STAG2

Summary

STAG2 (STAG2 cohesin complex component, HGNC:11355) is a protein-coding gene on chromosome Xq25, encoding Cohesin subunit SA-2 (Q8N3U4). Component of cohesin complex, a complex required for the cohesion of sister chromatids after DNA replication. In precision oncology, STAG2 Underexpression is associated with resistance to Vemurafenib in Melanoma (CIViC Level D). It is a selective cancer dependency (DepMap: 31.9% of cell lines) and haploinsufficient (ClinGen: sufficient evidence).

The protein encoded by this gene is a subunit of the cohesin complex, which regulates the separation of sister chromatids during cell division. Targeted inactivation of this gene results in chromatid cohesion defects and aneuploidy, suggesting that genetic disruption of cohesin is a cause of aneuploidy in human cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 10735 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Mullegama-Klein-Martinez syndrome (Definitive, GenCC) — +1 more curated relationship
• GWAS associations: 4
• Clinical variants (ClinVar): 1,054 total — 32 pathogenic, 22 likely-pathogenic
• Phenotypes (HPO): 146
• Precision-oncology evidence (CIViC): 1 curated variant–drug association
• Cancer driver (intOGen): loss-of-function (tumor-suppressor-like) across 11 cancer types
• Cancer dependency (DepMap): dependent in 31.9% of screened cell lines
• Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
• MANE Select transcript: NM_001042750

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11355
Approved symbol	STAG2
Name	STAG2 cohesin complex component
Location	Xq25
Locus type	gene with protein product
Status	Approved
Aliases	SA-2, SCC3B, SA2
Ensembl gene	ENSG00000101972
Ensembl biotype	protein_coding
OMIM	300826
Entrez	10735

Gene structure

Transcript identifiers

Ensembl transcripts: 55 — 40 protein_coding, 8 retained_intron, 5 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay

ENST00000218089, ENST00000371144, ENST00000371145, ENST00000371157, ENST00000371160, ENST00000394477, ENST00000394478, ENST00000428941, ENST00000435103, ENST00000435215, ENST00000455404, ENST00000458176, ENST00000458700, ENST00000466748, ENST00000469481, ENST00000471107, ENST00000475602, ENST00000483575, ENST00000686127, ENST00000686802, ENST00000687071, ENST00000687810, ENST00000687852, ENST00000688971, ENST00000691035, ENST00000691383, ENST00000692982, ENST00000693144, ENST00000693553, ENST00000899964, ENST00000899965, ENST00000899966, ENST00000899967, ENST00000899968, ENST00000899969, ENST00000899970, ENST00000899971, ENST00000899972, ENST00000899973, ENST00000899974, ENST00000899975, ENST00000899976, ENST00000899977, ENST00000899978, ENST00000940152, ENST00000940153, ENST00000940154, ENST00000940155, ENST00000940156, ENST00000940157, ENST00000940158, ENST00000945019, ENST00000945020, ENST00000945021, ENST00000945022

RefSeq mRNA: 17 — MANE Select: NM_001042750 NM_001042749, NM_001042750, NM_001042751, NM_001282418, NM_001375366, NM_001375367, NM_001375368, NM_001375369, NM_001375370, NM_001375371, NM_001375372, NM_001375373, NM_001375374, NM_001375375, NM_001375376, NM_001375377, NM_006603

CCDS: CCDS14607, CCDS43990

Canonical transcript exons

ENST00000371145 — 35 exons

Exon	Start	End
ENSE00001454527	124021367	124021431
ENSE00001594163	124051315	124051394
ENSE00001610268	124062902	124062994
ENSE00001728775	124090854	124090964
ENSE00001746768	124050186	124050309
ENSE00001760712	124051121	124051219
ENSE00001764010	124049005	124049078
ENSE00001775915	124047354	124047505
ENSE00001811813	123961706	123961856
ENSE00002187452	124045164	124045368
ENSE00003465771	124056128	124056235
ENSE00003475419	124061771	124061874
ENSE00003501845	124030961	124031125
ENSE00003573696	124061224	124061341
ENSE00003607567	124057866	124057977
ENSE00003631649	124025840	124025918
ENSE00003644573	124037527	124037623
ENSE00003645286	124022531	124022671
ENSE00003789993	124042569	124042645
ENSE00003903284	124100574	124102656
ENSE00004014440	124066356	124066436
ENSE00004014441	124081380	124081528
ENSE00004014442	124071149	124071323
ENSE00004014444	124066175	124066262
ENSE00004014445	124094018	124094144
ENSE00004014446	124068564	124068656
ENSE00004014447	124063116	124063205
ENSE00004014448	124076332	124076471
ENSE00004014449	124083421	124083549
ENSE00004014450	124077957	124078058
ENSE00004014451	124065876	124065946
ENSE00004014452	124090575	124090764
ENSE00004014453	124095372	124095449
ENSE00004014454	124063848	124064051
ENSE00004014455	124086547	124086770

Expression profiles

Bgee: expression breadth ubiquitous, 299 present calls, max score 99.33.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 61.7292 / max 717.6807, expressed in 1814 samples.

