SMARCC2

Summary

SMARCC2 (SWI/SNF related BAF chromatin remodeling complex subunit C2, HGNC:11105) is a protein-coding gene on chromosome 12q13.2, encoding SWI/SNF complex subunit SMARCC2 (Q8TAQ2). Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology).

The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and contains a predicted leucine zipper motif typical of many transcription factors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 6601 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Coffin-Siris syndrome (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 2
• Clinical variants (ClinVar): 460 total — 22 pathogenic, 29 likely-pathogenic
• Phenotypes (HPO): 80
• Druggable target: yes
• MANE Select transcript: NM_001330288

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11105
Approved symbol	SMARCC2
Name	SWI/SNF related BAF chromatin remodeling complex subunit C2
Location	12q13.2
Locus type	gene with protein product
Status	Approved
Aliases	BAF170, Rsc8, CRACC2
Ensembl gene	ENSG00000139613
Ensembl biotype	protein_coding
OMIM	601734
Entrez	6601

Gene structure

Transcript identifiers

Ensembl transcripts: 31 — 20 protein_coding, 7 retained_intron, 2 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay

ENST00000267064, ENST00000347471, ENST00000394023, ENST00000547356, ENST00000548130, ENST00000549209, ENST00000549757, ENST00000550150, ENST00000550164, ENST00000550519, ENST00000550859, ENST00000552566, ENST00000552627, ENST00000552674, ENST00000552931, ENST00000866390, ENST00000866391, ENST00000866392, ENST00000866393, ENST00000866394, ENST00000866395, ENST00000866396, ENST00000866397, ENST00000866398, ENST00000939454, ENST00000941977, ENST00000941978, ENST00000941979, ENST00000941980, ENST00000941981, ENST00000941982

RefSeq mRNA: 4 — MANE Select: NM_001330288 NM_001130420, NM_001330288, NM_003075, NM_139067

CCDS: CCDS55835, CCDS81698, CCDS8907, CCDS8908

Canonical transcript exons

ENST00000550164 — 29 exons

Exon	Start	End
ENSE00001059585	56164303	56164731
ENSE00002400897	56162359	56163765
ENSE00002427547	56189351	56189483
ENSE00003460391	56173696	56173849
ENSE00003462231	56168060	56168194
ENSE00003463062	56172937	56173029
ENSE00003469894	56186155	56186240
ENSE00003470649	56182004	56182079
ENSE00003492371	56172428	56172490
ENSE00003496872	56178404	56178534
ENSE00003501751	56180977	56181101
ENSE00003503316	56170144	56170208
ENSE00003508555	56171679	56171937
ENSE00003515917	56178022	56178093
ENSE00003519663	56184175	56184244
ENSE00003544494	56165318	56165699
ENSE00003545535	56187187	56187306
ENSE00003558554	56183861	56183930
ENSE00003563791	56181704	56181835
ENSE00003568324	56184844	56184936
ENSE00003569843	56171271	56171432
ENSE00003581962	56181482	56181597
ENSE00003597792	56174651	56174764
ENSE00003598738	56172585	56172704
ENSE00003608530	56178997	56179056
ENSE00003627751	56169529	56169695
ENSE00003634388	56169776	56169911
ENSE00003644433	56178810	56178847
ENSE00003687212	56185030	56185111

Expression profiles

Bgee: expression breadth ubiquitous, 299 present calls, max score 97.94.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.6451 / max 151.3790, expressed in 1812 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
131489	19.4154	1811
131488	0.8617	483
131492	0.6737	325
131490	0.5616	294
131491	0.1328	53

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ventricular zone	UBERON:0003053	97.94	gold quality
ganglionic eminence	UBERON:0004023	97.79	gold quality
cortical plate	UBERON:0005343	97.28	gold quality
left ovary	UBERON:0002119	96.95	gold quality
right lobe of thyroid gland	UBERON:0001119	96.86	gold quality
right ovary	UBERON:0002118	96.82	gold quality
right hemisphere of cerebellum	UBERON:0014890	96.79	gold quality
sural nerve	UBERON:0015488	96.78	gold quality
cerebellar hemisphere	UBERON:0002245	96.75	gold quality
body of uterus	UBERON:0009853	96.74	gold quality
left lobe of thyroid gland	UBERON:0001120	96.73	gold quality
cerebellar cortex	UBERON:0002129	96.72	gold quality
endocervix	UBERON:0000458	96.56	gold quality
cerebellum	UBERON:0002037	96.43	gold quality
mucosa of stomach	UBERON:0001199	96.37	gold quality
calcaneal tendon	UBERON:0003701	96.37	gold quality
metanephros cortex	UBERON:0010533	96.27	gold quality
thyroid gland	UBERON:0002046	96.13	gold quality
right uterine tube	UBERON:0001302	96.11	gold quality
tibial nerve	UBERON:0001323	95.90	gold quality
right frontal lobe	UBERON:0002810	95.88	gold quality
left uterine tube	UBERON:0001303	95.79	gold quality
ectocervix	UBERON:0012249	95.77	gold quality
popliteal artery	UBERON:0002250	95.70	gold quality
tibial artery	UBERON:0007610	95.70	gold quality
lower esophagus muscularis layer	UBERON:0035833	95.69	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	95.69	gold quality
lower esophagus	UBERON:0013473	95.67	gold quality
muscle layer of sigmoid colon	UBERON:0035805	95.62	gold quality
nipple	UBERON:0002030	95.53	gold quality

