON:0002728	98.35	gold quality
Brodmann (1909) area 23	UBERON:0013554	98.35	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	98.34	gold quality
CA1 field of hippocampus	UBERON:0003881	98.28	gold quality
gluteal muscle	UBERON:0002000	98.16	gold quality
middle temporal gyrus	UBERON:0002771	98.13	gold quality
olfactory bulb	UBERON:0002264	98.05	gold quality
superior frontal gyrus	UBERON:0002661	98.02	gold quality
substantia nigra pars reticulata	UBERON:0001966	97.91	gold quality
bronchial epithelial cell	CL:0002328	97.81	gold quality
diaphragm	UBERON:0001103	97.76	gold quality
superior surface of tongue	UBERON:0007371	97.73	gold quality
epithelium of bronchus	UBERON:0002031	97.70	gold quality
bronchus	UBERON:0002185	97.67	gold quality
cortical plate	UBERON:0005343	97.61	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	97.57	gold quality
pigmented layer of retina	UBERON:0001782	97.41	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	97.27	gold quality
biceps brachii	UBERON:0001507	97.23	gold quality
corpus epididymis	UBERON:0004359	97.19	gold quality
substantia nigra pars compacta	UBERON:0001965	97.18	gold quality
triceps brachii	UBERON:0001509	97.12	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-CURD-79	yes	1318.82
E-HCAD-8	yes	55.06
E-CURD-112	yes	19.11
E-ANND-3	yes	9.72
E-CURD-122	yes	9.34
E-HCAD-30	no	66.57

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

51 targets.

Target	Regulation
ABL1
ADAM2
AREG	Repression
ATP11C
BCL2	Activation
CCNE1	Repression
CD52	Activation
CD8A	Activation
CD8B	Unknown
CDH1
CDK4	Activation
CDKN1A	Unknown
CEL
CISH
CR2	Unknown
CREBBP
CTNNB1	Unknown
CYBB	Repression
DSP
GATA3	Activation
HAND2
HBE1	Activation
HBG1
HDAC1	Unknown
HSPA6	Repression
IGFBP2	Activation
IL13	Unknown
IL2	Unknown
IL23A	Repression
IL2RA	Unknown

JASPAR motifs

Motif	Name	Family
MA1963.1	SATB1	HD-CUT
MA1963.2	SATB1	HD-CUT

JASPAR matrix evidence (PMIDs): PMID:18187506

Upstream regulators (CollecTRI, top): EZH2, FOXO3, FOXP3, SATB1, TNFAIP3, TP53, TP63

miRNA regulators (miRDB)

253 targeting SATB1, 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-5692A	100.00	74.40	6850
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-340-5P	100.00	72.50	4437
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-3613-3P	100.00	76.36	7965
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-548C-3P	99.99	74.01	7587
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-4282	99.99	75.36	6408
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-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-4803	99.98	71.99	3117

Literature-anchored findings (GeneRIF, showing 40)

