BRSK2

Summary

BRSK2 (BR serine/threonine kinase 2, HGNC:11405) is a protein-coding gene on chromosome 11p15.5, encoding Serine/threonine-protein kinase BRSK2 (Q8IWQ3). Serine/threonine-protein kinase that plays a key role in polarization of neurons and axonogenesis, cell cycle progress and insulin secretion. It is haploinsufficient (ClinGen: sufficient evidence).

Enables several functions, including ATP binding activity; ATPase binding activity; and magnesium ion binding activity. Involved in several processes, including G2/M transition of mitotic cell cycle; intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress; and regulation of insulin secretion involved in cellular response to glucose stimulus. Located in centrosome and endoplasmic reticulum.

Source: NCBI Gene 9024 — RefSeq curated summary.

At a glance

• Gene–disease (curated): complex neurodevelopmental disorder (Definitive, ClinGen) — +2 more curated relationships
• GWAS associations: 5
• Clinical variants (ClinVar): 311 total — 8 pathogenic, 16 likely-pathogenic
• Druggable target: yes — 10 molecules with ChEMBL bioactivity
• Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
• MANE Select transcript: NM_001256627

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11405
Approved symbol	BRSK2
Name	BR serine/threonine kinase 2
Location	11p15.5
Locus type	gene with protein product
Status	Approved
Aliases	PEN11B, SAD-A
Ensembl gene	ENSG00000174672
Ensembl biotype	protein_coding
OMIM	609236
Entrez	9024

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 15 protein_coding, 3 retained_intron, 2 nonsense_mediated_decay

ENST00000308219, ENST00000382179, ENST00000524702, ENST00000526678, ENST00000526768, ENST00000528596, ENST00000528710, ENST00000528841, ENST00000529433, ENST00000529951, ENST00000531078, ENST00000531197, ENST00000531932, ENST00000533606, ENST00000544817, ENST00000938455, ENST00000938456, ENST00000938457, ENST00000949451, ENST00000949452

RefSeq mRNA: 5 — MANE Select: NM_001256627 NM_001256627, NM_001256629, NM_001256630, NM_001282218, NM_003957

CCDS: CCDS41590, CCDS58106, CCDS58107, CCDS58108, CCDS60696

Canonical transcript exons

ENST00000528841 — 20 exons

Exon	Start	End
ENSE00001203908	1444971	1445002
ENSE00001592587	1442490	1442606
ENSE00001622778	1438306	1438391
ENSE00001763723	1440788	1440928
ENSE00002142660	1460500	1462689
ENSE00003471042	1445571	1445668
ENSE00003542341	1443335	1443403
ENSE00003548562	1445757	1445907
ENSE00003556788	1445294	1445458
ENSE00003561621	1459192	1459239
ENSE00003568018	1456348	1456528
ENSE00003591053	1436040	1436134
ENSE00003611850	1456598	1456687
ENSE00003622645	1454485	1454608
ENSE00003623051	1443489	1443635
ENSE00003645716	1449776	1449836
ENSE00003652755	1450587	1450794
ENSE00003675061	1443106	1443139
ENSE00003719762	1451371	1451419
ENSE00003845628	1389934	1390375

Expression profiles

Bgee: expression breadth ubiquitous, 176 present calls, max score 98.74.

FANTOM5 (CAGE): breadth broad, TPM avg 4.6349 / max 250.0209, expressed in 618 samples.

FANTOM5 promoters (16 alternative TSS)

Promoter ID	TPM avg	Samples expressed
112444	2.1939	528
112446	1.1417	324
112445	0.3778	148
112457	0.2001	64
112458	0.1250	34
112447	0.1150	72
112448	0.1149	63
112453	0.0901	49
112449	0.0739	48
112451	0.0696	7

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right hemisphere of cerebellum	UBERON:0014890	98.74	gold quality
cerebellar hemisphere	UBERON:0002245	98.34	gold quality
cerebellar cortex	UBERON:0002129	98.15	gold quality
body of pancreas	UBERON:0001150	97.61	gold quality
right frontal lobe	UBERON:0002810	97.28	gold quality
ganglionic eminence	UBERON:0004023	96.56	gold quality
cortical plate	UBERON:0005343	96.45	gold quality
cerebellum	UBERON:0002037	95.47	gold quality
anterior cingulate cortex	UBERON:0009835	94.52	gold quality
cingulate cortex	UBERON:0003027	94.51	gold quality
Brodmann (1909) area 9	UBERON:0013540	92.97	gold quality
prefrontal cortex	UBERON:0000451	92.88	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	92.62	gold quality
nucleus accumbens	UBERON:0001882	92.17	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	92.17	gold quality
amygdala	UBERON:0001876	91.95	gold quality
caudate nucleus	UBERON:0001873	91.67	gold quality
neocortex	UBERON:0001950	90.55	gold quality
putamen	UBERON:0001874	89.70	gold quality
frontal cortex	UBERON:0001870	89.63	gold quality
frontal lobe	UBERON:0016525	89.60	gold quality
adenohypophysis	UBERON:0002196	89.40	gold quality
sural nerve	UBERON:0015488	89.18	gold quality
cerebral cortex	UBERON:0000956	89.09	gold quality
telencephalon	UBERON:0001893	88.81	gold quality
primary visual cortex	UBERON:0002436	88.47	gold quality
forebrain	UBERON:0001890	88.28	gold quality
brain	UBERON:0000955	88.22	gold quality
central nervous system	UBERON:0001017	88.20	gold quality
spinal cord	UBERON:0002240	87.95	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	11.51

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ESR1

miRNA regulators (miRDB)

