SATB2

Summary

SATB2 (SATB homeobox 2, HGNC:21637) is a protein-coding gene on chromosome 2q33.1, encoding DNA-binding protein SATB2 (Q9UPW6). Binds to DNA, at nuclear matrix- or scaffold-associated regions. It is haploinsufficient (ClinGen: sufficient evidence).

This gene encodes a DNA binding protein that specifically binds nuclear matrix attachment regions. The encoded protein is involved in transcription regulation and chromatin remodeling. Defects in this gene are associated with isolated cleft palate and cognitive disability. Alternate splicing results in multiple transcript variants that encode the same protein.

Source: NCBI Gene 23314 — RefSeq curated summary.

At a glance

• Gene–disease (curated): SATB2 associated disorder (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 30
• Clinical variants (ClinVar): 765 total — 121 pathogenic, 59 likely-pathogenic
• Phenotypes (HPO): 151
• Druggable target: yes
• Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
• Transcription factor: yes — 34 downstream targets (CollecTRI)
• MANE Select transcript: NM_001172509

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21637
Approved symbol	SATB2
Name	SATB homeobox 2
Location	2q33.1
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1034, FLJ21474
Ensembl gene	ENSG00000119042
Ensembl biotype	protein_coding
OMIM	608148
Entrez	23314

Gene structure

Transcript identifiers

Ensembl transcripts: 36 — 27 protein_coding, 5 protein_coding_CDS_not_defined, 3 retained_intron, 1 nonsense_mediated_decay

ENST00000260926, ENST00000417098, ENST00000428695, ENST00000440919, ENST00000443023, ENST00000457245, ENST00000463386, ENST00000473517, ENST00000483346, ENST00000484124, ENST00000700191, ENST00000700192, ENST00000700193, ENST00000700194, ENST00000700207, ENST00000700208, ENST00000700209, ENST00000700210, ENST00000908772, ENST00000908773, ENST00000908774, ENST00000908775, ENST00000908776, ENST00000908777, ENST00000908778, ENST00000908779, ENST00000908780, ENST00000908781, ENST00000908782, ENST00000930191, ENST00000930192, ENST00000962919, ENST00000962920, ENST00000962921, ENST00000962922, ENST00000962923

RefSeq mRNA: 3 — MANE Select: NM_001172509 NM_001172509, NM_001172517, NM_015265

CCDS: CCDS2327

Canonical transcript exons

ENST00000417098 — 11 exons

Exon	Start	End
ENSE00000934543	199308760	199308957
ENSE00000934547	199328698	199328910
ENSE00000934548	199348701	199349173
ENSE00000934553	199368605	199368707
ENSE00000964856	199433338	199433514
ENSE00001740075	199457339	199457939
ENSE00002264469	199455869	199456096
ENSE00003480091	199381694	199381820
ENSE00003496880	199323803	199323958
ENSE00003639980	199380364	199380487
ENSE00003845966	199269505	199272672

Expression profiles

Bgee: expression breadth ubiquitous, 235 present calls, max score 99.11.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.1411 / max 919.4028, expressed in 1205 samples.

FANTOM5 promoters (20 alternative TSS)

Promoter ID	TPM avg	Samples expressed
33129	6.3025	740
33134	4.6661	994
33125	1.3406	210
33122	0.8638	190
33131	0.7958	118
33126	0.7759	209
33141	0.4270	119
33130	0.4034	112
33112	0.3735	125
33132	0.3015	161

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
periodontal ligament	UBERON:0008266	99.11	gold quality
cortical plate	UBERON:0005343	98.05	gold quality
mucosa of sigmoid colon	UBERON:0004993	97.72	gold quality
colonic mucosa	UBERON:0000317	97.49	gold quality
tibia	UBERON:0000979	93.94	gold quality
rectum	UBERON:0001052	93.89	gold quality
ileal mucosa	UBERON:0000331	93.74	gold quality
mucosa of transverse colon	UBERON:0004991	92.69	gold quality
middle temporal gyrus	UBERON:0002771	92.32	gold quality
Brodmann (1909) area 46	UBERON:0006483	92.16	gold quality
superior frontal gyrus	UBERON:0002661	91.95	gold quality
postcentral gyrus	UBERON:0002581	91.79	gold quality
orbitofrontal cortex	UBERON:0004167	91.53	gold quality
parietal lobe	UBERON:0001872	90.92	gold quality
Brodmann (1909) area 23	UBERON:0013554	90.10	gold quality
colonic epithelium	UBERON:0000397	90.04	gold quality
ganglionic eminence	UBERON:0004023	89.04	gold quality
choroid plexus epithelium	UBERON:0003911	88.14	gold quality
Brodmann (1909) area 10	UBERON:0013541	87.92	gold quality
prefrontal cortex	UBERON:0000451	86.44	gold quality
primary visual cortex	UBERON:0002436	86.28	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	86.09	gold quality
frontal lobe	UBERON:0016525	85.96	gold quality
frontal cortex	UBERON:0001870	85.95	gold quality
transverse colon	UBERON:0001157	85.87	gold quality
occipital lobe	UBERON:0002021	85.79	gold quality
Brodmann (1909) area 9	UBERON:0013540	85.07	gold quality
frontal pole	UBERON:0002795	84.99	gold quality
calcaneal tendon	UBERON:0003701	84.97	gold quality
neocortex	UBERON:0001950	84.86	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-HCAD-35	yes	96.79
E-HCAD-25	yes	89.73
E-CURD-112	yes	18.34
E-ANND-3	yes	9.67
E-ENAD-17	no	385.21

