GABRB1

Summary

GABRB1 (gamma-aminobutyric acid type A receptor subunit beta1, HGNC:4081) is a protein-coding gene on chromosome 4p12, encoding Gamma-aminobutyric acid receptor subunit beta-1 (P18505). Beta subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain.

The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 1 subunit. It is mapped to chromosome 4p12 in a cluster comprised of genes encoding alpha 4, alpha 2 and gamma 1 subunits of the GABA A receptor. Alteration of this gene is implicated in the pathogenetics of schizophrenia.

Source: NCBI Gene 2560 — RefSeq curated summary.

At a glance

• Gene–disease (curated): developmental and epileptic encephalopathy, 45 (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 10
• Clinical variants (ClinVar): 446 total — 1 pathogenic, 4 likely-pathogenic
• Phenotypes (HPO): 11
• Druggable target: yes — 18 molecules with ChEMBL bioactivity
• MANE Select transcript: NM_000812

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4081
Approved symbol	GABRB1
Name	gamma-aminobutyric acid type A receptor subunit beta1
Location	4p12
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000163288
Ensembl biotype	protein_coding
OMIM	137190
Entrez	2560

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 2 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000295454, ENST00000381582, ENST00000509366, ENST00000510909, ENST00000513567

RefSeq mRNA: 1 — MANE Select: NM_000812 NM_000812

CCDS: CCDS3474

Canonical transcript exons

ENST00000295454 — 9 exons

Exon	Start	End
ENSE00001073035	47406682	47406926
ENSE00001073036	47403318	47403455
ENSE00001256142	47425674	47426447
ENSE00001256151	47031567	47031731
ENSE00001699775	47403559	47403711
ENSE00003529257	47161249	47161469
ENSE00003545793	47320127	47320209
ENSE00003661430	47032417	47032484
ENSE00003667582	47031914	47032005

Expression profiles

Bgee: expression breadth ubiquitous, 172 present calls, max score 98.83.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 4.4617 / max 645.9126, expressed in 177 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
47545	3.1164	155
47546	0.7927	108
47543	0.1360	66
47540	0.1252	54
47542	0.1159	53
47544	0.1124	64
47541	0.0631	43

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
Brodmann (1909) area 23	UBERON:0013554	98.83	gold quality
middle temporal gyrus	UBERON:0002771	98.63	gold quality
entorhinal cortex	UBERON:0002728	98.47	gold quality
substantia nigra pars reticulata	UBERON:0001966	96.47	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	96.46	gold quality
parietal lobe	UBERON:0001872	96.34	gold quality
endothelial cell	CL:0000115	96.33	gold quality
postcentral gyrus	UBERON:0002581	96.22	gold quality
CA1 field of hippocampus	UBERON:0003881	96.15	gold quality
substantia nigra pars compacta	UBERON:0001965	95.48	gold quality
Brodmann (1909) area 46	UBERON:0006483	95.22	gold quality
lateral globus pallidus	UBERON:0002476	95.15	gold quality
Brodmann (1909) area 10	UBERON:0013541	94.78	gold quality
ventral tegmental area	UBERON:0002691	94.29	gold quality
superior frontal gyrus	UBERON:0002661	94.28	gold quality
superior vestibular nucleus	UBERON:0007227	94.14	gold quality
frontal pole	UBERON:0002795	94.10	gold quality
middle frontal gyrus	UBERON:0002702	93.32	gold quality
orbitofrontal cortex	UBERON:0004167	93.16	gold quality
medulla oblongata	UBERON:0001896	92.95	gold quality
inferior olivary complex	UBERON:0002127	91.06	gold quality
pons	UBERON:0000988	90.83	gold quality
buccal mucosa cell	CL:0002336	89.91	gold quality
occipital lobe	UBERON:0002021	87.32	gold quality
temporal lobe	UBERON:0001871	86.86	gold quality
corpus callosum	UBERON:0002336	85.85	gold quality
cerebellar vermis	UBERON:0004720	85.76	gold quality
primary visual cortex	UBERON:0002436	84.51	gold quality
paraflocculus	UBERON:0005351	84.39	gold quality
globus pallidus	UBERON:0001875	83.13	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-HCAD-35	yes	78.43
E-GEOD-84465	yes	12.08
E-HCAD-25	yes	7.37
E-ANND-3	yes	4.07

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

64 targeting GABRB1, 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-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-432-3P	100.00	67.86	705
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-3148	99.97	75.06	6478
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-96-5P	99.95	72.80	2140
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-1271-5P	99.91	71.99	1972
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-182-5P	99.87	74.03	2589
HSA-MIR-579-3P	99.86	71.66	3628
HSA-MIR-8067	99.86	69.59	2260
HSA-MIR-548AR-3P	99.85	71.26	3889
HSA-MIR-664B-3P	99.84	71.65	3590
HSA-MIR-5010-3P	99.83	70.60	2357
HSA-MIR-548AZ-3P	99.82	70.56	3549

Literature-anchored findings (GeneRIF, showing 20)