28 targeting BRSK2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-3140-3P	99.88	68.47	2069
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-4677-5P	99.70	70.09	1940
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-1284	99.67	73.56	1353
HSA-MIR-670-5P	99.67	69.94	1565
HSA-MIR-561-3P	99.64	70.90	3647
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-6722-3P	99.45	67.62	1919
HSA-MIR-6739-3P	99.22	68.84	1843
HSA-MIR-4293	99.22	65.46	1263
HSA-MIR-1909-3P	99.03	66.56	1662
HSA-MIR-3135B	98.61	65.33	1470
HSA-MIR-6776-3P	98.38	66.34	655
HSA-MIR-4669	97.94	62.71	224
HSA-MIR-4632-3P	96.26	58.52	123
HSA-MIR-4485-5P	95.91	59.69	198
HSA-MIR-2861	95.24	65.47	1056
HSA-MIR-4445-3P	93.28	66.18	106
HSA-MIR-548AL	93.28	65.60	109

Functional genomics

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

Literature-anchored findings (GeneRIF, showing 16)

• BRSK2 may be an autoantigen involved in the pathogenesis of small-cell lung cancer-associated limbic encephalitis. (PMID:16165222)
• we identified cAMP-dependent protein kinase A (PKA) as another upstream kinase of BRSK2, which can phosphorylate BRSK2 at Thr260. Kinase activity of BRSK2 can be increased through phosphorylation by PKA. (PMID:16870137)
• protein phosphatase 2C is a likely candidate for catalyzing the dephosphorylation and inactivation of BRSK1/2. (PMID:18339622)
• level of SAD within neurons is modulated by TORC1 (PMID:18794342)
• STRADalpha.MO25alpha complexes containing LKB1 variants were equally effective at phosphorylating and activating AMPK, BRSK1, and BRSK2 (PMID:18854318)
• BRSK2 is up-regulated in pancreatic ductal adenocarcinoma. (PMID:20646422)
• these findings provide a novel regulatory mechanism of BRSK2 through direct interaction with Jab1. (PMID:22609399)
• these findings demonstrate ER stress may reduce BRSK2 protein and change BRSK2 subcellular localization, which in turn alleviate ER stress-induced apoptosis. (PMID:22713462)
• a novel function of BRSK2 in the regulation of GSIS in beta-cells via a PCTAIRE1-dependent mechanism and suggest that BRSK2 is an attractive target for developing novel diabetic drugs. (PMID:22798068)
• Anaphase-promoting complex/cyclosome-Cdh1, rather than Cdc20, promotes the degradation of BRSK2 in vivo. (PMID:23029325)
• BRSK2 interacted with VCP/p97 via three of the four functional domains of VCP/p97. Immunofluorescence demonstrated that BRSK2 and VCP/p97 were co-localized and also that knockdown of endogenous BRSK2 induced increased levels of CD3delta. (PMID:23907667)
• SAD-A and AMPK kinases are regulators of mTORC1 signaling in the pancreatic beta-cells. (PMID:24047693)
• the intrinsic molecular merit that BRSK2 provides is a survival advantage to PDAC cells and strengthens the invasiveness of these neoplastic cells in energy-deprived environments. (PMID:28591720)
• damaging variation in BRSK2 is a source of neurodevelopmental disease (PMID:30879638)
• STK39 is a novel kinase contributing to the progression of hepatocellular carcinoma by the PLK1/ERK signaling pathway. (PMID:33500714)
• BRSK2 in pancreatic beta cells promotes hyperinsulinemia-coupled insulin resistance and its genetic variants are associated with human type 2 diabetes. (PMID:37188647)

Cross-species orthologs

12 orthologs

Organism	Symbol	Gene ID
danio_rerio	BRSK2	ENSDARG00000061421
danio_rerio	brsk2b	ENSDARG00000077791
mus_musculus	Brsk2	ENSMUSG00000053046
rattus_norvegicus	Brsk2	ENSRNOG00000020021
drosophila_melanogaster	Snrk	FBGN0033915
drosophila_melanogaster	sff	FBGN0036544
drosophila_melanogaster	Nuak	FBGN0262617
caenorhabditis_elegans		WBGENE00004719
caenorhabditis_elegans		WBGENE00012638
caenorhabditis_elegans	ZK524.4	WBGENE00013994
caenorhabditis_elegans	tag-344	WBGENE00015230
caenorhabditis_elegans		WBGENE00044388

Paralogs (17): NUAK1 (ENSG00000074590), PRKAA1 (ENSG00000132356), TSSK4 (ENSG00000139908), HUNK (ENSG00000142149), SIK1 (ENSG00000142178), BRSK1 (ENSG00000160469), SIK3 (ENSG00000160584), PRKAA2 (ENSG00000162409), TSSK3 (ENSG00000162526), NUAK2 (ENSG00000163545), SNRK (ENSG00000163788), MELK (ENSG00000165304), SIK2 (ENSG00000170145), NIM1K (ENSG00000177453), TSSK6 (ENSG00000178093), TSSK2 (ENSG00000206203), TSSK1B (ENSG00000212122)

Protein

Protein identifiers

Serine/threonine-protein kinase BRSK2 — Q8IWQ3 (reviewed: Q8IWQ3)

Alternative names: Brain-selective kinase 2, Brain-specific serine/threonine-protein kinase 2, Serine/threonine-protein kinase 29, Serine/threonine-protein kinase SAD-A

All UniProt accessions (7): A0A0C4DGH9, A0A140VJF6, E9PPI2, E9PRY3, Q8IWQ3, H0YCS6, H0YES6