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

34 targets.

Target	Regulation
AXIN2	Repression
BCL11B	Repression
BCL2	Activation
CD24	Activation
CD44	Activation
CDH1	Repression
CDH2	Activation
CHAT	Activation
CNTF
DCC	Activation
HBE1
HBG1	Activation
HOXA2	Repression
IGHM	Activation
KAT2B
LEF1	Activation
MEIS2	Repression
MYC	Activation
NANOG	Activation
NR4A2	Repression
PERP	Repression
POU5F1	Activation
PROM1	Repression
SATB2
SKI
SLC18A3	Activation
SNAI1	Activation
SNAI2	Activation
SP7	Activation
SPTA1

Upstream regulators (CollecTRI, top): SATB2, SMAD1, SMAD5, SP7

miRNA regulators (miRDB)

227 targeting SATB2, 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-3613-3P	100.00	76.36	7965
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-4682	100.00	68.89	1258
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-33A-5P	99.99	68.62	1055
HSA-MIR-33B-5P	99.99	68.58	1062
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-5696	99.98	72.36	4487
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-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-25-3P	99.98	74.60	1817

Functional genomics

ClinGen dosage: haploinsufficiency 3 (sufficient evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• SATB2 is identified as the cleft palate gene on chromosome pair 2 which undergoes translocation. (PMID:12915443)
• results suggest that deletion of SATB2 is responsible for several of the clinical features associated with 2q32q33 microdeletion syndrome (PMID:19668335)
• SATB2 is upregulated in advanced HNSCC tumors and forms a stable complex with DeltaNp63alpha. (PMID:20829881)
• this report provides further evidence that the SATB2 gene is the critical gene in this microdeletion syndrome. (PMID:21343628)
• SATB2 in combination with cytokeratin 20 identifies over 95% of all colorectal carcinomas. (PMID:21677534)
• SATB2 as the first p63 binding partner that differentially influences AEC and EEC p63 mutant proteins (PMID:21965674)
• SATB2 may play a crucial role in protecting against oxidative stress-induced osteoblast apoptosis. (PMID:22570222)
• SATB2 might involve in the development and progression of laryngeal squamous cell carcinoma. (PMID:22815795)
• results establish SATB2 as a novel gamma-globin gene regulator and provide a glimpse of the differential and cooperative roles of SATB family proteins in modulating clustered genes transcription (PMID:22825848)
• SATB2 is a marker of osteoblastic differentiation in benign and malignant mesenchymal tumours. (PMID:23701429)
• These findings indicate that SATB2 activates UPF3B expression through binding to its promoter. (PMID:23925499)
• SATB2 immunostaining could potentially be a useful adjunct for assisting in the differential diagnosis of both benign and malignant osteogenic tumors and for colorectal adenocarcinomas (PMID:24316906)
• SATB2 and SOX9 may be acting together via complex cis-regulation to coordinate the growth of the developing jaw. (PMID:24363063)
• Ectopic expression of SATB2 by transiently transfected with pCAG-SATB2 vector encoding the entire SATB2 coding sequence could reverse the effects of miR-31 on CRC tumorigenesis and progression. (PMID:24386467)
• This contemporary review provides an exploration of the molecular characteristics and function of SATB2; including its expression and cytokine regulation, its involvement in human disease, and its potential roles in skeletogenesis. (PMID:24411565)
• Data suggest that combined tumor expression of SATB2 (special AT-rich sequence binding protein 2) and CDH17 (cadherin-17) may be used as diagnostic biomarkers in subjects with medullary carcinoma of the large intestine (colon; cecum). (PMID:24437456)
• knockdown of SATB2 attenuated miR-31’s osteogenic effects in mesenchymal stem cells (PMID:24565840)
• research showed that miR-182 could directly target the 3’untranslated region (3’UTR) of SATB2 mRNA and subsequently repress both the mRNA and protein expressions of SATB2, which we identified in previous studies as a CRC metastasis-associated protein (PMID:24884732)
• We here report on a girl with intellectual disability, nearly absent speech and suspected hypodontia who was shown to carry an intragenic SATB2 tandem duplication hypothesized to lead to haploinsufficiency of SATB2. (PMID:25118029)
• The application of SATB2 to manipulate stem cells for the reconstruction of bone defects might represent a new approach. (PMID:25200657)
• SATB2 as a novel regulator of Osteosarcoma invasion, in part via effects on EPLIN and the cytoskeleton. (PMID:25220418)
• Intragenic duplication–a novel causative mechanism for SATB2-associated syndrome. (PMID:25251319)