• linkage disequilibrium between beta frequency of EEG and a set of GABA(A) receptor genes (PMID:11891318)
• A signal for GABA A beta 1 isoform mRNA transcript could not be detected in the competitive RT-PCR assay. (PMID:15337300)
• These results confirmed our earlier findings, indicating GABRA4 and GABRB1 as genes contributing to autism susceptibility, extending the effect to multiple ethnic groups and suggesting seizures as a stratifying phenotype. (PMID:16770606)
• histamine modulates heteromultimeric GABA(A) receptors and may thus represent an endogenous ligand for an allosteric site (PMID:18281286)
• three distinct sets of amino acid residues in the N-terminal extracellular domain of the hbeta1 subunit, which when mutated to the homologous residue in hbeta3 allow expression as a functional homomeric receptor (PMID:18650446)
• Gaba (A) beta1 and beta3 subunit mRNA levels in the dorsolateral prefrontal cortex are not altered in schizophrenia. (PMID:20843900)
• Gaba-A receptor subunit beta1 is not involved in amygdala hyperexcitability of patients with temporal lobe epilepsy. (PMID:20848605)
• Data indicate the selectivity of some selected compounds were assessed in recombinant alpha(1)beta(2)gamma(2)L, alpha(2)beta(1)gamma(2)L, and alpha(5)beta(2)gamma(2)L GABA(A) receptors. (PMID:21751815)
• In cases of tramadol-induced death, the expression of GABA(A)alpha1 and GABA(B)1 significantly increased in the medulla oblongata solitary nucleus and ambiguous nucleus. (PMID:22393585)
• These results suggest that epigenetic control of gene expression may affect the expression of GABRB1 and disrupt inhibitory synaptic transmission during embryonic development. (PMID:23392927)
• This study demonstrates altered patterns of N-glycosylation of GABRB1 in the temporal lobe in schizophrenia. (PMID:23917429)
• GABRB1 protein levels were significantly decreased in schizophrenia, major depressive disorder, and bipolar disorder patients’ lateral cerebellum compared to controls. (PMID:24022508)
• study provides the first evidence for the involvement of the GABRB1 gene in the thalamus structure and their interactive effects on intelligence (PMID:25192656)
• Both mRNA and protein of GABAB receptor subunits, GABAB1 and GABAB2, were co-expressed in cultured human RPE cells; GABAB receptors regulate the [Ca2+]i via a pertussis toxin-sensitive Gi/o-protein pathway and a phospholipase C pathway (PMID:25241062)
• PCDHB14- and GABRB1-like nervous system developmental genes are altered during early neuronal differentiation of NCCIT cells treated with ethanol (PMID:25566775)
• This study showed that in male group the expression of GABRB1 was generally lower in schizophrenia cases compared to the control, but was higher in female group. (PMID:25660468)
• No allelic association was detected in this study between tested SNPs and risk for developing alcohol dependence in a British and Irish population; however, modest genotypic associations were found with several intronic GABRbeta1 SNPs that may directly influence alcohol dependence risk or may be in linkage disequilibrium with causal risk variants in nearby genes, including other GABA receptor subunits (PMID:28346242)
• Results from genome-wide DNA methylation, functional network analysis and pyrosequencing, show selective CpG sites (NOS1AP, BID, and GABRB1) differentially methylated in smokers and chronic obstructive pulmonary disease patients compared to nonsmokers. (PMID:28416970)
• MiRNA-384-5p Targets GABRB1 to Regulate Ketamine-Induced Neurotoxicity in Neurons. (PMID:35416273)
• Epileptic Encephalopathy GABRB Structural Variants Share Common Gating and Trafficking Defects. (PMID:38136660)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Gabrb1	ENSMUSG00000029212
rattus_norvegicus	Gabrb1	ENSRNOG00000002327

Paralogs (45): GABRA3 (ENSG00000011677), GABRA1 (ENSG00000022355), CHRNA3 (ENSG00000080644), GABRP (ENSG00000094755), CHRNA4 (ENSG00000101204), GLRA2 (ENSG00000101958), GABRE (ENSG00000102287), CHRNE (ENSG00000108556), GABRA4 (ENSG00000109158), GLRB (ENSG00000109738), GABRR2 (ENSG00000111886), GABRG2 (ENSG00000113327), CHRNB4 (ENSG00000117971), CHRNA2 (ENSG00000120903), CHRNA10 (ENSG00000129749), CHRND (ENSG00000135902), CHRNA1 (ENSG00000138435), GLRA3 (ENSG00000145451), GABRA6 (ENSG00000145863), GABRB2 (ENSG00000145864), GLRA1 (ENSG00000145888), GABRR1 (ENSG00000146276), CHRNB3 (ENSG00000147432), CHRNA6 (ENSG00000147434), HTR3B (ENSG00000149305), GABRA2 (ENSG00000151834), CHRNB2 (ENSG00000160716), GABRG1 (ENSG00000163285), GABRB3 (ENSG00000166206), CHRFAM7A (ENSG00000166664), HTR3A (ENSG00000166736), CHRNA5 (ENSG00000169684), CHRNB1 (ENSG00000170175), CHRNA9 (ENSG00000174343), CHRNA7 (ENSG00000175344), HTR3C (ENSG00000178084), GABRG3 (ENSG00000182256), GABRR3 (ENSG00000183185), HTR3E (ENSG00000186038), HTR3D (ENSG00000186090)

Protein

Protein identifiers

Gamma-aminobutyric acid receptor subunit beta-1 — P18505 (reviewed: P18505)

Alternative names: GABA(A) receptor subunit beta-1

All UniProt accessions (3): D6REM0, P18505, X5DNL6

UniProt curated annotations — full annotation on UniProt →

Function. Beta subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain. GABA-gated chloride channels, also named GABA(A) receptors (GABAAR), consist of five subunits arranged around a central pore and contain one or two GABA active binding sites located at the alpha and beta subunit interfaces, depending on subunit composition. When activated by GABA, GABAARs selectively allow the flow of chloride anions across the cell membrane down their electrochemical gradient. Chloride influx into the postsynaptic neuron following GABAAR opening decreases the neuron ability to generate a new action potential, thereby reducing nerve transmission. Beta-containing GABAARs can simultaneously bind GABA and histamine where histamine binds at the interface of two neighboring beta subunits, which may be involved in the regulation of sleep and wakefulness.

Subunit / interactions. Heteropentamer, formed by a combination of alpha (GABRA1-6), beta (GABRB1-3), gamma (GABRG1-3), delta (GABRD), epsilon (GABRE), rho (GABRR1-3), pi (GABRP) and theta (GABRQ) chains, each subunit exhibiting distinct physiological and pharmacological properties. Binds UBQLN1.

Subcellular location. Postsynaptic cell membrane. Cell membrane.

Disease relevance. Developmental and epileptic encephalopathy 45 (DEE45) [MIM:617153] 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. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. Potentiated by etomidate, propofol, pregnanolone and flurazepam. Potentiated by histamine.