Single-cell (SCXA)

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

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

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

1 targets.

Target	Regulation
KLF1	Unknown

miRNA regulators (miRDB)

127 targeting SMARCC2, 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-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-3689D	100.00	66.14	1181
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-302A-3P	99.89	71.23	1777
HSA-MIR-302B-3P	99.89	71.23	1777
HSA-MIR-302C-3P	99.89	71.20	1778
HSA-MIR-302D-3P	99.89	71.25	1777
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-7845-5P	99.88	64.88	771

Literature-anchored findings (GeneRIF, showing 12)

• protein levels of BAF155/170 dictate the maximum cellular amount of BAF57 (PMID:16199878)
• study finds Baf53 and Baf170 are highly regulated in HIV-1-infected cells (PMID:21699904)
• Identification of frameshift mutations in the SMARCC2 gene in gastric and colorectal cancers with microsatellite instability. (PMID:23030715)
• our data showed that Swi3 strongly affects haem/oxygen-dependent activation of respiration gene promoters whereas Swi2 affects only the basal, haem-independent activities of these promoters. using computational analysis and RNAi knockdown, we showed that the mammalian Swi3 BAF155 and BAF170 regulate respiration in HeLa cells. (PMID:27190130)
• BAF170 is important for neurogenesis in embryonic olfactory epithelium. (PMID:27611684)
• findings suggest a novel SMARCC2-related syndrome that overlaps with neurodevelopmental disorders associated with variants in BAF-complex subunits (PMID:30580808)
• Results identified phosphosites in SMARCC2 and provide evidence for its role in neuronal differentiation. (PMID:31819260)
• SMARCC2 combined with cMyc inhibits the migration and invasion of glioma cells via modulation of the Wnt/betacatenin signaling pathway. (PMID:34080022)
• Further supporting SMARCC2-related neurodevelopmental disorder through exome analysis and reanalysis in two patients. (PMID:34881817)
• SMARCC2 mediates the regulation of DKK1 by the transcription factor EGR1 through chromatin remodeling to reduce the proliferative capacity of glioblastoma. (PMID:36418306)
• FBXO28 promotes proliferation, invasion, and metastasis of pancreatic cancer cells through regulation of SMARCC2 ubiquitination. (PMID:37348029)
• Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals. (PMID:37551667)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	smarcc2	ENSDARG00000077946
mus_musculus	Smarcc2	ENSMUSG00000025369
rattus_norvegicus	Smarcc2	ENSRNOG00000031135

Paralogs (3): MPND (ENSG00000008382), MYSM1 (ENSG00000162601), SMARCC1 (ENSG00000173473)

Protein

Protein identifiers

SWI/SNF complex subunit SMARCC2 — Q8TAQ2 (reviewed: Q8TAQ2)

Alternative names: BRG1-associated factor 170, SWI/SNF complex 170 kDa subunit, SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily C member 2

All UniProt accessions (3): Q8TAQ2, F8VXC8, F8VZW6

UniProt curated annotations — full annotation on UniProt →

Function. Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Can stimulate the ATPase activity of the catalytic subunit of these complexes. May be required for CoREST dependent repression of neuronal specific gene promoters in non-neuronal cells. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth. Critical regulator of myeloid differentiation, controlling granulocytopoiesis and the expression of genes involved in neutrophil granule formation.