FANTOM5 promoters (14 alternative TSS)

Promoter ID	TPM avg	Samples expressed
197481	32.8220	1802
197474	7.6488	1596
197484	5.1267	1061
197473	5.1054	1370
197476	3.0803	910
197482	1.9163	862
197480	1.7774	773
197475	1.5386	778
197483	1.0275	514
197478	1.0237	630

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of paranasal sinus	UBERON:0005030	99.33	gold quality
calcaneal tendon	UBERON:0003701	99.21	gold quality
sural nerve	UBERON:0015488	99.00	gold quality
choroid plexus epithelium	UBERON:0003911	98.65	gold quality
trabecular bone tissue	UBERON:0002483	98.50	gold quality
lower lobe of lung	UBERON:0008949	98.46	gold quality
colonic epithelium	UBERON:0000397	98.10	gold quality
mammary duct	UBERON:0001765	98.10	gold quality
cartilage tissue	UBERON:0002418	98.00	gold quality
ventricular zone	UBERON:0003053	97.92	gold quality
germinal epithelium of ovary	UBERON:0001304	97.87	gold quality
caput epididymis	UBERON:0004358	97.84	gold quality
corpus epididymis	UBERON:0004359	97.83	gold quality
epithelium of mammary gland	UBERON:0003244	97.74	gold quality
superficial temporal artery	UBERON:0001614	97.68	gold quality
pigmented layer of retina	UBERON:0001782	97.47	gold quality
retina	UBERON:0000966	97.44	gold quality
amniotic fluid	UBERON:0000173	97.41	gold quality
nipple	UBERON:0002030	97.38	gold quality
visceral pleura	UBERON:0002401	97.38	gold quality
bone marrow cell	CL:0002092	97.36	gold quality
corpus callosum	UBERON:0002336	97.32	gold quality
seminal vesicle	UBERON:0000998	97.29	gold quality
pylorus	UBERON:0001166	97.29	gold quality
upper leg skin	UBERON:0004262	97.29	gold quality
epithelium of nasopharynx	UBERON:0001951	97.26	gold quality
tibia	UBERON:0000979	97.25	gold quality
nasopharynx	UBERON:0001728	97.24	gold quality
penis	UBERON:0000989	97.16	gold quality
pleura	UBERON:0000977	97.12	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.50

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): WT1

miRNA regulators (miRDB)

226 targeting STAG2, 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-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4533	100.00	69.48	2758
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-1277-5P	100.00	73.95	5056
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345

Functional genomics

ClinGen dosage: haploinsufficiency 3 (sufficient evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map DepMap (CRISPR cell-line fitness): dependent in 31.9% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 40)