Domain organisation. GABAARs subunits share a common topological structure: a peptide sequence made up of a long extracellular N-terminal, four transmembrane domains, intracellular or cytoplasmic domain located between the third and the fourth transmembrane domains.

Similarity. Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRB1 sub-subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
P18505-1	1	yes
P18505-2	2, B

RefSeq proteins (1): NP_000803* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002289	GABAAb_rcpt	Family
IPR006028	GABAA/Glycine_rcpt	Family
IPR006029	Neurotrans-gated_channel_TM	Domain
IPR006201	Neur_channel	Family
IPR006202	Neur_chan_lig-bd	Domain
IPR018000	Neurotransmitter_ion_chnl_CS	Conserved_site
IPR036719	Neuro-gated_channel_TM_sf	Homologous_superfamily
IPR036734	Neur_chan_lig-bd_sf	Homologous_superfamily
IPR038050	Neuro_actylchol_rec	Homologous_superfamily

Pfam: PF02931, PF02932

Catalyzed reactions (Rhea), 1 shown:

• chloride(in) = chloride(out) (RHEA:29823)

UniProt features (54 total): strand 16, helix 12, binding site 5, sequence variant 4, transmembrane region 4, glycosylation site 2, splice variant 2, topological domain 2, sequence conflict 2, turn 2, signal peptide 1, chain 1, disulfide bond 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
9CXB	ELECTRON MICROSCOPY	3.33
9CTV	ELECTRON MICROSCOPY	3.36
9CXD	ELECTRON MICROSCOPY	3.36

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P18505-F1	78.01	0.57

Antibody-complex structures (SAbDab): 3 — 9CTV, 9CXB, 9CXD

Functional residue map

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

Ligand- & substrate-binding residues (5): 182 (in chain a); 227 (in chain a); 227 (in chain b); 122 (in chain b); 181–182 (in chain b)

Disulfide bonds (1): 161–175

Glycosylation sites (2): 105, 174

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-1236394	Signaling by ERBB4
R-HSA-977443	GABA receptor activation

MSigDB gene sets: 238 (showing top): GOBP_RESPONSE_TO_NITROGEN_COMPOUND, MODULE_274, TGCGCANK_UNKNOWN, GOBP_INORGANIC_ANION_TRANSPORT, GOBP_GAMMA_AMINOBUTYRIC_ACID_SIGNALING_PATHWAY, GOBP_NEUROGENESIS, GOBP_CELL_CELL_SIGNALING, chr4p12, GOBP_CHLORIDE_TRANSPORT, GOBP_NEGATIVE_REGULATION_OF_SYNAPTIC_TRANSMISSION, GOBP_RESPONSE_TO_KETONE, GOBP_REGULATION_OF_POSTSYNAPTIC_MEMBRANE_POTENTIAL, WTGAAAT_UNKNOWN, KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION, GOBP_CENTRAL_NERVOUS_SYSTEM_NEURON_DIFFERENTIATION

GO Biological Process (16): monoatomic ion transport (GO:0006811), signal transduction (GO:0007165), gamma-aminobutyric acid signaling pathway (GO:0007214), response to toxic substance (GO:0009636), central nervous system neuron development (GO:0021954), response to progesterone (GO:0032570), ovulation cycle (GO:0042698), synaptic transmission, GABAergic (GO:0051932), cellular response to histamine (GO:0071420), chloride transmembrane transport (GO:1902476), chloride transport (GO:0006821), monoatomic ion transmembrane transport (GO:0034220), regulation of membrane potential (GO:0042391), regulation of postsynaptic membrane potential (GO:0060078), monoatomic anion transmembrane transport (GO:0098656), regulation of presynaptic membrane potential (GO:0099505)

GO Molecular Function (13): GABA-A receptor activity (GO:0004890), ligand-gated monoatomic ion channel activity (GO:0015276), GABA-gated chloride ion channel activity (GO:0022851), GABA receptor binding (GO:0050811), ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential (GO:0099507), obsolete G protein-coupled neurotransmitter receptor activity involved in regulation of presynaptic membrane potential (GO:0150047), transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential (GO:1904315), transmembrane signaling receptor activity (GO:0004888), monoatomic ion channel activity (GO:0005216), extracellular ligand-gated monoatomic ion channel activity (GO:0005230), monoatomic anion channel activity (GO:0005253), chloride channel activity (GO:0005254), neurotransmitter receptor activity (GO:0030594)

GO Cellular Component (13): nuclear envelope (GO:0005635), plasma membrane (GO:0005886), dendrite (GO:0030425), chloride channel complex (GO:0034707), presynaptic active zone membrane (GO:0048787), Schaffer collateral - CA1 synapse (GO:0098685), GABA-ergic synapse (GO:0098982), postsynaptic specialization membrane (GO:0099634), GABA-A receptor complex (GO:1902711), membrane (GO:0016020), signaling receptor complex (GO:0043235), synapse (GO:0045202), postsynaptic membrane (GO:0045211)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Signaling by Receptor Tyrosine Kinases	1
Neurotransmitter receptors and postsynaptic signal transmission	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
synaptic membrane	3
GABA receptor activity	2
monoatomic anion transport	2
monoatomic ion transmembrane transport	2
regulation of membrane potential	2
monoatomic ion channel activity	2
transmitter-gated monoatomic ion channel activity	2
ligand-gated monoatomic ion channel activity	2
presynaptic membrane	2
signaling receptor activity	2
synapse	2
transport	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
cell-cell signaling	1
response to chemical	1
central nervous system neuron differentiation	1
neuron development	1
response to steroid hormone	1
response to ketone	1
rhythmic process	1
multicellular organismal reproductive process	1
chemical synaptic transmission	1
response to histamine	1
cellular response to nitrogen compound	1
chloride transport	1
monoatomic anion transmembrane transport	1
inorganic anion transport	1
monoatomic ion transport	1
transmembrane transport	1
regulation of biological quality	1
ligand-gated channel activity	1
chloride channel activity	1
ligand-gated monoatomic anion channel activity	1
signaling receptor binding	1
regulation of presynaptic membrane potential	1
regulation of postsynaptic membrane potential	1