Subunit / interactions. Component of the multiprotein chromatin-remodeling complexes SWI/SNF: SWI/SNF-A (BAF), SWI/SNF-B (PBAF) and related complexes. The canonical complex contains a catalytic subunit (either SMARCA4/BRG1/BAF190A or SMARCA2/BRM/BAF190B) and at least SMARCE1, ACTL6A/BAF53, SMARCC1/BAF155, SMARCC2/BAF170, and SMARCB1/SNF5/BAF47. Other subunits specific to each of the complexes may also be present permitting several possible combinations developmentally and tissue specific. Component of the BAF complex, which includes at least actin (ACTB), ARID1A/BAF250A, ARID1B/BAF250B, SMARCA2/BRM, SMARCA4/BRG1, ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57, SMARCC1/BAF155, SMARCC2/BAF170, SMARCB1/SNF5/INI1, and one or more SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C. In muscle cells, the BAF complex also contains DPF3. Component of neural progenitors-specific chromatin remodeling complex (npBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, PHF10/BAF45A, ACTL6A/BAF53A and actin. Component of neuron-specific chromatin remodeling complex (nBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, DPF1/BAF45B, DPF3/BAF45C, ACTL6B/BAF53B and actin. Component of the SWI/SNF-B (PBAF) chromatin remodeling complex, at least composed of SMARCA4/BRG1, SMARCB1/BAF47/SNF5, ACTL6A/BAF53A or ACTL6B/BAF53B, SMARCE1/BAF57, SMARCD1/BAF60A, SMARCD2/BAF60B, perhaps SMARCD3/BAF60C, SMARCC1/BAF155, SMARCC2/BAF170, PBRM1/BAF180, ARID2/BAF200 and actin. May also interact with the SIN3A histone deacetylase transcription repressor complex in conjunction with SMARCA2 and SMARCA4. Interacts with SMARD1. Interacts with KDM6B. Interaction with RCOR1. Interacts with DPF2. Interacts with ERCC6. Interacts with FOS.

Subcellular location. Nucleus.

Tissue specificity. Ubiquitously expressed.

Post-translational modifications. Mono-ADP-ribosylation at Lys-312 by SIRT6 promotes recruitment to the enhancer region of the Heme oxygenase-1 (HO-1) locus, leading to transcription activation of the locus.

Disease relevance. Coffin-Siris syndrome 8 (CSS8) [MIM:618362] A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. CSS8 patients manifest prominent speech impairment, hypotonia, feeding difficulties, behavioral abnormalities, and dysmorphic features such as hypertrichosis, thick eyebrows, thin upper lip vermilion, and upturned nose. CSS8 inheritance is autosomal dominant. The disease may be caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the SMARCC family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q8TAQ2-1	1, SMARCC2a	yes
Q8TAQ2-2	2, SMARCC2b
Q8TAQ2-3	3

RefSeq proteins (4): NP_001123892, NP_001317217, NP_003066, NP_620706 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000953	Chromo/chromo_shadow_dom	Domain
IPR001005	SANT/Myb	Domain
IPR007526	SWIRM	Domain
IPR009057	Homeodomain-like_sf	Homologous_superfamily
IPR017884	SANT_dom	Domain
IPR032448	SWIRM-assoc	Domain
IPR032450	SMARCC_N	Domain
IPR032451	SMARCC_C	Domain
IPR036388	WH-like_DNA-bd_sf	Homologous_superfamily
IPR036420	BRCT_dom_sf	Homologous_superfamily
IPR049898	MARR_BRCT_CHROMO	Domain

Pfam: PF00249, PF04433, PF16495, PF16496, PF16498

UniProt features (85 total): helix 15, modified residue 11, compositionally biased region 10, sequence variant 8, strand 8, cross-link 7, sequence conflict 7, domain 6, region of interest 6, splice variant 3, turn 2, chain 1, coiled-coil region 1

Structure

Experimental structures (PDB)

9 structures.

PDB	Method	Resolution (Å)
6KAG	X-RAY DIFFRACTION	2.6
6LTH	ELECTRON MICROSCOPY	3
7VDV	ELECTRON MICROSCOPY	3.4
9RL4	ELECTRON MICROSCOPY	3.5
6LTJ	ELECTRON MICROSCOPY	3.7
9RN2	ELECTRON MICROSCOPY	4.1
9RMC	ELECTRON MICROSCOPY	4.2
7Y8R	ELECTRON MICROSCOPY	4.4
9RN1	ELECTRON MICROSCOPY	5.9

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8TAQ2-F1	64.89	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 (18): 283, 286, 302, 304, 306, 312, 326, 347, 387, 548, 813, 564, 566, 568, 592, 704, 787, 848

Function

Pathways and Gene Ontology

Reactome pathways

19 pathways

ID	Pathway
R-HSA-3214858	RMTs methylate histone arginines
R-HSA-8939243	RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
R-HSA-9824585	Regulation of MITF-M-dependent genes involved in pigmentation
R-HSA-9845323	Regulation of endogenous retroelements by Piwi-interacting RNAs (piRNAs)
R-HSA-9933939	Formation of the polybromo-BAF (pBAF) complex
R-HSA-9933946	Formation of the embryonic stem cell BAF (esBAF) complex
R-HSA-9933947	Formation of the non-canonical BAF (ncBAF) complex
R-HSA-9934037	Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF)
R-HSA-1266738	Developmental Biology
R-HSA-212165	Epigenetic regulation of gene expression
R-HSA-212436	Generic Transcription Pathway
R-HSA-3247509	Chromatin modifying enzymes
R-HSA-4839726	Chromatin organization
R-HSA-73857	RNA Polymerase II Transcription
R-HSA-74160	Gene expression (Transcription)
R-HSA-8878171	Transcriptional regulation by RUNX1
R-HSA-9730414	MITF-M-regulated melanocyte development
R-HSA-9842860	Regulation of endogenous retroelements
R-HSA-9856651	MITF-M-dependent gene expression