• evidence suggests STAG2 functions as a transcriptional co-activator by a mechanism involving protein-protein interactions with transcription factors (PMID:14660624)
• Phosphorylation of SA2 is essential for cohesin dissociation during prophase and prometaphase, but is not required for cohesin cleavage by separase. (PMID:15737063)
• Cohesion between sister chromatids is essential for their bi-orientation on mitotic spindles is mediated by a multisubunit complex called cohesin. (PMID:15737064)
• cohesin(SA1) and cohesin(SA2) are differentially required for telomere and centromere cohesion, respectively. (PMID:19822671)
• results demonstrate specific sites on C terminus of CTCF are essential for cohesin binding and insulator function; only direct interaction between CTCF and cohesin involves contact with SA2, which is external to the cohesin ring (PMID:21444719)
• study has shown that diverse human cancers harbor mutations in the X-linked chromatid cohesion gene STAG2 and that these mutations cause aneuploidy (PMID:21852505)
• Somatic mutation of STAG2, an aneuploidy-related gene, is rare in acute leukemias. (PMID:22132872)
• Low STAG2 expression and not mutation is associated with neoplasms. (PMID:22668012)
• Nuclear import and export signals of human cohesins SA1/STAG1 and SA2/STAG2 expressed in Saccharomyces cerevisiae. (PMID:22715410)
• Rad21 binds to SA proteins through two SA-binding motifs on Rad21. (PMID:23874961)
• Inactivating point mutations in the STAG2 gene are not common in neuroblastoma tumors (PMID:24088605)
• STAG2 is one of the most commonly mutated genes in bladder cancer. (PMID:24121789)
• STAG2 is a new urothelial bladder cancer tumor suppressor acting through mechanisms that are different from its role in preventing aneuploidy. (PMID:24121791)
• Loss of STAG2 function is associated with non-invasive bladder cancer. (PMID:24270882)
• cohesin-SA1 and cohesin-SA2 participate in the DNA damage response (PMID:24324008)
• Mutations in STAG2 is associated with acute myeloid leukemia. (PMID:24335498)
• These data suggest that PARP is a potential target for tumors harboring inactivating mutations in STAG2, and strongly recommend that STAG2 status be determined and correlated with therapeutic response to PARP inhibitors (PMID:24356817)
• our study identifies the duplication of XIAP and STAG2 as the minimal duplicated region leading to the ID, facial morphological anomalies, and speech delay, specific to the patients with Xq25 duplication. (PMID:24733578)
• Aneuploidy in human salivary gland carcinomas is not driven by loss of expression of STAG2. (PMID:24822266)
• Cross-sectional deep-sequencing analysis for clonal hierarchy demonstrated STAG2, SMC3, and RAD21 mutations to be ancestral in 18%, 18%, and 47% of cases, respectively, and each expanded to clonal dominance concordant with disease transformation (PMID:25006131)
• In an independent EFT tissue microarray cohort, we show that STAG2 loss as detected by immunohistochemistry may be associated with more advanced disease (p = 0.15) and a modest decrease in overall survival (p = 0.10). (PMID:25010205)
• STAG2 promotes the correction of kMT attachment errors to ensure faithful chromosome segregation during mitosis. (PMID:25074805)
• Loss of STAG2 expression occurs in 15% of tumors and is associated with metastatic disease, suggesting a potential genetic vulnerability in Ewing sarcoma (PMID:25186949)
• Genomic landscape of Ewing sarcoma defines an aggressive subtype with co-association of STAG2 and TP53 mutations (PMID:25223734)
• Microduplication of chromosome Xq25 encompassing STAG2 gene in a boy with intellectual disability (PMID:25450604)
• We suggest that increased STAG2 gene copy number and dysregulation of its downstream target genes may be responsible for the specific clinical findings of this syndrome. (PMID:25677961)
• Data show a significantly higher stromal antigen 2 (STAG2) mRNA and protein levels in normal bladder cells than bladder cancer cells. (PMID:25867412)
• Characterization of C-terminal nuclear localization signal of the human SA2 stromalin (PMID:25979289)
• results indicated that the complete loss of STAG2 expression was predictive for better recurrence-free survival and cancer-specific survival, suggesting its potential value as a prognostic biomarker in bladder cancer (PMID:26838030)
• TAG2 is the most commonly mutated subunit, and in a recent analysis was identified as one of only 12 genes that are significantly mutated in four or more cancer types. (PMID:27207471)
• There is LOH at STAG1 and STAG2 loci in oral squamous cell carcinoma (OSCC), but OSCC and NM showed similar transcriptional levels of STAG1, STAG2, and PDS5B. (PMID:27341316)
• Loss of STAG2 or STAG3, which encode subunits of the cohesin complex, in melanoma cells results in resistance to BRAF inhibitors (BRAFi). Loss-of-function mutations in STAG2, as well as decreased expression of STAG2 or STAG3 proteins were found in several tumor samples from patients with acquired resistance to BRAFi and in BRAFi-resistant melanoma cell lines. (PMID:27500726)
• the clinical features of these three cases are remarkably similar to those observed in other well-established cohesinopathies. Herein, we suggest that STAG2 is a dosage-sensitive gene and that heterozygous loss-of-function variants lead to a cohesinopathy. (PMID:28296084)
• Data indicate that cohesin subunit SA-1 (STAG1) is a promising therapeutic target in cancers with inactivating alterations of cohesin subunit SA-2 (STAG2). (PMID:28430577)
• these data suggest that STAG2 acts as a tumor suppressor gene in bladder cancer and may be a potential therapeutic target in bladder cancer (PMID:28627627)
• Here the authors demonstrate that the most frequently mutated subunit of the cohesin complex, STAG2, displays a strong synthetic lethal interaction with its paralog STAG1. Mechanistically, STAG1 loss abrogates sister chromatid cohesion in STAG2 mutated but not in wild-type cells leading to mitotic catastrophe, defective cell division and apoptosis. (PMID:28691904)
• Extending the lifespan of normal human cells due to inactivation of STAG2 could promote tumorigenesis by extending the period during which tumor-driving mutations occur. (PMID:28819029)
• STAG2 loss of Expression is Associated with Cancer Progression in Upper Urinary Tract Carcinoma. (PMID:28967037)
• STAG2 is the most frequently mutated cohesin subunit and was recently identified as a gene that is commonly altered in bladder cancer. The significance of these mutations remains controversial. Some studies associate loss of STAG2 expression with low stage and low grade bladder tumors, as well as with improved clinical outcomes. [review] (PMID:29501732)
• STAG2 deficiency induces interferon responses via cGAS-STING pathway and restricts virus infection. (PMID:29662124)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	stag2a	ENSDARG00000011783
danio_rerio	stag2b	ENSDARG00000053668
mus_musculus	Stag2	ENSMUSG00000025862
rattus_norvegicus	Stag2	ENSRNOG00000029885
drosophila_melanogaster	SA2	FBGN0043865
caenorhabditis_elegans		WBGENE00004738

Paralogs (2): STAG3 (ENSG00000066923), STAG1 (ENSG00000118007)

Protein

Protein identifiers

Cohesin subunit SA-2 — Q8N3U4 (reviewed: Q8N3U4)

Alternative names: SCC3 homolog 2, Stromal antigen 2

All UniProt accessions (11): Q8N3U4, A0A8I5KUG8, A0A8I5KVF8, B1AMS8, B1AMS9, B1AMT0, B1AMT1, B1AMT2, B1AMT3, B1AMT4, E7ERE6

UniProt curated annotations — full annotation on UniProt →

Function. Component of cohesin complex, a complex required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The cohesin complex may also play a role in spindle pole assembly during mitosis.