• Immunohistochemical expression of SATB1 and SATB2 was analysed in tissue microarrays with primary tumours and a subset of paired lymph node metastases from 175 patients operated with pancreaticoduodenectomy for periampullary adenocarcinoma. (PMID:25323550)
• SATB2 action is mediated by palladin inhibition and the SATB2/palladin pathway is associated with invadopodia formation in colorectal cancer cells. (PMID:25523619)
• This review will discuss the four major findings regarding SATB1/2 in colorectal cancer studies.[review] (PMID:25543122)
• Low SATB2 expression is associated with colorectal cancer. (PMID:25662172)
• our data suggest that SATB2 plays an important role in esophageal squamous cell carcinoma progression, and that decreased expression of SATB2 in tumor tissues could be used as a prognostic marker for patients with esophageal squamous cell carcinoma. (PMID:25755730)
• We provide supporting evidence that analysis for deletions or point mutations in SATB2 should be considered in children with intellectual disability and severely impaired speech, cleft or high palate, teeth abnormalities, and osteopenia. (PMID:25885067)
• Reduced SATB2 dosage leads to mRNA and microRNA expression patterns and DNA methylation patterns more characteristic of differentiating than proliferating neural stem cells. This balance change may underlie neurodevelopmental disorders. (PMID:25966365)
• We found that IGFBP6 and SATB2 were significantly down-regulated in HIV-infected CEM*174 cells and 3 different cohorts of HIV/AIDS patients while their promoters were predominantly hyper-methylated compared with normal controls. (PMID:26039376)
• data suggest that SATB2 functions as a tumor suppressor in the development and progression of clear cell renal cell carcinoma (PMID:26097552)
• SATB2 is a sensitive marker for hindgut well-differentiated neuroendocrine tumors though it is not entirely specific. (PMID:26261600)
• Overexpression of SATB2 repressed the expression of extracellular signal-regulated kinase 5 (ERK5), and activation of ERK5 restored the SATB2-induced inhibition of proliferation and migration in gastric cancer. (PMID:26508023)
• SATB2 is frequently expressed in appendiceal mucinous neoplasms. In the context of a mucinous neoplasm involving the ovary, any SATB2 positivity should raise the possibility of appendiceal origin. (PMID:26542609)
• Ovarian tumors with mucinous or endometrioid features that express SATB2 are unlikely to be of primary ovarian origin and more likely to be of colorectal/appendiceal origin. (PMID:26551622)
• Low expression of SATB2 is associated with colorectal cancer. (PMID:26701851)
• SATB2 regulates the mitosis of cell cycle and affects G1 cell cycle via interaction with CDK2. (PMID:26714749)
• SATB2 expression increased anchorage-independent growth and cell migration in human bronchial epithelial cells (PMID:26780400)
• Data suggest that MIRN-33a-5p is highly induced by TNFa and BMP-2 in bone marrow stromal cells; anti-osteogenic TNFa down-regulates SATB2 expression indirectly; pro-osteogenic BMP-2 up-regulates SATB2 expression directly. (PMID:26785690)
• Case Reports: cutaneous osteoblastic osteosarcomas positive for SATB2. (PMID:27043339)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	satb2	ENSDARG00000061885
mus_musculus	Satb2	ENSMUSG00000038331
rattus_norvegicus	Satb2	ENSRNOG00000010188
drosophila_melanogaster	dve	FBGN0020307
caenorhabditis_elegans		WBGENE00022861

Paralogs (1): SATB1 (ENSG00000182568)

Protein

Protein identifiers

DNA-binding protein SATB2 — Q9UPW6 (reviewed: Q9UPW6)

Alternative names: Special AT-rich sequence-binding protein 2

All UniProt accessions (5): Q9UPW6, A0A8V8TPF3, A0A8V8TR16, C9JR56, F8WCV6

UniProt curated annotations — full annotation on UniProt →

Function. Binds to DNA, at nuclear matrix- or scaffold-associated regions. Thought to recognize the sugar-phosphate structure of double-stranded DNA. Transcription factor controlling nuclear gene expression, 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 and also by recruiting corepressors (HDACs) or coactivators (HATs) directly to promoters and enhancers. Required for the initiation of the upper-layer neurons (UL1) specific genetic program and for the inactivation of deep-layer neurons (DL) and UL2 specific genes, probably by modulating BCL11B expression. Repressor of Ctip2 and regulatory determinant of corticocortical connections in the developing cerebral cortex. May play an important role in palate formation. Acts as a molecular node in a transcriptional network regulating skeletal development and osteoblast differentiation.