MSigDB gene sets: 465 (showing top): GOBP_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR, GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_CHROMOSOME_ORGANIZATION, GOBP_POSITIVE_REGULATION_OF_HEMOPOIESIS, GOBP_CELL_CYCLE_PHASE_TRANSITION, TGACCTY_ERR1_Q2, PID_REG_GR_PATHWAY, GOBP_REGULATION_OF_DNA_REPAIR, GOBP_POSITIVE_REGULATION_OF_CELL_ADHESION, GOBP_CELL_CELL_ADHESION, MORF_TERF1, GOBP_REGULATION_OF_LEUKOCYTE_DIFFERENTIATION, GOBP_NUCLEOTIDE_EXCISION_REPAIR, GOBP_REGULATION_OF_MYOBLAST_DIFFERENTIATION, GOBP_REGULATION_OF_HEMOPOIESIS

GO Biological Process (19): nucleosome disassembly (GO:0006337), chromatin remodeling (GO:0006338), regulation of transcription by RNA polymerase II (GO:0006357), nervous system development (GO:0007399), regulation of mitotic metaphase/anaphase transition (GO:0030071), positive regulation of T cell differentiation (GO:0045582), positive regulation of cell differentiation (GO:0045597), positive regulation of myoblast differentiation (GO:0045663), negative regulation of DNA-templated transcription (GO:0045892), positive regulation of DNA-templated transcription (GO:0045893), regulation of G0 to G1 transition (GO:0070316), regulation of G1/S transition of mitotic cell cycle (GO:2000045), positive regulation of double-strand break repair (GO:2000781), regulation of nucleotide-excision repair (GO:2000819), negative regulation of transcription by RNA polymerase II (GO:0000122), chromatin organization (GO:0006325), regulation of DNA-templated transcription (GO:0006355), transcription by RNA polymerase II (GO:0006366), forebrain neuron fate commitment (GO:0021877)

GO Molecular Function (5): transcription coactivator activity (GO:0003713), histone binding (GO:0042393), chromatin binding (GO:0003682), protein binding (GO:0005515), nucleosomal DNA binding (GO:0031492)

GO Cellular Component (12): kinetochore (GO:0000776), chromatin (GO:0000785), nucleoplasm (GO:0005654), nuclear matrix (GO:0016363), SWI/SNF complex (GO:0016514), RSC-type complex (GO:0016586), protein-containing complex (GO:0032991), brahma complex (GO:0035060), npBAF complex (GO:0071564), nBAF complex (GO:0071565), bBAF complex (GO:0140092), nucleus (GO:0005634)

Reactome top-level categories

Rollup of top-12 pathways:

Category	Pathways
SWI/SNF chromatin remodelers	4
Gene expression (Transcription)	2
Chromatin modifying enzymes	1
Transcriptional regulation by RUNX1	1
MITF-M-dependent gene expression	1
Regulation of endogenous retroelements	1
RNA Polymerase II Transcription	1
Chromatin organization	1
Generic Transcription Pathway	1
Developmental Biology	1
Epigenetic regulation of gene expression	1
MITF-M-regulated melanocyte development	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
SWI/SNF superfamily-type complex	6
DNA-templated transcription	4
regulation of DNA-templated transcription	3
cellular anatomical structure	3
transcription by RNA polymerase II	2
regulation of mitotic cell cycle phase transition	2
binding	2
nuclear lumen	2
protein-DNA complex disassembly	1
nucleosome organization	1
chromatin organization	1
system development	1
metaphase/anaphase transition of mitotic cell cycle	1
regulation of metaphase/anaphase transition of cell cycle	1
T cell differentiation	1
regulation of T cell differentiation	1
positive regulation of lymphocyte differentiation	1
positive regulation of T cell activation	1
cell differentiation	1
regulation of cell differentiation	1
positive regulation of cellular process	1
positive regulation of developmental process	1
myoblast differentiation	1
positive regulation of cell differentiation	1
regulation of myoblast differentiation	1
negative regulation of RNA biosynthetic process	1
positive regulation of RNA biosynthetic process	1
regulation of cell cycle process	1
G0 to G1 transition	1
G1/S transition of mitotic cell cycle	1
regulation of cell cycle G1/S phase transition	1
double-strand break repair	1
positive regulation of DNA repair	1
regulation of double-strand break repair	1
regulation of DNA repair	1
nucleotide-excision repair	1
regulation of transcription by RNA polymerase II	1
negative regulation of DNA-templated transcription	1
cellular component organization	1
regulation of gene expression	1

