SMARCA5

Summary

SMARCA5 (SNF2 related chromatin remodeling ATPase 5, HGNC:11101) is a protein-coding gene on chromosome 4q31.21, encoding SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5 (O60264). ATPase that possesses intrinsic ATP-dependent nucleosome-remodeling activity. It is a selective cancer dependency (DepMap: 32.4% of cell lines).

The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The protein encoded by this gene is a component of the chromatin remodeling and spacing factor RSF, a facilitator of the transcription of class II genes by RNA polymerase II. The encoded protein is similar in sequence to the Drosophila ISWI chromatin remodeling protein.

Source: NCBI Gene 8467 — RefSeq curated summary.

At a glance

• Gene–disease (curated): complex neurodevelopmental disorder (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 5
• Clinical variants (ClinVar): 148 total — 3 pathogenic, 6 likely-pathogenic
• Phenotypes (HPO): 1
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 32.4% of screened cell lines
• Transcription factor: yes — 17 downstream targets (CollecTRI)
• MANE Select transcript: NM_003601

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11101
Approved symbol	SMARCA5
Name	SNF2 related chromatin remodeling ATPase 5
Location	4q31.21
Locus type	gene with protein product
Status	Approved
Aliases	hSNF2H, hISWI, ISWI
Ensembl gene	ENSG00000153147
Ensembl biotype	protein_coding
OMIM	603375
Entrez	8467

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 12 protein_coding, 2 retained_intron

ENST00000283131, ENST00000508573, ENST00000515531, ENST00000885350, ENST00000913618, ENST00000913619, ENST00000913620, ENST00000913621, ENST00000940951, ENST00000940952, ENST00000940953, ENST00000940954, ENST00000940955, ENST00000940956

RefSeq mRNA: 1 — MANE Select: NM_003601 NM_003601

CCDS: CCDS3761

Canonical transcript exons

ENST00000283131 — 24 exons

Exon	Start	End
ENSE00001009107	143525451	143525551
ENSE00001009109	143517355	143517429
ENSE00001081928	143543853	143543972
ENSE00001081932	143545925	143546047
ENSE00001081933	143544737	143544847
ENSE00001081936	143547928	143548140
ENSE00001081937	143540363	143540495
ENSE00001081939	143549997	143550104
ENSE00001139601	143538786	143538938
ENSE00001139608	143538590	143538711
ENSE00001139616	143536452	143536678
ENSE00001139625	143534855	143534964
ENSE00001139635	143530458	143530526
ENSE00001139641	143528583	143528714
ENSE00001139646	143527868	143528023
ENSE00001139665	143521429	143521595
ENSE00001200897	143526281	143526460
ENSE00001200899	143524367	143524467
ENSE00001291633	143547385	143547503
ENSE00001314098	143553119	143557486
ENSE00001318912	143513702	143514101
ENSE00001328681	143543509	143543657
ENSE00001640366	143545470	143545583
ENSE00001775821	143546776	143546908

Expression profiles

Bgee: expression breadth ubiquitous, 300 present calls, max score 97.76.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 76.4078 / max 598.5966, expressed in 1821 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
49859	50.5385	1819
49856	25.8693	1794

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ventricular zone	UBERON:0003053	97.76	gold quality
calcaneal tendon	UBERON:0003701	97.72	gold quality
buccal mucosa cell	CL:0002336	96.55	gold quality
ganglionic eminence	UBERON:0004023	96.43	gold quality
choroid plexus epithelium	UBERON:0003911	96.26	gold quality
adrenal tissue	UBERON:0018303	96.18	gold quality
corpus callosum	UBERON:0002336	95.99	gold quality
embryo	UBERON:0000922	95.96	gold quality
superior vestibular nucleus	UBERON:0007227	95.69	gold quality
subthalamic nucleus	UBERON:0001906	95.58	gold quality
epithelium of nasopharynx	UBERON:0001951	95.55	gold quality
nasopharynx	UBERON:0001728	95.54	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	95.45	gold quality
inferior vagus X ganglion	UBERON:0005363	95.45	gold quality
medial globus pallidus	UBERON:0002477	95.40	gold quality
globus pallidus	UBERON:0001875	95.27	gold quality
cauda epididymis	UBERON:0004360	95.25	gold quality
stromal cell of endometrium	CL:0002255	95.20	gold quality
oocyte	CL:0000023	95.12	gold quality
corpus epididymis	UBERON:0004359	95.12	gold quality
tibia	UBERON:0000979	95.02	gold quality
medulla oblongata	UBERON:0001896	94.94	gold quality
substantia nigra pars compacta	UBERON:0001965	94.92	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	94.87	gold quality
visceral pleura	UBERON:0002401	94.77	gold quality
lower lobe of lung	UBERON:0008949	94.72	gold quality
tendon	UBERON:0000043	94.69	gold quality
superficial temporal artery	UBERON:0001614	94.68	gold quality
caput epididymis	UBERON:0004358	94.67	gold quality
trabecular bone tissue	UBERON:0002483	94.63	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-GEOD-93593	no	6.66
E-ANND-3	no	0.00

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

17 targets.