Subunit / interactions. Interacts directly with RAD21 in cohesin complex. Cohesin complexes are composed of a heterodimer between a SMC1 protein (SMC1A or SMC1B) and SMC3, which are attached via their hinge domain, and RAD21 which link them at their heads, and one STAG protein (STAG1, STAG2 or STAG3). In cohesin complexes, STAG2 is mutually exclusive with STAG1 and STAG3.

Subcellular location. Nucleus. Chromosome. Centromere.

Post-translational modifications. Phosphorylated by PLK1. The large dissociation of cohesin from chromosome arms during prophase is partly due to its phosphorylation.

Disease relevance. Mullegama-Klein-Martinez syndrome (MKMS) [MIM:301022] An X-linked neurodevelopmental disorder with variable features including intellectual deficiency, microcephaly, microtia, hearing loss, developmental delay, dysmorphic features, language delay, congenital heart defect, and clinodactyly of the 5th finger. The disease is caused by variants affecting the gene represented in this entry. Holoprosencephaly 13, X-linked (HPE13) [MIM:301043] An X-linked form of holoprosencephaly, a structural anomaly of the brain in which the developing forebrain fails to correctly separate into right and left hemispheres. It is a genetically and clinically heterogeneous disorder with a wide spectrum of severity, ranging from alobar holoprosencephaly with severe facial abnormalities, such as cyclopia and proboscis, to mild forms that include lobar or microform holoprosencephaly, without cerebral malformations and with mild craniofacial defects. HPE13 features range from full alobar holoprosencephaly with cyclopia to semilobar holoprosencephaly or septooptic dysplasia. Dysmorphic features include microcephaly, hypotelorism, low-set ears, micrognathia, and cleft lip/palate. Patients with a more severe phenotype may die in the newborn period, whereas those with a less severe phenotype show global developmental delay. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the SCC3 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8N3U4-1	1	yes
Q8N3U4-2	2

RefSeq proteins (17): NP_001036214, NP_001036215, NP_001036216, NP_001269347, NP_001362295, NP_001362296, NP_001362297, NP_001362298, NP_001362299, NP_001362300, NP_001362301, NP_001362302, NP_001362303, NP_001362304, NP_001362305, NP_001362306, NP_006594 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013721	STAG	Domain
IPR016024	ARM-type_fold	Homologous_superfamily
IPR020839	SCD	Domain
IPR039662	Cohesin_Scc3/SA	Family
IPR056396	HEAT_SCC3-SA	Domain

Pfam: PF08514, PF21581, PF24571

UniProt features (115 total): helix 56, strand 14, sequence variant 11, sequence conflict 11, modified residue 9, turn 7, region of interest 2, compositionally biased region 2, chain 1, domain 1, splice variant 1

Structure

Experimental structures (PDB)

9 structures.

PDB	Method	Resolution (Å)
6QNX	X-RAY DIFFRACTION	2.7
4PJW	X-RAY DIFFRACTION	2.85
9HMV	ELECTRON MICROSCOPY	2.9
4PK7	X-RAY DIFFRACTION	2.95
4PJU	X-RAY DIFFRACTION	3.05
9EP3	X-RAY DIFFRACTION	3.08
7ZJS	X-RAY DIFFRACTION	3.24
9HMS	ELECTRON MICROSCOPY	3.4
8K4D	X-RAY DIFFRACTION	3.52

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N3U4-F1	80.07	0.64

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 (9): 1064, 1065, 1112, 1177, 1178, 1, 607, 1058, 1061

Function

Pathways and Gene Ontology

Reactome pathways

24 pathways

ID	Pathway
R-HSA-1221632	Meiotic synapsis
R-HSA-2467813	Separation of Sister Chromatids
R-HSA-2468052	Establishment of Sister Chromatid Cohesion
R-HSA-2470946	Cohesin Loading onto Chromatin
R-HSA-2500257	Resolution of Sister Chromatid Cohesion
R-HSA-3108214	SUMOylation of DNA damage response and repair proteins
R-HSA-9018519	Estrogen-dependent gene expression
R-HSA-1474165	Reproduction
R-HSA-1500620	Meiosis
R-HSA-162582	Signal Transduction
R-HSA-1640170	Cell Cycle
R-HSA-2555396	Mitotic Metaphase and Anaphase
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-68877	Mitotic Prometaphase
R-HSA-68882	Mitotic Anaphase
R-HSA-68884	Mitotic Telophase/Cytokinesis
R-HSA-68886	M Phase
R-HSA-69242	S Phase
R-HSA-69278	Cell Cycle, Mitotic
R-HSA-8939211	ESR-mediated signaling
R-HSA-9006931	Signaling by Nuclear Receptors