Protein interactions and networks

STRING

2760 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SMARCC2	SMARCE1	Q969G3	999
SMARCC2	SMARCB1	Q12824	999
SMARCC2	SMARCA4	P51532	999
SMARCC2	SMARCD1	Q96GM5	999
SMARCC2	ARID1A	O14497	995
SMARCC2	SMARCA2	P51531	995
SMARCC2	ACTL6A	O96019	995
SMARCC2	SMARCD2	Q92925	990
SMARCC2	SMARCD3	Q6STE5	989
SMARCC2	SMARCC1	Q92922	983
SMARCC2	PBRM1	Q86U86	977
SMARCC2	ARID1B	Q8NFD5	957
SMARCC2	ARID2	Q68CP9	945
SMARCC2	ACTL6B	O94805	909
SMARCC2	PHF10	Q8WUB8	878

IntAct

227 interactions, top by confidence:

A	B	Type	Score
SMARCA4	SMARCB1	psi-mi:“MI:0914”(association)	0.960
SMARCA4	ARID1A	psi-mi:“MI:0914”(association)	0.940
SMARCB1	SMARCC2	psi-mi:“MI:0914”(association)	0.900
SMARCB1	ARID1A	psi-mi:“MI:0914”(association)	0.860
SMARCE1	SMARCA4	psi-mi:“MI:0914”(association)	0.840
SMARCE1	ARID1A	psi-mi:“MI:0914”(association)	0.840
NUP50	KPNA4	psi-mi:“MI:0914”(association)	0.830
SMARCD1	SMARCC2	psi-mi:“MI:0915”(physical association)	0.800
SMARCD1	SMARCC2	psi-mi:“MI:0914”(association)	0.800
PBRM1	SMARCA4	psi-mi:“MI:0914”(association)	0.800
SMARCC1	ARID1A	psi-mi:“MI:0914”(association)	0.790
SMARCD1	ARID1A	psi-mi:“MI:0914”(association)	0.790
SMARCC2	ARID1A	psi-mi:“MI:0914”(association)	0.790

BioGRID (699): SMARCC2 (Affinity Capture-RNA), SMARCC2 (Affinity Capture-RNA), SMARCC2 (Affinity Capture-RNA), SMARCC2 (Affinity Capture-MS), SMARCC2 (Affinity Capture-MS), SMARCC2 (Affinity Capture-MS), SMARCC2 (Affinity Capture-MS), SMARCC2 (Affinity Capture-MS), SMARCC2 (Affinity Capture-MS), SMARCC2 (Affinity Capture-MS), SMARCC2 (Affinity Capture-MS), SMARCC2 (Affinity Capture-MS), SMARCC2 (Affinity Capture-MS), SMARCC2 (Affinity Capture-MS), ACTL6A (Co-fractionation)

ESM2 similar proteins: A0A0R4IXF6, A1A5R8, A9ZLX4, D3YXJ0, E9PUQ8, G3UZ78, O00750, O15164, O54828, P30052, P40818, P48984, P52963, P59997, P97496, Q02225, Q08AX9, Q08BR4, Q08D35, Q16760, Q1LUC3, Q2I6J1, Q3UWM4, Q498F0, Q5JSH3, Q5JTW2, Q5RHD1, Q60665, Q64398, Q68FF0, Q6INA9, Q6NSI8, Q6NVE8, Q6PDG5, Q6ZMT4, Q7ZVP1, Q80U87, Q86XP1, Q8C5W4, Q8N7X0

Diamond homologs: A0A0G3VTN5, A0JMR6, B6MUN4, D4GTS4, P32591, P97496, Q08CH3, Q54Z40, Q5F3F2, Q5RGA4, Q5VVJ2, Q69Z66, Q6CRJ8, Q6PDG5, Q6R0H0, Q84JG2, Q8H0W3, Q8RWU3, Q8SQY3, Q8TAQ2, Q92922, Q9FVU9, Q3TV65, Q8N594, Q8U1Y4, O13788, O14470, P43609, Q8W475, Q0JCC3, Q54J55, Q75LL6, Q8VY05, Q9ATB4, Q9SFD5, Q53KK6, Q9P7J7, Q9XI07, B3H5A8, F4J2J6

SIGNOR signaling

11 interactions.