Target	Regulation
ADH1B
BMP4
CASR
CCND1
CDT1
CECR2
CHD1
CREBBP
CRYAA
DNAH8
IL2	Repression
IL3	Activation
INO80
NOTCH1
OGA
SMARCA1
WNT5B

Upstream regulators (CollecTRI, top): E2F1, E2F4

miRNA regulators (miRDB)

192 targeting SMARCA5, 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-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-3689D	100.00	66.14	1181
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-3134	100.00	66.43	777
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-33A-5P	99.99	68.62	1055
HSA-MIR-33B-5P	99.99	68.58	1062
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-551B-5P	99.96	71.28	3493

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 32.4% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 40)

• Human RSF is composed of two subunits: ATPase hSNF2H and p325 (Rsf-1). (PMID:12972596)
• WSTF-ISWI complex has a role in the maintenance of chromatin structures during DNA replication. (PMID:15543136)
• Nuclear myosin 1 (NM1)-Williams syndrome transcription factor (WSTF)-SMARCA5/SNF2h complex binds RNA polymerase I and ribosomal DNA rDNA). (PMID:16514417)
• WSTF-SNF2h-NM1 forms a platform in transcription while providing chromatin remodeling (PMID:16603771)
• ACF1 alters the remodeling strategy of SNF2h (PMID:16877760)
• findings suggest that interaction between Rsf-1 and hSNF2H may define a survival signal in those tumors overexpressing Rsf-1 (PMID:18519663)
• The ability to sense adjacent DNA is a general property of the binding partners of SNF2h and that each partner provides distinct regulation that contributes to distinct cellular function. (PMID:18553938)
• Data conclude that H2A.Z incorporation increases nucleosome remodeling activity of the largest class of mammalian remodelers (ISWI) and that it correlates with increased association of other remodelers to chromatin. (PMID:19940112)
• ISWI remodelers operate via a “continuous sampling” mechanism. (PMID:20974961)
• This is the first description of a fusion between EWSR1 and a chromatin-reorganizing gene(SMARCA5) in Ewing sarcoma/PNET. (PMID:21113140)
• The ATP-dependent chromatin-remodeling factor, SNF2H, accumulate rapidly at DSBs and is required for DSB repair in human cells. (PMID:21172662)
• SNF2H is required for efficient HSV-1 replication and promotes virus immediate-early gene expression. (PMID:21249171)
• SMARCA5 has a potential role in proliferation and malignancy in gastric carcinogenesis. (PMID:21261476)
• [review] Biochemical analysis using a mutant Vpr HIV-1 gene suggests that Vpr binds chromatin-remodeling factor SNF2h via HFRIG (i.e., amino acids 71-75). (PMID:21519849)
• ISWI proteins Snf2H, Snf2L as well as Acf1 accumulate at UV-induced DNA damage sites within tens of seconds and reach a plateau after a few minutes. (PMID:21738833)
• These results demonstrate a novel role for ISWI (SNF2h) as a survival factor during the cellular response to hypoxia (PMID:21900490)
• Cdt1- and SNF2H-mediated promotion of MCM loading may be biologically relevant for the regulation of DNA replication. (PMID:21937426)
• Functional interaction is characterized between C/EBPbeta and SNF2H/ACF1, involving mainly suppression of C/EBPbeta transactivation activity in the presence of SNF2H and ACF1. (PMID:22242598)
• Introduction of the miR-99 family of miRNAs into cells reduced the rate and overall efficiency of repair by both homologous recombination and non-homologous end joining. (PMID:22525276)
• study unveils a functional link between DNA damage-induced poly(ADP-ribosyl)ation, SMARCA5-mediated chromatin remodeling and RNF168-dependent signaling and repair of DSBs. (PMID:23264744)
• Data indicate that the heterochromatic H2A.X is preferentially phosphorylated presumably by the accumulating WSTF-ISWI chromatin remodeling (WICH) complex, and suggests that Tyr142p might have a specific role in heterochromatin. (PMID:23319141)
• Data show that CCCTC-binding factor (CTCF) together with ISWI ATPase SMARCA5 and members of the Cohesin complex associate with the SPI1 protein is disrupted in acute myeloid leukemia (AML) blasts. (PMID:24498324)
• this study finds that the H4 tail promotes ATP-binding pocket closure in SNF2h. (PMID:24607692)
• SMARCA5 targeting to UV-C damage depends on transcription and histone modifications and requires functional SWI2/SNF2-ATPase and SLIDE domains. (PMID:24990377)
• Knockdown of SMARCA5 expression in MDA-MB-231 and MDA-MB-435s cell lines. (PMID:25377162)
• CHD3.1 and ACF1-SNF2H display counteractive activities but similar histone affinities. (PMID:25533843)
• Data show the mechanism of nucleosome sliding by the chromatin remodeling motor SNF2h protein. (PMID:25684208)
• Overexpression of hSNF2H is associated with glioma. (PMID:26666816)
• The action of SNF2H at CTCF sites is functionally important as depletion of CTCF or SNF2H affects transcription of a common group of genes. (PMID:27019336)
• A model has been proposed in which a base excision repair complex containing damaged chromatin is recruited to specific locations in the nuclear matrix for repair, with this recruitment mediated by XRCC1-SNF2H interaction. (PMID:27268481)
• miR-151-5p, targeting chromatin remodeler SMARCA5, may act as a useful biomarker for BRCA-related and sporadic breast cancers. (PMID:27385001)
• BAZ1A and BAZ1B promote recovery after DNA damage in part by recruiting SMARCA5 to damaged chromatin. (PMID:29021563)
• cSMARCA5 (a circRNA derived from exons 15 and 16 of the SMARCA5 gene, hsa_circ_0001445) inhibits the growth and migration of hepatocellular carcinoma cells, making it a potential therapeutic target. (PMID:29378234)
• our data show circSMARCA5 as a promising druggable tumor suppressor in GBM and suggest that it may exert its function by tethering the RBP SRSF1. (PMID:29415469)
• propose a model in which the acidic patch, formed by histones H2A and H2B, activates SNF2h by providing a landing pad for the NegC and AutoN auto-inhibitory domains. (PMID:29664398)
• circSMARCA5/miR-620 regulatory axis is involved in the development of CC and may serve as a potential therapy target. (PMID:30575898)
• circular RNA SMARCA5 as a potential novel biomarker for hepatocellular carcinoma (PMID:30716279)
• Here, the authors show that the Chd1 remodeler from Saccharomyces cerevisiae and ISWI remodelers from human and Drosophila have distinct spatial requirements for the acidic patch. Unlike Chd1, which is equally affected by entry- and exit-side mutations, ISWI remodelers strongly depend on the entry-side acidic patch. (PMID:31094676)
• The authors propose a model for allosteric control through the nucleosome, where one SNF2h protomer promotes asymmetric octamer deformation to inhibit the second protomer, while stimulating directional DNA translocation. (PMID:31210637)
• Circ-SMARCA5 is downregulated and correlated with lower beta2-MG level and International Staging System stage as well as better prognosis in multiple myeloma patients, and it inhibits proliferation but promotes apoptosis of multiple myeloma cells via directly sponging miR-767-5p. (PMID:31601173)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Smarca5	ENSMUSG00000031715
rattus_norvegicus	Smarca5	ENSRNOG00000018149