Protein interactions and networks

STRING

1524 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GABRB1	GABRA4	P48169	785
GABRB1	ACADM	P11310	736
GABRB1	GABBR1	Q9UBS5	720
GABRB1	GABRG1	Q8N1C3	635
GABRB1	NTRK2	Q16620	596
GABRB1	COMMD8	Q9NX08	591
GABRB1	GRM5	P41594	576
GABRB1	GABBR2	O75899	545
GABRB1	GABRG2	P18507	539
GABRB1	GABRA1	P14867	522
GABRB1	GABRA2	P47869	517
GABRB1	PGM1	P36871	511
GABRB1	GABARAP	O95166	502
GABRB1	AHI1	Q8N157	491
GABRB1	GABRB3	P28472	486

IntAct

6 interactions, top by confidence:

A	B	Type	Score
FKBP5	GABRB1	psi-mi:“MI:0915”(physical association)	0.400
NOD1	GABRB1	psi-mi:“MI:0915”(physical association)	0.370
GABRB1	NEUROD4	psi-mi:“MI:0915”(physical association)	0.370
CUL1	LGALS8	psi-mi:“MI:0914”(association)	0.350
	DNAJA2	psi-mi:“MI:0914”(association)	0.350

BioGRID (7): GABRB1 (Affinity Capture-MS), GABRB1 (Two-hybrid), GABRB1 (Affinity Capture-MS), NOD1 (Two-hybrid), NEUROD4 (Two-hybrid), GABRB1 (Affinity Capture-Luminescence), GABRB1 (Affinity Capture-MS)

ESM2 similar proteins: D1LYT2, O94925, P08219, P08220, P0C2W5, P10063, P10064, P14867, P15431, P16305, P18505, P18507, P18508, P19019, P19150, P19969, P20236, P21548, P22300, P22723, P23574, P23576, P24045, P26048, P26049, P27681, P28472, P28473, P30191, P31644, P34903, P47869, P47870, P50571, P62812, P62813, P63079, P63080, P63137, P63138

Diamond homologs: A0A1S4H2E2, A8MPY1, D1LYT2, G5EBR3, O14764, O75311, O93430, P0C2W5, P15431, P18505, P18506, P19019, P20781, P22771, P22933, P23416, P24045, P25123, P28472, P47870, P48167, P48168, P63079, P63080, P63137, P63138, Q08832, Q61603, Q75NA5, Q7TNC8, Q94900, Q9BLY8, Q9GJS9, Q9V9Y4, F1R8P4, O00591, O09028, O18276, P07727, P08219

SIGNOR signaling

6 interactions.

A	Effect	B	Mechanism
GABRB1	“form complex”	“GABA-A (a1-b1-g2) receptor”	binding
GABRB1	“form complex”	“GABA-A (a2-b1-g2) receptor”	binding
GABRB1	“form complex”	“GABA-A (a3-b1-g2) receptor”	binding
GABRB1	“form complex”	“GABA-A (a4-b1-g2) receptor”	binding
GABRB1	“form complex”	“GABA-A (a6-b1-g2) receptor”	binding
GABRB1	“form complex”	“GABA-A (a5-b1-g2) receptor”	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	4
Uncertain significance	216
Likely benign	191
Benign	24

Top pathogenic / likely-pathogenic (5)

Variant ID	HGVS	Classification
265863	NM_000812.4(GABRB1):c.737T>C (p.Phe246Ser)	Pathogenic
265864	NM_000812.4(GABRB1):c.860C>T (p.Thr287Ile)	Likely pathogenic
431076	NM_000812.4(GABRB1):c.157C>T (p.Arg53Trp)	Likely pathogenic
982940	NM_000812.4(GABRB1):c.854C>A (p.Thr285Lys)	Likely pathogenic
984675	NM_000812.4(GABRB1):c.740T>C (p.Ile247Thr)	Likely pathogenic

SpliceAI

2804 predictions. Top by Δscore:

Variant	Effect	Δscore
4:47032003:G:GT	donor_gain	1.0000
4:47032413:GCA:G	acceptor_loss	1.0000
4:47032414:CA:C	acceptor_loss	1.0000
4:47032415:A:AG	acceptor_gain	1.0000
4:47032415:A:AT	acceptor_loss	1.0000
4:47032416:G:GG	acceptor_gain	1.0000
4:47032481:TATGG:T	donor_loss	1.0000
4:47032483:TGGTG:T	donor_loss	1.0000
4:47032485:G:C	donor_loss	1.0000
4:47032486:T:A	donor_loss	1.0000
4:47032487:GAGTG:G	donor_loss	1.0000
4:47161240:A:AG	acceptor_gain	1.0000
4:47161245:ACAG:A	acceptor_gain	1.0000
4:47161246:CA:C	acceptor_loss	1.0000
4:47161247:AG:A	acceptor_gain	1.0000
4:47161247:AGGA:A	acceptor_loss	1.0000
4:47161248:GG:G	acceptor_gain	1.0000
4:47161248:GGATT:G	acceptor_gain	1.0000
4:47161467:CCGGT:C	donor_loss	1.0000
4:47161468:CGG:C	donor_loss	1.0000
4:47161469:GGTAA:G	donor_loss	1.0000
4:47161470:G:GG	donor_gain	1.0000
4:47161470:GTA:G	donor_loss	1.0000
4:47161471:T:G	donor_loss	1.0000
4:47161477:GCTT:G	donor_gain	1.0000
4:47320122:A:AG	acceptor_gain	1.0000
4:47320123:T:G	acceptor_gain	1.0000
4:47320125:A:AG	acceptor_gain	1.0000
4:47320126:G:GA	acceptor_gain	1.0000
4:47320126:GA:G	acceptor_gain	1.0000