A	Effect	B	Mechanism
SMARCC2	“form complex”	“SWI/SNF complex”	binding
SMARCC2	“form complex”	“SWI/SNF ACTL6A-ARID1A-SMARCA2 variant”	binding
SMARCC2	“form complex”	“SWI/SNF ACTL6B varian”	binding
SMARCC2	“form complex”	“Neural progenitor-specific SWI/SNF”	binding
SMARCC2	“form complex”	“Muscle cell-specific SWI/SNF ARID1A variant”	binding
SMARCC2	“form complex”	“Muscle cell-specific SWI/SNF ARID1B variant”	binding
SMARCC2	“form complex”	“Muscle cell-specific SWI/SNF SMARCA4 variant”	binding
SMARCC2	“form complex”	“Brain-specific SWI/SNF SMARCA2 variant”	binding
SMARCC2	“form complex”	“Brain-specific SWI/SNF SMARCA4 variant”	binding
SMARCA2	up-regulates	SMARCC2	binding
SMARCA4	up-regulates	SMARCC2	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 173 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
Formation of the canonical BAF (cBAF) complex	16	80.6×	1e-27
Formation of the polybromo-BAF (pBAF) complex	15	75.5×	4e-25
Formation of the embryonic stem cell BAF (esBAF) complex	15	71.5×	1e-24
Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF)	19	68.9×	2e-30
Formation of the non-canonical BAF (ncBAF) complex	12	64.0×	1e-18
Regulation of endogenous retroelements	15	43.9×	7e-20
Regulation of MITF-M-dependent genes involved in pigmentation	18	37.9×	1e-22
RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known	15	35.8×	2e-18

GO biological processes:

GO term	Partners	Fold	FDR
regulation of G0 to G1 transition	19	84.3×	1e-31
regulation of nucleotide-excision repair	19	75.2×	2e-30
regulation of mitotic metaphase/anaphase transition	19	62.0×	3e-28
nucleosome disassembly	9	47.5×	9e-12
positive regulation of T cell differentiation	15	45.0×	1e-19
positive regulation of double-strand break repair	19	43.0×	2e-24
positive regulation of myoblast differentiation	17	41.0×	2e-21
regulation of G1/S transition of mitotic cell cycle	20	40.3×	4e-25

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	22
Likely pathogenic	29
Uncertain significance	284
Likely benign	54
Benign	20

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1177371	NM_001330288.2(SMARCC2):c.1919T>C (p.Leu640Pro)	Pathogenic
1200145	NM_001330288.2(SMARCC2):c.956+1G>T	Pathogenic
1722383	NM_001330288.2(SMARCC2):c.3381_3388del (p.Ile1128fs)	Pathogenic
1879239	NM_001330288.2(SMARCC2):c.163C>T (p.Gln55Ter)	Pathogenic
1992356	NM_001330288.2(SMARCC2):c.1094_1097del (p.Lys365fs)	Pathogenic
2504195	NM_001330288.2(SMARCC2):c.1485_1486del (p.Ala496fs)	Pathogenic
2506488	NM_001330288.2(SMARCC2):c.1091del (p.Lys364fs)	Pathogenic
2506795	NM_001330288.2(SMARCC2):c.1019_1020del (p.Thr340fs)	Pathogenic
3067660	NM_001330288.2(SMARCC2):c.1958_1959del (p.Lys653fs)	Pathogenic
3381186	NM_001330288.2(SMARCC2):c.1496+1G>T	Pathogenic
3907738	NM_001330288.2(SMARCC2):c.1555C>T (p.Arg519Ter)	Pathogenic
3911745	NM_001330288.2(SMARCC2):c.2786del (p.Lys929fs)	Pathogenic
4072348	NM_001330288.2(SMARCC2):c.1101dup (p.Glu368fs)	Pathogenic
4278619	NM_001330288.2(SMARCC2):c.910del (p.Ser304fs)	Pathogenic
4281958	NM_001330288.2(SMARCC2):c.3160C>T (p.Gln1054Ter)	Pathogenic
4755671	NM_001330288.2(SMARCC2):c.3187dup (p.Gln1063fs)	Pathogenic
4795579	NM_001330288.2(SMARCC2):c.2412+1G>C	Pathogenic
623248	NM_001330288.2(SMARCC2):c.1311-3C>G	Pathogenic
623249	NM_001330288.2(SMARCC2):c.1922T>C (p.Leu641Pro)	Pathogenic
623250	NM_001330288.2(SMARCC2):c.723G>A (p.Trp241Ter)	Pathogenic
623251	NM_001330288.2(SMARCC2):c.2779A>G (p.Met927Val)	Pathogenic
931991	NM_001330288.2(SMARCC2):c.1926+1G>A	Pathogenic
1012821	NM_001330288.2(SMARCC2):c.3210_3211insAAG (p.Gly1070_Val1071insLys)	Likely pathogenic
1029506	NM_001330288.2(SMARCC2):c.1310+1G>T	Likely pathogenic
1064822	NM_001330288.2(SMARCC2):c.230C>T (p.Pro77Leu)	Likely pathogenic
1177369	NM_001330288.2(SMARCC2):c.880_881del (p.Gly294fs)	Likely pathogenic
1177370	NM_001330288.2(SMARCC2):c.888_889del (p.Tyr296_Lys297delinsTer)	Likely pathogenic
2429193	NM_001330288.2(SMARCC2):c.1497-2A>G	Likely pathogenic
2431773	NM_001330288.2(SMARCC2):c.1496+2T>G	Likely pathogenic
2442001	NM_001330288.2(SMARCC2):c.1396C>T (p.Arg466Ter)	Likely pathogenic