• Two strong SATB1 binding sites, located 4.5 kb apart, have been detected in strong matrix attachment regions of the candidate regulatory region of the CD8 gene complex. (PMID:11937547)
• SATB1 targets chromatin remodelling to the IL-2Ralpha (‘interleukin-2 receptor alpha’) gene (PMID:12374985)
• SATB1 makes a complex, mainly with p300, regardless of the presence of DNA; SATB1/p300 complex binding to the 5’ upstream AT-rich region in the bp -115 to bp -106 segment and represses the gp91(phox) promoter activity (PMID:14605447)
• SATB1 family protein expressed in the erythroid progenitor cells may have a role in globin gene expression during early erythroid differentiation. (PMID:15618465)
• SATB1-mediated transcriptional repression is regulated by nuclear matrix binding (PMID:15851481)
• SATB1 N-terminal residues 20-40 represent a novel determinant of nuclear targeting (PMID:15970696)
• SATB1 possesses a DNA-binding mode similar to that of the POU-specific DNA-binding domain, which is known to share structural similarity to the four-helix CUT domain (PMID:16371359)
• SATB1 formed special three-dimensional network distributions during early apoptosis. The distribution change of SATB1 was associated with cleavage of the protein and accompanied by the nuclear architecture collapse. (PMID:16377216)
• Phosphorylation of SATB1 acts as a molecular switch regulating its transcriptional activity in vivo. (PMID:16630892)
• Our studies identify PML and SATB1 as a regulatory complex that governs transcription by orchestrating dynamic chromatin-loop architecture. (PMID:17173041)
• Results show for the first time that forced-expression of SATB1 in K562 cells triggers SPARC up-regulation by binding to a 17bp DNA sequence in the third intron. (PMID:17343824)
• SATB1-mediated assembly of chromatin in T cells may play a role in integration site selection by HIV-1. (PMID:17376900)
• Determination of the crystal structure of the complex of the CUT domain of SATB1 and a matrix attachment region DNA, in which the third helix of the CUT domain deeply enters the major groove of DNA in the B-form. (PMID:17652321)
• SATB1 reprogrammes chromatin organization and the transcription profiles of breast tumours to promote growth and metastasis; this is a new mechanism of tumour progression (PMID:18337816)
• SATB1 has a role in controlling transcription in immune cells during normal cell functions or in assisting in efficient and rapid clearance of nonfunctional or potentially damaging immune cells through its action with SUMO (PMID:18408014)
• SATB1 is a master regulator in the metastasis of breast cancer and, therefore, can be considered as an independent prognostic factor and a potential therapeutic target for breast cancer (PMID:19072498)
• role of SATB1-CtBP1 interaction in the repression and derepression of SATB1 target genes during Wnt signaling in T cells (PMID:19103759)
• The expression of SATB1 mRNA was 13-fold higher in non-small cell lung cancer tissues than in normal lung tissues. (PMID:19304547)
• These results indicate that SATB1 regulates beta-like globin genes at the nuclear level interlaced with chromatin and DNA level, and emphasize the nuclear matrix binding activity of SATB1 to its regulatory function. (PMID:19332023)
• Overexpression and involvement of special AT-rich sequence binding protein 1 in multidrug resistance in human breast carcinoma cells. (PMID:19860849)
• SATB1 orchestrates T(H)2 lineage commitment by mediating Wnt/beta-catenin signalling. (PMID:20126258)
• Data show that regulation of SATB1 sumoylation and caspase cleavage is controlled by SATB1 phosphorylation; specifically, PIAS1 interaction with SATB1 is inhibited by phosphorylation. (PMID:20351170)
• SATB1 expression can be associated with the development and metastasis of bladder urothelial carcinoma. (PMID:20584685)
• In contrast to previous studies, we found that SATB1 expression did not promote breast cancer progression and was not associated with breast cancer outcome. (PMID:20595686)
• overexpression of SATB1 correlated with metastatic potential of human gastric cancer (PMID:20811679)
• use of SATB1 as target or prognostic marker for breast cancer should be viewed with caution and a possible confounding effect of the estrogen receptor status of the tumor should be taken into account when analysing new markers as SATB1. (PMID:20980149)
• SATB1 is a bona fide EZH2 target gene in HeLa cells and the repression of SATB1 by EZH2 may be mediated by trimethylation modification on H3K (PMID:21232178)
• Deficiency in SATB1 expression in Sezary cells plays an important role in Sezary syndrome pathogenesis by causing apoptosis resistance. (PMID:21270445)
• SATB1 and BRMS1 might play an important role in the development and lymph node metastasis of ovarian cancer. (PMID:21355308)
• Loss of special AT-rich binding protein 1 expression is associated with lung cancer. (PMID:21597389)
• We have identified a feed-forward regulatory loop in which FOXP3 suppresses the expression of the oncogene SATB1 (PMID:21743493)
• SATB1 mRNA expression is associated with the postoperative recurrence and metastasis of hepatocellular carcinoma. (PMID:21764697)
• SATB1 may have a role in metastasis of cutaneous malignant melanoma (PMID:21767935)
• Clustering of expression data revealed that 600 out of 19000 genes analysed were significantly upregulated upon overexpression of the PDZ-like domain. (PMID:21799257)
• Repression of the genome organizer SATB1 in regulatory T cells is required for suppressive function and inhibition of effector differentiation. (PMID:21841785)
• SATB1 may play an important role in the progression of human rectal cancer. (PMID:21870058)
• Study provided the gene expression profile of HBV-related HCC and presented differential expression patterns of SATB-1, TM4SF-1 and ST-14 between cancerous and noncancerous tissues in patients with HBV-related HCC. (PMID:22088470)
• The expression of SATB1 was high in human hepatocellular carcinoma tissue and liver cancer cell lines with high metastatic potential. SATB1 promoted cell cycle progression and cell proliferation and prevented apoptosis. (PMID:22583549)
• miR-191 overexpression is sufficient to induce senescence in HEKn cells and that the direct targets, involved in this process, are the Special AT-rich Binding protein 1 (SATB1) and the Cyclin Dependent Kinase 6 (CDK6) mRNAs. (PMID:22683624)
• Studies indicate that the regulation of the activity of SATB1 has a critical role in driving two important differentiation pathways in T cells. (PMID:22710879)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	satb1b	ENSDARG00000062621
mus_musculus	Satb1	ENSMUSG00000023927
rattus_norvegicus	Satb1	ENSRNOG00000012942
drosophila_melanogaster	dve	FBGN0020307
caenorhabditis_elegans		WBGENE00022861

Paralogs (1): SATB2 (ENSG00000119042)

Protein

Protein identifiers

DNA-binding protein SATB1 — Q01826 (reviewed: Q01826)

Alternative names: Special AT-rich sequence-binding protein 1

All UniProt accessions (9): Q01826, A0A1D5RMP0, C9IZC5, C9J3I0, C9J7F3, C9JGL9, C9JLL5, C9JP21, H0YN86