Paralogs (30): HLTF (ENSG00000071794), SMARCA2 (ENSG00000080503), SRCAP (ENSG00000080603), ATRX (ENSG00000085224), RAD54L (ENSG00000085999), BTAF1 (ENSG00000095564), CHD8 (ENSG00000100888), SMARCA1 (ENSG00000102038), CHD4 (ENSG00000111642), CHD5 (ENSG00000116254), TTF2 (ENSG00000116830), HELLS (ENSG00000119969), ZRANB3 (ENSG00000121988), CHD6 (ENSG00000124177), SMARCA4 (ENSG00000127616), INO80 (ENSG00000128908), CHD1L (ENSG00000131778), SMARCAL1 (ENSG00000138375), SHPRH (ENSG00000146414), CHD1 (ENSG00000153922), SMARCAD1 (ENSG00000163104), RAD54L2 (ENSG00000164080), CHD3 (ENSG00000170004), CHD7 (ENSG00000171316), CHD2 (ENSG00000173575), CHD9 (ENSG00000177200), EP400 (ENSG00000183495), ERCC6L (ENSG00000186871), RAD54B (ENSG00000197275), ERCC6 (ENSG00000225830)

Protein

Protein identifiers

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5 — O60264 (reviewed: O60264)

Alternative names: Sucrose nonfermenting protein 2 homolog

All UniProt accessions (1): O60264

UniProt curated annotations — full annotation on UniProt →

Function. ATPase that possesses intrinsic ATP-dependent nucleosome-remodeling activity. Catalytic subunit of ISWI chromatin-remodeling complexes, which form ordered nucleosome arrays on chromatin and facilitate access to DNA during DNA-templated processes such as DNA replication, transcription, and repair; this may require intact histone H4 tails. Within the ISWI chromatin-remodeling complexes, slides edge- and center-positioned histone octamers away from their original location on the DNA template. Catalytic activity and histone octamer sliding propensity is regulated and determined by components of the ISWI chromatin-remodeling complexes. The BAZ1A/ACF1-, BAZ1B/WSTF-, BAZ2A/TIP5- and BAZ2B-containing ISWI chromatin-remodeling complexes regulate the spacing of nucleosomes along the chromatin and have the ability to slide mononucleosomes to the center of a DNA template in an ATP-dependent manner. The CECR2- and RSF1-containing ISWI chromatin-remodeling complexes do not have the ability to slide mononucleosomes to the center of a DNA template. Binds to core histones together with RSF1, and is required for the assembly of regular nucleosome arrays by the RSF-5 ISWI chromatin-remodeling complex. Involved in DNA replication and together with BAZ1A/ACF1 is required for replication of pericentric heterochromatin in S-phase. Probably plays a role in repression of RNA polymerase I dependent transcription of the rDNA locus, through the recruitment of the SIN3/HDAC1 corepressor complex to the rDNA promoter. Essential component of the WICH-5 ISWI chromatin-remodeling complex (also called the WICH complex), a chromatin-remodeling complex that mobilizes nucleosomes and reconfigures irregular chromatin to a regular nucleosomal array structure. The WICH-5 ISWI chromatin-remodeling complex regulates the transcription of various genes, has a role in RNA polymerase I transcription. Within the B-WICH complex has a role in RNA polymerase III transcription. Mediates the histone H2AX phosphorylation at ‘Tyr-142’, and is involved in the maintenance of chromatin structures during DNA replication processes. Essential component of NoRC-5 ISWI chromatin-remodeling complex, a complex that mediates silencing of a fraction of rDNA by recruiting histone-modifying enzymes and DNA methyltransferases, leading to heterochromatin formation and transcriptional silencing.

