GABBR2

Summary

GABBR2 (gamma-aminobutyric acid type B receptor subunit 2, HGNC:4507) is a protein-coding gene on chromosome 9q22.33, encoding Gamma-aminobutyric acid type B receptor subunit 2 (O75899). Component of a heterodimeric G-protein coupled receptor for GABA, formed by GABBR1 and GABBR2.

The multi-pass membrane protein encoded by this gene belongs to the G-protein coupled receptor 3 family and GABA-B receptor subfamily. The GABA-B receptors inhibit neuronal activity through G protein-coupled second-messenger systems, which regulate the release of neurotransmitters, and the activity of ion channels and adenylyl cyclase. This receptor subunit forms an active heterodimeric complex with GABA-B receptor subunit 1, neither of which is effective on its own. Allelic variants of this gene have been associated with nicotine dependence.

Source: NCBI Gene 9568 — RefSeq curated summary.

At a glance

• Gene–disease (curated): neurodevelopmental disorder with poor language and loss of hand skills (Strong, GenCC) — +3 more curated relationships
• GWAS associations: 12
• Clinical variants (ClinVar): 1,152 total — 4 pathogenic, 8 likely-pathogenic
• Phenotypes (HPO): 114
• Druggable target: yes — 4 molecules with ChEMBL bioactivity
• MANE Select transcript: NM_005458

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4507
Approved symbol	GABBR2
Name	gamma-aminobutyric acid type B receptor subunit 2
Location	9q22.33
Locus type	gene with protein product
Status	Approved
Aliases	HG20, GABABR2, GPRC3B
Ensembl gene	ENSG00000136928
Ensembl biotype	protein_coding
OMIM	607340
Entrez	9568

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 7 protein_coding_CDS_not_defined, 5 protein_coding, 2 retained_intron

ENST00000259455, ENST00000477471, ENST00000634227, ENST00000634314, ENST00000634354, ENST00000634457, ENST00000634919, ENST00000635462, ENST00000636575, ENST00000637410, ENST00000637717, ENST00000638001, ENST00000931526, ENST00000947376

RefSeq mRNA: 1 — MANE Select: NM_005458 NM_005458

CCDS: CCDS6736

Canonical transcript exons

ENST00000259455 — 19 exons

Exon	Start	End
ENSE00000926518	98406081	98406141
ENSE00000983183	98394175	98394255
ENSE00000983184	98388854	98389004
ENSE00000983185	98385640	98385772
ENSE00000983186	98371464	98371571
ENSE00000983187	98362715	98362837
ENSE00000983188	98311095	98311205
ENSE00000983189	98306121	98306345
ENSE00000983190	98303241	98303423
ENSE00000983191	98299224	98299353
ENSE00000983192	98293785	98293902
ENSE00001022837	98577935	98578072
ENSE00001038234	98453981	98454217
ENSE00001038246	98473146	98473346
ENSE00001185221	98288109	98290749
ENSE00001263335	98708417	98708935
ENSE00003483264	98496413	98496514
ENSE00003539642	98541873	98542043
ENSE00003638189	98480932	98480997

Expression profiles

Bgee: expression breadth ubiquitous, 193 present calls, max score 99.72.

FANTOM5 (CAGE): breadth broad, TPM avg 3.9201 / max 173.9651, expressed in 367 samples.

FANTOM5 promoters (13 alternative TSS)

Promoter ID	TPM avg	Samples expressed
101691	2.6872	257
101698	0.3870	105
101692	0.2139	77
101694	0.1806	93
101693	0.0874	44
101696	0.0631	29
101690	0.0571	35
101697	0.0553	27
101682	0.0479	20
101695	0.0449	28

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
Brodmann (1909) area 23	UBERON:0013554	99.72	gold quality
lateral nuclear group of thalamus	UBERON:0002736	99.71	gold quality
middle temporal gyrus	UBERON:0002771	99.60	gold quality
endothelial cell	CL:0000115	98.97	gold quality
superior frontal gyrus	UBERON:0002661	98.92	gold quality
Brodmann (1909) area 46	UBERON:0006483	98.80	gold quality
Brodmann (1909) area 10	UBERON:0013541	98.70	gold quality
orbitofrontal cortex	UBERON:0004167	98.68	gold quality
parietal lobe	UBERON:0001872	98.57	gold quality
postcentral gyrus	UBERON:0002581	98.55	gold quality
frontal pole	UBERON:0002795	98.43	gold quality
CA1 field of hippocampus	UBERON:0003881	98.43	gold quality
primary visual cortex	UBERON:0002436	98.23	gold quality
occipital lobe	UBERON:0002021	98.15	gold quality
entorhinal cortex	UBERON:0002728	98.01	gold quality
cerebellar vermis	UBERON:0004720	97.48	gold quality
pons	UBERON:0000988	97.10	gold quality
substantia nigra pars compacta	UBERON:0001965	96.86	gold quality
substantia nigra pars reticulata	UBERON:0001966	95.95	gold quality
frontal cortex	UBERON:0001870	95.90	gold quality
frontal lobe	UBERON:0016525	95.90	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	95.48	gold quality
paraflocculus	UBERON:0005351	95.37	gold quality
prefrontal cortex	UBERON:0000451	95.34	gold quality
neocortex	UBERON:0001950	95.05	gold quality
Brodmann (1909) area 9	UBERON:0013540	94.82	gold quality
cerebral cortex	UBERON:0000956	94.79	gold quality
cortical plate	UBERON:0005343	94.64	gold quality
adult organism	UBERON:0007023	94.34	gold quality
right frontal lobe	UBERON:0002810	94.06	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-HCAD-25	yes	35.34
E-ANND-3	yes	5.36

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

241 targeting GABBR2, 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-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-371A-3P	99.99	66.77	91
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4531	99.99	69.70	3181
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-4650-5P	99.98	64.69	999
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197

Literature-anchored findings (GeneRIF, showing 33)