UniProt curated annotations — full annotation on UniProt →

Function. Crucial silencing factor contributing to the initiation of X inactivation mediated by Xist RNA that occurs during embryogenesis and in lymphoma. Binds to DNA at special AT-rich sequences, the consensus SATB1-binding sequence (CSBS), at nuclear matrix- or scaffold-associated regions. Thought to recognize the sugar-phosphate structure of double-stranded DNA. Transcriptional repressor controlling nuclear and viral gene expression in a phosphorylated and acetylated status-dependent manner, by binding to matrix attachment regions (MARs) of DNA and inducing a local chromatin-loop remodeling. Acts as a docking site for several chromatin remodeling enzymes (e.g. PML at the MHC-I locus) and also by recruiting corepressors (HDACs) or coactivators (HATs) directly to promoters and enhancers. Modulates genes that are essential in the maturation of the immune T-cell CD8SP from thymocytes. Required for the switching of fetal globin species, and beta- and gamma-globin genes regulation during erythroid differentiation. Plays a role in chromatin organization and nuclear architecture during apoptosis. Interacts with the unique region (UR) of cytomegalovirus (CMV). Alu-like motifs and SATB1-binding sites provide a unique chromatin context which seems preferentially targeted by the HIV-1 integration machinery. Moreover, HIV-1 Tat may overcome SATB1-mediated repression of IL2 and IL2RA (interleukin) in T-cells by binding to the same domain as HDAC1. Delineates specific epigenetic modifications at target gene loci, directly up-regulating metastasis-associated genes while down-regulating tumor-suppressor genes. Reprograms chromatin organization and the transcription profiles of breast tumors to promote growth and metastasis. Promotes neuronal differentiation of neural stem/progenitor cells in the adult subventricular zone, possibly by positively regulating the expression of NEUROD1.

Subunit / interactions. Interacts with CUX1 (via DNA-binding domains); the interaction inhibits the attachment of both proteins to DNA. Homodimer. Part of the nuclear protein complex gamma-globin promoter and enhancer binding factor (gamma-PE) composed at least of SATB1 and HOXB2. Interaction with CtBP1 when not acetylated stabilizes attachment to DNA and promotes transcription repression. Interacts with PCAF. Interacts with sumoylated PML and HDAC1 via the CMP domain. Interacts also with DYNLT3 and POLR2J2. Binds to EP300. (Microbial infection) Interacts (via the CMP domain) with HIV-1 Tat.

Subcellular location. Nucleus matrix. Nucleus. PML body.

Tissue specificity. Expressed predominantly in thymus.

Post-translational modifications. Sumoylated. Sumoylation promotes cleavage by caspases. Phosphorylated by PKC. Acetylated by PCAF. Phosphorylated form interacts with HDAC1, but unphosphorylated form interacts with PCAF. DNA binding properties are activated by phosphorylation and inactivated by acetylation. In opposition, gene expression is down-regulated by phosphorylation but up-regulated by acetylation. Cleaved at Asp-254 by caspase-3 and caspase-6 during T-cell apoptosis in thymus and during B-cell stimulation. The cleaved forms cannot dimerize and lose transcription regulation function because of impaired DNA and chromatin association.

Disease relevance. Den Hoed-de Boer-Voisin syndrome (DHDBV) [MIM:619229] A disorder characterized by global developmental delay, moderately to severely impaired intellectual development, poor or absent speech, delayed motor skills, and early-onset epilepsy in many patients. Most affected individuals have feeding difficulties, poor overall growth, dysmorphic facial features, and significant dental anomalies resembling amelogenesis imperfecta. More variable features include visual defects, behavioral abnormalities, and non-specific involvement of other organ systems. DHDBV transmission pattern is consistent with autosomal dominant inheritance with incomplete penetrance and variable expressivity. The disease is caused by variants affecting the gene represented in this entry. Developmental delay with dysmorphic facies and dental anomalies (DEFDA) [MIM:619228] A disorder characterized by mild global developmental delay, impaired intellectual development, walking by 2 to 3 years, and slow language acquisition. The severity of the disorder ranges from moderate cognitive deficits to mild learning difficulties or behavioral abnormalities. Most patients have dysmorphic facial features, abnormal dentition and non-specific visual defects. DEFDA transmission pattern is consistent with autosomal dominant inheritance with incomplete penetrance and variable expressivity. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the CUT homeobox family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q01826-1	1	yes
Q01826-2	2

RefSeq proteins (9): NP_001124482, NP_001182399, NP_001309800, NP_001309801, NP_001309802, NP_001309803, NP_001309804, NP_001309805, NP_002962* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001356	HD	Domain
IPR003350	CUT_dom	Domain
IPR009057	Homeodomain-like_sf	Homologous_superfamily
IPR010982	Lambda_DNA-bd_dom_sf	Homologous_superfamily
IPR032355	CUTL	Domain
IPR032392	ULD	Domain
IPR038216	SATB_CUTL_sf	Homologous_superfamily
IPR038224	SATB_ULD_sf	Homologous_superfamily
IPR039673	SATB1/SATB2	Family

Pfam: PF00046, PF02376, PF16534, PF16557

UniProt features (98 total): mutagenesis site 27, sequence variant 20, helix 19, strand 5, region of interest 4, compositionally biased region 3, binding site 3, modified residue 3, DNA-binding region 3, domain 2, short sequence motif 2, cross-link 2, turn 2, chain 1, site 1, splice variant 1

Structure

Experimental structures (PDB)

8 structures.