SpliceAI

3378 predictions. Top by Δscore:

Variant	Effect	Δscore
12:56163766:C:CC	acceptor_gain	1.0000
12:56168056:TCACT:T	donor_loss	1.0000
12:56168057:CA:C	donor_loss	1.0000
12:56168058:A:AC	donor_gain	1.0000
12:56168058:ACTG:A	donor_gain	1.0000
12:56168059:C:CG	donor_gain	1.0000
12:56168059:CT:C	donor_gain	1.0000
12:56168059:CTG:C	donor_gain	1.0000
12:56168059:CTGC:C	donor_gain	1.0000
12:56168059:CTGCT:C	donor_gain	1.0000
12:56168190:AAGTG:A	acceptor_gain	1.0000
12:56168191:AGTG:A	acceptor_gain	1.0000
12:56168192:GTG:G	acceptor_gain	1.0000
12:56168193:TG:T	acceptor_gain	1.0000
12:56168193:TGCT:T	acceptor_loss	1.0000
12:56168194:GC:G	acceptor_loss	1.0000
12:56168195:C:CC	acceptor_gain	1.0000
12:56169533:G:C	donor_gain	1.0000
12:56169691:ATCGA:A	acceptor_gain	1.0000
12:56169692:TCGA:T	acceptor_gain	1.0000
12:56169693:CGA:C	acceptor_gain	1.0000
12:56169693:CGAC:C	acceptor_gain	1.0000
12:56169694:GA:G	acceptor_gain	1.0000
12:56169696:C:CA	acceptor_loss	1.0000
12:56169696:C:CC	acceptor_gain	1.0000
12:56169697:T:C	acceptor_loss	1.0000
12:56169702:C:CT	acceptor_gain	1.0000
12:56169703:A:T	acceptor_gain	1.0000
12:56169770:GCTCA:G	donor_loss	1.0000
12:56169774:A:AC	donor_gain	1.0000

AlphaMissense

8157 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:56165633:C:G	A942P	1.000
12:56165641:A:G	L939P	1.000
12:56165644:T:G	Q938P	1.000
12:56165653:T:G	H935P	1.000
12:56165654:G:C	H935D	1.000
12:56165655:G:C	F934L	1.000
12:56165655:G:T	F934L	1.000
12:56165656:A:C	F934C	1.000
12:56165656:A:G	F934S	1.000
12:56165657:A:G	F934L	1.000
12:56165664:T:A	R931S	1.000
12:56165664:T:G	R931S	1.000
12:56165665:C:A	R931I	1.000
12:56165665:C:G	R931T	1.000
12:56165672:C:G	A929P	1.000
12:56165674:A:G	L928P	1.000
12:56165677:A:G	L927P	1.000
12:56165680:T:G	Q926P	1.000
12:56165683:T:G	Q925P	1.000
12:56165685:C:A	R924S	1.000
12:56165685:C:G	R924S	1.000
12:56165686:C:A	R924M	1.000
12:56165686:C:G	R924T	1.000
12:56165689:T:G	Q923P	1.000
12:56165696:C:T	E921K	1.000
12:56165698:A:G	L920P	1.000
12:56165698:A:T	L920Q	1.000
12:56168062:C:G	A919P	1.000
12:56168067:C:G	R917P	1.000
12:56168069:C:A	E916D	1.000

dbSNP variants (sampled 300 via entrez): RS1000121145 (12:56162193 T>C), RS1000141943 (12:56183067 T>C), RS1000278484 (12:56162458 C>A,T), RS1000514258 (12:56175008 T>A,G), RS1000693520 (12:56184889 C>A,T), RS1000695631 (12:56168449 A>C,G,T), RS1000744035 (12:56184479 T>C), RS1000884112 (12:56167068 A>G), RS1001026406 (12:56188277 C>T), RS1001220667 (12:56168756 A>G), RS1001478681 (12:56185448 G>C,T), RS1001493702 (12:56167760 C>T), RS1001737659 (12:56173376 A>T), RS1001824885 (12:56185769 C>A,T), RS1001967414 (12:56180528 C>A,T)

Disease associations

OMIM: gene MIM:601734 | disease phenotypes: MIM:618362, MIM:135900, MIM:609943, MIM:614562