Subunit / interactions. Component of the ACF-5 ISWI chromatin-remodeling complex (also called the ACF/WCRF complex) at least composed of SMARCA5/SNF2H and BAZ1A/ACF1, which regulates the spacing of histone octamers on the DNA template to facilitate access to DNA. Within the complex interacts with BAZ1A/ACF1; the interaction is direct and is required to slide nucleosomes from end to center positions on a DNA template in an ATP-dependent manner. Component of the CHRAC ISWI chromatin-remodeling complex at least composed of SMARCA5/SNF2H, BAZ1A/ACF1, CHRAC1 and POLE3; the complex preferentially binds DNA through the CHRAC1-POLE3 heterodimer and possesses ATP-dependent nucleosome-remodeling activity. Within the complex interacts with BAZ1A/ACF1; the interaction is direct and promotes the interaction with the POLE3-CHRAC1 heterodimer. Within the complex interacts with the POLE3-CHRAC1 heterodimer; the interaction is direct and enhances nucleosome sliding activity by the SMARCA5/SNF2H and BAZ1A/ACF1 interaction. Neither POLE3 nor CHRAC1 enhances nucleosome sliding activity of the ACF-5 ISWI chromatin remodeling complex. Component of the WICH-5 ISWI chromatin-remodeling complex (also called the WICH complex) at least composed of SMARCA5/SNF2H and BAZ1B/WSTF, which regulates the spacing of histone octamers on the DNA template to facilitate access to DNA. Within the complex interacts with BAZ1B/WSTF. Component of the NoRC-5 ISWI chromatin-remodeling complex (also called the NoRC chromatin-remodeling complex) at least composed of SMARCA5/SNF2H and BAZ2A/TIP5; the complex suppresses rDNA transcription by a combination of nucleosome remodeling, histone deacetylation, and DNA methylation. Within the complex interacts with BAZ2A/TIP5. Within the complex interacts with HDAC1. Component of the BRF-5 ISWI chromatin-remodeling complex at least composed of SMARCA5/SNF2H and BAZ2B. Within the complex interacts with BAZ2B. Component of the NURF-5 ISWI chromatin-remodeling complex at least composed of SMARCA5/SNF2H and BPTF. Within the complex interacts with BPFT. Component of the CERF-5 ISWI chromatin-remodeling complex at least composed of SMARCA5/SNF2H and CECR2. LUZP1 is detected as part of the CERF-5 complex in embryonic stem cells where it is involved in complex stabilization but is not detected in the complex in the testis. Within the complex interacts with CECR2. Component of the RSF-5 ISWI chromatin-remodeling complex (also called the RSF complex) at least composed of SMARCA5/SNF2H and RSF1. Within the complex interacts with RSF1. Interacts with the cohesin complex component RAD21; the interaction is direct. Interacts with the NuRD complex components HDAC2, RBBP4 and CHD4; the interactions are direct. Interacts with PCNA. Component of the B-WICH complex, at least composed of SMARCA5/SNF2H, BAZ1B/WSTF, SF3B1, DEK, MYO1C, ERCC6, MYBBP1A and DDX21 which positively regulates RNA polymerase III transcription. Interacts with MYO1C. Interacts with BEND3. Interacts with SIRT6; promoting recruitment to DNA damage sites. (Microbial infection) Interacts with JC virus small t antigen. (Microbial infection) Interacts with Epstein Barr virus (EBV) lytic switch protein BZLF1; this interaction participates to the activation of early lytic viral genes by BZLF1.

Subcellular location. Nucleus. Chromosome.

Tissue specificity. Ubiquitously expressed.

Similarity. Belongs to the SNF2/RAD54 helicase family. ISWI subfamily.

RefSeq proteins (1): NP_003592* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000330	SNF2_N	Domain
IPR001005	SANT/Myb	Domain
IPR001650	Helicase_C-like	Domain
IPR009057	Homeodomain-like_sf	Homologous_superfamily
IPR014001	Helicase_ATP-bd	Domain
IPR015194	ISWI_HAND-dom	Domain
IPR015195	SLIDE	Domain
IPR017884	SANT_dom	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR036306	ISWI_HAND-dom_sf	Homologous_superfamily
IPR038718	SNF2-like_sf	Homologous_superfamily
IPR049730	SNF2/RAD54-like_C	Domain

Pfam: PF00176, PF00271, PF09110, PF09111

Catalyzed reactions (Rhea), 1 shown:

• ATP + H2O = ADP + phosphate + H(+) (RHEA:13065)

UniProt features (84 total): strand 25, helix 21, modified residue 9, cross-link 7, turn 6, compositionally biased region 5, domain 4, region of interest 2, initiator methionine 1, chain 1, binding site 1, mutagenesis site 1, short sequence motif 1

Structure

Experimental structures (PDB)

15 structures.