UniProt curated annotations — full annotation on UniProt →

Function. Serine/threonine-protein kinase that plays a key role in polarization of neurons and axonogenesis, cell cycle progress and insulin secretion. Phosphorylates CDK16, CDC25C, MAPT/TAU, PAK1 and WEE1. Following phosphorylation and activation by STK11/LKB1, acts as a key regulator of polarization of cortical neurons, probably by mediating phosphorylation of microtubule-associated proteins such as MAPT/TAU at ‘Thr-529’ and ‘Ser-579’. Also regulates neuron polarization by mediating phosphorylation of WEE1 at ‘Ser-642’ in postmitotic neurons, leading to down-regulate WEE1 activity in polarized neurons. Plays a role in the regulation of the mitotic cell cycle progress and the onset of mitosis. Plays a role in the regulation of insulin secretion in response to elevated glucose levels, probably via phosphorylation of CDK16 and PAK1. While BRSK2 phosphorylated at Thr-174 can inhibit insulin secretion, BRSK2 phosphorylated at Thr-260 can promote insulin secretion. Regulates reorganization of the actin cytoskeleton. May play a role in the apoptotic response triggered by endoplasmic reticulum (ER) stress.

Subunit / interactions. Interacts with FZR1, a regulatory subunit of the APC ubiquitin ligase complex. Interacts with COPS5. Interacts with PAK1.

Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Perinuclear region. Endoplasmic reticulum.

Tissue specificity. Detected in pancreas islets (at protein level).

Post-translational modifications. Phosphorylated at Thr-174 by STK11/LKB1 in complex with STE20-related adapter-alpha (STRADA) pseudo kinase and CAB39. Not phosphorylated at Thr-174 by CaMKK2. In contrast, it is phosphorylated and activated by CaMKK1. May be inactivated via dephosphorylation of Thr-174 by PP2C. Phosphorylated at Thr-260 by PKA. Phosphorylation at Thr-260 by PKA was not observed in another study, but this may reflect differences in the experimental approach. Phosphorylation at Thr-260 seems to play a role in the regulation of insulin secretion. Polyubiquitinated by the APC complex in conjunction with FZR1, leading to its proteasomal degradation. Targeted for proteasomal degradation by interaction with COPS5. BRSK2 levels change during the cell cycle. BRSK2 levels are low at the G1/S boundary and gradually increase as cells progress into G2 phase. BRSK2 levels decrease rapidly at the end of mitosis.

Activity regulation. Activated by phosphorylation on Thr-174 by STK11/LKB1.

Domain organisation. The KEN box motif is required for interaction with FZR1/CDH1 and essential for APC(CDH1)-mediated ubiquitination.

Similarity. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. SNF1 subfamily.

Isoforms (6)

UniProt ID	Names	Canonical?
Q8IWQ3-1	1	yes
Q8IWQ3-2	2
Q8IWQ3-3	3
Q8IWQ3-4	4
Q8IWQ3-5	5
Q8IWQ3-6	6

RefSeq proteins (5): NP_001243556, NP_001243558, NP_001243559, NP_001269147, NP_003948 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000719	Prot_kinase_dom	Domain
IPR008271	Ser/Thr_kinase_AS	Active_site
IPR011009	Kinase-like_dom_sf	Homologous_superfamily
IPR017441	Protein_kinase_ATP_BS	Binding_site
IPR048622	BRSK1_2-like_UBA	Domain

Pfam: PF00069, PF21115, PF21122

Catalyzed reactions (Rhea), 4 shown:

• L-seryl-[tau protein] + ATP = O-phospho-L-seryl-[tau protein] + ADP + H(+) (RHEA:12801)
• L-seryl-[protein] + ATP = O-phospho-L-seryl-[protein] + ADP + H(+) (RHEA:17989)
• L-threonyl-[protein] + ATP = O-phospho-L-threonyl-[protein] + ADP + H(+) (RHEA:46608)
• L-threonyl-[tau protein] + ATP = O-phospho-L-threonyl-[tau protein] + ADP + H(+) (RHEA:53904)

UniProt features (47 total): modified residue 17, splice variant 8, mutagenesis site 6, compositionally biased region 4, region of interest 3, domain 2, binding site 2, sequence conflict 2, chain 1, active site 1, short sequence motif 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IWQ3-F1	68.46	0.31

Functional residue map

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

Catalytic / active sites (1): 141 (proton acceptor)

Ligand- & substrate-binding residues (2): 25–33; 48

Post-translational modifications (17): 174, 260, 294, 367, 382, 393, 412, 423, 427, 455, 459, 463, 509, 512, 513, 520, 416

Mutagenesis-validated functional residues (6):

Position	Phenotype
48	loss of catalytic activity. causes disintegration of actin stress fibers.
174	prevents phosphorylation and activation by stk11/lkb1 complex.
174	constitutively activated.
260	decreased phosphorylation. nearly abolishes stimulation of insulin secretion.
310	decreased activation of kinase activity.
443	constitutively activated. promotes formation of actin stress fibers.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 0 (showing top):

GO Biological Process (20): G2/M transition of mitotic cell cycle (GO:0000086), protein phosphorylation (GO:0006468), exocytosis (GO:0006887), axonogenesis (GO:0007409), regulation of neuron projection development (GO:0010975), central nervous system neuron differentiation (GO:0021953), establishment of cell polarity (GO:0030010), actin cytoskeleton organization (GO:0030036), neuron differentiation (GO:0030182), ERAD pathway (GO:0036503), regulation of axonogenesis (GO:0050770), cell division (GO:0051301), regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178), intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059), microtubule cytoskeleton organization involved in establishment of planar polarity (GO:0090176), regulation of retrograde protein transport, ER to cytosol (GO:1904152), regulation of synaptic vesicle clustering (GO:2000807), apoptotic process (GO:0006915), nervous system development (GO:0007399), neuron projection morphogenesis (GO:0048812)