• Increased expression of GABA(B) receptor subtype 2 indicates augmented presynaptic inhibition of glutamate release as a possible protective mechanism in temporal lobe epilepsy. (PMID:14625043)
• GABA(B) receptor subunit GABA(B)R2 is found on the same neurons and follows the same distribution patterns in the basal ganglia as the GABABR1 receptor subunit. (PMID:14961561)
• Association of the GABA(B)R1 with the GABA(A) receptor gamma2S subunit robustly promotes cell surface expression of GABA(B)R1 in the absence of GABA(B)R2, that is usually required for efficient trafficking of GABA(B)R1 to the cell surface. (PMID:14966130)
• The GABA(B) receptor may be present as a heterodimer with subunits of GABA(B1) and GABA(B2) in the human colon. (PMID:14978362)
• Functional GABA(B) receptors are expressed in human airway smooth muscle cells (PMID:16829628)
• GABA(B) receptor stability and signaling can be modulated via GABA(B) receptor subunit 2 interactions with the PDZ scaffold protein Mupp1, which may contribute to cell-specific regulation of GABA(B) receptors in the central nervous system. (PMID:17145756)
• Levels of GABBR1 are significantly decreased in the cerebellum of patients with autism. (PMID:19002745)
• variants of GABBR1 and GABBR2 are associated with nicotine dependence in European- and African-American populations (PMID:19763258)
• GABA(B) receptor subunit 2 levels are significantly decreased in the cingulate cortex and fusiform gyrus of autism patients compared to controls. (PMID:20557420)
• The results of this study provided evidence of Gabbr2 Deficit in schizophrenia and mood disorders. (PMID:21303731)
• Gamma-aminobutyric acid type B (GABA(B)) receptor internalization is regulated by the R2 subunit. (PMID:21724853)
• The results indicate that there may be specific GABA receptor gene expression variation in migraine, particularly involving the GABRA3 and GABBR2 genes. (PMID:21971078)
• and GABABR2 proteins are reduced in the prefrontal cortex of aged rats but these reductions are not associated with spatial learning abilities. (PMID:22169202)
• Results show that GABA(B) receptors R1 and R2 must be activated for the modulation of N-type (Ca(v)2.2) calcium channels by analgesic alpha-conotoxins Vc1.1 and RgIA. (PMID:22613715)
• The GABBR2 ectodomain adopts a constitutively open conformation, suggesting a structural asymmetry in the active state of GABA(B) receptor that is unique to the GABAergic system. (PMID:22660477)
• gamma-aminobutyric acidB receptor proteasomal degradation is mediated by the interaction of the GABAB2 C terminus with the proteasomal ATPase Rtp6 and regulated by neuronal activity (PMID:24482233)
• GABBR2 receptors are expressed in aortic smooth muscle cells and regulate the [Ca(2+)]i via a Gi/o-coupled receptor pathway and a phospholipase C activation pathway. (PMID:24682435)
• The endoplasmic reticulum retention signal of GBR1 is not part of the core coiled-coil structure, suggesting that it is sterically shielded by GBR2 upon heterodimer formation. (PMID:24778228)
• Putative GABAA and ASIC1a channels functionally interact with each other, possibly via an inter-molecular association by forming a novel protein complex. (PMID:24923912)
• The rare variants in GABBR2 were significantly associated with smoking status. (PMID:25450229)
• a GABBR2 variant, predicted to be disease-causative, was significantly associated with corticospinal excitability at corrected levels. A subsequent uncorrected exploratory analysis revealed associations between GABBR2, GABRA2 and DRD2 variants with transcranial magnetic stimulation measures of corticospinal excitability and cortical inhibition in Huntington’s disease, as well as with age at onset. (PMID:27033668)
• There was no statistically significant association for the two SNPs of the GABBR1 gene (rs29230 and rs29267). However, a significant difference between AUD individuals and controls was observed at genotype level for rs2900512 of GABBR2 gene. (PMID:28118741)
• Using a ligand-guided approach, eight GABAB2 homology models have been chosen as possible structural representatives of the transmembrane domain of the GABAB2 subunit. (PMID:28323850)
• We demonstrated that GABBR2 gene might be a novel potential epigenetic treatment target with induction erlotinib treatment for stage IIIa (N2) EGFR 19 deletion lung adenocarcinoma (PMID:28490462)
• GABBR2 is a genetic factor that determines Rett syndrome- or epileptic encephalopathy-like phenotype expression depending on the variant positions. GABBR2-mediated gamma-aminobutyric acid signaling is a crucial factor in determining the severity and nature of neurodevelopmental phenotypes. (PMID:28856709)
• Missense Mutation in GABBR2 gene is associated with Neurodevelopmental Disorders. (PMID:28867141)
• GABA B receptor expression in myometrium (PMID:30343129)
• Structural basis of the activation of a metabotropic GABA receptor. (PMID:32555460)
• Structures of metabotropic GABAB receptor. (PMID:32580208)
• Structure of human GABAB receptor in an inactive state. (PMID:32581365)
• Structural Basis for Activation of the Heterodimeric GABAB Receptor. (PMID:33058878)
• A preliminary genetic association study of GAD1 and GABAB receptor genes in patients with treatment-resistant schizophrenia. (PMID:34845648)
• GABBR2 as a Downstream Effector of the Androgen Receptor Induces Cisplatin Resistance in Bladder Cancer. (PMID:37762034)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	gabbr2	ENSDARG00000061042
danio_rerio		ENSDARG00000111795
mus_musculus	Gabbr2	ENSMUSG00000039809
rattus_norvegicus	Gabbr2	ENSRNOG00000008431
drosophila_melanogaster	GABA-B-R2	FBGN0027575
caenorhabditis_elegans		WBGENE00022675

Paralogs (2): GPR156 (ENSG00000175697), GABBR1 (ENSG00000204681)

Protein

Protein identifiers

Gamma-aminobutyric acid type B receptor subunit 2 — O75899 (reviewed: O75899)

Alternative names: G-protein coupled receptor 51, HG20

All UniProt accessions (4): A0A0U1RR59, A0A1B0GW60, O75899, H9NIL8

UniProt curated annotations — full annotation on UniProt →

Function. Component of a heterodimeric G-protein coupled receptor for GABA, formed by GABBR1 and GABBR2. Within the heterodimeric GABA receptor, only GABBR1 seems to bind agonists, while GABBR2 mediates coupling to G proteins. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling inhibits adenylate cyclase, stimulates phospholipase A2, activates potassium channels, inactivates voltage-dependent calcium-channels and modulates inositol phospholipid hydrolysis. Plays a critical role in the fine-tuning of inhibitory synaptic transmission. Pre-synaptic GABA receptor inhibits neurotransmitter release by down-regulating high-voltage activated calcium channels, whereas postsynaptic GABA receptor decreases neuronal excitability by activating a prominent inwardly rectifying potassium (Kir) conductance that underlies the late inhibitory postsynaptic potentials. Not only implicated in synaptic inhibition but also in hippocampal long-term potentiation, slow wave sleep, muscle relaxation and antinociception.

Subunit / interactions. Heterodimer of GABBR1 and GABBR2. Homodimers may form, but are inactive. Interacts (via C-terminus) with ATF4 (via leucine zipper domain).

Subcellular location. Cell membrane. Postsynaptic cell membrane.

Tissue specificity. Highly expressed in brain, especially in cerebral cortex, thalamus, hippocampus, frontal, occipital and temporal lobe, occipital pole and cerebellum, followed by corpus callosum, caudate nucleus, spinal cord, amygdala and medulla. Weakly expressed in heart, testis and skeletal muscle.

Disease relevance. Neurodevelopmental disorder with poor language and loss of hand skills (NDPLHS) [MIM:617903] An autosomal dominant disorder characterized by psychomotor developmental stagnation or regression. NDPLHS manifest in the first years of life as loss of purposeful hand movements, loss of language, and intellectual disability. The disease is caused by variants affecting the gene represented in this entry. Developmental and epileptic encephalopathy 59 (DEE59) [MIM:617904] A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE59 is an autosomal dominant condition characterized by onset of refractory seizures in early infancy. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. Alpha-helical parts of the C-terminal intracellular region mediate heterodimeric interaction with GABBR1.

Similarity. Belongs to the G-protein coupled receptor 3 family. GABA-B receptor subfamily.

RefSeq proteins (1): NP_005449* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000337	GPCR_3	Family
IPR001828	ANF_lig-bd_rcpt	Domain
IPR002455	GPCR3_GABA-B	Family
IPR002457	GPCR_3_GABA_rcpt_B2	Family
IPR017978	GPCR_3_C	Domain
IPR017979	GPCR_3_CS	Conserved_site
IPR028082	Peripla_BP_I	Homologous_superfamily
IPR041689	GBR2_CC	Domain

Pfam: PF00003, PF01094, PF18455

UniProt features (115 total): helix 28, strand 25, turn 12, modified residue 9, topological domain 8, sequence variant 8, transmembrane region 7, glycosylation site 5, sequence conflict 4, disulfide bond 3, signal peptide 1, chain 1, region of interest 1, coiled-coil region 1, compositionally biased region 1, mutagenesis site 1

Structure

Experimental structures (PDB)

26 structures.

PDB	Method	Resolution (Å)
4PAS	X-RAY DIFFRACTION	1.62
4MS4	X-RAY DIFFRACTION	1.9
4MR7	X-RAY DIFFRACTION	2.15
4MR8	X-RAY DIFFRACTION	2.15
4MQF	X-RAY DIFFRACTION	2.22
4MS1	X-RAY DIFFRACTION	2.25
4MQE	X-RAY DIFFRACTION	2.35
4MR9	X-RAY DIFFRACTION	2.35
6OCP	X-RAY DIFFRACTION	2.35
4F11	X-RAY DIFFRACTION	2.38
4MS3	X-RAY DIFFRACTION	2.5
4MRM	X-RAY DIFFRACTION	2.86
7C7S	ELECTRON MICROSCOPY	2.9
7C7Q	ELECTRON MICROSCOPY	3
4F12	X-RAY DIFFRACTION	3.02
6M8R	X-RAY DIFFRACTION	3.2
6WIV	ELECTRON MICROSCOPY	3.3
7EB2	ELECTRON MICROSCOPY	3.5
7CUM	ELECTRON MICROSCOPY	3.52
6W2X	ELECTRON MICROSCOPY	3.6
6UO8	ELECTRON MICROSCOPY	3.63
6VJM	ELECTRON MICROSCOPY	3.97
7CA3	ELECTRON MICROSCOPY	4.5
6UO9	ELECTRON MICROSCOPY	4.8
6UOA	ELECTRON MICROSCOPY	6.3
7CA5	ELECTRON MICROSCOPY	7.6

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O75899-F1	78.00	0.46

Antibody-complex structures (SAbDab): 1 — 7EB2

Functional residue map

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

Post-translational modifications (9): 776, 779, 819, 884, 893, 913, 916, 920, 924

Disulfide bonds (3): 108–135, 237–266, 265–302

Glycosylation sites (5): 90, 298, 389, 404, 453

Mutagenesis-validated functional residues (1):

Position	Phenotype
118	impairs interaction with gabbr1. decreases signaling via g-proteins.