MSigDB gene sets: 720 (showing top): TGGTGCT_MIR29A_MIR29B_MIR29C, E2F_Q4, GOBP_CHROMOSOME_ORGANIZATION, E2F_Q4_01, MULLIGHAN_NPM1_SIGNATURE_3_UP, E2F4DP1_01, REACTOME_MEIOTIC_SYNAPSIS, CMYB_01, SP3_Q3, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GTTAAAG_MIR302B, ATGCAGT_MIR217, TAL1ALPHAE47_01, HNF1_Q6, AP2_Q3

GO Biological Process (6): sister chromatid cohesion (GO:0007062), establishment of mitotic sister chromatid cohesion (GO:0034087), cell division (GO:0051301), meiotic cell cycle (GO:0051321), mitotic spindle assembly (GO:0090307), chromosome segregation (GO:0007059)

GO Molecular Function (2): chromatin binding (GO:0003682), protein binding (GO:0005515)

GO Cellular Component (13): chromosome, centromeric region (GO:0000775), chromatin (GO:0000785), fibrillar center (GO:0001650), nucleus (GO:0005634), nucleoplasm (GO:0005654), chromosome (GO:0005694), nucleolus (GO:0005730), cytosol (GO:0005829), cohesin complex (GO:0008278), membrane (GO:0016020), nuclear matrix (GO:0016363), mitotic cohesin complex (GO:0030892), mitotic spindle pole (GO:0097431)

Reactome top-level categories

Rollup of top-15 pathways:

Category	Pathways
M Phase	3
Meiosis	1
Mitotic Anaphase	1
S Phase	1
Mitotic Telophase/Cytokinesis	1
Mitotic Prometaphase	1
SUMO E3 ligases SUMOylate target proteins	1
ESR-mediated signaling	1
Reproduction	1
Cell Cycle	1
Post-translational protein modification	1
SUMOylation	1
Metabolism of proteins	1
Mitotic Metaphase and Anaphase	1
Cell Cycle, Mitotic	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	6
nuclear lumen	3
cell cycle process	2
binding	2
chromosome	2
intracellular membraneless organelle	2
chromosome organization	1
mitotic cell cycle	1
mitotic sister chromatid cohesion	1
establishment of sister chromatid cohesion	1
mitotic cell cycle process	1
cellular process	1
cell cycle	1
sexual reproduction	1
reproductive process	1
meiotic nuclear division	1
mitotic sister chromatid segregation	1
mitotic spindle organization	1
spindle assembly	1
mitotic nuclear division	1
chromosomal region	1
nucleolus	1
intracellular membrane-bounded organelle	1
cytoplasm	1
protein-containing complex	1
cohesin complex	1
spindle pole	1
mitotic spindle	1

Protein interactions and networks

STRING

2402 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
STAG2	RAD21	O60216	999
STAG2	SMC3	Q9UQE7	999
STAG2	SMC1A	Q14683	997
STAG2	PDS5A	Q29RF7	978
STAG2	WAPL	Q7Z5K2	958
STAG2	CTCF	P49711	953
STAG2	REC8	O95072	926
STAG2	PDS5B	Q9NTI5	900
STAG2	SGO1	Q5FBB7	874
STAG2	ESPL1	Q14674	871
STAG2	NIPBL	Q6KC79	846
STAG2	SMC1B	Q8NDV3	823
STAG2	SGO2	Q562F6	816
STAG2	RAD21L1	Q9H4I0	803
STAG2	STAG1	Q8WVM7	781

IntAct

166 interactions, top by confidence:

A	B	Type	Score
STAG2	RAD21	psi-mi:“MI:0914”(association)	0.970
STAG2	RAD21	psi-mi:“MI:0407”(direct interaction)	0.970
STAG2	RAD21	psi-mi:“MI:0915”(physical association)	0.970
RAD21	STAG2	psi-mi:“MI:0915”(physical association)	0.970
RAD21	STAG2	psi-mi:“MI:0914”(association)	0.970
SMC3	RAD21	psi-mi:“MI:0914”(association)	0.960
SMC3	RAD21	psi-mi:“MI:0915”(physical association)	0.960
STAG2	SMC3	psi-mi:“MI:0915”(physical association)	0.950
SMC3	STAG2	psi-mi:“MI:0915”(physical association)	0.950
RAD21	SMC1A	psi-mi:“MI:0915”(physical association)	0.930
SMC1A	RAD21	psi-mi:“MI:0914”(association)	0.930
SMC1A	RAD21	psi-mi:“MI:0915”(physical association)	0.930
STAG1	RAD21	psi-mi:“MI:0914”(association)	0.930
RAD21	SMC1A	psi-mi:“MI:0914”(association)	0.930

BioGRID (377): STAG2 (Affinity Capture-MS), STAG2 (Affinity Capture-MS), STAG2 (Affinity Capture-MS), STAG2 (Affinity Capture-MS), STAG2 (Affinity Capture-MS), STAG2 (Affinity Capture-MS), STAG2 (Affinity Capture-MS), STAG2 (Affinity Capture-MS), BZW2 (Co-fractionation), COPE (Co-fractionation), EXOSC2 (Co-fractionation), EXOSC9 (Co-fractionation), PDS5A (Co-fractionation), RAD21 (Co-fractionation), SMC1A (Co-fractionation)