GO Molecular Function (15): magnesium ion binding (GO:0000287), protein serine/threonine kinase activity (GO:0004674), ATP binding (GO:0005524), protein kinase binding (GO:0019901), tau protein binding (GO:0048156), tau-protein kinase activity (GO:0050321), ATPase binding (GO:0051117), ATPase regulator activity (GO:0060590), protein serine kinase activity (GO:0106310), nucleotide binding (GO:0000166), protein kinase activity (GO:0004672), protein binding (GO:0005515), kinase activity (GO:0016301), transferase activity (GO:0016740), metal ion binding (GO:0046872)

GO Cellular Component (6): cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783), centrosome (GO:0005813), perinuclear region of cytoplasm (GO:0048471), distal axon (GO:0150034), cytoskeleton (GO:0005856)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
neuron projection development	2
response to endoplasmic reticulum stress	2
protein kinase activity	2
cytoplasm	2
mitotic cell cycle	1
mitotic cell cycle phase transition	1
cell cycle G2/M phase transition	1
phosphorylation	1
protein modification process	1
vesicle-mediated transport	1
secretion by cell	1
vesicle fusion to plasma membrane	1
cell morphogenesis involved in neuron differentiation	1
neuron projection morphogenesis	1
axon development	1
regulation of plasma membrane bounded cell projection organization	1
central nervous system development	1
neuron differentiation	1
establishment or maintenance of cell polarity	1
cytoskeleton organization	1
actin filament-based process	1
cell differentiation	1
generation of neurons	1
proteasomal protein catabolic process	1
response to chemical	1
axonogenesis	1
regulation of neuron projection development	1
regulation of anatomical structure morphogenesis	1
cellular process	1
insulin secretion involved in cellular response to glucose stimulus	1
regulation of insulin secretion	1
regulation of cellular localization	1
intrinsic apoptotic signaling pathway	1
microtubule cytoskeleton organization	1
establishment of planar polarity	1
retrograde protein transport, ER to cytosol	1
regulation of protein exit from endoplasmic reticulum	1
regulation of localization	1
synaptic vesicle clustering	1

Protein interactions and networks

STRING

1840 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BRSK2	CDR2	Q01850	571
BRSK2	TSC2	P49815	563
BRSK2	TSC1	Q92574	552
BRSK2	CDC25B	P30305	534
BRSK2	MTOR	P42345	505
BRSK2	PKD1	P98161	497
BRSK2	FBXW5	Q969U6	497
BRSK2	GOLGB1	Q14789	496
BRSK2	CAB39	Q9Y376	480
BRSK2	AK5	Q9Y6K8	465
BRSK2	RAB5A	P20339	450
BRSK2	EIF4EBP1	Q13541	450
BRSK2	CDC25C	P30307	440
BRSK2	RHEB	Q15382	438
BRSK2	YWHAB	P31946	423

IntAct

15 interactions, top by confidence:

A	B	Type	Score
COPS5	BRSK2	psi-mi:“MI:0915”(physical association)	0.640
COPS5	BRSK2	psi-mi:“MI:0403”(colocalization)	0.640
BRSK2	YWHAE	psi-mi:“MI:0915”(physical association)	0.400
SFN	BRSK2	psi-mi:“MI:0915”(physical association)	0.400
Rrbp1	PIPSL	psi-mi:“MI:0914”(association)	0.350
BRSK2	COL1A1	psi-mi:“MI:0914”(association)	0.350
BRSK1	ANKRD28	psi-mi:“MI:0914”(association)	0.350
KBTBD7	POLRMT	psi-mi:“MI:0914”(association)	0.350
S100A2	PLEKHG3	psi-mi:“MI:0914”(association)	0.350

BioGRID (63): COPS5 (Reconstituted Complex), BRSK2 (Affinity Capture-MS), BRSK2 (Affinity Capture-RNA), MAPT (Biochemical Activity), TRAF6 (Two-hybrid), BRSK2 (Affinity Capture-MS), BRSK2 (Affinity Capture-RNA), BRSK2 (Affinity Capture-MS), BRSK2 (Proximity Label-MS), BRSK2 (Affinity Capture-MS), BRSK2 (Affinity Capture-MS), BRSK2 (Affinity Capture-MS), COL1A1 (Affinity Capture-MS), B2M (Affinity Capture-MS), CRAMP1L (Affinity Capture-MS)

ESM2 similar proteins: A0A8I3NFE2, A0FI79, B1AVH7, B5DFA1, D2H0G5, D7PF45, O00750, O15357, O70143, P29353, P97573, P98083, Q00IB7, Q0IIE2, Q15678, Q16825, Q17R13, Q2I6J0, Q2I6J1, Q2V2M9, Q5JV73, Q5M824, Q5R7W7, Q5U2X5, Q61120, Q62130, Q62136, Q62728, Q62925, Q69Z98, Q6P4S2, Q6P549, Q80TI1, Q8AY68, Q8BMC3, Q8BYW1, Q8IWQ3, Q8K245, Q92529, Q92835

Diamond homologs: A0AUV4, A1A5Q6, A2KF29, A2XFF4, A8WYE4, B2DD29, B8BBT7, C0HKC8, C0HKC9, F1QGZ6, O08678, O08679, O22932, O74536, O94168, P06782, P0DP15, P25389, P27448, P45894, P52497, P54645, P54646, P57059, P92958, Q00372, Q02723, Q03141, Q05512, Q09137, Q0D4B2, Q12152, Q12263, Q13131, Q14680, Q19469, Q21017, Q28948, Q28GW8, Q2RAX3