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-1296041	Activation of G protein gated Potassium channels
R-HSA-418594	G alpha (i) signalling events
R-HSA-420499	Class C/3 (Metabotropic glutamate/pheromone receptors)
R-HSA-977444	GABA B receptor activation
R-HSA-997272	Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits

MSigDB gene sets: 416 (showing top): GNF2_RTN1, MULLIGHAN_NPM1_SIGNATURE_3_UP, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, BENPORATH_ES_WITH_H3K27ME3, TGCACTT_MIR519C_MIR519B_MIR519A, REACTOME_POTASSIUM_CHANNELS, REACTOME_INWARDLY_RECTIFYING_K_CHANNELS, PEREZ_TP63_TARGETS, GOBP_GAMMA_AMINOBUTYRIC_ACID_SIGNALING_PATHWAY, TGACCTY_ERR1_Q2, AP2_Q3, ACTGCAG_MIR173P, GGGTGGRR_PAX4_03, TANG_SENESCENCE_TP53_TARGETS_UP, GOBP_CELL_CELL_SIGNALING

GO Biological Process (8): G protein-coupled receptor signaling pathway (GO:0007186), adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway (GO:0007193), negative regulation of adenylate cyclase activity (GO:0007194), gamma-aminobutyric acid signaling pathway (GO:0007214), chemical synaptic transmission (GO:0007268), synaptic transmission, GABAergic (GO:0051932), neuron-glial cell signaling (GO:0150099), signal transduction (GO:0007165)

GO Molecular Function (6): transmembrane signaling receptor activity (GO:0004888), G protein-coupled GABA receptor activity (GO:0004965), protein heterodimerization activity (GO:0046982), G protein-coupled receptor activity (GO:0004930), protein binding (GO:0005515), GABA receptor activity (GO:0016917)

GO Cellular Component (9): cytoplasm (GO:0005737), plasma membrane (GO:0005886), G protein-coupled receptor heterodimeric complex (GO:0038039), neuron projection (GO:0043005), postsynaptic membrane (GO:0045211), GABA receptor complex (GO:1902710), G protein-coupled GABA receptor complex (GO:1902712), membrane (GO:0016020), synapse (GO:0045202)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
G protein gated Potassium channels	1
GPCR downstream signalling	1
GPCR ligand binding	1
GABA receptor activation	1
Activation of GABAB receptors	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
G protein-coupled receptor activity	2
cell-cell signaling	2
GABA receptor activity	2
transmembrane signaling receptor activity	2
cellular anatomical structure	2
G protein-coupled receptor dimeric complex	2
signal transduction	1
adenylate cyclase-modulating G protein-coupled receptor signaling pathway	1
adenylate cyclase inhibitor activity	1
adenylate cyclase activity	1
negative regulation of catalytic activity	1
regulation of adenylate cyclase activity	1
anterograde trans-synaptic signaling	1
chemical synaptic transmission	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
signaling receptor activity	1
protein dimerization activity	1
G protein-coupled receptor signaling pathway	1
binding	1
intracellular anatomical structure	1
membrane	1
cell periphery	1
plasma membrane bounded cell projection	1
synaptic membrane	1
postsynapse	1
signaling receptor complex	1
GABA receptor complex	1
cell junction	1

Protein interactions and networks

STRING

1914 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GABBR2	GABBR1	Q9UBS5	985
GABBR2	CHRNA2	Q15822	768
GABBR2	JAKMIP1	Q96N16	744
GABBR2	GABRB3	P28472	724
GABBR2	A4GALT	Q9NPC4	718
GABBR2	GRIN2B	Q13224	699
GABBR2	SLC17A6	Q9P2U8	684
GABBR2	CHRNA4	P43681	681
GABBR2	SLC17A7	Q9P2U7	680
GABBR2	CHRNB2	P17787	662
GABBR2	CHRNA5	P30532	660
GABBR2	GTPBP4	Q9BZE4	643
GABBR2	KCNJ6	P48051	592
GABBR2	DRD2	P14416	586
GABBR2	GABRA1	P14867	586

IntAct

32 interactions, top by confidence:

A	B	Type	Score
GABBR1	GABBR2	psi-mi:“MI:0407”(direct interaction)	0.790
GABBR2	GABBR1	psi-mi:“MI:0407”(direct interaction)	0.790
GABBR2	GABBR1	psi-mi:“MI:0407”(direct interaction)	0.740
GABBR1	GABBR2	psi-mi:“MI:0915”(physical association)	0.740
KCTD16	GABBR2	psi-mi:“MI:0407”(direct interaction)	0.640
GABBR2	KCTD16	psi-mi:“MI:0407”(direct interaction)	0.640
GABBR2	NSF	psi-mi:“MI:0915”(physical association)	0.610
NSF	GABBR2	psi-mi:“MI:0407”(direct interaction)	0.610
NSF	GABBR2	psi-mi:“MI:0403”(colocalization)	0.610
GABBR2	GNG2	psi-mi:“MI:0915”(physical association)	0.520
GABBR2	GLP1R	psi-mi:“MI:0915”(physical association)	0.510
GLP1R	GABBR2	psi-mi:“MI:0915”(physical association)	0.510
GABBR2	RIMS1	psi-mi:“MI:0915”(physical association)	0.500
Dlg4	GABBR2	psi-mi:“MI:0407”(direct interaction)	0.440
GABBR2	RNF170	psi-mi:“MI:0915”(physical association)	0.400
GABBR2	DRD2	psi-mi:“MI:0915”(physical association)	0.370
RIMS1	KIF2A	psi-mi:“MI:0914”(association)	0.350
RADX	DNAJA2	psi-mi:“MI:0914”(association)	0.350
Cacna1d	GABBR2	psi-mi:“MI:0403”(colocalization)	0.270
CERS2	GABBR2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (34): GABBR2 (Affinity Capture-Western), AKT1 (Affinity Capture-Western), GABBR2 (Affinity Capture-Western), GABBR2 (Two-hybrid), DDIT3 (Affinity Capture-Western), DDIT3 (Co-localization), SH3GL3 (Two-hybrid), GABBR2 (Co-crystal Structure), GABBR2 (Reconstituted Complex), GABBR2 (Affinity Capture-Western), GABBR2 (Affinity Capture-Western), CASR (Affinity Capture-Western), GABBR2 (Two-hybrid), GABBR2 (Two-hybrid), GABBR2 (Affinity Capture-Western)

ESM2 similar proteins: A0A0G2K1Q8, B2RX12, E9PU17, E9PX95, F1MWM0, O00329, O15438, O35600, O75899, O88563, O88871, O94911, O95477, P41233, P55205, P58428, P78363, Q09427, Q09428, Q09429, Q2NKY8, Q5BJS0, Q5R607, Q5ZI74, Q6TL19, Q7L2E3, Q7TNJ2, Q80T41, Q84M24, Q8CF82, Q8IUA7, Q8K440, Q8K441, Q8K442, Q8K448, Q8K449, Q8LPK0, Q8N139, Q8NCL4, Q8R420

Diamond homologs: G5ECB2, O75899, O88871, Q6PCP7, Q80T41, Q8K451, Q8NFN8, Q9UBS5, Q9WV18, Q9Z0U4, E9Q6I0, O62714, O70410, P35384, P41180, P48442, Q5T6X5, Q6TAC4, Q70VB1, Q8K4Z6, Q9QY96, P23385, P31421, P31422, P31424, P41594, P91685, P97772, Q09630, Q13255, Q14416, Q14832, Q14BI2, Q1ZZH1, Q3UVX5, Q54SW3, Q55AP3, Q5RAL3, Q5U9X3, Q9QYS2

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
GABBR2	“form complex”	“GABA-B receptor”	binding
PRKACA	“down-regulates activity”	GABBR2	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

1152 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	8
Uncertain significance	421
Likely benign	511
Benign	141

Top pathogenic / likely-pathogenic (12)

Variant ID	HGVS	Classification
1073462	NM_005458.8(GABBR2):c.1700C>T (p.Ala567Val)	Pathogenic
496588	NM_005458.8(GABBR2):c.2077G>T (p.Gly693Trp)	Pathogenic
496589	NM_005458.8(GABBR2):c.2084G>T (p.Ser695Ile)	Pathogenic
496590	NM_005458.8(GABBR2):c.2114T>A (p.Ile705Asn)	Pathogenic
1709440	NM_005458.8(GABBR2):c.493G>T (p.Asp165Tyr)	Likely pathogenic
1718680	NM_005458.8(GABBR2):c.1001C>T (p.Thr334Ile)	Likely pathogenic
2430201	NM_005458.8(GABBR2):c.2072A>G (p.Tyr691Cys)	Likely pathogenic
2444365	NM_005458.8(GABBR2):c.72_73insACCATGGTTCAGCCACATCTGTCACTTGCCAGTATTGGTACGCATTAAAGTAACTGGTCTGAAACGTTCTATCCAAGAACGCTTGAACTTCCAAGTTACTAATGAAGTAATTCAAC (p.Leu25delinsThrMetValGlnProHisLeuSerLeuAlaSerIleGlyThrHisTer)	Likely pathogenic
3376344	NM_005458.8(GABBR2):c.2029G>A (p.Glu677Lys)	Likely pathogenic
4072293	NM_005458.8(GABBR2):c.1723A>T (p.Thr575Ser)	Likely pathogenic
981375	NM_005458.8(GABBR2):c.2106G>A (p.Met702Ile)	Likely pathogenic
985861	NM_005458.8(GABBR2):c.635G>A (p.Arg212Gln)	Likely pathogenic