PDB	Method	Resolution (Å)
3NZL	X-RAY DIFFRACTION	1.2
3TUO	X-RAY DIFFRACTION	1.7
2O4A	X-RAY DIFFRACTION	1.75
6LFF	X-RAY DIFFRACTION	1.79
2O49	X-RAY DIFFRACTION	2
1YSE	SOLUTION NMR
2L1P	SOLUTION NMR
2MW8	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q01826-F1	65.88	0.28

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 (1): 254–255 (cleavage; by caspases)

Ligand- & substrate-binding residues (3): 390; 400–410; 425

Post-translational modifications (5): 136, 185, 637, 51, 744

Mutagenesis-validated functional residues (27):

Position	Phenotype
29	loss of nuclear localization, cytoplasmic.
32	loss of nuclear localization, cytoplasmic.
34	normal nuclear localization.
36	normal nuclear localization.
136	no acetylation.
185	no phosphorylation.
254	casp6-resistant.
373	slightly reduced mar-dna-binding.
380	reduced mar-dna-binding.
384	impaired mar-dna-binding.
395	reduced mar-dna-binding.
402	impaired mar-dna-binding.
403	impaired mar-dna-binding.
406	impaired mar-dna-binding.
410	impaired mar-dna-binding.
411	normal sumoylation.
416	impaired mar-dna-binding.
427	reduced mar-dna-binding.
442	reduced mar-dna-binding.
451	slightly reduced mar-dna-binding.
475	reduced mar-dna-binding.
486	normal sumoylation.
646	reduced interaction with matrix attachment region (mar) dna; when associated with a-648.
648	reduced interaction with matrix attachment region (mar) dna; when associated with a-646.
693–695	reduced interaction with matrix attachment region (mar) dna.

Function

Pathways and Gene Ontology

Reactome pathways

10 pathways

ID	Pathway
R-HSA-111465	Apoptotic cleavage of cellular proteins
R-HSA-4551638	SUMOylation of chromatin organization proteins
R-HSA-9976102	Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells)
R-HSA-109581	Apoptosis
R-HSA-2990846	SUMOylation
R-HSA-3108232	SUMO E3 ligases SUMOylate target proteins
R-HSA-392499	Metabolism of proteins
R-HSA-5357801	Programmed Cell Death
R-HSA-597592	Post-translational protein modification
R-HSA-75153	Apoptotic execution phase

MSigDB gene sets: 667 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, AAGCAAT_MIR137, ZHAN_MULTIPLE_MYELOMA_PR_DN, RORA1_01, XU_GH1_AUTOCRINE_TARGETS_UP, MODULE_45, TGACCTY_ERR1_Q2, TACAATC_MIR508, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, MOLENAAR_TARGETS_OF_CCND1_AND_CDK4_UP, COUP_01, NFKB_Q6, MARTORIATI_MDM4_TARGETS_NEUROEPITHELIUM_DN, ODONNELL_TARGETS_OF_MYC_AND_TFRC_UP, KINSEY_TARGETS_OF_EWSR1_FLII_FUSION_DN

GO Biological Process (4): negative regulation of transcription by RNA polymerase II (GO:0000122), chromatin organization (GO:0006325), chromatin remodeling (GO:0006338), regulation of transcription by RNA polymerase II (GO:0006357)

GO Molecular Function (9): RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), double-stranded DNA binding (GO:0003690), sequence-specific DNA binding (GO:0043565), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), protein binding (GO:0005515)

GO Cellular Component (7): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), nuclear matrix (GO:0016363), nuclear body (GO:0016604), PML body (GO:0016605), nuclear lumen (GO:0031981)

Reactome top-level categories

Rollup of top-8 pathways:

Category	Pathways
Apoptotic execution phase	1
SUMO E3 ligases SUMOylate target proteins	1
Differentiation of T cells	1
Programmed Cell Death	1
Post-translational protein modification	1
SUMOylation	1
Metabolism of proteins	1
Apoptosis	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
cellular anatomical structure	3
regulation of transcription by RNA polymerase II	2
transcription by RNA polymerase II	2
regulation of DNA-templated transcription	2
transcription cis-regulatory region binding	2
DNA binding	2
nuclear lumen	2
negative regulation of DNA-templated transcription	1
cellular component organization	1
chromatin organization	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
negative regulation of transcription by RNA polymerase II	1
DNA-binding transcription factor activity, RNA polymerase II-specific	1
DNA-binding transcription repressor activity	1
nucleic acid binding	1
transcription regulator activity	1
binding	1
chromosome	1
intracellular membrane-bounded organelle	1
nucleoplasm	1
intracellular membraneless organelle	1
nuclear body	1
nucleus	1
intracellular organelle lumen	1