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
STK11	up-regulates	BRSK2	phosphorylation
BRSK2	up-regulates	PRKAA1	phosphorylation
BRSK2	“up-regulates activity”	WDR45	phosphorylation
PKA	“up-regulates activity”	BRSK2	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	8
Likely pathogenic	16
Uncertain significance	157
Likely benign	96
Benign	13

Top pathogenic / likely-pathogenic (24)

Variant ID	HGVS	Classification
2285811	NM_001256627.2(BRSK2):c.978-1G>C	Pathogenic
2299730	NM_001256627.2(BRSK2):c.1301_1307dup (p.Arg437fs)	Pathogenic
3135160	NM_001256627.2(BRSK2):c.1535C>A (p.Ser512Ter)	Pathogenic
3135165	NM_001256627.2(BRSK2):c.696_697del (p.Phe233fs)	Pathogenic
3359012	NM_001256627.2(BRSK2):c.117C>A (p.Cys39Ter)	Pathogenic
4077190	NM_001256627.2(BRSK2):c.664C>T (p.Arg222Ter)	Pathogenic
487356	NM_001256627.2(BRSK2):c.530+1G>A	Pathogenic
503810	NM_001256627.2(BRSK2):c.902_906dup (p.Leu303fs)	Pathogenic
1184934	NM_001256627.2(BRSK2):c.733_734del (p.Leu246fs)	Likely pathogenic
1201733	NM_001256627.2(BRSK2):c.1987+2del	Likely pathogenic
1473680	NM_001256627.2(BRSK2):c.1940-3_1940-2del	Likely pathogenic
2497685	NM_001256627.2(BRSK2):c.1617A>C (p.Lys539Asn)	Likely pathogenic
2505705	NM_001256627.2(BRSK2):c.82G>C (p.Gly28Arg)	Likely pathogenic
2577996	NM_001256627.2(BRSK2):c.818dup (p.Lys274fs)	Likely pathogenic
2626896	NM_001256627.2(BRSK2):c.1668G>A (p.Ser556=)	Likely pathogenic
2633427	NM_001256627.2(BRSK2):c.472G>A (p.Ala158Thr)	Likely pathogenic
2691499	NC_000011.9:g.(1467138_1471005)_(1477918_1480421)del	Likely pathogenic
4077193	NM_001256627.2(BRSK2):c.186+5_186+50del	Likely pathogenic
4216379	NM_001256627.2(BRSK2):c.551C>A (p.Pro184His)	Likely pathogenic
4293685	NM_001256627.2(BRSK2):c.1959_1966dup (p.Thr656delinsLysTer)	Likely pathogenic
431482	NM_001256627.2(BRSK2):c.1532_1533del (p.Glu511fs)	Likely pathogenic
4536112	NC_000011.9:g.(1462159_1463719)_(1464370_1464564)del	Likely pathogenic
4813882	NM_001256627.2(BRSK2):c.1940-2A>C	Likely pathogenic
517145	NM_001256627.2(BRSK2):c.635G>A (p.Gly212Glu)	Likely pathogenic

SpliceAI

5106 predictions. Top by Δscore:

Variant	Effect	Δscore
11:1438392:G:GG	donor_gain	1.0000
11:1440784:GCAG:G	acceptor_loss	1.0000
11:1440786:AGG:A	acceptor_loss	1.0000
11:1440925:TATG:T	donor_gain	1.0000
11:1440926:ATG:A	donor_gain	1.0000
11:1440926:ATGGT:A	donor_loss	1.0000
11:1440929:G:GG	donor_gain	1.0000
11:1440929:GT:G	donor_loss	1.0000
11:1442484:CCCCA:C	acceptor_loss	1.0000
11:1442485:CCCAG:C	acceptor_loss	1.0000
11:1442486:CCA:C	acceptor_loss	1.0000
11:1442487:CA:C	acceptor_loss	1.0000
11:1442488:A:AG	acceptor_gain	1.0000
11:1442489:G:GT	acceptor_gain	1.0000
11:1442489:GC:G	acceptor_gain	1.0000
11:1442489:GCC:G	acceptor_gain	1.0000
11:1442489:GCCA:G	acceptor_gain	1.0000
11:1442489:GCCAC:G	acceptor_gain	1.0000
11:1442492:ACAGG:A	acceptor_gain	1.0000
11:1442600:GCT:G	donor_gain	1.0000
11:1442603:GTGG:G	donor_gain	1.0000
11:1442605:GG:G	donor_gain	1.0000
11:1442606:GG:G	donor_gain	1.0000
11:1442607:G:GG	donor_gain	1.0000
11:1443486:CA:C	acceptor_loss	1.0000
11:1443487:A:AG	acceptor_gain	1.0000
11:1443487:AG:A	acceptor_gain	1.0000
11:1443487:AGG:A	acceptor_gain	1.0000
11:1443487:AGGG:A	acceptor_gain	1.0000
11:1443488:G:A	acceptor_loss	1.0000