PDB	Method	Resolution (Å)
8V4Y	ELECTRON MICROSCOPY	2.8
8V6V	ELECTRON MICROSCOPY	2.8
8V7L	ELECTRON MICROSCOPY	2.9
9E1Q	ELECTRON MICROSCOPY	3.1
9E1R	ELECTRON MICROSCOPY	3.1
9E1U	ELECTRON MICROSCOPY	3.1
9E1V	ELECTRON MICROSCOPY	3.1
9E1L	ELECTRON MICROSCOPY	3.15
9E1W	ELECTRON MICROSCOPY	3.2
9E1M	ELECTRON MICROSCOPY	3.25
9E1P	ELECTRON MICROSCOPY	3.25
9E1O	ELECTRON MICROSCOPY	3.3
9E1N	ELECTRON MICROSCOPY	3.4
9E1X	ELECTRON MICROSCOPY	3.4
6NE3	ELECTRON MICROSCOPY	3.9

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O60264-F1	75.41	0.25

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (1): 205–212

Post-translational modifications (16): 2, 66, 113, 116, 137, 171, 440, 755, 825, 83, 644, 647, 694, 722, 735, 966

Mutagenesis-validated functional residues (1):

Position	Phenotype
211	abolishes atp hydrolysis. binds to chromatin itself, but abolishes the chromatin binding of the cohesin complex componen

Function

Pathways and Gene Ontology

Reactome pathways

14 pathways

ID	Pathway
R-HSA-427413	NoRC negatively regulates rRNA expression
R-HSA-5250924	B-WICH complex positively regulates rRNA expression
R-HSA-5693565	Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
R-HSA-606279	Deposition of new CENPA-containing nucleosomes at the centromere
R-HSA-1640170	Cell Cycle
R-HSA-212165	Epigenetic regulation of gene expression
R-HSA-5250913	Positive epigenetic regulation of rRNA expression
R-HSA-5250941	Negative epigenetic regulation of rRNA expression
R-HSA-5693532	DNA Double-Strand Break Repair
R-HSA-5693606	DNA Double Strand Break Response
R-HSA-73886	Chromosome Maintenance
R-HSA-73894	DNA Repair
R-HSA-74160	Gene expression (Transcription)
R-HSA-774815	Nucleosome assembly

MSigDB gene sets: 318 (showing top): RNGTGGGC_UNKNOWN, GOBP_CHROMOSOME_ORGANIZATION, GOBP_POSITIVE_REGULATION_OF_DNA_REPLICATION, TGCGCANK_UNKNOWN, GOBP_RESPONSE_TO_PEPTIDE, GCANCTGNY_MYOD_Q6, GOBP_TRANSCRIPTION_BY_RNA_POLYMERASE_III, TGACCTY_ERR1_Q2, GOBP_CHROMOSOME_CONDENSATION, CAGCTG_AP4_Q5, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, PUJANA_CHEK2_PCC_NETWORK, GOCC_NUCLEAR_REPLICATION_FORK, GOBP_NEGATIVE_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC, GOBP_DNA_METHYLATION_DEPENDENT_CONSTITUTIVE_HETEROCHROMATIN_FORMATION

GO Biological Process (21): rDNA heterochromatin formation (GO:0000183), regulation of DNA replication (GO:0006275), DNA repair (GO:0006281), chromatin organization (GO:0006325), nucleosome assembly (GO:0006334), chromatin remodeling (GO:0006338), DNA methylation-dependent constitutive heterochromatin formation (GO:0006346), DNA-templated transcription initiation (GO:0006352), regulation of DNA-templated transcription (GO:0006355), regulation of transcription by RNA polymerase II (GO:0006357), DNA damage response (GO:0006974), negative regulation of transcription by RNA polymerase I (GO:0016479), heterochromatin formation (GO:0031507), positive regulation of DNA replication (GO:0045740), positive regulation of transcription by RNA polymerase I (GO:0045943), positive regulation of transcription by RNA polymerase II (GO:0045944), positive regulation of transcription by RNA polymerase III (GO:0045945), antiviral innate immune response (GO:0140374), negative regulation of mitotic chromosome condensation (GO:1905213), cellular response to leukemia inhibitory factor (GO:1990830), positive regulation of DNA-templated transcription (GO:0045893)

GO Molecular Function (12): DNA binding (GO:0003677), chromatin binding (GO:0003682), helicase activity (GO:0004386), ATP binding (GO:0005524), ATP hydrolysis activity (GO:0016887), nucleosome binding (GO:0031491), ATP-dependent chromatin remodeler activity (GO:0140658), nucleosome array spacer activity (GO:0140750), histone octamer slider activity (GO:0140751), protein binding (GO:0005515), hydrolase activity (GO:0016787), histone binding (GO:0042393)

GO Cellular Component (20): chromatin (GO:0000785), condensed chromosome (GO:0000793), fibrillar center (GO:0001650), nucleus (GO:0005634), nucleoplasm (GO:0005654), chromatin silencing complex (GO:0005677), pericentric heterochromatin (GO:0005721), nucleolus (GO:0005730), CHRAC (GO:0008623), NURF complex (GO:0016589), ACF complex (GO:0016590), RSF complex (GO:0031213), site of double-strand break (GO:0035861), WICH complex (GO:0090535), NoRC complex (GO:0090536), CERF complex (GO:0090537), B-WICH complex (GO:0110016), chromosome (GO:0005694), ISWI-type complex (GO:0031010), nuclear replication fork (GO:0043596)

Reactome top-level categories

Rollup of top-10 pathways:

Category	Pathways
Epigenetic regulation of gene expression	2
Negative epigenetic regulation of rRNA expression	1
Positive epigenetic regulation of rRNA expression	1
DNA Double Strand Break Response	1
Nucleosome assembly	1
Gene expression (Transcription)	1
DNA Repair	1
DNA Double-Strand Break Repair	1
Cell Cycle	1
Chromosome Maintenance	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
ISWI-type complex	7
positive regulation of DNA-templated transcription	3
cellular anatomical structure	3
DNA replication	2
chromatin organization	2
DNA-templated transcription	2
transcription by RNA polymerase II	2
regulation of transcription by RNA polymerase I	2
transcription by RNA polymerase I	2
binding	2
ATP-dependent activity	2
chromosome	2
nucleolus	2
nuclear lumen	2
intracellular membraneless organelle	2
SWI/SNF superfamily-type complex	2
facultative heterochromatin formation	1
nucleolar chromatin organization	1
regulation of DNA metabolic process	1
DNA metabolic process	1
DNA damage response	1
cellular component organization	1
nucleosome organization	1
protein-DNA complex assembly	1
constitutive heterochromatin formation	1
RNA biosynthetic process	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
regulation of DNA-templated transcription	1
cellular response to stress	1
negative regulation of DNA-templated transcription	1
cellular component assembly	1
heterochromatin boundary formation	1
negative regulation of gene expression, epigenetic	1
heterochromatin organization	1
regulation of DNA replication	1
positive regulation of DNA metabolic process	1
regulation of transcription by RNA polymerase II	1
regulation of transcription by RNA polymerase III	1
transcription by RNA polymerase III	1

Protein interactions and networks

STRING

5380 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SMARCA5	BAZ1A	Q9NRL2	999
SMARCA5	BAZ1B	Q9UIG0	999
SMARCA5	BAZ2A	Q9UIF9	996
SMARCA5	RSF1	Q96T23	975
SMARCA5	CHRAC1	Q9NRG0	963
SMARCA5	POLE3	Q9NRF9	958
SMARCA5	BPTF	Q12830	955
SMARCA5	CECR2	Q9BXF3	850
SMARCA5	BAZ2B	Q9UIF8	844
SMARCA5	SMARCA4	P51532	842
SMARCA5	HDAC1	Q13547	836
SMARCA5	RAD21	O60216	831
SMARCA5	RBBP4	P31149	821
SMARCA5	SIRT6	Q8N6T7	809
SMARCA5	H2AC20	Q16777	775
SMARCA5	DNMT3B	Q9UBC3	775

IntAct

202 interactions, top by confidence:

A	B	Type	Score
RBBP7	CDK2AP1	psi-mi:“MI:0914”(association)	0.840
BAZ1B	SMARCA5	psi-mi:“MI:0915”(physical association)	0.810
BAZ1B	SMARCA5	psi-mi:“MI:0914”(association)	0.810
SMARCA5	BAZ1B	psi-mi:“MI:0915”(physical association)	0.810
RBBP4	CDK2AP1	psi-mi:“MI:0914”(association)	0.790
XPC	CETN3	psi-mi:“MI:0914”(association)	0.730
SMARCA5	BAZ1A	psi-mi:“MI:0915”(physical association)	0.720
SMARCA5	BAZ1A	psi-mi:“MI:0914”(association)	0.720
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
SMARCA5	RSF1	psi-mi:“MI:0915”(physical association)	0.670
SMARCA5	RSF1	psi-mi:“MI:0403”(colocalization)	0.670
RSF1	SMARCA5	psi-mi:“MI:0407”(direct interaction)	0.670
RSF1	SMARCA5	psi-mi:“MI:0915”(physical association)	0.670
KPNA1	TCERG1	psi-mi:“MI:0914”(association)	0.640
ASF1B	HAT1	psi-mi:“MI:0914”(association)	0.640
DPY30	AKAP8	psi-mi:“MI:0914”(association)	0.610
BAZ2B		psi-mi:“MI:0914”(association)	0.610
NPM1	MPHOSPH10	psi-mi:“MI:0914”(association)	0.610
BPTF	SMARCA5	psi-mi:“MI:0915”(physical association)	0.560
SMARCA5		psi-mi:“MI:0915”(physical association)	0.560
	SMARCA5	psi-mi:“MI:0914”(association)	0.560

BioGRID (632): SMARCA5 (Affinity Capture-MS), SMARCA5 (Affinity Capture-MS), SMARCA5 (Affinity Capture-MS), SMARCA5 (Affinity Capture-MS), SMARCA5 (Affinity Capture-MS), SMARCA5 (Affinity Capture-MS), SMARCA5 (Affinity Capture-MS), SMARCA5 (Affinity Capture-MS), SMARCA5 (Affinity Capture-MS), SMARCA5 (Affinity Capture-MS), SMARCA5 (Affinity Capture-MS), SMARCA5 (Affinity Capture-MS), CHRAC1 (Co-fractionation), COPS3 (Co-fractionation), HDAC2 (Co-fractionation)

ESM2 similar proteins: A1Z9L3, A2A4P0, A3KFM7, A3KMI0, B2RR83, D3ZA12, D4A2Z8, E9PZM4, F4IJV4, F4JY24, O14647, O42643, O45244, O60231, O60264, P28370, P34498, P40201, P41877, P93008, Q05B79, Q09530, Q10752, Q14562, Q17R09, Q24368, Q38953, Q4TVV3, Q53RK8, Q54F05, Q569Z5, Q5R6D8, Q5R746, Q62780, Q6PGB8, Q767K6, Q7G8Y3, Q7L014, Q7YR39, Q7ZU90