AlphaMissense

3126 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:47031985:G:C	R51P	1.000
4:47031994:C:A	P54Q	1.000
4:47032459:T:A	I72K	1.000
4:47032470:T:C	S76P	1.000
4:47032484:G:A	M80I	1.000
4:47032484:G:C	M80I	1.000
4:47032484:G:T	M80I	1.000
4:47161259:T:C	L84P	1.000
4:47161277:A:C	Q90P	1.000
4:47161282:T:A	W92R	1.000
4:47161282:T:C	W92R	1.000
4:47161283:G:C	W92S	1.000
4:47161284:G:C	W92C	1.000
4:47161284:G:T	W92C	1.000
4:47161288:G:C	D94H	1.000
4:47161289:A:C	D94A	1.000
4:47161289:A:T	D94V	1.000
4:47161295:G:C	R96T	1.000
4:47161295:G:T	R96M	1.000
4:47161296:G:C	R96S	1.000
4:47161296:G:T	R96S	1.000
4:47161298:T:C	L97P	1.000
4:47161325:T:C	L106P	1.000
4:47161331:T:C	L108P	1.000
4:47161334:A:T	D109V	1.000
4:47161355:T:C	L116P	1.000
4:47161357:T:A	W117R	1.000
4:47161357:T:C	W117R	1.000
4:47161358:G:C	W117S	1.000
4:47161359:G:C	W117C	1.000

dbSNP variants (sampled 300 via entrez): RS1000008398 (4:47011718 A>G), RS1000010539 (4:47306783 A>T), RS1000013325 (4:47147316 T>C), RS1000021886 (4:47166273 A>G), RS1000035562 (4:47070595 G>A,C), RS1000040069 (4:47233066 G>C), RS1000045968 (4:47271220 T>A), RS1000046077 (4:47061869 T>C), RS1000051540 (4:47050431 A>G), RS1000054600 (4:47143171 C>A), RS10000568 (4:47045968 A>C,G), RS1000062688 (4:47390425 G>A), RS1000066554 (4:47246518 A>T), RS10000697 (4:47313304 C>A,T), RS1000091511 (4:47353504 A>G)

Disease associations

OMIM: gene MIM:137190 | disease phenotypes: MIM:617153

GenCC curated gene-disease

Disease	Classification	Inheritance
developmental and epileptic encephalopathy, 45	Strong	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
genetic developmental and epileptic encephalopathy	Limited	AD

Mondo (1): developmental and epileptic encephalopathy, 45 (MONDO:0014942)

Orphanet (0):

HPO phenotypes

11 total (11 of 11 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0001250	Seizure
HP:0001251	Ataxia
HP:0001252	Hypotonia
HP:0001263	Global developmental delay
HP:0002079	Hypoplasia of the corpus callosum
HP:0002376	Developmental regression
HP:0002521	Hypsarrhythmia
HP:0003593	Infantile onset
HP:0100704	Cerebral visual impairment
HP:0200134	Epileptic encephalopathy

GWAS associations

10 associations (top):

Study	Trait	p-value
GCST001762_151	Obesity-related traits	5.000000e-06
GCST004833_2	Cervical cancer	1.000000e-06
GCST004967_3	Moderate or severe diarrhoea in darapladib-treated cardiovascular disease (time to event)	3.000000e-08
GCST005231_47	Major depressive disorder	7.000000e-06
GCST006088_49	Familial squamous cell lung carcinoma	5.000000e-06
GCST007096_41	Pulse pressure	1.000000e-08
GCST007099_152	Systolic blood pressure	4.000000e-07
GCST007324_163	Adventurousness	7.000000e-12
GCST007325_311	General risk tolerance (MTAG)	5.000000e-14
GCST012489_144	Heel bone mineral density x serum urate levels interaction	3.000000e-08

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0004338	body weight
EFO:0008395	response to darapladib
EFO:0006953	family history of lung cancer
EFO:0005763	pulse pressure measurement
EFO:0006335	systolic blood pressure
EFO:0008579	risk-taking behaviour
EFO:0004531	urate measurement
EFO:0009270	heel bone mineral density

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (8): CHEMBL2093872 (PROTEIN COMPLEX GROUP), CHEMBL2109244 (PROTEIN COMPLEX GROUP), CHEMBL2111392 (PROTEIN COMPLEX), CHEMBL3885570 (PROTEIN COMPLEX), CHEMBL4296045 (PROTEIN COMPLEX), CHEMBL4523639 (PROTEIN COMPLEX), CHEMBL4558 (SINGLE PROTEIN), CHEMBL5291949 (PROTEIN COMPLEX)

Molecules with ChEMBL bioactivity

18 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 572,958 (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
CHEMBL1082407	ENZALUTAMIDE	4	9,652
CHEMBL12	DIAZEPAM	4	92,281
CHEMBL1544	LIOTHYRONINE	4	23,700
CHEMBL1568698	GANAXOLONE	4	1,657
CHEMBL207538	BREXANOLONE	4	1,585
CHEMBL3183409	APALUTAMIDE	4	4,076
CHEMBL407	FLUMAZENIL	4	7,150
CHEMBL452	CLONAZEPAM	4	33,297
CHEMBL526	PROPOFOL	4	28,835
CHEMBL15891	LINDANE	4	83,653
CHEMBL911	ZOLPIDEM	4	17,821
CHEMBL268254	DELORAZEPAM	2	1,308
CHEMBL275638	FLAVONE	2	88,985
CHEMBL287631	PROGABIDE	2	3,853
CHEMBL454095	ABECARNIL	2	566
CHEMBL8260	BAICALEIN	2	8,592
CHEMBL273481	MUSCIMOL	1	5,759
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
rs4627835	GABRB1		0.00	0
rs16860087	GABRB1		0.00	0