ESM2 similar proteins: A2A5R2, A2VE70, D4A631, F4IXW2, F4JN05, F4JSZ5, G3X9K3, G5EGS5, O04375, O04376, O35638, O46382, O60308, O95466, Q08AM6, Q29L43, Q4S6U8, Q5SP90, Q5ZIW5, Q60996, Q66L58, Q68F38, Q6GP04, Q6IN85, Q6INN7, Q6NXC0, Q6P2K6, Q7TSU1, Q7Z3U7, Q7ZYV9, Q80TL7, Q80TR8, Q80WQ2, Q80X82, Q8LF36, Q8N3U4, Q8RW96, Q8WVM7, Q92797, Q9D3E6

Diamond homologs: O35638, O70576, P0CL83, P0CL84, P0CL85, Q19555, Q8N3U4, Q8TBR4, Q8WVM7, Q99M76, Q9D3E6, Q9DGN0, Q9DGN1, Q9UJ98, O13816, O82265

SIGNOR signaling

7 interactions.

A	Effect	B	Mechanism
STAG2	up-regulates	CD69
STAG2	up-regulates	TNF
STAG2	“up-regulates quantity by stabilization”	RAD21	binding
PLK1	“down-regulates activity”	STAG2	dephosphorylation
SSU72	“up-regulates activity”	STAG2	dephosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 115 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
S Phase	6	13.9×	5e-04
Resolution of Sister Chromatid Cohesion	10	11.1×	4e-06
ESR-mediated signaling	6	9.9×	2e-03
Separation of Sister Chromatids	10	7.8×	8e-05
Estrogen-dependent gene expression	8	7.8×	8e-04
Cell Cycle, Mitotic	9	5.6×	2e-03

GO biological processes:

GO term	Partners	Fold	FDR
mitotic sister chromatid cohesion	6	68.8×	2e-07
sister chromatid cohesion	6	46.9×	1e-06
cellular response to UV	5	15.1×	3e-03
cellular response to xenobiotic stimulus	5	12.3×	6e-03
cell division	10	4.7×	6e-03

Disease & clinical

Cancer significance

From intOGen — cancer-driver classification: loss-of-function (tumor-suppressor-like) across 11 cancer types — AML, BLCA, CCRCC, ES, GBM, LUSC, MBL, PAST, PRCC, UCEC, WDTC.

Clinical variants and AI predictions

ClinVar

1054 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	32
Likely pathogenic	22
Uncertain significance	330
Likely benign	278
Benign	80

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1190243	NM_001042750.2(STAG2):c.1758del (p.Asn587fs)	Pathogenic
1323653	NM_001042750.2(STAG2):c.581_591del (p.Glu194fs)	Pathogenic
1326915	NM_001042750.2(STAG2):c.1412_1416+9del	Pathogenic
1338817	NM_001042750.2(STAG2):c.1913_1922del (p.Ala638fs)	Pathogenic
1703598	GRCh37/hg19 Xq25(chrX:122855926-123438005)	Pathogenic
1703599	GRCh37/hg19 Xq25(chrX:122845829-123288831)	Pathogenic
2423582	NC_000023.10:g.(?123156478)(123234447_?)dup	Pathogenic
2441833	NM_001042750.2(STAG2):c.867del (p.Phe289fs)	Pathogenic
2685719	GRCh37/hg19 Xq25(chrX:123118140-123166691)x1	Pathogenic
2762142	NM_001042750.2(STAG2):c.2300del (p.Val767fs)	Pathogenic
3024656	GRCh37/hg19 Xq25(chrX:122744787-123234447)x2	Pathogenic
3246407	NC_000023.10:g.(?123164791)(123234447_?)del	Pathogenic
3257785	NM_001042750.2(STAG2):c.3724C>T (p.Arg1242Ter)	Pathogenic
3339587	NM_001042750.2(STAG2):c.1018-1G>A	Pathogenic
3358932	NM_001042750.2(STAG2):c.1788_1789insGG (p.Leu597fs)	Pathogenic
3650704	NM_001042750.2(STAG2):c.3133C>T (p.Arg1045Ter)	Pathogenic
4076576	NM_001042750.2(STAG2):c.2533+1G>A	Pathogenic
4279014	NM_001042750.2(STAG2):c.3332dup (p.His1111fs)	Pathogenic
4281444	NM_001042750.2(STAG2):c.483del (p.Thr162fs)	Pathogenic
4468895	NM_001042750.2(STAG2):c.3053+2T>C	Pathogenic
4632337	NM_001042750.2(STAG2):c.2353G>T (p.Glu785Ter)	Pathogenic
4819118	NM_001042750.2(STAG2):c.2096+2T>A	Pathogenic
623239	NM_001042750.2(STAG2):c.205C>T (p.Arg69Ter)	Pathogenic
623240	NM_001042750.2(STAG2):c.980G>A (p.Ser327Asn)	Pathogenic
623241	NM_001042750.2(STAG2):c.3027A>T (p.Lys1009Asn)	Pathogenic
807501	NM_001042750.2(STAG2):c.352dup (p.Ile118fs)	Pathogenic
816384	GRCh37/hg19 Xq25(chrX:122900419-123323986)x2	Pathogenic
864831	NM_001042750.2(STAG2):c.3034C>T (p.Arg1012Ter)	Pathogenic
864832	NM_001042750.2(STAG2):c.436C>T (p.Arg146Ter)	Pathogenic
980323	GRCh37/hg19 Xq25(chrX:123077962-123237001)x4	Pathogenic