Diamond homologs: A2A8L1, A2AJK6, A3KFM7, A7Z019, A9X4T1, B0R061, B0R0I6, B4KHL5, B5DE69, B6ZLK2, D3Z9Z9, D3ZA12, D3ZD32, E1B7X9, E7F1C4, E9PZM4, F4IHS2, F4IV45, F4IV99, F4J9M5, F4JTF6, F4JY24, F4K128, F4KBP5, F8VPZ5, G5EBZ4, G5EDG2, G5EF53, O14139, O14646, O14647, O16102, O42861, O60264, O74842, O94421, O97159, P22082, P25439, P28370

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
SMARCA5	“form complex”	“B-WICH complex”	binding
SMARCA5	“form complex”	WICH	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 207 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
NOTCH4 Intracellular Domain Regulates Transcription	5	20.5×	9e-04
Regulation of TP53 Activity through Acetylation	5	16.4×	1e-03
Transcriptional regulation of brown and beige adipocyte differentiation by EBF2	5	13.7×	1e-03
Transcriptional regulation by RUNX3	6	11.7×	1e-03
Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells)	11	11.6×	2e-06
RNA Polymerase I Transcription Initiation	6	9.7×	1e-03
NOTCH1 Intracellular Domain Regulates Transcription	5	8.6×	5e-03
NuRD complex assembly	8	8.1×	1e-03

GO biological processes:

GO term	Partners	Fold	FDR
regulation of stem cell differentiation	6	25.2×	2e-05
vascular endothelial growth factor receptor signaling pathway	7	18.5×	2e-05
cellular response to vascular endothelial growth factor stimulus	5	15.4×	1e-03
somitogenesis	6	12.3×	9e-04
peptidyl-tyrosine phosphorylation	5	11.6×	5e-03
nucleosome assembly	14	10.8×	2e-08
regulation of DNA replication	5	10.1×	7e-03
ribosomal small subunit biogenesis	8	10.0×	2e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	6
Uncertain significance	104
Likely benign	5
Benign	1

Top pathogenic / likely-pathogenic (9)

Variant ID	HGVS	Classification
1804056	NM_003601.4(SMARCA5):c.1301_1306del (p.Ile434_Leu435del)	Pathogenic
1804057	NM_003601.4(SMARCA5):c.2677G>A (p.Glu893Lys)	Pathogenic
3338969	NM_003601.4(SMARCA5):c.855del (p.Ser286fs)	Pathogenic
1708263	NM_003601.4(SMARCA5):c.934A>G (p.Arg312Gly)	Likely pathogenic
3376794	NM_003601.4(SMARCA5):c.2283+1G>A	Likely pathogenic
3773710	NM_003601.4(SMARCA5):c.1015C>T (p.Pro339Ser)	Likely pathogenic
4072338	NM_003601.4(SMARCA5):c.1015C>G (p.Pro339Ala)	Likely pathogenic
4531930	NM_003601.4(SMARCA5):c.623G>A (p.Gly208Asp)	Likely pathogenic
599594	NM_003601.4(SMARCA5):c.940A>C (p.Lys314Gln)	Likely pathogenic

SpliceAI

2429 predictions. Top by Δscore:

Variant	Effect	Δscore
4:143517350:A:AG	acceptor_gain	1.0000
4:143517350:ACCAG:A	acceptor_gain	1.0000
4:143517351:C:G	acceptor_gain	1.0000
4:143517352:CAGG:C	acceptor_loss	1.0000
4:143517353:A:AG	acceptor_gain	1.0000
4:143517353:A:AT	acceptor_loss	1.0000
4:143517353:AG:A	acceptor_gain	1.0000
4:143517354:G:GG	acceptor_gain	1.0000
4:143517354:GG:G	acceptor_gain	1.0000
4:143517354:GGA:G	acceptor_gain	1.0000
4:143517354:GGAA:G	acceptor_gain	1.0000
4:143517354:GGAAA:G	acceptor_gain	1.0000
4:143517430:G:GG	donor_gain	1.0000
4:143517431:TAT:T	donor_loss	1.0000
4:143519677:A:G	donor_gain	1.0000
4:143521424:TTCA:T	acceptor_loss	1.0000
4:143521427:A:AG	acceptor_gain	1.0000
4:143521427:A:G	acceptor_loss	1.0000
4:143521428:G:GA	acceptor_gain	1.0000
4:143521428:GC:G	acceptor_gain	1.0000
4:143521428:GCA:G	acceptor_gain	1.0000
4:143521428:GCAA:G	acceptor_gain	1.0000
4:143521428:GCAAA:G	acceptor_gain	1.0000
4:143521565:A:G	donor_gain	1.0000
4:143521592:GCGA:G	donor_gain	1.0000
4:143521593:CGA:C	donor_gain	1.0000
4:143521594:GA:G	donor_gain	1.0000
4:143521594:GAG:G	donor_gain	1.0000
4:143521594:GAGT:G	donor_loss	1.0000
4:143521596:G:A	donor_loss	1.0000