GtoPdb / IUPHAR curated pharmacology

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

Target class: lgic — GABA_A receptors

ChEMBL bioactivities

558 potent at pChembl≥5 of 619 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
10.00	IC50	0.1	nM	CHEMBL454349
9.80	IC50	0.16	nM	CHEMBL309517
9.70	IC50	0.2	nM	CHEMBL4747460
9.62	IC50	0.24	nM	CHEMBL79037
9.57	Ki	0.27	nM	CHEMBL381059
9.40	IC50	0.3981	nM	CGS-8216
9.40	IC50	0.4	nM	CHEMBL1271047
9.34	IC50	0.46	nM	CHEMBL78730
9.31	IC50	0.49	nM	CHEMBL76263
9.30	IC50	0.5	nM	CHEMBL5266498
9.30	IC50	0.5	nM	CHEMBL5290464
9.30	IC50	0.5	nM	CHEMBL5280240
9.30	IC50	0.5	nM	CHEMBL49141
9.30	IC50	0.5	nM	CHEMBL1518572
9.22	IC50	0.6026	nM	CGS-9896
9.22	IC50	0.6	nM	CHEMBL419096
9.12	IC50	0.76	nM	CHEMBL540583
9.10	IC50	0.79	nM	CHEMBL77226
9.10	IC50	0.8	nM	CHEMBL5265845
9.10	IC50	0.8	nM	CHEMBL5291368
9.10	IC50	0.8	nM	CHEMBL5271392
9.07	Ki	0.85	nM	CLONAZEPAM
9.05	Ki	0.9	nM	FLUMAZENIL
9.05	IC50	0.9	nM	CHEMBL5285377
9.00	Ki	1	nM	CHEMBL3410222
9.00	IC50	1	nM	BETA-CCM
9.00	IC50	1	nM	CHEMBL454606
9.00	IC50	1	nM	CHEMBL1337028
9.00	IC50	1	nM	CHEMBL509197
9.00	IC50	1	nM	ABECARNIL
9.00	Ki	1	nM	CHEMBL54341
9.00	Ki	1	nM	CHEMBL348367
8.96	IC50	1.1	nM	CHEMBL444586
8.77	Ki	1.7	nM	CHEMBL154342
8.74	IC50	1.8	nM	CHEMBL444050
8.70	IC50	2	nM	MUSCIMOL
8.66	IC50	2.2	nM	CHEMBL80610
8.64	IC50	2.3	nM	FIPRONIL
8.55	IC50	2.8	nM	CHEMBL75642
8.55	Ki	2.8	nM	CHEMBL372281
8.55	IC50	2.8	nM	DELORAZEPAM
8.52	Ki	3	nM	CHEMBL265547
8.52	IC50	3	nM	CHEMBL510764
8.52	IC50	3	nM	CHEMBL5266558
8.52	IC50	3	nM	CHEMBL2262044
8.52	IC50	3	nM	CHEMBL499814
8.52	IC50	3	nM	CHEMBL1161036
8.48	IC50	3.3	nM	CHEMBL75642
8.40	IC50	3.981	nM	CHEMBL301605
8.40	Ki	4	nM	CHEMBL330116