SpliceAI

4945 predictions. Top by Δscore:

Variant	Effect	Δscore
9:98293783:A:AC	donor_gain	1.0000
9:98293784:C:CG	donor_gain	1.0000
9:98293784:CT:C	donor_gain	1.0000
9:98293784:CTGTT:C	donor_gain	1.0000
9:98293907:A:AC	acceptor_gain	1.0000
9:98293907:A:C	acceptor_gain	1.0000
9:98299220:TTA:T	donor_loss	1.0000
9:98299349:TCCAG:T	acceptor_gain	1.0000
9:98299350:CCAG:C	acceptor_gain	1.0000
9:98299350:CCAGC:C	acceptor_gain	1.0000
9:98299351:CAGC:C	acceptor_gain	1.0000
9:98299354:C:CC	acceptor_gain	1.0000
9:98299354:CTAC:C	acceptor_loss	1.0000
9:98303419:ATGAG:A	acceptor_gain	1.0000
9:98303420:TGAG:T	acceptor_gain	1.0000
9:98303422:AG:A	acceptor_gain	1.0000
9:98303423:GCTGA:G	acceptor_loss	1.0000
9:98303424:C:CC	acceptor_gain	1.0000
9:98311089:ACCT:A	donor_loss	1.0000
9:98311090:CCTA:C	donor_loss	1.0000
9:98311091:CTACC:C	donor_loss	1.0000
9:98311093:A:AC	donor_gain	1.0000
9:98311093:A:C	donor_loss	1.0000
9:98311094:C:CC	donor_gain	1.0000
9:98311094:C:CT	donor_loss	1.0000
9:98311201:TCCGG:T	acceptor_gain	1.0000
9:98311202:CCGG:C	acceptor_gain	1.0000
9:98311202:CCGGC:C	acceptor_gain	1.0000
9:98311203:CGG:C	acceptor_gain	1.0000
9:98311203:CGGC:C	acceptor_gain	1.0000

AlphaMissense

6197 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:98306130:G:C	F740L	1.000
9:98306130:G:T	F740L	1.000
9:98306132:A:G	F740L	1.000
9:98306137:A:G	L738P	1.000
9:98306143:A:G	L736P	1.000
9:98306233:C:T	G706E	1.000
9:98306234:C:G	G706R	1.000
9:98306234:C:T	G706R	1.000
9:98306243:A:G	C703R	1.000
9:98306252:C:G	G700R	1.000
9:98306252:C:T	G700R	1.000
9:98306256:G:C	N698K	1.000
9:98306256:G:T	N698K	1.000
9:98306261:A:G	Y697H	1.000
9:98306263:A:T	V696D	1.000
9:98306265:A:C	S695R	1.000
9:98306265:A:T	S695R	1.000
9:98306267:T:G	S695R	1.000
9:98306272:C:T	G693E	1.000
9:98306273:C:A	G693W	1.000
9:98306283:G:C	S689R	1.000
9:98306283:G:T	S689R	1.000
9:98306284:C:A	S689I	1.000
9:98306285:T:G	S689R	1.000
9:98306287:T:A	D688V	1.000
9:98306287:T:C	D688G	1.000
9:98306287:T:G	D688A	1.000
9:98306288:C:A	D688Y	1.000
9:98306288:C:G	D688H	1.000
9:98306288:C:T	D688N	1.000

dbSNP variants (sampled 300 via entrez): RS1000004572 (9:98298272 C>A), RS1000014648 (9:98369411 G>A), RS1000015451 (9:98477522 G>A), RS1000027981 (9:98433820 G>A), RS1000030191 (9:98642673 T>G), RS1000032127 (9:98610707 T>C), RS1000035142 (9:98323244 A>C), RS1000036274 (9:98516733 C>G,T), RS1000061961 (9:98332035 C>G,T), RS1000062586 (9:98695485 C>A), RS1000063471 (9:98555282 A>G), RS1000064352 (9:98576015 G>A), RS1000070276 (9:98412900 G>A), RS1000086937 (9:98694111 C>A), RS1000105625 (9:98617412 G>A)

Disease associations

OMIM: gene MIM:607340 | disease phenotypes: MIM:617904, MIM:617903, MIM:188890, MIM:312750

GenCC curated gene-disease

Disease	Classification	Inheritance
developmental and epileptic encephalopathy, 59	Strong	Autosomal dominant
neurodevelopmental disorder with poor language and loss of hand skills	Strong	Autosomal dominant
atypical Rett syndrome	Supportive	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 (7): developmental and epileptic encephalopathy, 59 (MONDO:0033368), neurodevelopmental disorder with poor language and loss of hand skills (MONDO:0060659), tobacco addiction, susceptibility to (MONDO:0100460), intellectual disability (MONDO:0001071), autism spectrum disorder (MONDO:0005258), Rett syndrome (MONDO:0010726), atypical Rett syndrome (MONDO:0017746)

Orphanet (4): Atypical Rett syndrome (Orphanet:3095), Rett syndrome (Orphanet:778), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658), NON RARE IN EUROPE: Autism (Orphanet:106)

HPO phenotypes

114 total (30 of 114 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000252	Microcephaly
HP:0000256	Macrocephaly
HP:0000348	High forehead
HP:0000494	Downslanted palpebral fissures
HP:0000504	Abnormality of vision
HP:0000508	Ptosis
HP:0000546	Retinal degeneration
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000668	Hypodontia
HP:0000708	Atypical behavior
HP:0000713	Agitation
HP:0000717	Autism
HP:0000723	Restrictive behavior
HP:0000729	Autistic behavior
HP:0000748	Inappropriate laughter
HP:0000750	Delayed speech and language development
HP:0000817	Reduced eye contact
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001251	Ataxia
HP:0001252	Hypotonia
HP:0001256	Mild intellectual disability
HP:0001257	Spasticity
HP:0001263	Global developmental delay
HP:0001265	Hyporeflexia
HP:0001268	Mental deterioration
HP:0001273	Abnormal corpus callosum morphology
HP:0001288	Gait disturbance

GWAS associations

12 associations (top):

Study	Trait	p-value
GCST000483_7	Folate pathway vitamin levels	2.000000e-08
GCST002037_6	Post-traumatic stress disorder (asjusted for relatedness)	2.000000e-06
GCST002642_2	Response to simvastatin treatment (PCSK9 protein level change)	1.000000e-06
GCST003825_9	Systolic blood pressure change trajectory	5.000000e-07
GCST006168_7	Pulse pressure x alcohol consumption interaction (2df test)	1.000000e-09
GCST006609_3	Response to TNF inhibitor in rheumatoid arthritis (change in tender 28-joint count)	7.000000e-08
GCST007201_108	Schizophrenia	2.000000e-07
GCST007201_347	Schizophrenia	3.000000e-06
GCST008952_2	High chromosomal aberration frequency (chromatid type)	2.000000e-06
GCST009823_14	Gynecologic disease (multivariate analysis)	5.000000e-08
GCST012420_3	tricyclic pyrone compound response (IC50)	4.000000e-06
GCST012466_3	Autism spectrum disorder	3.000000e-06

EFO canonical traits (9, from GWAS)

EFO ID	Trait name
EFO:0004578	homocysteine measurement
EFO:0006899	PCSK9 protein measurement
EFO:0006944	systolic blood pressure change measurement
EFO:0004329	alcohol drinking
EFO:0005763	pulse pressure measurement
EFO:0004653	response to TNF antagonist
EFO:0005413	joint damage measurement
EFO:0009862	chromatid-type aberration frequency
EFO:0600033	response to mitochondrial complex I inhibitor

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D015518	Rett Syndrome	C10.597.606.360.455.937; C16.320.322.500.937; C16.320.400.525.937

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL2111463 (PROTEIN COMPLEX), CHEMBL5034 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

4 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 186,196 (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
CHEMBL701	BACLOFEN	4	25,446
CHEMBL301742	ARBACLOFEN	3	253
CHEMBL112797	SGS-742	2	309
CHEMBL96	GAMMA-AMINOBUTYRIC ACID	1	160,188