AlphaMissense

4820 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:1390331:T:A	V16D	1.000
11:1390333:G:A	G17R	1.000
11:1390333:G:C	G17R	1.000
11:1390333:G:T	G17W	1.000
11:1390334:G:A	G17E	1.000
11:1390339:T:G	Y19D	1.000
11:1390358:T:C	L25P	1.000
11:1390360:G:A	G26S	1.000
11:1390360:G:C	G26R	1.000
11:1390360:G:T	G26C	1.000
11:1390361:G:A	G26D	1.000
11:1390361:G:T	G26V	1.000
11:1390366:G:A	G28R	1.000
11:1390366:G:C	G28R	1.000
11:1390366:G:T	G28W	1.000
11:1390367:G:A	G28E	1.000
11:1390367:G:C	G28A	1.000
11:1390367:G:T	G28V	1.000
11:1390373:C:T	T30I	1.000
11:1390375:G:C	G31R	1.000
11:1390375:G:T	G31C	1.000
11:1436040:G:A	G31D	1.000
11:1436040:G:T	G31V	1.000
11:1436043:T:C	L32P	1.000
11:1436045:G:A	V33M	1.000
11:1436046:T:A	V33E	1.000
11:1436046:T:C	V33A	1.000
11:1436048:A:G	K34E	1.000
11:1436050:G:C	K34N	1.000
11:1436050:G:T	K34N	1.000

dbSNP variants (sampled 300 via entrez): RS1000030983 (11:1393275 C>T), RS1000103324 (11:1443001 A>G), RS1000201312 (11:1396200 C>T), RS1000209858 (11:1416727 G>A), RS1000211975 (11:1459359 C>G,T), RS1000253517 (11:1396314 C>G,T), RS1000272644 (11:1399974 C>T), RS1000311695 (11:1390873 G>T), RS1000317768 (11:1463081 G>A,T), RS1000322334 (11:1455907 G>C), RS1000324807 (11:1449576 G>T), RS1000376767 (11:1406551 G>A,T), RS1000447690 (11:1425872 T>A,C), RS1000499312 (11:1404293 C>T), RS1000531021 (11:1460052 C>A,T)

Disease associations

OMIM: gene MIM:609236 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
complex neurodevelopmental disorder	Definitive	Autosomal dominant
neurodevelopmental disorder	Strong	Autosomal dominant
autosomal dominant non-syndromic intellectual disability	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
complex neurodevelopmental disorder	Definitive	AD

Mondo (5): breast ductal adenocarcinoma (MONDO:0005590), neurodevelopmental disorder (MONDO:0700092), complex neurodevelopmental disorder (MONDO:0100038), intellectual disability (MONDO:0001071), autosomal dominant non-syndromic intellectual disability (MONDO:0015802)

Orphanet (2): Non-specific syndromic intellectual disability (Orphanet:528084), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST001974_4	Idiopathic pulmonary fibrosis	1.000000e-12
GCST001974_5	Idiopathic pulmonary fibrosis	3.000000e-11
GCST003878_3	Heroin dependence	4.000000e-06
GCST010277_7	Gout	4.000000e-07
GCST010703_211	Brain morphology (MOSTest)	2.000000e-11

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0000768	idiopathic pulmonary fibrosis
EFO:0004346	neuroimaging measurement

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D018270	Carcinoma, Ductal, Breast	C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D065886	Neurodevelopmental Disorders	F03.625

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL4574 (SINGLE PROTEIN), CHEMBL6066543 (PROTEIN COMPLEX)

Molecules with ChEMBL bioactivity

10 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 97,617 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL3545311	BRIGATINIB	4	5,634
CHEMBL535	SUNITINIB	4	79,020
CHEMBL608533	MIDOSTAURIN	4	7,259
CHEMBL603469	LESTAURTINIB	3
CHEMBL1721885	SU-014813	2	363
CHEMBL230011	TG100-115	2	1,504
CHEMBL4303241	BAY-1161909	2	47
CHEMBL1908394	GSK-461364	1	1,093
CHEMBL1908397	KW-2449	1	622
CHEMBL296468	BMS-387032	1	2,075

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

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: enzyme — BRSK subfamily

Most potent curated ligand interactions (1 total), top 1:

Ligand	Action	Affinity	Parameter
SU6656	Inhibition	7.0	pIC50

Binding affinities (BindingDB)

10 measured of 24 human assays (24 total across all organisms); most potent 10 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value	Patent
1-(4-methoxyphenyl)-7-oxo-6-[4-(2-oxopiperidin-1-yl)phenyl]-1H,4H,5H,6H,7H-pyrazolo[3,4-c]pyridine-3-carboxamide	KI	0.075 nM
Staurosporine	KD	1.7 nM
1-(4-methoxyphenyl)-7-oxo-6-[1-(2-oxopyrrolidin-3-yl)piperidin-4-yl]-4,5-dihydropyrazolo[5,4-c]pyridine-3-carboxamide	KI	30 nM	US-9938272: Hydrazine compound as blood coagulation factor Xa inhibitor
1-(4-Methoxyphenyl)-N5-(1-(3-oxomorpholino)piperidin-4-yl)-1H-pyrazole-3,5-dicarboxamide	KI	30 nM	US-9938272: Hydrazine compound as blood coagulation factor Xa inhibitor
3-(7-Oxo-6-(1-(3-oxomorpholino)piperidin-4-yl)-3-(trifluoromethyl)-4,5,6,7-tetrahydro-1H-pyrazolo[3,4-c]pyridin-1-yl)benzamide	KI	30 nM	US-9938272: Hydrazine compound as blood coagulation factor Xa inhibitor
PKC-412	KD	190 nM
7-Oxo-6-(1-(3-oxomorpholino)piperidin-4-yl)-1-(4-(trifluoromethoxy)phenyl)-4,5,6,7-tetr a hydro-1H-pyrazolo[3,4-c]pyridine-3-carboxamide	KI	525 nM	US-9938272: Hydrazine compound as blood coagulation factor Xa inhibitor
5-[(Z)-(5-fluoranyl-2-oxidanylidene-1H-indol-3-ylidene)methyl]-2,4-dimethyl-N-[(2S)-3-morpholin-4-yl-2-oxidanyl-propyl]-1H-pyrrole-3-carboxamide	KD	2600 nM
1-Acyl-1H-[1,2,4]triazole-3,5-diamine Analogue 3b	KD	3100 nM
N-[2-(diethylamino)ethyl]-5-[(Z)-(5-fluoro-2-oxo-1,2-dihydro-3H-indol-3-ylidene)methyl]-2,4-dimethyl-1H-pyrrole-3-carboxamide	KD	3500 nM