Protein interactions and networks

STRING

1570 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SATB1	HDAC1	Q13547	865
SATB1	GATA3	P23771	693
SATB1	FOXP3	Q9BZS1	655
SATB1	RUNX1	Q01196	641
SATB1	LEF1	Q9UJU2	627
SATB1	SPIB	Q01892	623
SATB1	E9PD41	E9PD41	615
SATB1	A0A3B3IT14	A0A3B3IT14	600
SATB1	FOXP1	Q9H334	600
SATB1	TTC4	O95801	599
SATB1	BACH2	Q9BYV9	592
SATB1	MAF	O75444	591
SATB1	YY1	P25490	589
SATB1	TCF7	P36402	589
SATB1	EP300	Q09472	580

IntAct

102 interactions, top by confidence:

A	B	Type	Score
FOXP1	FOXP2	psi-mi:“MI:0914”(association)	0.910
CTNNB1	SATB1	psi-mi:“MI:0407”(direct interaction)	0.660
CTNNB1	SATB1	psi-mi:“MI:0915”(physical association)	0.660
SATB1	CTNNB1	psi-mi:“MI:0915”(physical association)	0.660
IGF2BP1	IGF2BP3	psi-mi:“MI:0914”(association)	0.640
P4HA3	FAM171A2	psi-mi:“MI:0914”(association)	0.640
QPRT	PIK3C2A	psi-mi:“MI:0914”(association)	0.640
SATB2	SATB1	psi-mi:“MI:0914”(association)	0.640
JUN	NFATC1	psi-mi:“MI:0914”(association)	0.610
SATB1	SUMO1P1	psi-mi:“MI:0915”(physical association)	0.560
SUMO1P1	SATB1	psi-mi:“MI:0915”(physical association)	0.560
SATB1	MEOX2	psi-mi:“MI:0915”(physical association)	0.560
SATB1	SPG21	psi-mi:“MI:0915”(physical association)	0.560
UBE2I	SATB1	psi-mi:“MI:0915”(physical association)	0.550
SATB1	UBE2I	psi-mi:“MI:0915”(physical association)	0.550
FOXP3	FOXP2	psi-mi:“MI:0914”(association)	0.530
SUMO1	SATB1	psi-mi:“MI:0915”(physical association)	0.510
SATB1	SUMO1	psi-mi:“MI:0915”(physical association)	0.510
DYRK1A	SATB1	psi-mi:“MI:0915”(physical association)	0.500
SATB1	H1-5	psi-mi:“MI:0915”(physical association)	0.400
SATB1	CASP6	psi-mi:“MI:0915”(physical association)	0.400
CASP6	SATB1	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (218): SUMO1P1 (Two-hybrid), EP300 (Reconstituted Complex), SATB1 (Affinity Capture-Western), EP300 (Affinity Capture-Western), SATB1 (Biochemical Activity), SATB1 (Biochemical Activity), SATB1 (Biochemical Activity), SATB1 (Affinity Capture-MS), UBE2I (Two-hybrid), SATB1 (Biochemical Activity), CHD3 (Affinity Capture-Western), CHD3 (Co-fractionation), SATB1 (Affinity Capture-MS), SATB1 (Affinity Capture-MS), SATB1 (Affinity Capture-MS)

ESM2 similar proteins: A0JNA8, A2AFR3, A2AWP8, F1LXF1, O15034, O94844, O94967, O95267, P11274, P28028, Q01826, Q08BT5, Q14161, Q14CM0, Q15139, Q3UGM2, Q3UHE1, Q4R4I0, Q5R5M3, Q5VUG0, Q5XIS9, Q60611, Q62101, Q66H91, Q68FF6, Q6NZQ4, Q6PAJ1, Q6PB44, Q6ZW49, Q6ZWH5, Q80U28, Q8BWW9, Q8BZ03, Q8CGF6, Q8TCU6, Q8VDD9, Q8VI24, Q96GD3, Q9BZ71, Q9BZL6

Diamond homologs: Q01826, Q60611, Q86MI0, Q8VI24, Q9UPW6

SIGNOR signaling

10 interactions.

A	Effect	B	Mechanism
SATB1	“down-regulates quantity by repression”	MYC	“transcriptional regulation”
SATB1	“down-regulates quantity by repression”	NUMB	“transcriptional regulation”
SATB1	“up-regulates quantity by expression”	SPARC	“transcriptional regulation”
SATB1	“up-regulates quantity by expression”	IGFBP2	“transcriptional regulation”
SATB1	“up-regulates quantity by expression”	TAF11	“transcriptional regulation”
SATB1	“up-regulates quantity by expression”	CD52	“transcriptional regulation”
SATB1	“down-regulates quantity by repression”	IL23A	“transcriptional regulation”
SATB1	“down-regulates quantity by repression”	AREG	“transcriptional regulation”
SATB1	“down-regulates quantity by repression”	HSPA6	“transcriptional regulation”
SATB1	“down-regulates quantity by repression”	MYB	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 111 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
SUMOylation of transcription factors	5	40.2×	2e-05
SUMOylation of transcription cofactors	7	24.0×	3e-06
SUMOylation of intracellular receptors	5	23.6×	2e-04
Gastrulation	5	18.3×	4e-04
Deactivation of the beta-catenin transactivating complex	5	16.4×	4e-04
Transcriptional and post-translational regulation of MITF-M expression and activity	5	12.6×	2e-03
SUMOylation of chromatin organization proteins	5	11.2×	2e-03
SUMOylation of DNA damage response and repair proteins	5	10.3×	2e-03