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

PharmGKB variants

2 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs2304389	GABBR2		0.00	0
rs2779562	GABBR2		0.00	0

GtoPdb / IUPHAR curated pharmacology

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

Target class: gpcr — GABA_B receptors

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

Ligand	Action	Affinity	Parameter
CGP7930	Positive	6.7	pEC50

Binding affinities (BindingDB)

6 measured of 8 human assays (8 total across all organisms); most potent 6 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value	Patent
5-[1-(4-chlorophenyl)ethyl]-7-(1H-indol-6-yl)-3-methyl-[1,2]oxazolo[4,5-d]pyridazin-4-one	EC50	347 nM	US-10556914: Substituted isoxazolopyridazinones and isothiazolopyridazinones and methods of use
5-[1-(4-chlorophenyl)ethyl]-3-methyl-7-(1H-pyrrolo[3,2-b]pyridin-6-yl)-[1,2]oxazolo[4,5-d]pyridazin-4-one	EC50	855 nM	US-10556914: Substituted isoxazolopyridazinones and isothiazolopyridazinones and methods of use
CHEMBL237582	EC50	2750 nM
CHEMBL401437	EC50	3470 nM
CHEMBL2322934	EC50	37800 nM
CHEMBL2322935	EC50	40000 nM

ChEMBL bioactivities

66 potent at pChembl≥5 of 81 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
9.70	IC50	0.2	nM	CHEMBL4763515
9.00	Kd	1	nM	CHEMBL1628548
8.92	IC50	1.2	nM	CHEMBL4791366
8.62	IC50	2.4	nM	CHEMBL4756657
8.62	IC50	2.4	nM	CHEMBL112203
8.31	IC50	4.9	nM	CHEMBL4787614
8.18	IC50	6.6	nM	CHEMBL112710
8.07	EC50	8.6	nM	CHEMBL3600560
7.89	IC50	13	nM	CHEMBL4847170
7.82	IC50	15	nM	ARBACLOFEN
7.75	IC50	18	nM	CHEMBL113453
7.73	IC50	18.6	nM	CHEMBL4745449
7.72	IC50	18.9	nM	CHEMBL4762233
7.68	IC50	21	nM	CHEMBL4856595
7.63	IC50	23.2	nM	CHEMBL4740566
7.60	IC50	25	nM	GAMMA-AMINOBUTYRIC ACID
7.54	IC50	29	nM	CHEMBL113304
7.46	IC50	35	nM	BACLOFEN
7.41	IC50	39	nM	CHEMBL430501
7.30	IC50	50	nM	BACLOFEN
7.19	EC50	64	nM	CHEMBL5207265
7.05	EC50	90	nM	CHEMBL5170235
7.01	EC50	97	nM	CHEMBL5185974
6.85	EC50	142	nM	CHEMBL5204436
6.78	IC50	166	nM	CHEMBL113396
6.70	IC50	200	nM	CHEMBL312675
6.70	EC50	199	nM	CHEMBL5169533
6.70	EC50	200	nM	CHEMBL112710
6.68	EC50	208	nM	CHEMBL5183971
6.55	IC50	280	nM	CHEMBL113217
6.53	EC50	294	nM	CHEMBL5187574
6.47	EC50	341	nM	CHEMBL5193733
6.44	IC50	360	nM	CHEMBL111378
6.38	EC50	419	nM	CHEMBL5188066
6.35	EC50	444	nM	CHEMBL5202253
6.30	EC50	496	nM	CHEMBL5186902
6.30	IC50	500	nM	CHEMBL113907
6.28	EC50	530	nM	GAMMA-AMINOBUTYRIC ACID
6.21	IC50	610	nM	4-AMINO-3- (5-CHLOROTHIEN-2-YL)BUTANOIC ACID
6.20	EC50	637	nM	CHEMBL5209256
6.13	EC50	741.3	nM	GS-39783
6.12	EC50	764	nM	CHEMBL2346820
6.11	EC50	771	nM	CHEMBL5209395
6.11	IC50	780	nM	CHEMBL111920
6.06	IC50	880	nM	CHEMBL109752
6.06	EC50	871	nM	CHEMBL393066
6.04	IC50	920	nM	CHEMBL111675
6.00	EC50	1000	nM	ARBACLOFEN
5.92	IC50	1200	nM	CHEMBL312675
5.92	EC50	1202	nM	CHEMBL391647