PubChem BioAssay actives

488 with measured affinity, of 1146 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
2-(4-methoxyphenyl)-1H-pyrazolo[4,3-c]quinolin-3-one	40988: Inhibition on Benzodiazepine receptor	ic50	0.0001	uM
ethyl 4-(methoxymethyl)-5-phenylmethoxy-9H-pyrido[3,4-b]indole-3-carboxylate	1932290: Displacement of [3H]flunitrazepam from GABAA (unknown origin ) receptor by radioligand binding assay	ic50	0.0002	uM
ethyl 6-benzyl-4-oxo-1H-quinoline-3-carboxylate	262560: Displacement of [3H]Flumazenil from human GABA-Aalpha1 receptor plus beta-2-gamma-2 expressed in HEK293 cells	ki	0.0003	uM
ethyl 4-methyl-5-propan-2-yloxy-9H-pyrido[3,4-b]indole-3-carboxylate	1932290: Displacement of [3H]flunitrazepam from GABAA (unknown origin ) receptor by radioligand binding assay	ic50	0.0004	uM
2-phenyl-3aH-pyrazolo[4,3-c]quinolin-3-one	40988: Inhibition on Benzodiazepine receptor	ic50	0.0004	uM
ethyl 4-(methoxymethyl)-6-phenylmethoxy-9H-pyrido[3,4-b]indole-3-carboxylate	1932290: Displacement of [3H]flunitrazepam from GABAA (unknown origin ) receptor by radioligand binding assay	ic50	0.0005	uM
ethyl 4-(methoxymethyl)-9H-pyrido[3,4-b]indole-3-carboxylate	1932290: Displacement of [3H]flunitrazepam from GABAA (unknown origin ) receptor by radioligand binding assay	ic50	0.0005	uM
ethyl 6-methoxy-4-(methoxymethyl)-9H-pyrido[3,4-b]indole-3-carboxylate	1932290: Displacement of [3H]flunitrazepam from GABAA (unknown origin ) receptor by radioligand binding assay	ic50	0.0005	uM
ethyl 4-(methoxymethyl)-6-propoxy-9H-pyrido[3,4-b]indole-3-carboxylate	1932290: Displacement of [3H]flunitrazepam from GABAA (unknown origin ) receptor by radioligand binding assay	ic50	0.0005	uM
ethyl 6-hydroxy-4-(methoxymethyl)-9H-pyrido[3,4-b]indole-3-carboxylate	1932290: Displacement of [3H]flunitrazepam from GABAA (unknown origin ) receptor by radioligand binding assay	ic50	0.0005	uM
2-(4-chlorophenyl)-3aH-pyrazolo[4,3-c]quinolin-3-one	40988: Inhibition on Benzodiazepine receptor	ic50	0.0006	uM
5-[[3-(1,3-benzodioxol-5-yl)-6-iminopyridazin-1-yl]methyl]-1,2-thiazol-3-one;hydrobromide	72153: Affinity for gamma-aminobutyric-acid A receptor measured by its ability to displace [3H]gabazine antagonist from rat brain preparations.	ic50	0.0008	uM
propan-2-yl 16-(methoxymethyl)-3,6,11,14-tetrazatetracyclo[8.7.0.02,7.012,17]heptadeca-1(10),2,4,6,8,12,14,16-octaene-15-carboxylate	1932305: Inhibition of GABAA receptor (unknown origin)	ic50	0.0008	uM
propan-2-yl 4-(methoxymethyl)-6,9,14,21-tetrazapentacyclo[11.8.0.02,10.03,8.015,20]henicosa-1(21),2,4,6,8,10,12,15(20)-octaene-5-carboxylate	1932305: Inhibition of GABAA receptor (unknown origin)	ic50	0.0008	uM
propan-2-yl 15-(methoxymethyl)-4-propan-2-yl-5-oxa-10,13-diazatetracyclo[7.7.0.02,6.011,16]hexadeca-1(9),2(6),3,7,11,13,15-heptaene-14-carboxylate	1932305: Inhibition of GABAA receptor (unknown origin)	ic50	0.0008	uM
Clonazepam	239299: Displacement of [3H]flumazenil from bovine benzodiazepine receptor GABA-A channel of brain membranes	ki	0.0008	uM
15-(methoxymethyl)-14-(5-methyl-1,2-oxazol-3-yl)-4-propan-2-yl-5-oxa-3,10,13-triazatetracyclo[7.7.0.02,6.011,16]hexadeca-1(9),2(6),3,7,11,13,15-heptaene	1932305: Inhibition of GABAA receptor (unknown origin)	ic50	0.0009	uM
Flumazenil	239299: Displacement of [3H]flumazenil from bovine benzodiazepine receptor GABA-A channel of brain membranes	ki	0.0009	uM
ethyl 9H-pyrido[3,4-b]indole-3-carboxylate	1932290: Displacement of [3H]flunitrazepam from GABAA (unknown origin ) receptor by radioligand binding assay	ic50	0.0010	uM
methyl 9H-pyrido[3,4-b]indole-3-carboxylate	1932290: Displacement of [3H]flunitrazepam from GABAA (unknown origin ) receptor by radioligand binding assay	ic50	0.0010	uM
propyl 9H-pyrido[3,4-b]indole-3-carboxylate	1932290: Displacement of [3H]flunitrazepam from GABAA (unknown origin ) receptor by radioligand binding assay	ic50	0.0010	uM
tert-butyl 9H-pyrido[3,4-b]indole-3-carboxylate	1932290: Displacement of [3H]flunitrazepam from GABAA (unknown origin ) receptor by radioligand binding assay	ic50	0.0010	uM
7-chloro-5-methyl-3-(2-phenylethynyl)-4H-imidazo[1,5-a][1,4]benzodiazepin-6-one	1196597: Displacement of [3H]flumazenil from rat cortex GABAA receptor BDZ binding site expressed in HEK293 cells by competition binding assay	ki	0.0010	uM
6-bromo-2-(3-nitrophenyl)chromen-4-one	72729: Binding affinity towards benzodiazepine site in GABAA receptor	ki	0.0010	uM
(2-methoxyphenyl)methyl 8-chloro-5-oxido-3,3a-dihydropyrazolo[5,1-c][1,2,4]benzotriazin-5-ium-3-carboxylate	41860: Binding affinity towards Benzodiazepine receptor from bovine brain membrane using [3H]Ro-151788 as radioligand	ki	0.0010	uM
propan-2-yl 4-(methoxymethyl)-6-phenylmethoxy-9H-pyrido[3,4-b]indole-3-carboxylate	1932290: Displacement of [3H]flunitrazepam from GABAA (unknown origin ) receptor by radioligand binding assay	ic50	0.0010	uM
(2-methoxyphenyl)methyl 8-chloropyrazolo[5,1-c][1,2,4]benzotriazine-3-carboxylate	41860: Binding affinity towards Benzodiazepine receptor from bovine brain membrane using [3H]Ro-151788 as radioligand	ki	0.0017	uM
5-(aminomethyl)-1,2-oxazol-3-one	72155: Binding affinity in vivo for gamma-aminobutyric-acid A receptor measured by its ability to displace [3H]-GABA agonist from rat brain preparations after iv injection.	ic50	0.0020	uM
Fipronil	242615: In vitro insecticidal activity as inhibition of [3H]EBOB binding to Gamma-aminobutyric acid GABA-A receptor of housefly neuronal membranes	ic50	0.0023	uM
9-chloro-2-phenyl-6H-triazolo[1,2-a][1,2,4]benzotriazine-1,5-dione	239299: Displacement of [3H]flumazenil from bovine benzodiazepine receptor GABA-A channel of brain membranes	ki	0.0028	uM
7-chloro-5-(2-chlorophenyl)-1,3-dihydro-1,4-benzodiazepin-2-one	40974: In vitro displacement of [3H]-diazepam from GABA-A Benzodiazepine receptor	ic50	0.0028	uM
3-isothiocyanato-9H-pyrido[3,4-b]indole	1932290: Displacement of [3H]flunitrazepam from GABAA (unknown origin ) receptor by radioligand binding assay	ic50	0.0030	uM