GO biological processes:

GO term	Partners	Fold	FDR
protein sumoylation	7	21.8×	4e-06
somitogenesis	6	21.6×	4e-05
anatomical structure morphogenesis	15	20.1×	2e-13
positive regulation of miRNA transcription	6	16.8×	2e-04
negative regulation of neuron differentiation	5	13.1×	2e-03
cartilage development	5	12.1×	3e-03
somatic stem cell population maintenance	5	11.9×	3e-03
animal organ morphogenesis	6	11.1×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	18
Likely pathogenic	17
Uncertain significance	146
Likely benign	21
Benign	7

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1043589	NM_002971.6(SATB1):c.1228C>T (p.Arg410Ter)	Pathogenic
1043592	NM_002971.6(SATB1):c.2080C>T (p.Gln694Ter)	Pathogenic
1043593	NM_002971.6(SATB1):c.1220A>G (p.Glu407Gly)	Pathogenic
1043595	NM_002971.6(SATB1):c.1574A>G (p.Gln525Arg)	Pathogenic
1050816	NM_002971.6(SATB1):c.1219G>C (p.Glu407Gln)	Pathogenic
1335825	NM_002971.6(SATB1):c.1877del (p.Pro626fs)	Pathogenic
1439873	NM_002971.6(SATB1):c.1924C>T (p.Arg642Ter)	Pathogenic
1700168	NM_002971.6(SATB1):c.1876_1978del (p.Pro626fs)	Pathogenic
1711929	NM_002971.6(SATB1):c.1205A>G (p.Gln402Arg)	Pathogenic
2270636	NM_002971.6(SATB1):c.804_806delinsGGGA (p.Asn268fs)	Pathogenic
2572252	NM_002971.6(SATB1):c.962del (p.Leu321fs)	Pathogenic
2664030	NM_002971.6(SATB1):c.1152dup (p.Arg385fs)	Pathogenic
3316201	NM_002971.6(SATB1):c.1237dup (p.Glu413fs)	Pathogenic
4056431	NM_002971.6(SATB1):c.137_156del (p.Gly46fs)	Pathogenic
4071995	NM_002971.6(SATB1):c.1633del (p.Leu545fs)	Pathogenic
4159720	NM_002971.6(SATB1):c.1848_1854del (p.Gln616fs)	Pathogenic
559516	CLCN2, LYS362DEL	Pathogenic
689721	NM_002971.6(SATB1):c.1004_1005del (p.Arg335fs)	Pathogenic
1701860	NM_002971.6(SATB1):c.1782del (p.Gln594fs)	Likely pathogenic
1708508	NM_002971.6(SATB1):c.1280G>A (p.Arg427Gln)	Likely pathogenic
1804038	NM_002971.6(SATB1):c.542C>T (p.Pro181Leu)	Likely pathogenic
2429048	NM_002971.6(SATB1):c.923dup (p.Ser309fs)	Likely pathogenic
2442136	NM_002971.6(SATB1):c.431dup (p.Tyr144Ter)	Likely pathogenic
2500309	NM_002971.6(SATB1):c.2137G>T (p.Glu713Ter)	Likely pathogenic
2578423	NM_002971.6(SATB1):c.1896dup (p.Ser633fs)	Likely pathogenic
2690693	NM_002971.6(SATB1):c.1522C>T (p.Arg508Cys)	Likely pathogenic
3338613	NM_002971.6(SATB1):c.1353C>A (p.Ser451Arg)	Likely pathogenic
3376133	NM_002971.6(SATB1):c.1597C>T (p.Arg533Cys)	Likely pathogenic
4056379	NM_002971.6(SATB1):c.1204C>G (p.Gln402Glu)	Likely pathogenic
4076607	NM_002971.6(SATB1):c.1588G>C (p.Glu530Gln)	Likely pathogenic

SpliceAI

2069 predictions. Top by Δscore:

Variant	Effect	Δscore
3:18349678:TGTTG:T	acceptor_gain	1.0000
3:18349679:GTTG:G	acceptor_gain	1.0000
3:18349680:TTG:T	acceptor_gain	1.0000
3:18349680:TTGC:T	acceptor_loss	1.0000
3:18349681:TG:T	acceptor_gain	1.0000
3:18349681:TGCTG:T	acceptor_loss	1.0000
3:18349683:C:CC	acceptor_gain	1.0000
3:18349683:CT:C	acceptor_loss	1.0000
3:18351987:CGAA:C	donor_loss	1.0000
3:18351990:AC:A	donor_loss	1.0000
3:18352194:CCCT:C	acceptor_gain	1.0000
3:18352195:CCT:C	acceptor_gain	1.0000
3:18352196:C:T	acceptor_gain	1.0000
3:18352197:T:C	acceptor_gain	1.0000
3:18378164:TCTTA:T	donor_loss	1.0000
3:18378165:CTTAC:C	donor_loss	1.0000
3:18378166:TTAC:T	donor_loss	1.0000
3:18378167:TA:T	donor_loss	1.0000
3:18378168:A:AG	donor_loss	1.0000
3:18378169:CCTGG:C	donor_gain	1.0000
3:18386472:T:A	donor_gain	1.0000
3:18386481:T:TA	donor_gain	1.0000
3:18386607:AAGCC:A	acceptor_gain	1.0000
3:18386608:AGCC:A	acceptor_gain	1.0000
3:18386609:GCC:G	acceptor_gain	1.0000
3:18386610:CC:C	acceptor_gain	1.0000
3:18386610:CCC:C	acceptor_gain	1.0000
3:18386611:CC:C	acceptor_gain	1.0000
3:18386612:C:CA	acceptor_loss	1.0000
3:18416002:CTCA:C	donor_loss	1.0000

AlphaMissense

5027 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:18349384:A:G	F693S	1.000
3:18349386:G:C	F692L	1.000
3:18349386:G:T	F692L	1.000
3:18349387:A:G	F692S	1.000
3:18349388:A:G	F692L	1.000
3:18349411:A:G	L684P	1.000
3:18349417:A:G	L682P	1.000
3:18349417:A:T	L682H	1.000
3:18349420:T:G	Q681P	1.000
3:18349424:C:G	A680P	1.000
3:18349427:A:G	S679P	1.000
3:18349429:A:C	L678R	1.000
3:18349429:A:G	L678P	1.000
3:18349429:A:T	L678Q	1.000
3:18349442:C:G	A674P	1.000
3:18349453:G:C	P670R	1.000
3:18349453:G:T	P670H	1.000
3:18349454:G:A	P670S	1.000
3:18349476:G:C	F662L	1.000
3:18349476:G:T	F662L	1.000
3:18349477:A:C	F662C	1.000
3:18349477:A:G	F662S	1.000
3:18349478:A:G	F662L	1.000
3:18349486:A:C	L659R	1.000
3:18349486:A:G	L659P	1.000
3:18349486:A:T	L659H	1.000
3:18352072:A:C	Y567D	1.000
3:18352072:A:G	Y567H	1.000
3:18352083:C:G	R563P	1.000
3:18352084:G:T	R563S	1.000

dbSNP variants (sampled 300 via entrez): RS1000050310 (3:18375292 T>G), RS1000059129 (3:18361701 G>A), RS1000062994 (3:18405415 C>A,G), RS1000072667 (3:18367502 C>T), RS1000127274 (3:18363149 T>A,G), RS1000192977 (3:18409117 T>C), RS1000202091 (3:18387190 C>A,T), RS1000211074 (3:18431304 C>A,T), RS1000244049 (3:18431082 C>T), RS1000372308 (3:18425001 C>G,T), RS1000431160 (3:18411513 C>T), RS1000456944 (3:18369277 G>A), RS1000491425 (3:18380381 C>A,T), RS1000558817 (3:18405579 A>AT), RS1000571103 (3:18398503 G>A)

Disease associations

OMIM: gene MIM:602075 | disease phenotypes: MIM:619228, MIM:619229, MIM:605635

GenCC curated gene-disease

Disease	Classification	Inheritance
complex neurodevelopmental disorder	Definitive	Autosomal dominant
developmental delay with dysmorphic facies and dental anomalies	Strong	Autosomal dominant
neurodevelopmental disorder	Moderate	Autosomal dominant
syndromic intellectual disability	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
complex neurodevelopmental disorder	Definitive	AD

Mondo (7): developmental delay with dysmorphic facies and dental anomalies (MONDO:0030988), Kohlschutter-Tonz syndrome-like (MONDO:0030990), neurodevelopmental disorder (MONDO:0700092), autism spectrum disorder (MONDO:0005258), familial hyperaldosteronism type II (MONDO:0011576), complex neurodevelopmental disorder (MONDO:0100038), syndromic intellectual disability (MONDO:0000508)

Orphanet (2): Familial hyperaldosteronism type II (Orphanet:404), NON RARE IN EUROPE: Autism (Orphanet:106)