PubChem BioAssay actives

63 with measured affinity, of 274 total; 50 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
(4S)-5-[[(2S,3S)-1-[[(2R)-1-amino-1-oxo-3-sulfanylpropan-2-yl]amino]-3-methyl-1-oxopentan-2-yl]amino]-4-[[(2S)-1-[(2S)-2-[[(2S)-2-[[(2S)-2-[[(2S)-2-[[(2R)-2-[[(2S)-2-[[(2S)-1-[(2S)-2-[[(2S)-2-[[(2R)-2-[[(2R)-2-[(2-benzamidoacetyl)amino]-3-sulfanylpropanoyl]amino]-3-sulfanylpropanoyl]amino]-3-hydroxypropanoyl]amino]-3-carboxypropanoyl]pyrrolidine-2-carbonyl]amino]-5-carbamimidamidopentanoyl]amino]-3-sulfanylpropanoyl]amino]-5-carbamimidamidopentanoyl]amino]-3-(4-hydroxyphenyl)propanoyl]amino]-3-carboxypropanoyl]amino]-3-(1H-imidazol-5-yl)propanoyl]pyrrolidine-2-carbonyl]amino]-5-oxopentanoic acid	1687077: Activation of human GABAB1/GABAB2 expressed in HEK293 cells co-transfected with rat CaV2.2 channel assessed as reduction in CaV2.2-mediated peak-current amplitude in response to the depolarizing pulse by whole cell patch clamp assay	ic50	0.0002	uM
3-(1R)-1-[[(2S)-3-[5-[(4-azido-2-hydroxy-5-(125I)iodobenzoyl)amino]pentyl-hydroxyphosphoryl]-2-hydroxypropyl]amino]ethylbenzoic acid	1237980: Binding affinity to GABA-B receptor (unknown origin)	kd	0.0010	uM
(4S)-4-[[(2S)-1-[(2S)-2-[[(2S)-2-[[(2S)-2-[[(2S)-4-amino-2-[[(2R)-2-[[(2S)-2-[[(2S)-1-[(2S)-2-[[(2S)-2-[[(2R)-2-[[(2R)-2-[(2-benzamidoacetyl)amino]-3-sulfanylpropanoyl]amino]-3-sulfanylpropanoyl]amino]-3-hydroxypropanoyl]amino]-3-carboxypropanoyl]pyrrolidine-2-carbonyl]amino]-5-carbamimidamidopentanoyl]amino]-3-sulfanylpropanoyl]amino]-4-oxobutanoyl]amino]-3-(4-hydroxyphenyl)propanoyl]amino]-3-carboxypropanoyl]amino]-3-(1H-imidazol-5-yl)propanoyl]pyrrolidine-2-carbonyl]amino]-5-[[(2S,3S)-1-[[(2R)-1-amino-1-oxo-3-sulfanylpropan-2-yl]amino]-3-methyl-1-oxopentan-2-yl]amino]-5-oxopentanoic acid	1687077: Activation of human GABAB1/GABAB2 expressed in HEK293 cells co-transfected with rat CaV2.2 channel assessed as reduction in CaV2.2-mediated peak-current amplitude in response to the depolarizing pulse by whole cell patch clamp assay	ic50	0.0012	uM
(4S)-4-[[(2S)-1-[(2S)-2-[[(2S)-2-[[(2S)-2-[[(2S)-4-amino-2-[[(2R)-2-[[(2S)-2-[[(2S)-1-[(2S)-2-[[(2S)-2-[[(2R)-2-[[(2R)-2-[(2-aminoacetyl)amino]-3-sulfanylpropanoyl]amino]-3-sulfanylpropanoyl]amino]-3-hydroxypropanoyl]amino]-3-carboxypropanoyl]pyrrolidine-2-carbonyl]amino]-5-carbamimidamidopentanoyl]amino]-3-sulfanylpropanoyl]amino]-4-oxobutanoyl]amino]-3-(4-hydroxyphenyl)propanoyl]amino]-3-carboxypropanoyl]amino]-3-(1H-imidazol-5-yl)propanoyl]pyrrolidine-2-carbonyl]amino]-5-[[(2S,3S)-1-[[(2R)-1-amino-1-oxo-3-sulfanylpropan-2-yl]amino]-3-methyl-1-oxopentan-2-yl]amino]-5-oxopentanoic acid	1687077: Activation of human GABAB1/GABAB2 expressed in HEK293 cells co-transfected with rat CaV2.2 channel assessed as reduction in CaV2.2-mediated peak-current amplitude in response to the depolarizing pulse by whole cell patch clamp assay	ic50	0.0024	uM
3-aminopropyl-hydroxy-oxophosphanium	71258: Inhibition of [3H]-baclofen binding to Gamma-aminobutyric acid type B receptor of cat cerebellum	ic50	0.0024	uM
(4S)-4-[[(2S)-1-[(2S)-2-[[(2S)-2-[[(2S)-2-[[(2S)-2-[[(2R)-2-[[(2S)-2-[[(2S)-1-[(2S)-2-[[(2S)-2-[[(2R)-2-[[(2R)-2-[(2-aminoacetyl)amino]-3-sulfanylpropanoyl]amino]-3-sulfanylpropanoyl]amino]-3-hydroxypropanoyl]amino]-3-carboxypropanoyl]pyrrolidine-2-carbonyl]amino]-5-carbamimidamidopentanoyl]amino]-3-sulfanylpropanoyl]amino]-5-carbamimidamidopentanoyl]amino]-3-(4-hydroxyphenyl)propanoyl]amino]-3-carboxypropanoyl]amino]-3-(1H-imidazol-5-yl)propanoyl]pyrrolidine-2-carbonyl]amino]-5-[[(2S,3S)-1-[[(2R)-1-amino-1-oxo-3-sulfanylpropan-2-yl]amino]-3-methyl-1-oxopentan-2-yl]amino]-5-oxopentanoic acid	1687077: Activation of human GABAB1/GABAB2 expressed in HEK293 cells co-transfected with rat CaV2.2 channel assessed as reduction in CaV2.2-mediated peak-current amplitude in response to the depolarizing pulse by whole cell patch clamp assay	ic50	0.0049	uM
3-aminopropyl(methyl)phosphinic acid	71258: Inhibition of [3H]-baclofen binding to Gamma-aminobutyric acid type B receptor of cat cerebellum	ic50	0.0066	uM
[(2R)-3-amino-2-fluoropropyl]phosphonic acid	1237985: Agonist activity at human recombinant GABA-B receptor	ec50	0.0086	uM
3-[(1S,6R,9S,12S,15S,21S,24S,27S,30S,33S,36S,39S,45S,48S,53R)-53-[(2-aminoacetyl)amino]-30-(2-amino-2-oxoethyl)-9-[(2S)-butan-2-yl]-36-(3-carbamimidamidopropyl)-6-carbamoyl-24,45-bis(carboxymethyl)-48-(hydroxymethyl)-27-[(4-hydroxyphenyl)methyl]-21-(1H-imidazol-5-ylmethyl)-8,11,14,20,23,26,29,32,35,38,44,47,50,52-tetradecaoxo-3,4-dithia-7,10,13,19,22,25,28,31,34,37,43,46,49,51-tetradecazatetracyclo[31.17.7.015,19.039,43]heptapentacont-55-yn-12-yl]propanoic acid	1762195: Agonist activity at human GABAB expressed in HEK293T cells co-transfected with human CaV2.2 channel assessed as inhibition of CaV2.2-mediated Ba2+ peak-current amplitude at -80 to 10 mV holding potential after 72 hrs by whole cell patch clamp assay	ic50	0.0130	uM
(3R)-4-amino-3-(4-chlorophenyl)butanoic acid	71258: Inhibition of [3H]-baclofen binding to Gamma-aminobutyric acid type B receptor of cat cerebellum	ic50	0.0150	uM
(3-amino-2-hydroxypropyl)-hydroxy-oxophosphanium	71258: Inhibition of [3H]-baclofen binding to Gamma-aminobutyric acid type B receptor of cat cerebellum	ic50	0.0180	uM
(4S)-4-[[(2S)-1-[(2S)-2-[[(2S)-2-[[(2S)-2-[[(2S)-2-[[(2R)-2-[[(2S)-2-[[(2S)-1-[(2S)-2-[[(2S)-2-[[(2R)-2-[[(2R)-2-[(2-aminoacetyl)amino]-3-sulfanylpropanoyl]amino]-3-sulfanylpropanoyl]amino]-3-hydroxypropanoyl]amino]-3-carboxypropanoyl]pyrrolidine-2-carbonyl]amino]-5-carbamimidamidopentanoyl]amino]-3-sulfanylpropanoyl]amino]-5-carbamimidamidopentanoyl]amino]-3-(4-hydroxyphenyl)propanoyl]amino]-3-hydroxypropanoyl]amino]-3-(1H-imidazol-5-yl)propanoyl]pyrrolidine-2-carbonyl]amino]-5-[[(2S,3S)-1-[[(2R)-1-amino-1-oxo-3-sulfanylpropan-2-yl]amino]-3-methyl-1-oxopentan-2-yl]amino]-5-oxopentanoic acid	1687077: Activation of human GABAB1/GABAB2 expressed in HEK293 cells co-transfected with rat CaV2.2 channel assessed as reduction in CaV2.2-mediated peak-current amplitude in response to the depolarizing pulse by whole cell patch clamp assay	ic50	0.0186	uM
(4S)-4-[[(2S)-1-[(2S)-2-[[(2S)-2-[[(2S)-2-[[(2S)-2-[[(2R)-2-[[(2S)-2-[[(2S)-1-[(2S)-2-[[(2S)-2-[[(2R)-2-[[(2R)-2-[(2-acetamidoacetyl)amino]-3-sulfanylpropanoyl]amino]-3-sulfanylpropanoyl]amino]-3-hydroxypropanoyl]amino]-3-carboxypropanoyl]pyrrolidine-2-carbonyl]amino]-5-carbamimidamidopentanoyl]amino]-3-sulfanylpropanoyl]amino]-5-carbamimidamidopentanoyl]amino]-3-(4-hydroxyphenyl)propanoyl]amino]-3-carboxypropanoyl]amino]-3-(1H-imidazol-5-yl)propanoyl]pyrrolidine-2-carbonyl]amino]-5-[[(2S,3S)-1-[[(2R)-1-amino-1-oxo-3-sulfanylpropan-2-yl]amino]-3-methyl-1-oxopentan-2-yl]amino]-5-oxopentanoic acid	1687077: Activation of human GABAB1/GABAB2 expressed in HEK293 cells co-transfected with rat CaV2.2 channel assessed as reduction in CaV2.2-mediated peak-current amplitude in response to the depolarizing pulse by whole cell patch clamp assay	ic50	0.0189	uM
3-[(1R,4S,7S,10S,13S,19S,22S,25S,28R,33R,36R,39S,42S,48S,51S)-33-[(2-aminoacetyl)amino]-4-(2-amino-2-oxoethyl)-25-[(2S)-butan-2-yl]-51-(3-carbamimidamidopropyl)-28-carbamoyl-10,42-bis(carboxymethyl)-39-(hydroxymethyl)-7-[(4-hydroxyphenyl)methyl]-13-(1H-imidazol-5-ylmethyl)-2,5,8,11,14,20,23,26,34,37,40,43,49,52-tetradecaoxo-30,31,55,56-tetrathia-3,6,9,12,15,21,24,27,35,38,41,44,50,53-tetradecazatetracyclo[34.17.4.015,19.044,48]heptapentacontan-22-yl]propanoic acid	1762195: Agonist activity at human GABAB expressed in HEK293T cells co-transfected with human CaV2.2 channel assessed as inhibition of CaV2.2-mediated Ba2+ peak-current amplitude at -80 to 10 mV holding potential after 72 hrs by whole cell patch clamp assay	ic50	0.0210	uM
(4S)-5-[[(2S,3S)-1-[[(2R)-1-amino-1-oxo-3-sulfanylpropan-2-yl]amino]-3-methyl-1-oxopentan-2-yl]amino]-4-[[(2S)-1-[(2S)-2-[[(2S)-2-[[(2S)-2-[[(2S)-2-[[(2R)-2-[[(2S)-2-[[(2S)-1-[(2S)-2-[[(2S)-2-[[(2R)-2-[[(2R)-2-amino-3-sulfanylpropanoyl]amino]-3-sulfanylpropanoyl]amino]-3-hydroxypropanoyl]amino]-3-carboxypropanoyl]pyrrolidine-2-carbonyl]amino]-5-carbamimidamidopentanoyl]amino]-3-sulfanylpropanoyl]amino]-5-carbamimidamidopentanoyl]amino]-3-(4-hydroxyphenyl)propanoyl]amino]-3-carboxypropanoyl]amino]-3-(1H-imidazol-5-yl)propanoyl]pyrrolidine-2-carbonyl]amino]-5-oxopentanoic acid	1687077: Activation of human GABAB1/GABAB2 expressed in HEK293 cells co-transfected with rat CaV2.2 channel assessed as reduction in CaV2.2-mediated peak-current amplitude in response to the depolarizing pulse by whole cell patch clamp assay	ic50	0.0232	uM
.gamma.-aminobutyric acid	71258: Inhibition of [3H]-baclofen binding to Gamma-aminobutyric acid type B receptor of cat cerebellum	ic50	0.0250	uM
(3-amino-2-hydroxypropyl)-methylphosphinic acid	71256: Inhibition of [3H]CGP-27492 binding to cat Gamma-aminobutyric acid type B receptor	ic50	0.0290	uM
Baclofen	71258: Inhibition of [3H]-baclofen binding to Gamma-aminobutyric acid type B receptor of cat cerebellum	ic50	0.0350	uM