SpliceAI

7190 predictions. Top by Δscore:

Variant	Effect	Δscore
X:123961371:GTAGC:G	donor_gain	1.0000
X:124022527:A:AG	acceptor_gain	1.0000
X:124022527:AAAG:A	acceptor_gain	1.0000
X:124022528:A:G	acceptor_gain	1.0000
X:124022528:AAG:A	acceptor_gain	1.0000
X:124022529:A:AG	acceptor_gain	1.0000
X:124022529:AG:A	acceptor_gain	1.0000
X:124022530:G:A	acceptor_gain	1.0000
X:124022530:G:GA	acceptor_gain	1.0000
X:124022530:GGA:G	acceptor_gain	1.0000
X:124022530:GGAA:G	acceptor_gain	1.0000
X:124022530:GGAAT:G	acceptor_gain	1.0000
X:124022667:CTACA:C	donor_gain	1.0000
X:124022668:TACA:T	donor_gain	1.0000
X:124022669:ACA:A	donor_gain	1.0000
X:124022670:CA:C	donor_gain	1.0000
X:124022670:CAGTA:C	donor_loss	1.0000
X:124022671:AG:A	donor_loss	1.0000
X:124022672:G:GG	donor_gain	1.0000
X:124022672:GT:G	donor_loss	1.0000
X:124022673:T:A	donor_loss	1.0000
X:124022676:G:GG	donor_gain	1.0000
X:124025835:CACA:C	acceptor_loss	1.0000
X:124025836:ACAGG:A	acceptor_loss	1.0000
X:124025838:A:T	acceptor_loss	1.0000
X:124025839:G:GA	acceptor_loss	1.0000
X:124025839:GGGA:G	acceptor_gain	1.0000
X:124025914:GCAAA:G	donor_gain	1.0000
X:124025915:C:T	donor_gain	1.0000
X:124025915:CAAA:C	donor_gain	1.0000

AlphaMissense

8495 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:124031100:T:A	V88D	1.000
X:124037542:T:A	W102R	1.000
X:124037542:T:C	W102R	1.000
X:124037554:T:G	Y106D	1.000
X:124037579:T:C	L114P	1.000
X:124037588:T:C	L117P	1.000
X:124037608:T:C	C124R	1.000
X:124037610:T:G	C124W	1.000
X:124037614:G:C	G126R	1.000
X:124037615:G:A	G126D	1.000
X:124037615:G:T	G126V	1.000
X:124037617:T:C	C127R	1.000
X:124037618:G:A	C127Y	1.000
X:124037619:T:G	C127W	1.000
X:124037623:G:A	G129R	1.000
X:124037623:G:C	G129R	1.000
X:124042575:T:A	V131D	1.000
X:124042614:T:A	I144K	1.000
X:124042614:T:G	I144R	1.000
X:124042617:T:A	I145N	1.000
X:124042617:T:G	I145S	1.000
X:124042620:G:C	R146P	1.000
X:124042626:T:A	M148K	1.000
X:124042626:T:C	M148T	1.000
X:124042626:T:G	M148R	1.000
X:124042627:G:A	M148I	1.000
X:124042627:G:C	M148I	1.000
X:124042627:G:T	M148I	1.000
X:124042637:T:A	F152I	1.000
X:124042637:T:C	F152L	1.000

dbSNP variants (sampled 300 via entrez): RS1000016097 (X:124002156 G>T), RS1000027383 (X:123995765 G>T), RS1000036753 (X:123986162 A>C), RS1000048573 (X:124019243 G>A), RS1000101904 (X:124018913 G>A,T), RS1000102037 (X:124071983 GGTTT>G), RS1000104982 (X:123969113 C>T), RS1000106439 (X:123997157 T>C), RS1000122645 (X:124071695 T>C), RS1000132473 (X:124084328 A>G), RS1000158156 (X:124072206 T>C), RS1000158196 (X:124028228 C>T), RS1000186348 (X:124046049 C>G), RS1000215288 (X:124010195 G>A), RS1000244132 (X:124007295 G>A)

Disease associations

OMIM: gene MIM:300826 | disease phenotypes: MIM:301022, MIM:301043, MIM:300635, MIM:300979

GenCC curated gene-disease

Disease	Classification	Inheritance
Mullegama-Klein-Martinez syndrome	Definitive	X-linked
Xq25 microduplication syndrome	Limited	X-linked

Mondo (6): Mullegama-Klein-Martinez syndrome (MONDO:0026722), holoprosencephaly 13, X-linked (MONDO:0026763), X-linked lymphoproliferative disease due to XIAP deficiency (MONDO:0010385), Xq25 microduplication syndrome (MONDO:0010507), neurodevelopmental disorder (MONDO:0700092), intellectual disability (MONDO:0001071)