HPO phenotypes

88 total (30 of 88 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000010	Recurrent urinary tract infections
HP:0000248	Brachycephaly
HP:0000252	Microcephaly
HP:0000319	Smooth philtrum
HP:0000348	High forehead
HP:0000349	Widow’s peak
HP:0000358	Posteriorly rotated ears
HP:0000494	Downslanted palpebral fissures
HP:0000504	Abnormality of vision
HP:0000540	Hypermetropia
HP:0000574	Thick eyebrow
HP:0000670	Carious teeth
HP:0000684	Delayed eruption of teeth
HP:0000687	Widely spaced teeth
HP:0000705	Amelogenesis imperfecta
HP:0000708	Atypical behavior
HP:0000713	Agitation
HP:0000717	Autism
HP:0000733	Motor stereotypy
HP:0000736	Short attention span
HP:0000750	Delayed speech and language development
HP:0000958	Dry skin
HP:0001197	Abnormality of prenatal development or birth
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001251	Ataxia
HP:0001252	Hypotonia
HP:0001257	Spasticity
HP:0001260	Dysarthria

GWAS associations

13 associations (top):

Study	Trait	p-value
GCST001337_10	Platelet count	3.000000e-11
GCST002407_1	Chronic mucus hypersecretion	4.000000e-06
GCST003485_10	Response to fenofibrate (HDL cholesterol levels)	6.000000e-06
GCST004861_44	Itch intensity from mosquito bite	1.000000e-09
GCST004902_18	Parkinson’s disease	2.000000e-08
GCST005532_4	Sjögren’s syndrome	5.000000e-06
GCST006087_30	Familial lung adenocarcinoma	6.000000e-06
GCST007324_53	Adventurousness	3.000000e-21
GCST007324_91	Adventurousness	6.000000e-09
GCST007325_56	General risk tolerance (MTAG)	3.000000e-22
GCST009325_90	Parkinson’s disease or first degree relation to individual with Parkinson’s disease	6.000000e-13
GCST90011899_57	Aspartate aminotransferase levels	1.000000e-08
GCST90013421_26	Left-handedness	4.000000e-08

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0004309	platelet count
EFO:0005673	chronic mucus hypersecretion
EFO:0007805	HDL cholesterol change measurement
EFO:0008377	mosquito bite reaction itch intensity measurement
EFO:0006953	family history of lung cancer
EFO:0008579	risk-taking behaviour
EFO:0004736	aspartate aminotransferase measurement
EFO:0009902	handedness

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D065886	Neurodevelopmental Disorders	F03.625
C565312	Hyperaldosteronism, Familial, Type II (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression	4
sodium arsenite	affects methylation, decreases expression	3
Benzo(a)pyrene	affects methylation, decreases expression, increases expression	3
entinostat	decreases expression, affects cotreatment	2
Acetaminophen	decreases expression, increases expression	2
Cadmium	decreases expression, increases abundance, increases expression	2
FR900359	affects phosphorylation	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	increases expression	1
geraniol	increases expression	1
sulforaphane	decreases expression, increases methylation	1
butyraldehyde	increases expression	1
potassium chromate(VI)	increases expression	1
4-hydroxy-2-nonenal	decreases expression	1
nickel sulfate	increases expression	1
hydroquinone	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
azoxystrobin	decreases expression	1
CGP 52608	affects binding, increases reaction	1
deguelin	decreases expression	1
fenpyroximate	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
pyrimidifen	decreases expression	1
thifluzamide	decreases expression	1
pyrachlostrobin	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
picoxystrobin	decreases expression	1
(+)-JQ1 compound	increases expression	1

Cellosaurus cell lines

9 cell lines: 5 cancer cell line, 4 embryonic stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_A6B5	SEES3-1V human SATB1, clone1	Embryonic stem cell	Male
CVCL_A6B6	SEES3-1V human SATB1, clone2	Embryonic stem cell	Male
CVCL_A6B7	SEES3-1V human SATB1, clone3	Embryonic stem cell	Male
CVCL_D1YW	Abcam A-549 SATB1 KO	Cancer cell line	Male
CVCL_D2P3	Abcam THP-1 SATB1 KO	Cancer cell line	Male
CVCL_E1FC	Ubigene ZR-75-1 SATB1 KO	Cancer cell line	Female
CVCL_E7GH	H9 NR4A2-eGFP SATB1 KO	Embryonic stem cell	Female
CVCL_TK04	HAP1 SATB1 (-) 1	Cancer cell line	Male
CVCL_XS43	HAP1 SATB1 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

204 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
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
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
NCT06310681	Not specified	COMPLETED	Pilot Testing of a Co-adapted Group Programme for Parents/Carers of Children With Complex Neurodisability
NCT07303049	Not specified	NOT_YET_RECRUITING	Cognitive Benefit of Intensive Rehabilitation Using Rhythmic Music Training in Children With Complex Neurodevelopmental Disorder
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
NCT03148782	Not specified	COMPLETED	Brain Plasticity Underlying Acquisition of New Organizational Skills in Children-R61 Phase
NCT03172104	Not specified	COMPLETED	Neurobehavioural Development of Infants Born <30 Weeks Gestational Age Between Birth and Five Years of Age
NCT03222375	Not specified	RECRUITING	SQUED™ Series 28.1 Home-use and Treatment of Autowave Reverberator of Autism