AlphaMissense

6995 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:143524398:G:C	D151H	1.000
4:143525482:G:C	Q184H	1.000
4:143525482:G:T	Q184H	1.000
4:143525498:T:A	W190R	1.000
4:143525498:T:C	W190R	1.000
4:143525531:G:C	G201R	1.000
4:143525532:G:A	G201D	1.000
4:143525535:T:A	I202N	1.000
4:143525535:T:C	I202T	1.000
4:143525535:T:G	I202S	1.000
4:143525538:T:A	L203H	1.000
4:143525538:T:C	L203P	1.000
4:143525540:G:C	A204P	1.000
4:143525541:C:A	A204E	1.000
4:143525543:G:C	D205H	1.000
4:143525543:G:T	D205Y	1.000
4:143525544:A:C	D205A	1.000
4:143525544:A:G	D205G	1.000
4:143525544:A:T	D205V	1.000
4:143525545:T:A	D205E	1.000
4:143525545:T:G	D205E	1.000
4:143525547:A:T	E206V	1.000
4:143525550:T:C	M207T	1.000
4:143525550:T:G	M207R	1.000
4:143525551:G:A	M207I	1.000
4:143525551:G:C	M207I	1.000
4:143525551:G:T	M207I	1.000
4:143526281:G:C	G208R	1.000
4:143526281:G:T	G208C	1.000
4:143526282:G:A	G208D	1.000

dbSNP variants (sampled 300 via entrez): RS1000003044 (4:143520792 T>A,C), RS1000015688 (4:143519214 A>G), RS1000094611 (4:143533538 A>C,G,T), RS1000131652 (4:143551103 T>C), RS1000163694 (4:143529697 G>A), RS1000227481 (4:143544910 ATTC>A), RS1000466912 (4:143544341 T>C), RS1000481996 (4:143537081 T>C,G), RS1000484381 (4:143551492 G>A,C), RS1000558764 (4:143556790 G>A), RS1000565002 (4:143546551 C>T), RS1000674024 (4:143523858 A>C,G), RS1000698424 (4:143536968 G>A), RS1000762918 (4:143536727 G>A,T), RS1000775603 (4:143517579 C>G)

Disease associations

OMIM: gene MIM:603375 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
complex neurodevelopmental disorder	Strong	Autosomal dominant
neurodevelopmental disorder	Strong	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
complex neurodevelopmental disorder	Moderate	AD

Mondo (5): intellectual disability (MONDO:0001071), microcephaly (MONDO:0001149), flatfoot (MONDO:0005293), neurodevelopmental disorder (MONDO:0700092), complex neurodevelopmental disorder (MONDO:0100038)

Orphanet (1): NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPO	Term
HP:0000252	Microcephaly

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST008839_139	Height	5.000000e-10
GCST010725_4	Malaria	4.000000e-10
GCST010725_84	Malaria	7.000000e-11
GCST010725_89	Malaria	7.000000e-11
GCST90000025_286	Appendicular lean mass	4.000000e-14

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004980	appendicular lean mass

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D005413	Flatfoot	C05.330.488.655.250; C05.330.495.681.250; C05.660.585.512.380.813.250; C16.131.621.585.512.500.681.250
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D008831	Microcephaly	C05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500
D065886	Neurodevelopmental Disorders	F03.625

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6066387 (SINGLE PROTEIN)

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

ChEMBL bioactivities

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

pChembl	Type	Value	Unit	Molecule
6.84	Kd	145.3	nM	CHEMBL5653589
6.84	ED50	145.3	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 2 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	2149439: Binding affinity to human SMARCA5 incubated for 45 mins by Kinobead based pull down assay	kd	0.1453	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Hydrogen Peroxide	affects expression, decreases expression	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
TAK-243	decreases sumoylation	1
2,4,6-tribromophenol	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression	1
decabromobiphenyl ether	increases expression	1
tetrahydropalmatine	decreases expression	1
arsenite	affects binding, decreases reaction	1
sodium arsenite	affects methylation	1
tetrabromobisphenol A	increases expression	1
beta-methylcholine	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
motexafin gadolinium	decreases expression, affects cotreatment	1
ICG 001	increases expression	1
hexabrominated diphenyl ether 153	increases expression	1
bisphenol S	affects cotreatment, increases methylation	1
jinfukang	affects cotreatment, decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Acetaminophen	decreases expression	1
Caffeine	decreases phosphorylation	1
Cisplatin	affects cotreatment, decreases expression	1
Doxorubicin	decreases expression	1
Formaldehyde	decreases expression	1
Ivermectin	decreases expression	1
Lead	affects expression	1
Phthalic Acids	increases methylation	1
Piroxicam	decreases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5652481	Binding	Binding affinity to human SMARCA5 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

Clinical trials (associated diseases)

445 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
NCT02414087	PHASE4	UNKNOWN	Therapeutic Effects of Customized Insoles on Children With Flat Foot
NCT04564430	PHASE4	UNKNOWN	Clonidine for Tourniquet-related Pain in Children
NCT06211504	PHASE4	RECRUITING	Sinus Tarsi Implant as an Adjuvant Procedure to Medial Displacement Calcaneal Osteotomy in the Treatment of Mobile Adult Acquired Flatfoot Deformity
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
NCT03918798	PHASE2	COMPLETED	The Efficacy and Safety of Chloroprocaine 1% and 2% in Pediatric Population
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)
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