9H-pyrido[3,4-b]indole-3-carbonitrile	1932290: Displacement of [3H]flunitrazepam from GABAA (unknown origin ) receptor by radioligand binding assay	ic50	0.0030	uM
3-(6,7-difluoro-1,3-benzoxazol-2-yl)-1,3a,4,5,6,7,8,8a-octahydrocyclohepta[d]imidazol-2-one	40986: Binding affinity against GABA-A benzodiazepine receptor	ki	0.0030	uM
(5aR,7R,9aS,11aS)-2-amino-7-hydroxy-9a,11a-dimethyl-3,3a,3b,4,5,5a,6,7,8,9,9b,11-dodecahydronaphtho[2,1-e]indol-10-one	72153: Affinity for gamma-aminobutyric-acid A receptor measured by its ability to displace [3H]gabazine antagonist from rat brain preparations.	ic50	0.0030	uM
3-propoxy-9H-pyrido[3,4-b]indole	1932290: Displacement of [3H]flunitrazepam from GABAA (unknown origin ) receptor by radioligand binding assay	ic50	0.0030	uM
1-(9H-pyrido[3,4-b]indol-3-yl)butan-1-one	1932290: Displacement of [3H]flunitrazepam from GABAA (unknown origin ) receptor by radioligand binding assay	ic50	0.0030	uM
8-fluoro-5-methyl-3-(2-phenylethynyl)-4H-imidazo[1,5-a][1,4]benzodiazepin-6-one	1196597: Displacement of [3H]flumazenil from rat cortex GABAA receptor BDZ binding site expressed in HEK293 cells by competition binding assay	ki	0.0040	uM
methyl 6-hydroxy-9H-pyrido[3,4-b]indole-3-carboxylate	1932290: Displacement of [3H]flunitrazepam from GABAA (unknown origin ) receptor by radioligand binding assay	ic50	0.0040	uM
2-phenyl-6H-[1,2,4]triazolo[1,5-c]quinazolin-5-one	40986: Binding affinity against GABA-A benzodiazepine receptor	ki	0.0040	uM
17-chloro-9,12,20-triazapentacyclo[11.7.0.02,10.03,8.014,19]icosa-1(13),2(10),3,5,7,11,14,16,18-nonaene	1932305: Inhibition of GABAA receptor (unknown origin)	ic50	0.0040	uM
5-nitro-9,12,20-triazapentacyclo[11.7.0.02,10.03,8.014,19]icosa-1(13),2(10),3,5,7,11,14,16,18-nonaene	1932305: Inhibition of GABAA receptor (unknown origin)	ic50	0.0040	uM
5-bromo-9,12,20-triazapentacyclo[11.7.0.02,10.03,8.014,19]icosa-1(13),2(10),3,5,7,11,14,16,18-nonaene	1932305: Inhibition of GABAA receptor (unknown origin)	ic50	0.0040	uM
17-methoxy-9,12,20-triazapentacyclo[11.7.0.02,10.03,8.014,19]icosa-1(13),2(10),3,5,7,11,14,16,18-nonaene	1932305: Inhibition of GABAA receptor (unknown origin)	ic50	0.0040	uM
9,12,20-triazapentacyclo[11.7.0.02,10.03,8.014,19]icosa-1(13),2(10),3,5,7,11,14,16,18-nonaene	1932305: Inhibition of GABAA receptor (unknown origin)	ic50	0.0040	uM
methyl 6-(benzylamino)-9H-pyrido[3,4-b]indole-3-carboxylate	1932290: Displacement of [3H]flunitrazepam from GABAA (unknown origin ) receptor by radioligand binding assay	ic50	0.0040	uM
3-methylbutyl 6-ethyl-4-oxo-1H-quinoline-3-carboxylate	262560: Displacement of [3H]Flumazenil from human GABA-Aalpha1 receptor plus beta-2-gamma-2 expressed in HEK293 cells	ki	0.0041	uM
Diazepam	1934094: Inhibition of GABA-A receptor (unknown origin)	ic50	0.0042	uM
4-acetyl-13-(4-chlorophenyl)-5-thia-13,14-diazatricyclo[8.4.0.02,6]tetradeca-1(10),2(6),3-trien-12-one	40977: Binding affinity for GABA-A Benzodiazepine receptor	ki	0.0042	uM
1-[2,6-dichloro-4-(trifluoromethyl)phenyl]-4-(trifluoromethylsulfinyl)pyrazole	242615: In vitro insecticidal activity as inhibition of [3H]EBOB binding to Gamma-aminobutyric acid GABA-A receptor of housefly neuronal membranes	ic50	0.0042	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
gamma-Aminobutyric Acid	decreases reaction, affects binding, increases activity, increases reaction	6
Valproic Acid	affects cotreatment, increases expression, affects expression	6
bisphenol A	decreases expression, increases methylation	2
fipronil	decreases activity, affects binding	2
Hexachlorocyclohexane	affects binding, decreases reaction, increases activity	2
Enflurane	affects binding, decreases reaction, increases activity, increases reaction	2
Lead	affects methylation, affects expression	2
Propofol	increases activity, increases reaction, affects binding	2
bisphenol F	increases expression	1
sodium arsenite	affects methylation	1
picrotoxinin	affects binding, decreases reaction, increases activity	1
1,1,1-trichloroethane	increases reaction, affects binding, increases activity	1
tribromoethanol	increases reaction, affects binding, increases activity	1
delta-hexachlorocyclohexane	affects binding, increases activity, increases reaction, decreases activity	1
1-(4-ethynylphenyl)-4-propyl-2,6,7-trioxabicyclo(2.2.2)octane	affects binding, increases reaction	1
entinostat	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
Sevoflurane	affects binding, increases activity, increases reaction	1
Felbamate	affects binding, decreases activity	1
Ethanol	decreases expression	1
Azacitidine	increases expression	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Bicuculline	affects binding, decreases activity	1
Chloral Hydrate	affects binding, increases activity, increases reaction	1
Chloralose	affects binding, increases activity, increases reaction, decreases reaction	1
Chlorobutanol	affects binding, increases activity, increases reaction	1
Diazepam	increases activity, affects binding	1
Diethylhexyl Phthalate	decreases expression	1
Endosulfan	affects binding	1

ChEMBL screening assays

266 unique, capped per target: 219 binding, 39 functional, 5 admet, 3 toxicity

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL3363914	Binding	Displacement of [3H]Muscimol from rat GABAA receptor at 10 uM after 90 mins by microbeta counting analysis	Griseorhodins D-F, neuroactive intermediates and end products of post-PKS tailoring modification in Griseorhodin biosynthesis. — J Nat Prod
CHEMBL4810229	ADMET	Inhibition of GABA A 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
CHEMBL5335653	Toxicity	Antagonist activity at GABA-A (unknown origin)	Discovery of a Novel Bifunctional Steroid Analog, YXG-158, as an Androgen Receptor Degrader and CYP17A1 Inhibitor for the Treatment of Enzalutamide-Resistant Prostate Cancer. — J Med Chem

Clinical trials (associated diseases)

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