Orphanet (4): X-linked lymphoproliferative disease (Orphanet:2442), X-linked lymphoproliferative disease due to XIAP deficiency (Orphanet:538934), Xq25 microduplication syndrome (Orphanet:521258), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

146 total (30 of 146 shown, HPO-id order):

HPO	Term
HP:0000119	Abnormality of the genitourinary system
HP:0000161	Median cleft upper lip
HP:0000175	Cleft palate
HP:0000176	Submucous cleft hard palate
HP:0000193	Bifid uvula
HP:0000218	High palate
HP:0000219	Thin upper lip vermilion
HP:0000238	Hydrocephalus
HP:0000252	Microcephaly
HP:0000256	Macrocephaly
HP:0000272	Malar flattening
HP:0000286	Epicanthus
HP:0000293	Full cheeks
HP:0000294	Low anterior hairline
HP:0000297	Facial hypotonia
HP:0000303	Mandibular prognathia
HP:0000319	Smooth philtrum
HP:0000322	Short philtrum
HP:0000325	Triangular face
HP:0000340	Sloping forehead
HP:0000343	Long philtrum
HP:0000347	Micrognathia
HP:0000365	Hearing impairment
HP:0000369	Low-set ears
HP:0000384	Preauricular skin tag
HP:0000407	Sensorineural hearing impairment
HP:0000413	Atresia of the external auditory canal
HP:0000414	Bulbous nose
HP:0000431	Wide nasal bridge
HP:0000448	Prominent nose

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST90002390_297	Mean corpuscular hemoglobin	4.000000e-10
GCST90002392_244	Mean corpuscular volume	4.000000e-15
GCST90002396_106	Mean reticulocyte volume	4.000000e-31
GCST90002397_162	Mean spheric corpuscular volume	2.000000e-23

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004527	mean corpuscular hemoglobin
EFO:0010701	mean reticulocyte volume

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D065886	Neurodevelopmental Disorders	F03.625
C564469	Lymphoproliferative Syndrome, X-Linked, 2 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

Clinical evidence (CIViC)

Drug × variant × indication: 1 predictive associations from 1 curated evidence items; also 5 prognostic.

Variant	Therapy	Indication	Effect	Level	CIViC
STAG2 Underexpression	Vemurafenib	Melanoma	Resistance	CIViC D	EID1659

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression	4
Benzo(a)pyrene	affects methylation, increases expression, increases methylation	3
Endosulfan	decreases expression	3
bisphenol A	affects cotreatment, increases methylation, decreases expression	2
methacrylaldehyde	affects cotreatment, decreases expression, increases oxidation, increases abundance	2
Acrolein	affects cotreatment, decreases expression, increases oxidation, increases abundance	2
Ozone	affects cotreatment, decreases expression, increases oxidation, increases abundance	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	2
FR900359	increases phosphorylation	1
echimidine	decreases expression, increases metabolic processing	1
dicrotophos	decreases expression	1
2,4,6-tribromophenol	decreases expression	1
lasiocarpine	decreases expression, increases metabolic processing	1
alpha-pinene	affects cotreatment, decreases expression, increases oxidation, increases abundance	1
titanium dioxide	increases methylation	1
decabromobiphenyl ether	increases expression	1
riddelliine	decreases expression, increases metabolic processing	1
arsenite	affects binding, decreases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	increases expression, affects cotreatment, increases abundance	1
tetrabromobisphenol A	increases expression	1
benzo(e)pyrene	increases methylation	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
coumarin	affects phosphorylation	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
scriptaid	affects expression	1
ICG 001	decreases expression	1
pentabrominated diphenyl ether 100	increases expression	1

Cellosaurus cell lines

42 cell lines: 32 cancer cell line, 6 telomerase immortalized cell line, 3 spontaneously immortalized cell line, 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_0627	SK-ES-1	Cancer cell line	Male
CVCL_1202	ES6	Cancer cell line	Male
CVCL_1216	EW-3	Cancer cell line	Male
CVCL_1411	MHH-ES-1	Cancer cell line	Male
CVCL_2034	EN	Cancer cell line	Female
CVCL_4W01	BHP2-7 Pazopanib selected	Cancer cell line	Female
CVCL_4Z33	TC-240	Cancer cell line	Male
CVCL_4Z37	TC-4C	Cancer cell line	Male
CVCL_6278	BHP 10-3	Cancer cell line	Female
CVCL_6283	BHP 2-7	Cancer cell line	Female

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
NCT03113760	PHASE3	COMPLETED	Therapeutic Use of Tadekinig Alfa in NLRC4 Mutation and XIAP Deficiency
NCT03512314	PHASE3	COMPLETED	Therapeutic Use of Tadekinig Alfa in NLRC4 Mutation and XIAP Deficiency As Open Label Extension
NCT06309823	PHASE3	COMPLETED	A Single-patient Clinical Trial of MAS825 in a Patient With XIAP Deficiency
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
NCT07433621	PHASE1	RECRUITING	Quercetin in Patients With XIAP (X-linked Inhibitor of Apoptosis) Deficiency
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