ChEMBL bioactivities

36 potent at pChembl≥5 of 37 total, top 26 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
8.63	IC50	2.33	nM	STAUROSPORINE
8.48	IC50	3.29	nM	STAUROSPORINE
8.46	Kd	3.5	nM	STAUROSPORINE
7.80	Kd	16	nM	LESTAURTINIB
7.52	Ki	30	nM	CHEMBL5919505
7.52	Ki	30	nM	CHEMBL5912703
7.52	Ki	30	nM	CHEMBL6013950
7.38	Kd	42	nM	CHEMBL1241674
7.05	IC50	90	nM	CHEMBL1231206
7.04	Kd	92	nM	HESPERADIN
7.00	IC50	100	nM	CHEMBL605003
6.90	IC50	125	nM	BRIGATINIB
6.72	Kd	190	nM	TAE-684
6.28	Ki	525	nM	CHEMBL5877639
6.19	Kd	650	nM	MIDOSTAURIN
5.96	IC50	1100	nM	CHEMBL1240885
5.96	Kd	1100	nM	SUNITINIB
5.92	Kd	1200	nM	TG100-115
5.92	Kd	1200	nM	KW-2449
5.72	IC50	1900	nM	CHEMBL2207198
5.57	Kd	2700	nM	JNJ-7706621
5.43	IC50	3700	nM	CHEMBL2207208
5.39	Kd	4100	nM	SU-014813
5.25	Kd	5600	nM	BMS-387032
5.08	Kd	8300	nM	GSK-461364
5.05	Kd	8900	nM	CHEMBL386051

PubChem BioAssay actives

30 with measured affinity, of 756 total; 20 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
(2S,3R,4R,6R)-3-methoxy-2-methyl-4-(methylamino)-29-oxa-1,7,17-triazaoctacyclo[12.12.2.12,6.07,28.08,13.015,19.020,27.021,26]nonacosa-8,10,12,14,19,21,23,25,27-nonaen-16-one	1531598: Inhibition of human BRSK2 using KKLNRTLSFAEPG as substrate by [gamma-33P]-ATP assay	ic50	0.0023	uM
(15S,16S,18R)-16-hydroxy-16-(hydroxymethyl)-15-methyl-28-oxa-4,14,19-triazaoctacyclo[12.11.2.115,18.02,6.07,27.08,13.019,26.020,25]octacosa-1,6,8,10,12,20,22,24,26-nonaen-3-one	507850: Binding affinity to BRSK2	kd	0.0160	uM
2-(4-amino-1-propan-2-ylpyrazolo[3,4-d]pyrimidin-3-yl)-1H-indol-5-ol	624929: Binding constant for BRSK2 kinase domain	kd	0.0420	uM
(15R)-15-methyl-5-(6-methyl-3-pyridinyl)-11-thia-6,14,17-triazatetracyclo[8.8.0.02,7.012,18]octadeca-1(10),2(7),3,5,8,12(18)-hexaen-13-one	2167726: Inhibition of BrSK2 (unknown origin)	ic50	0.0900	uM
N-[2-hydroxy-3-[C-phenyl-N-[4-(piperidin-1-ylmethyl)phenyl]carbonimidoyl]-1H-indol-5-yl]ethanesulfonamide	389048: Binding affinity to human BRSK2	kd	0.0920	uM
(3Z)-N,N-dimethyl-2-oxo-3-(4,5,6,7-tetrahydro-1H-indol-2-ylmethylidene)-1H-indole-5-sulfonamide	436061: Inhibition of BRSK2 in the presence of 50uM ATP	ic50	0.1000	uM
Brigatinib	2182832: Inhibition of human BRSK2 using KKLNRTLSFAEPG as substrate in presence of [gamma33P]-ATP by HotSpot assay	ic50	0.1250	uM
5-chloro-2-N-[2-methoxy-4-[4-(4-methylpiperazin-1-yl)piperidin-1-yl]phenyl]-4-N-(2-propan-2-ylsulfonylphenyl)pyrimidine-2,4-diamine	624929: Binding constant for BRSK2 kinase domain	kd	0.1900	uM
Midostaurin	435783: Binding constant for full-length BRSK2	kd	0.6500	uM
3-N-(4-fluorophenyl)-2H-pyrazolo[3,4-d]pyrimidine-3,4-diamine	436061: Inhibition of BRSK2 in the presence of 50uM ATP	ic50	1.1000	uM
Sunitinib	435783: Binding constant for full-length BRSK2	kd	1.1000	uM
3-[2,4-diamino-7-(3-hydroxyphenyl)pteridin-6-yl]phenol	624929: Binding constant for BRSK2 kinase domain	kd	1.2000	uM
[4-[(E)-2-(1H-indazol-3-yl)ethenyl]phenyl]-piperazin-1-ylmethanone	624929: Binding constant for BRSK2 kinase domain	kd	1.2000	uM
N-[3-[[5-cyclopropyl-2-(4-morpholin-4-ylanilino)pyrimidin-4-yl]amino]propyl]cyclobutanecarboxamide	718686: Inhibition of BRSK2	ic50	1.9000	uM
4-[[5-amino-1-(2,6-difluorobenzoyl)-1,2,4-triazol-3-yl]amino]benzenesulfonamide	435783: Binding constant for full-length BRSK2	kd	2.7000	uM
N-[3-[[5-cyclopropyl-2-[(1-methylpyrazol-4-yl)amino]pyrimidin-4-yl]amino]propyl]cyclobutanecarboxamide	718686: Inhibition of BRSK2	ic50	3.7000	uM
5-[(Z)-(5-fluoro-2-oxo-1H-indol-3-ylidene)methyl]-N-[(2S)-2-hydroxy-3-morpholin-4-ylpropyl]-2,4-dimethyl-1H-pyrrole-3-carboxamide	435783: Binding constant for full-length BRSK2	kd	4.1000	uM
N-[5-[(5-tert-butyl-1,3-oxazol-2-yl)methylsulfanyl]-1,3-thiazol-2-yl]piperidine-4-carboxamide	624929: Binding constant for BRSK2 kinase domain	kd	5.6000	uM
5-[6-[(4-methylpiperazin-1-yl)methyl]benzimidazol-1-yl]-3-[(1R)-1-[2-(trifluoromethyl)phenyl]ethoxy]thiophene-2-carboxamide	624929: Binding constant for BRSK2 kinase domain	kd	8.3000	uM
6-(2,6-dichlorophenyl)-8-methyl-2-(3-methylsulfanylanilino)pyrido[2,3-d]pyrimidin-7-one	624929: Binding constant for BRSK2 kinase domain	kd	8.9000	uM