[3-amino-2-(4-chlorophenyl)propyl]-hydroxy-oxophosphanium	71257: Inhibition of [3H]baclofen binding to Gamma-aminobutyric acid type B receptor of cat cerebellum	ic50	0.0390	uM
N-[(1R,2R,4S)-2-bicyclo[2.2.1]heptanyl]-2-chloro-6-(3,5-dichlorophenyl)quinazolin-4-amine	1867062: Positive allosteric modulation of GABA-B receptor (unknown origin) assessed as stimulation of [35S]GTPgammaS binding by [35S]GTPgammaS binding assay	ec50	0.0640	uM
N-[(1R,2R,4S)-2-bicyclo[2.2.1]heptanyl]-2-chloro-6-[3-(trifluoromethyl)phenyl]quinazolin-4-amine	1867062: Positive allosteric modulation of GABA-B receptor (unknown origin) assessed as stimulation of [35S]GTPgammaS binding by [35S]GTPgammaS binding assay	ec50	0.0900	uM
N-[(1R,2R,4S)-2-bicyclo[2.2.1]heptanyl]-6-(3,5-dichlorophenyl)-2-methylquinazolin-4-amine	1867062: Positive allosteric modulation of GABA-B receptor (unknown origin) assessed as stimulation of [35S]GTPgammaS binding by [35S]GTPgammaS binding assay	ec50	0.0970	uM
N-[(1R,2R,4S)-2-bicyclo[2.2.1]heptanyl]-2-methyl-6-[3-(trifluoromethyl)phenyl]quinazolin-4-amine	1867062: Positive allosteric modulation of GABA-B receptor (unknown origin) assessed as stimulation of [35S]GTPgammaS binding by [35S]GTPgammaS binding assay	ec50	0.1420	uM
4-aminobutan-2-yl(methyl)phosphinic acid	71256: Inhibition of [3H]CGP-27492 binding to cat Gamma-aminobutyric acid type B receptor	ic50	0.1660	uM
N-[(1R,2R,4S)-2-bicyclo[2.2.1]heptanyl]-6-(3-chlorophenyl)-2-methylquinazolin-4-amine	1867062: Positive allosteric modulation of GABA-B receptor (unknown origin) assessed as stimulation of [35S]GTPgammaS binding by [35S]GTPgammaS binding assay	ec50	0.1990	uM
N-[(1R,2R,4S)-2-bicyclo[2.2.1]heptanyl]-2-chloro-6-(4-chlorophenyl)quinazolin-4-amine	1867062: Positive allosteric modulation of GABA-B receptor (unknown origin) assessed as stimulation of [35S]GTPgammaS binding by [35S]GTPgammaS binding assay	ec50	0.2080	uM
[(E)-3-aminoprop-1-enyl]-hydroxy-oxophosphanium	71258: Inhibition of [3H]-baclofen binding to Gamma-aminobutyric acid type B receptor of cat cerebellum	ic50	0.2800	uM
N-[(1R,2R,4S)-2-bicyclo[2.2.1]heptanyl]-2-chloro-6-(4-fluorophenyl)quinazolin-4-amine	1867062: Positive allosteric modulation of GABA-B receptor (unknown origin) assessed as stimulation of [35S]GTPgammaS binding by [35S]GTPgammaS binding assay	ec50	0.2940	uM
N-[(1R,2R,4S)-2-bicyclo[2.2.1]heptanyl]-2-chloro-6-(3,4-dichlorophenyl)quinazolin-4-amine	1867062: Positive allosteric modulation of GABA-B receptor (unknown origin) assessed as stimulation of [35S]GTPgammaS binding by [35S]GTPgammaS binding assay	ec50	0.3410	uM
[3-amino-2-(4-fluorophenyl)propyl]-hydroxy-oxophosphanium	71257: Inhibition of [3H]baclofen binding to Gamma-aminobutyric acid type B receptor of cat cerebellum	ic50	0.3600	uM
N-[(1R,2R,4S)-2-bicyclo[2.2.1]heptanyl]-6-(3,4-dichlorophenyl)-2-methylquinazolin-4-amine	1867062: Positive allosteric modulation of GABA-B receptor (unknown origin) assessed as stimulation of [35S]GTPgammaS binding by [35S]GTPgammaS binding assay	ec50	0.4190	uM
N-[(1R,2R,4S)-2-bicyclo[2.2.1]heptanyl]-6-(4-chlorophenyl)-2-methylquinazolin-4-amine	1867062: Positive allosteric modulation of GABA-B receptor (unknown origin) assessed as stimulation of [35S]GTPgammaS binding by [35S]GTPgammaS binding assay	ec50	0.4440	uM
N-[(1R,2R,4S)-2-bicyclo[2.2.1]heptanyl]-6-(2-chlorophenyl)-2-methylquinazolin-4-amine	1867062: Positive allosteric modulation of GABA-B receptor (unknown origin) assessed as stimulation of [35S]GTPgammaS binding by [35S]GTPgammaS binding assay	ec50	0.4960	uM
3-aminobutyl-hydroxy-oxophosphanium	71258: Inhibition of [3H]-baclofen binding to Gamma-aminobutyric acid type B receptor of cat cerebellum	ic50	0.5000	uM
4-amino-3-(5-chlorothiophen-2-yl)butanoic acid	1237980: Binding affinity to GABA-B receptor (unknown origin)	ic50	0.6100	uM
N-[(1R,2R,4S)-2-bicyclo[2.2.1]heptanyl]-2-chloro-6-[4-(trifluoromethyl)phenyl]quinazolin-4-amine	1867062: Positive allosteric modulation of GABA-B receptor (unknown origin) assessed as stimulation of [35S]GTPgammaS binding by [35S]GTPgammaS binding assay	ec50	0.6370	uM
4-N,6-N-dicyclopentyl-2-methylsulfanyl-5-nitropyrimidine-4,6-diamine	301941: Activity at GABAB 1b/2 receptor expressed in CHO-K1 cells assessed as effect on glutamate-induced [35S]GTP-gamma-S binding	ec50	0.7413	uM
N-[(1R,2R,4S)-2-bicyclo[2.2.1]heptanyl]-2-methyl-5-[4-(trifluoromethyl)phenyl]pyrimidin-4-amine	1867062: Positive allosteric modulation of GABA-B receptor (unknown origin) assessed as stimulation of [35S]GTPgammaS binding by [35S]GTPgammaS binding assay	ec50	0.7640	uM
N-[(1R,2R,4S)-2-bicyclo[2.2.1]heptanyl]-2-methyl-6-[4-(trifluoromethyl)phenyl]quinazolin-4-amine	1867062: Positive allosteric modulation of GABA-B receptor (unknown origin) assessed as stimulation of [35S]GTPgammaS binding by [35S]GTPgammaS binding assay	ec50	0.7710	uM
(3-amino-2-methylpropyl)-hydroxy-oxophosphanium	71258: Inhibition of [3H]-baclofen binding to Gamma-aminobutyric acid type B receptor of cat cerebellum	ic50	0.7800	uM
N-cyclohexyl-2-methyl-5-[4-(trifluoromethyl)phenyl]pyrimidin-4-amine	301941: Activity at GABAB 1b/2 receptor expressed in CHO-K1 cells assessed as effect on glutamate-induced [35S]GTP-gamma-S binding	ec50	0.8710	uM
(3-amino-2-phenylpropyl)-hydroxy-oxophosphanium	71257: Inhibition of [3H]baclofen binding to Gamma-aminobutyric acid type B receptor of cat cerebellum	ic50	0.8800	uM
4-aminobutan-2-yl-hydroxy-oxophosphanium	71258: Inhibition of [3H]-baclofen binding to Gamma-aminobutyric acid type B receptor of cat cerebellum	ic50	0.9200	uM
4-[[(1S,2R,4R)-2-bicyclo[2.2.1]heptanyl]amino]-5-[4-(trifluoromethyl)phenyl]pyrimidine-2-carbonitrile	301941: Activity at GABAB 1b/2 receptor expressed in CHO-K1 cells assessed as effect on glutamate-induced [35S]GTP-gamma-S binding	ec50	1.2023	uM
3-aminopropyl(ethyl)phosphinic acid	71258: Inhibition of [3H]-baclofen binding to Gamma-aminobutyric acid type B receptor of cat cerebellum	ic50	1.3500	uM
N-[(1S,2R,4R)-2-bicyclo[2.2.1]heptanyl]-2-methyl-5-[4-(trifluoromethyl)phenyl]pyrimidin-4-amine	301941: Activity at GABAB 1b/2 receptor expressed in CHO-K1 cells assessed as effect on glutamate-induced [35S]GTP-gamma-S binding	ec50	1.6596	uM
N-cycloheptyl-2-methyl-5-[4-(trifluoromethyl)phenyl]pyrimidin-4-amine	301941: Activity at GABAB 1b/2 receptor expressed in CHO-K1 cells assessed as effect on glutamate-induced [35S]GTP-gamma-S binding	ec50	1.6596	uM
4-N-[(1S,2R,4R)-2-bicyclo[2.2.1]heptanyl]-2-N,2-N-dimethyl-5-[4-(trifluoromethyl)phenyl]pyrimidine-2,4-diamine	301941: Activity at GABAB 1b/2 receptor expressed in CHO-K1 cells assessed as effect on glutamate-induced [35S]GTP-gamma-S binding	ec50	1.6596	uM
(3S)-4-amino-3-(4-chlorophenyl)butanoic acid	71258: Inhibition of [3H]-baclofen binding to Gamma-aminobutyric acid type B receptor of cat cerebellum	ic50	1.7700	uM
5,7-ditert-butyl-3-hydroxy-3-(trifluoromethyl)-1-benzofuran-2-one	729173: Agonist activity at human GABA-B B1/B2 receptor expressed in HEK293 cells assessed as inhibition of forskolin-stimulated cAMP accumulation after 3 hrs by luciferase reporter gene assay	ec50	1.9000	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, affects expression, affects cotreatment	6
bisphenol A	decreases methylation, decreases expression	5
Estradiol	affects expression, affects cotreatment, increases expression, increases reaction	5
sodium arsenite	affects methylation, increases expression	3
gamma-Aminobutyric Acid	affects cotreatment, affects reaction, increases activity, affects binding, increases reaction (+1 more)	3
entinostat	increases expression, affects cotreatment	2
Formaldehyde	increases expression, decreases expression	2
Tetrachlorodibenzodioxin	affects cotreatment, increases expression	2
Tretinoin	increases expression	2
propionaldehyde	increases expression	1
quercitrin	increases expression	1
1-(3-chlorophenyl)piperazine	affects cotreatment, affects reaction, increases activity	1
cobaltous chloride	decreases expression	1
butyraldehyde	increases expression	1
manganese chloride	increases abundance, increases expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, decreases expression	1
pentanal	increases expression	1
3-aminopropylphosphinic acid	increases activity, increases reaction, affects binding	1
CGP 55845A	affects binding, decreases reaction, increases activity, increases reaction, decreases activity	1
CGP 52608	affects binding, increases reaction	1
CGP 71872	affects binding, decreases reaction, increases activity	1
methylone	affects cotreatment, decreases reaction, increases activity	1
2,6-di-tert-butyl-4-(3-hydroxy-2,2-dimethylpropyl)phenol	affects binding, increases activity, increases reaction, decreases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment	1
bisphenol B	decreases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	decreases expression, decreases reaction	1
dorsomorphin	affects cotreatment, increases expression	1
bisphenol Z	decreases expression	1