Subunit / interactions. Interacts with ATF4 and RUNX2; resulting in enhanced DNA binding and transactivation by these transcription factors. Interacts with PIAS1.

Subcellular location. Nucleus matrix.

Tissue specificity. High expression in adult brain, moderate expression in fetal brain, and weak expression in adult liver, kidney, and spinal cord and in select brain regions, including amygdala, corpus callosum, caudate nucleus, and hippocampus.

Post-translational modifications. Sumoylated by PIAS1. Sumoylation promotes nuclear localization, but represses transcription factor activity.

Disease relevance. Chromosomal aberrations involving SATB2 are found in isolated cleft palate. Translocation t(2;7); translocation t(2;11). Cleft palate isolated (CPI) [MIM:119540] A congenital fissure of the soft and/or hard palate, due to faulty fusion. Isolated cleft palate is not associated with cleft lips. Some patients may manifest other craniofacial dysmorphic features, intellectual disability, and osteoporosis. The disease may be caused by variants affecting the gene represented in this entry. A chromosomal aberration involving SATB2 is found in a patient with classical features of Toriello-Carey syndrome. Translocation t(2;14)(q33;q22).

Similarity. Belongs to the CUT homeobox family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9UPW6-1	1	yes
Q9UPW6-2	2

RefSeq proteins (3): NP_001165980, NP_001165988, NP_056080 (=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 (46 total): helix 13, cross-link 8, compositionally biased region 5, modified residue 5, region of interest 4, DNA-binding region 3, domain 2, mutagenesis site 2, chain 1, splice variant 1, sequence variant 1, turn 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
1WI3	SOLUTION NMR
1WIZ	SOLUTION NMR
2CSF	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UPW6-F1	66.87	0.30

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 (13): 20, 39, 454, 467, 594, 24, 30, 161, 233, 350, 350, 475, 724

Mutagenesis-validated functional residues (2):

Position	Phenotype
233	reduced sumoylation, impaired nuclear localization, but enhanced transcription factor activity.
350	reduced sumoylation, impaired nuclear localization, but enhanced transcription factor activity.

Function

Pathways and Gene Ontology

Reactome pathways

11 pathways

ID	Pathway
R-HSA-4551638	SUMOylation of chromatin organization proteins
R-HSA-8940973	RUNX2 regulates osteoblast differentiation
R-HSA-212436	Generic Transcription Pathway
R-HSA-2990846	SUMOylation
R-HSA-3108232	SUMO E3 ligases SUMOylate target proteins
R-HSA-392499	Metabolism of proteins
R-HSA-597592	Post-translational protein modification
R-HSA-73857	RNA Polymerase II Transcription
R-HSA-74160	Gene expression (Transcription)
R-HSA-8878166	Transcriptional regulation by RUNX2
R-HSA-8941326	RUNX2 regulates bone development

MSigDB gene sets: 594 (showing top): RNGTGGGC_UNKNOWN, AGGAAGC_MIR5163P, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, BENPORATH_ES_WITH_H3K27ME3, GOBP_CARTILAGE_DEVELOPMENT, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GOBP_EMBRYONIC_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_EMBRYONIC_SKELETAL_SYSTEM_MORPHOGENESIS, BOYAULT_LIVER_CANCER_SUBCLASS_G2, GOBP_OSTEOBLAST_DIFFERENTIATION, GOBP_NEUROGENESIS, HNF1_Q6, FOXO4_01, USF_C

GO Biological Process (12): negative regulation of transcription by RNA polymerase II (GO:0000122), neuron migration (GO:0001764), osteoblast development (GO:0002076), chromatin remodeling (GO:0006338), regulation of transcription by RNA polymerase II (GO:0006357), embryonic pattern specification (GO:0009880), positive regulation of transcription by RNA polymerase II (GO:0045944), embryonic skeletal system morphogenesis (GO:0048704), cartilage development (GO:0051216), roof of mouth development (GO:0060021), chromatin organization (GO:0006325), regulation of gene expression (GO:0010468)

GO Molecular Function (10): 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 activator activity, RNA polymerase II-specific (GO:0001228), chromatin binding (GO:0003682), histone deacetylase binding (GO:0042826), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), protein binding (GO:0005515), sequence-specific DNA binding (GO:0043565)

GO Cellular Component (7): histone deacetylase complex (GO:0000118), chromatin (GO:0000785), nucleoplasm (GO:0005654), transcription regulator complex (GO:0005667), nuclear matrix (GO:0016363), nucleus (GO:0005634), nuclear lumen (GO:0031981)

Reactome top-level categories

Rollup of top-9 pathways:

Category	Pathways
SUMO E3 ligases SUMOylate target proteins	1
RUNX2 regulates bone development	1
RNA Polymerase II Transcription	1
Post-translational protein modification	1
SUMOylation	1
Metabolism of proteins	1
Gene expression (Transcription)	1
Generic Transcription Pathway	1
Transcriptional regulation by RUNX2	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of transcription by RNA polymerase II	3
transcription by RNA polymerase II	3
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
cellular anatomical structure	3
regulation of DNA-templated transcription	2
transcription cis-regulatory region binding	2
binding	2
nuclear lumen	2
negative regulation of DNA-templated transcription	1
cell migration	1
generation of neurons	1
osteoblast differentiation	1
cell development	1
chromatin organization	1
pattern specification process	1
embryo development	1
positive regulation of DNA-templated transcription	1
embryonic organ morphogenesis	1
skeletal system morphogenesis	1
embryonic skeletal system development	1
skeletal system development	1
animal organ development	1
connective tissue development	1
anatomical structure development	1
cellular component organization	1
gene expression	1
regulation of macromolecule biosynthetic process	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
DNA-binding transcription factor activity, RNA polymerase II-specific	1
DNA-binding transcription activator activity	1
positive regulation of transcription by RNA polymerase II	1
enzyme binding	1
nucleic acid binding	1
transcription regulator activity	1
DNA binding	1
nucleoplasm	1
nuclear protein-containing complex	1
catalytic complex	1

Protein interactions and networks

STRING

1870 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SATB2	TBR1	Q16650	891
SATB2	BCL11B	Q9C0K0	843
SATB2	CUX1	P39880	753
SATB2	FEZF2	Q8TBJ5	747
SATB2	PAX6	P26367	731
SATB2	MSX1	P28360	715
SATB2	NEUROD6	Q96NK8	712
SATB2	EOMES	O95936	703
SATB2	GTF3C3	Q9Y5Q9	695
SATB2	SOX5	P35711	695
SATB2	FOXG1	P55315	694
SATB2	CUX2	O14529	692
SATB2	LHX8	Q68G74	686
SATB2	HOXA2	O43364	683
SATB2	ATF4	P18848	676

IntAct

167 interactions, top by confidence:

A	B	Type	Score
FOXP1	FOXP2	psi-mi:“MI:0914”(association)	0.910
PLK1	SPAG9	psi-mi:“MI:0914”(association)	0.790
NFIC	NFIB	psi-mi:“MI:2364”(proximity)	0.690
QPRT	PIK3C2A	psi-mi:“MI:0914”(association)	0.640
MORF4L2	YEATS4	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
DPY30	AKAP8	psi-mi:“MI:0914”(association)	0.610
SATB2	RAB3IL1	psi-mi:“MI:0915”(physical association)	0.560
RAB3IL1	SATB2	psi-mi:“MI:0915”(physical association)	0.560
POLR2J3	SATB2	psi-mi:“MI:0915”(physical association)	0.560
SATB2	TP63	psi-mi:“MI:0915”(physical association)	0.560
TP63	SATB2	psi-mi:“MI:0915”(physical association)	0.560
TP63	SATB2	psi-mi:“MI:0403”(colocalization)	0.560
FOXP3	FOXP2	psi-mi:“MI:0914”(association)	0.530
MAGEA10	POTEF	psi-mi:“MI:0914”(association)	0.530
HSFY1	POTEF	psi-mi:“MI:0914”(association)	0.530
ETV7	NFIB	psi-mi:“MI:2364”(proximity)	0.470
SATB2	TP63	psi-mi:“MI:0915”(physical association)	0.460
SATB2	TP63	psi-mi:“MI:0403”(colocalization)	0.460
TP63	SATB2	psi-mi:“MI:0915”(physical association)	0.400
	SATB2	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (217): SATB2 (Two-hybrid), SATB2 (Affinity Capture-MS), SATB2 (Affinity Capture-MS), SATB2 (Affinity Capture-MS), SATB2 (Affinity Capture-MS), SATB2 (Affinity Capture-MS), SATB2 (Affinity Capture-MS), SATB2 (Affinity Capture-MS), SATB2 (Affinity Capture-MS), SATB2 (Affinity Capture-MS), SATB2 (Affinity Capture-MS), SATB2 (Affinity Capture-MS), SATB2 (Affinity Capture-MS), SATB2 (Affinity Capture-MS), SATB2 (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

9 interactions.