GenCC curated gene-disease

Disease	Classification	Inheritance
Coffin-Siris syndrome 8	Definitive	Autosomal dominant
Coffin-Siris syndrome	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
Coffin-Siris syndrome	Definitive	AD

Mondo (6): Coffin-Siris syndrome 8 (MONDO:0032702), neurodevelopmental disorder (MONDO:0700092), prostate cancer (MONDO:0008315), intellectual disability (MONDO:0001071), Coffin-Siris syndrome 1 (MONDO:0007617), Coffin-Siris syndrome (MONDO:0015452)

Orphanet (3): Familial prostate cancer (Orphanet:1331), Coffin-Siris syndrome (Orphanet:1465), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

80 total (30 of 80 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000023	Inguinal hernia
HP:0000028	Cryptorchidism
HP:0000047	Hypospadias
HP:0000085	Horseshoe kidney
HP:0000119	Abnormality of the genitourinary system
HP:0000154	Wide mouth
HP:0000179	Thick lower lip vermilion
HP:0000219	Thin upper lip vermilion
HP:0000252	Microcephaly
HP:0000280	Coarse facial features
HP:0000289	Broad philtrum
HP:0000294	Low anterior hairline
HP:0000365	Hearing impairment
HP:0000455	Broad nasal tip
HP:0000463	Anteverted nares
HP:0000486	Strabismus
HP:0000505	Visual impairment
HP:0000508	Ptosis
HP:0000527	Long eyelashes
HP:0000545	Myopia
HP:0000574	Thick eyebrow
HP:0000684	Delayed eruption of teeth
HP:0000708	Atypical behavior
HP:0000718	Aggressive behavior
HP:0000729	Autistic behavior
HP:0000750	Delayed speech and language development
HP:0000752	Hyperactivity
HP:0000964	Eczematoid dermatitis
HP:0000998	Hypertrichosis

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST008916_124	Asthma	1.000000e-16
GCST010002_217	Refractive error	6.000000e-174

MeSH disease descriptors (4)

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
D011471	Prostatic Neoplasms	C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750
C536436	Coffin-Siris syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5725099 (SINGLE PROTEIN)

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

ChEMBL bioactivities

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

pChembl	Type	Value	Unit	Molecule
8.24	Kd	5.798	nM	CHEMBL5653589
8.24	ED50	5.798	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 10 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149442: Binding affinity to human SMARCC2 incubated for 45 mins by Kinobead based pull down assay	kd	0.0058	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
bisphenol A	increases expression	1
beta-lapachone	decreases expression	1
arsenite	affects binding, increases reaction	1
sodium arsenite	increases expression	1
cobaltous chloride	decreases expression	1
butyraldehyde	decreases expression	1
coumarin	decreases phosphorylation	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
jinfukang	increases expression	1
Fulvestrant	decreases expression	1
Acetaminophen	decreases expression	1
Caffeine	decreases phosphorylation	1
Clozapine	affects cotreatment, decreases expression	1
Cuprizone	affects cotreatment, decreases expression	1
Demecolcine	increases expression	1
Dimethyl Sulfoxide	increases expression	1
Doxorubicin	decreases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Estradiol	decreases expression	1
Ivermectin	decreases expression	1
Lead	decreases expression	1
Smoke	decreases expression	1
Thimerosal	affects expression	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	decreases expression	1
Asbestos, Crocidolite	affects expression	1
Okadaic Acid	decreases expression	1

ChEMBL screening assays

7 unique, capped per target: 7 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5652484	Binding	Binding affinity to human SMARCC2 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Cellosaurus cell lines

8 cell lines: 5 cancer cell line, 3 embryonic stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_A6I7	SEES3-1V human SMARCC2, clone1	Embryonic stem cell	Male
CVCL_A6I8	SEES3-1V human SMARCC2, clone2	Embryonic stem cell	Male
CVCL_A6I9	SEES3-1V human SMARCC2, clone3	Embryonic stem cell	Male
CVCL_B7ZE	Abcam Raji SMARCC2 KO	Cancer cell line	Male
CVCL_C0A7	Abcam THP-1 SMARCC2 KO	Cancer cell line	Male
CVCL_C7BV	Abcam PC-3 SMARCC2 KO	Cancer cell line	Male
CVCL_TP57	HAP1 SMARCC2 (-) 1	Cancer cell line	Male
CVCL_XT54	HAP1 SMARCC2 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

202 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
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
NCT03229928	Not specified	COMPLETED	Clinical Testing of a Real-Time Behavior Measurement Tool: Measuring Outcomes for CHAnge
NCT03232489	Not specified	UNKNOWN	Study for the Evaluation of the Feasibility of Applying Advanced MRI Scanning in Pediatric Clinical Practice