ChEMBL screening assays

57 unique, capped per target: 35 binding, 21 functional, 1 admet

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1679957	Functional	Antagonist activity at human recombinant GABAb 1b/2 receptor expressed in Xenopus laevis oocytes co-expressing GIRK1/4 assessed as inhibition of GABA-induced current by two electrode voltage clamp technique	Novel Cyclic Phosphinic Acids as GABAC ρ Receptor Antagonists: Design, Synthesis, and Pharmacology. — ACS Med Chem Lett
CHEMBL2401236	Binding	Antagonist activity at human recombinant GABAB1b2 receptor expressed in Xenopus laevis assessed as inhibition of GABA-induced chloride current production at 300 uM after 2 to 5 days by two-electrode voltage-clamp electrophysiological assay	Γ-aminobutyric acid(C) (GABAC) selective antagonists derived from the bioisosteric modification of 4-aminocyclopent-1-enecarboxylic acid: amides and hydroxamates. — J Med Chem
CHEMBL4810231	ADMET	Inhibition of GABA-B receptor (unknown origin) at 0.1 to 1 uM	Discovery of Pemigatinib: A Potent and Selective Fibroblast Growth Factor Receptor (FGFR) Inhibitor. — J Med Chem

Cellosaurus cell lines

1 cell lines: 1 spontaneously immortalized cell line

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

Cellosaurus	Name	Category	Sex
CVCL_LC01	CHO-K1 h-GABA-b R1a/R2	Spontaneously immortalized cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
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
NCT00391261	PHASE4	COMPLETED	An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications.
NCT01028820	PHASE4	COMPLETED	FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders
NCT01333865	PHASE4	COMPLETED	A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders
NCT01337700	PHASE4	COMPLETED	Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism
NCT01695200	PHASE4	COMPLETED	Omega-3 Fatty Acids in Autism Spectrum Disorders
NCT02096952	PHASE4	COMPLETED	Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD
NCT02235467	PHASE4	COMPLETED	Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism
NCT02940574	PHASE4	COMPLETED	Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders
NCT03333629	PHASE4	COMPLETED	Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes
NCT03337646	PHASE4	COMPLETED	Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism
NCT03538431	PHASE4	COMPLETED	Improving Driving in Young People With Autism Spectrum Disorders
NCT03757585	PHASE4	COMPLETED	Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD)
NCT04903353	PHASE4	COMPLETED	Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole
NCT05063656	PHASE4	COMPLETED	Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin
NCT05146245	PHASE4	UNKNOWN	Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT
NCT05916339	PHASE4	RECRUITING	AWARE: Management of ADHD in Autism Spectrum Disorder
NCT05954052	PHASE4	TERMINATED	A Study of Glutathione in Children With Autism Spectrum Disorder
NCT06853665	PHASE4	RECRUITING	The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine
NCT07054697	PHASE4	COMPLETED	Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder
NCT07161804	PHASE4	COMPLETED	Pilot RCT Using Homeopathic Medicines in ASD
NCT07439042	PHASE4	NOT_YET_RECRUITING	Buspirone for Anxiety in Autistic Youth
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
NCT01302964	PHASE3	COMPLETED	Mirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders
NCT01706523	PHASE3	TERMINATED	Open Label Extension Study of STX209 (Arbaclofen) in Autism Spectrum Disorders
NCT01825798	PHASE3	COMPLETED	Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD)
NCT01972074	PHASE3	COMPLETED	Behavioral and Neural Response to Memantine in Adolescents With Autism Spectrum Disorder
NCT02985749	PHASE3	COMPLETED	A Study of Oxytocin for the Treatment of Social Impairment in Individuals With High Functioning Autism Spectrum Disorder
NCT03197922	PHASE3	COMPLETED	Treatment of Encopresis in Children With Autism Spectrum Disorders
NCT03504917	PHASE3	TERMINATED	A Study of Balovaptan in Adults With Autism Spectrum Disorder With a 2-Year Open-Label Extension
NCT03553875	PHASE3	TERMINATED	Memantine for the Treatment of Social Deficits in Youth With Disorders of Impaired Social Interactions
NCT03640156	PHASE3	COMPLETED	Modulating Socially Adaptive Mirror System Functioning in Autism by Oxytocin
NCT03715153	PHASE3	TERMINATED	Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children Aged From 2 to Less Than 7 Years Old With Autism Spectrum Disorder.
NCT03715166	PHASE3	TERMINATED	Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children and Adolescents Aged From 7 to Less Than 18 Years Old With Autism Spectrum Disorder
NCT04233502	PHASE3	WITHDRAWN	Efficacy and Safety of Slenyto for Insomnia in Children With ASD
NCT04578756	PHASE3	COMPLETED	Open-Label, Flexible-dose Study to Evaluate the Long-Term Safety and Tolerability of Cariprazine in the Treatment of Pediatric Participants With Schizophrenia, Bipolar I Disorder, or Autism Spectrum Disorder
NCT04623398	PHASE3	COMPLETED	Effect of Lithium in Patients With Autism Spectrum Disorder and Phelan-McDermid Syndrome (SHANK3 Haploinsufficiency)