A	Effect	B	Mechanism
SATB2	“up-regulates quantity by expression”	UPF3B	“transcriptional regulation”
SATB2	“down-regulates activity”	TP63	binding
SATB2	“down-regulates quantity”	NR4A2	“transcriptional regulation”
SATB2	“down-regulates quantity”	BCL11B	“transcriptional regulation”
PIAS1	“down-regulates activity”	SATB2	sumoylation
SATB2	“up-regulates quantity”	IGHM	“transcriptional regulation”
SMAD1	“up-regulates quantity”	SATB2	“transcriptional regulation”
SMAD5	“up-regulates quantity”	SATB2	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 191 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 gene expression in beta cells	5	21.8×	3e-04
Deactivation of the beta-catenin transactivating complex	8	15.7×	9e-06
Gastrulation	7	15.3×	5e-05
Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells)	8	9.8×	2e-04
TCF dependent signaling in response to WNT	8	7.9×	5e-04
Signaling by WNT	7	6.6×	4e-03

GO biological processes:

GO term	Partners	Fold	FDR
urogenital system development	5	27.1×	9e-05
neuron fate specification	5	19.2×	4e-04
anatomical structure morphogenesis	20	15.2×	9e-16
somitogenesis	6	12.3×	7e-04
positive regulation of miRNA transcription	7	11.1×	3e-04
inner ear morphogenesis	6	9.9×	2e-03
negative regulation of neuron differentiation	6	8.9×	3e-03
odontogenesis of dentin-containing tooth	5	8.2×	1e-02

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	121
Likely pathogenic	59
Uncertain significance	180
Likely benign	272
Benign	65

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1032667	NM_001172509.2(SATB2):c.1135C>T (p.Gln379Ter)	Pathogenic
1076235	NC_000002.11:g.(?200136914)(200320780_?)del	Pathogenic
1181946	NM_001172509.2(SATB2):c.1196G>T (p.Arg399Leu)	Pathogenic
1203038	NM_001172509.2(SATB2):c.509G>A (p.Trp170Ter)	Pathogenic
1308668	NM_001172509.2(SATB2):c.1153del (p.Val385fs)	Pathogenic
1320122	NM_001172509.2(SATB2):c.150del (p.Val51fs)	Pathogenic
1323551	NM_001172509.2(SATB2):c.1705dup (p.Gln569fs)	Pathogenic
1341312	GRCh37/hg19 2q33.1(chr2:200245985-200406185)x1	Pathogenic
1373974	NM_001172509.2(SATB2):c.554del (p.Glu185fs)	Pathogenic
1411669	NM_001172509.2(SATB2):c.588_595del (p.Leu197fs)	Pathogenic
1453296	NM_001172509.2(SATB2):c.346+2T>A	Pathogenic
1453490	NM_001172509.2(SATB2):c.282_289dup (p.Val97fs)	Pathogenic
1457171	NM_001172509.2(SATB2):c.346+1G>A	Pathogenic
1526096	NM_001172509.2(SATB2):c.1166G>T (p.Arg389Leu)	Pathogenic
1526942	GRCh37/hg19 2q33.1(chr2:200165950-200205229)	Pathogenic
1776300	NM_001172509.2(SATB2):c.1606G>T (p.Glu536Ter)	Pathogenic
1805641	NM_001172509.2(SATB2):c.728C>G (p.Ser243Ter)	Pathogenic
1805643	NM_001172509.2(SATB2):c.581_584del (p.Glu194fs)	Pathogenic
1809701	NM_001172509.2(SATB2):c.344_346+1dup	Pathogenic
1809703	NM_001172509.2(SATB2):c.138del (p.Arg46fs)	Pathogenic
1809704	NM_001172509.2(SATB2):c.622dup (p.Ser208fs)	Pathogenic
208673	NM_001172509.2(SATB2):c.847C>T (p.Arg283Ter)	Pathogenic
217315	NC_000002.12:g.(199364049_199364051)_(199399060_199399062)dup	Pathogenic
218098	NM_001172509.1(SATB2):c.170_346dup	Pathogenic
2203243	NM_001172509.2(SATB2):c.1204G>A (p.Glu402Lys)	Pathogenic
224131	NM_001172509.2(SATB2):c.1131_1132del (p.Ser378fs)	Pathogenic
235893	NM_001172509.2(SATB2):c.1495A>T (p.Lys499Ter)	Pathogenic
2426107	NC_000002.11:g.(?200173463)(200320760_?)del	Pathogenic
2430097	NM_001172509.2(SATB2):c.1166G>C (p.Arg389Pro)	Pathogenic
2442371	NM_001172509.2(SATB2):c.1249del (p.Ala417fs)	Pathogenic

SpliceAI

3181 predictions. Top by Δscore:

Variant	Effect	Δscore
2:199308755:CTGA:C	donor_loss	1.0000
2:199308756:TGACC:T	donor_loss	1.0000
2:199308757:GACCT:G	donor_loss	1.0000
2:199308758:ACCTG:A	donor_loss	1.0000
2:199308759:CCTGC:C	donor_loss	1.0000
2:199308956:CC:C	acceptor_gain	1.0000
2:199308957:CC:C	acceptor_gain	1.0000
2:199323798:CTCA:C	donor_loss	1.0000
2:199323799:TCAC:T	donor_loss	1.0000
2:199323800:CA:C	donor_loss	1.0000
2:199323802:C:A	donor_loss	1.0000
2:199323802:CCTGA:C	donor_gain	1.0000
2:199323964:A:T	acceptor_gain	1.0000
2:199328692:TCTCA:T	donor_loss	1.0000
2:199328693:CTCAC:C	donor_loss	1.0000
2:199328694:TCAC:T	donor_loss	1.0000
2:199328695:CACC:C	donor_loss	1.0000
2:199328696:A:AC	donor_gain	1.0000
2:199328696:A:T	donor_loss	1.0000
2:199328697:C:CA	donor_loss	1.0000
2:199328697:C:CC	donor_gain	1.0000
2:199328906:AATCC:A	acceptor_gain	1.0000
2:199328907:ATCC:A	acceptor_gain	1.0000
2:199328908:TCC:T	acceptor_gain	1.0000
2:199328909:CCC:C	acceptor_gain	1.0000
2:199328910:CCTGA:C	acceptor_gain	1.0000
2:199328915:T:C	acceptor_gain	1.0000
2:199328915:T:TC	acceptor_gain	1.0000
2:199328919:A:AC	acceptor_gain	1.0000
2:199348695:TTGTA:T	donor_loss	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000007433 (2:199443061 G>A), RS1000013942 (2:199396575 C>G), RS1000014770 (2:199408271 C>T), RS1000065357 (2:199367120 T>A,C,G), RS1000072931 (2:199401245 G>A), RS1000095659 (2:199353137 C>A,G), RS1000119256 (2:199397925 C>A,T), RS1000132585 (2:199356745 T>C), RS1000149582 (2:199454663 T>C), RS1000164074 (2:199449615 G>A), RS1000176301 (2:199342996 A>T), RS1000185169 (2:199401446 G>A), RS1000214133 (2:199435243 T>C), RS1000218547 (2:199402921 C>T), RS1000235487 (2:199335524 C>T)

Disease associations

OMIM: gene MIM:608148 | disease phenotypes: MIM:612313, MIM:119540

GenCC curated gene-disease

Disease	Classification	Inheritance
chromosome 2q32-q33 deletion syndrome	Definitive	Autosomal dominant
SATB2 associated disorder	Definitive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
SATB2 associated disorder	Definitive	AD

Mondo (7): chromosome 2q32-q33 deletion syndrome (MONDO:0012864), SATB2 associated disorder (MONDO:0100147), neurodevelopmental disorder (MONDO:0700092), intellectual disability (MONDO:0001071), cleft palate (MONDO:0016064), dystonic disorder (MONDO:0003441), isolated cleft palate (MONDO:0007336)

Orphanet (5): 2q32q33 deletion syndrome (Orphanet:251019), SATB2-associated syndrome (Orphanet:576278), Cleft palate (Orphanet:2014), SATB2-associated syndrome due to a pathogenic variant (Orphanet:576283), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

151 total (30 of 151 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000023	Inguinal hernia
HP:0000028	Cryptorchidism
HP:0000054	Micropenis
HP:0000160	Narrow mouth
HP:0000164	Abnormality of the dentition
HP:0000175	Cleft palate
HP:0000193	Bifid uvula
HP:0000201	Pierre-Robin sequence
HP:0000212	Gingival overgrowth
HP:0000218	High palate
HP:0000219	Thin upper lip vermilion
HP:0000233	Thin vermilion border
HP:0000248	Brachycephaly
HP:0000252	Microcephaly
HP:0000256	Macrocephaly
HP:0000272	Malar flattening
HP:0000275	Narrow face
HP:0000276	Long face
HP:0000297	Facial hypotonia
HP:0000319	Smooth philtrum
HP:0000322	Short philtrum
HP:0000324	Facial asymmetry
HP:0000337	Broad forehead
HP:0000343	Long philtrum
HP:0000347	Micrognathia
HP:0000348	High forehead
HP:0000356	Abnormality of the outer ear
HP:0000358	Posteriorly rotated ears
HP:0000369	Low-set ears

GWAS associations

30 associations (top):