CTD chemical–gene interactions

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Arsenic	increases abundance, increases expression, affects methylation	2
Benzo(a)pyrene	affects methylation, increases methylation	2
Valproic Acid	decreases expression, increases methylation	2
Aflatoxin B1	increases methylation	2
mono-(2-ethylhexyl)phthalate	increases expression	1
sulforaphane	decreases expression	1
sodium arsenite	increases expression, increases abundance	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	affects methylation	1
coumarin	decreases phosphorylation	1
CGP 52608	affects binding, increases reaction	1
abrine	decreases expression	1
bisphenol S	decreases methylation	1
Sunitinib	increases expression	1
Acetaminophen	increases expression	1
Atrazine	decreases expression	1
Cisplatin	decreases expression	1
Methapyrilene	increases methylation	1
Smoke	decreases expression	1
Tretinoin	decreases expression	1
Urethane	decreases expression	1
Cadmium Chloride	decreases expression	1

ChEMBL screening assays

230 unique, capped per target: 230 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1004138	Binding	Inhibition of BRSK2 at 1 uM relative to control	Novel potent BRAF inhibitors: toward 1 nM compounds through optimization of the central phenyl ring. — J Med Chem

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B1LK	Abcam HeLa BRSK2 KO	Cancer cell line	Female
CVCL_SF82	HAP1 BRSK2 (-) 1	Cancer cell line	Male
CVCL_SF83	HAP1 BRSK2 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

299 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT04586348	PHASE4	UNKNOWN	Prenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115	PHASE4	UNKNOWN	Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties,
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT02559102	PHASE3	COMPLETED	Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079	PHASE3	COMPLETED	Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480	PHASE3	RECRUITING	Reducing Missed Appointments
NCT07377032	PHASE3	RECRUITING	TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT03414970	PHASE3	ACTIVE_NOT_RECRUITING	Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer
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
NCT00461344	PHASE2	TERMINATED	Docetaxel + Doxorubicin as Neoadjuvant Chemotherapy in Patients With Breast Cancer
NCT07499999	PHASE2	NOT_YET_RECRUITING	Randomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer
NCT02304302	PHASE2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT03862950	PHASE2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226	PHASE2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856	PHASE2	COMPLETED	Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT00503191	PHASE1	COMPLETED	NeuroModulation Technique Treatment of Autism
NCT04475848	PHASE1	COMPLETED	A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants
NCT06300398	PHASE1	COMPLETED	IAMA-6 Oral Dose Study in Healthy Adults
NCT05273320	PHASE1	COMPLETED	Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361	PHASE1	ENROLLING_BY_INVITATION	Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764	PHASE1	COMPLETED	Use of MRI and cTBS for Catatonia in Autism
NCT06586827	PHASE1	COMPLETED	Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940	PHASE1	NOT_YET_RECRUITING	Escalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT06310681	Not specified	COMPLETED	Pilot Testing of a Co-adapted Group Programme for Parents/Carers of Children With Complex Neurodisability
NCT07303049	Not specified	NOT_YET_RECRUITING	Cognitive Benefit of Intensive Rehabilitation Using Rhythmic Music Training in Children With Complex Neurodevelopmental Disorder
NCT01783041	PHASE2/PHASE3	COMPLETED	Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants
NCT05767385	PHASE2/PHASE3	RECRUITING	Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior
NCT05675098	EARLY_PHASE1	NOT_YET_RECRUITING	Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy
NCT00783783	Not specified	COMPLETED	CYP2D6 Pharmacogenetics in Risperidone-Treated Children
NCT01778504	Not specified	RECRUITING	Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders
NCT01850784	Not specified	UNKNOWN	High Energy Formula Feeding in Infants With Congenital Heart Disease
NCT01922791	Not specified	COMPLETED	Nutrition and Pregnancy Intervention Study
NCT01942525	Not specified	UNKNOWN	Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants
NCT02003170	Not specified	COMPLETED	Etiology and Early Diagnosis of Neurodevelopmental Disorders