Study	Trait	p-value
GCST000624_2	Ulcerative colitis	5.000000e-06
GCST000636_2	Brain cytoarchitecture	2.000000e-06
GCST002052_3	Insomnia	6.000000e-06
GCST002137_5	Waist circumference	6.000000e-06
GCST002539_42	Schizophrenia	8.000000e-09
GCST002541_43	Menarche (age at onset)	6.000000e-11
GCST002541_44	Menarche (age at onset)	3.000000e-18
GCST002541_45	Menarche (age at onset)	8.000000e-20
GCST002806_2	Type 2 diabetes	9.000000e-07
GCST003740_12	Barrett’s esophagus or Esophageal adenocarcinoma	2.000000e-08
GCST003773_12	Loneliness (multivariate analysis)	5.000000e-06
GCST003989_12	Chin dimples	7.000000e-20
GCST003993_39	Menarche (age at onset)	1.000000e-09
GCST004521_284	Autism spectrum disorder or schizophrenia	5.000000e-08
GCST004946_150	Schizophrenia	9.000000e-10
GCST005867_15	Menarche (age at onset)	5.000000e-11
GCST006803_86	Schizophrenia	5.000000e-12
GCST006979_78	Heel bone mineral density	1.000000e-20
GCST007201_310	Schizophrenia	6.000000e-07
GCST007201_35	Schizophrenia	3.000000e-10
GCST007429_68	Lung function (FVC)	4.000000e-18
GCST007432_6	FEV1	2.000000e-14
GCST007843_4	Rheumatoid arthritis	3.000000e-09
GCST007856_56	Colorectal cancer or advanced adenoma	1.000000e-09
GCST008839_78	Height	7.000000e-18
GCST010145_14	Cerebrospinal fluid immune biomarker levels	2.000000e-08
GCST011534_5	Sun-seeking behavior	4.000000e-08
GCST011616_26	Cortical volume	2.000000e-10
GCST90000025_861	Appendicular lean mass	5.000000e-12
GCST90011900_135	Serum alkaline phosphatase levels	9.000000e-24

EFO canonical traits (11, from GWAS)

EFO ID	Trait name
EFO:0006913	prefrontal cortex cytoarchtiectural measurement
EFO:0007876	insomnia measurement
EFO:0004703	age at menarche
EFO:0007865	loneliness measurement
EFO:0009270	heel bone mineral density
EFO:0004312	vital capacity
EFO:0004314	forced expiratory volume
EFO:0008191	obsolete_interleukin 8 measurement
EFO:0010729	sun exposure measurement
EFO:0004980	appendicular lean mass
EFO:0004533	alkaline phosphatase measurement

MeSH disease descriptors (5)

Descriptor	Name	Tree numbers
D002972	Cleft Palate	C05.500.460.185; C05.660.207.540.460.185; C07.320.440.185; C07.465.525.185; C07.650.500.460.185; C07.650.525.185; C16.131.621.207.540.460.185; C16.131.850.500.460.185; C16.131.850.525.185
D020821	Dystonic Disorders	C10.228.662.300
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D065886	Neurodevelopmental Disorders	F03.625
C567350	Chromosome 2q32-Q33 Deletion Syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5725029 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression, increases methylation	8
Benzo(a)pyrene	decreases expression, increases expression, increases methylation	4
sodium arsenite	affects methylation, decreases reaction, increases expression, increases response to substance	3
Tetrachlorodibenzodioxin	decreases expression, increases expression	3
Aflatoxin B1	affects expression, decreases methylation, increases methylation	3
mercuric bromide	decreases expression, affects cotreatment	2
Cadmium	decreases expression, increases abundance, increases expression	2
Estradiol	affects expression, affects binding, increases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, decreases expression	2
aristolochic acid I	decreases expression	1
FR900359	increases phosphorylation	1
TAK-243	decreases sumoylation	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
2-methyl-4-isothiazolin-3-one	increases expression	1
trichostatin A	increases expression	1
arsenite	affects binding, decreases reaction	1
mono-(2-ethylhexyl)phthalate	increases expression	1
butyraldehyde	decreases expression	1
potassium chromate(VI)	increases expression	1
nickel sulfate	increases expression	1
beta-glycerophosphoric acid	affects cotreatment, increases expression, decreases reaction	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	increases expression, affects cotreatment, decreases expression	1
ICG 001	decreases expression	1
dorsomorphin	decreases expression, increases expression, affects cotreatment	1
jinfukang	affects cotreatment, decreases expression	1
Temozolomide	decreases expression	1
Sunitinib	increases expression	1
Arsenic Trioxide	decreases expression	1

ChEMBL screening assays

6 unique, capped per target: 6 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5697289	Binding	Inhibition of SATB2 (unknown origin) assessed as fold change at 10 uM incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	Inhibition of BET recruitment to chromatin as an effective treatment for MLL-fusion leukaemia. — Nature

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_TK05	HAP1 SATB2 (-)	Cancer cell line	Male

Clinical trials (associated diseases)

299 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,
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
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
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
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
NCT05273320	PHASE1	COMPLETED	Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361	PHASE1	ENROLLING_BY_INVITATION	Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764	PHASE1	COMPLETED	Use of MRI and cTBS for Catatonia in Autism
NCT06586827	PHASE1	COMPLETED	Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940	PHASE1	NOT_YET_RECRUITING	Escalating Doses of Memantine in Down Syndrome (MEDS-123)
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