GABRB2

Summary

GABRB2 (gamma-aminobutyric acid type A receptor subunit beta2, HGNC:4082) is a protein-coding gene on chromosome 5q34, encoding Gamma-aminobutyric acid receptor subunit beta-2 (P47870). 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 2 subunit. It is mapped to chromosome 5q34 in a cluster comprised of genes encoding alpha 1 and gamma 2 subunits of the GABA A receptor. Alternative splicing of this gene generates 2 transcript variants, differing by a 114 bp insertion.

Source: NCBI Gene 2561 — RefSeq curated summary.

At a glance

• Gene–disease (curated): complex neurodevelopmental disorder (Definitive, ClinGen) — +2 more curated relationships
• GWAS associations: 6
• Clinical variants (ClinVar): 656 total — 17 pathogenic, 36 likely-pathogenic (top 5% of genes corpus-wide)
• Regional missense constraint (gnomAD): 2 of 6 regions constrained (≈37% of expected missense variation)
• GTEx eGene: eQTL in 15 tissues, sQTL in 0 (q < 0.05)
• Phenotypes (HPO): 58
• Drug target: yes — 1 via a complex or family; 47 molecules with ChEMBL bioactivity (top 1% of genes corpus-wide)
• Approved drugs acting on a complex or family including it: 1 — Zopiclone (GABA-A receptor; agonist GABA site)
• Constraint (gnomAD): pLI 1.00 (loss-of-function intolerant), LOEUF 0.43 (moderately constrained)
• MANE Select transcript: NM_001371727

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4082
Approved symbol	GABRB2
Name	gamma-aminobutyric acid type A receptor subunit beta2
Location	5q34
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000145864
Ensembl biotype	protein_coding
OMIM	600232
Entrez	2561

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 12 protein_coding, 4 retained_intron, 3 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay

MANE Select: ENST00000393959

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 4, TSL 2: 2, TSL 4: 1, TSL 5: 2

ENST00000393959, ENST00000274547, ENST00000353437, ENST00000517547, ENST00000517901, ENST00000520240, ENST00000522758, ENST00000523730, ENST00000612710, ENST00000674514, ENST00000674988, ENST00000675081, ENST00000675245, ENST00000675303, ENST00000675381, ENST00000675682, ENST00000675746, ENST00000675773, ENST00000965237, ENST00001046234, ENST00001135250

RefSeq mRNA: 3 — MANE Select: NM_001371727 NM_000813, NM_001371727, NM_021911

CCDS: CCDS4354, CCDS4355

Canonical transcript exons

ENST00000393959 — 10 exons

Exon	Start	End
ENSE00001021240	161334752	161334904
ENSE00001021241	161330883	161331127
ENSE00001085891	161326368	161326481
ENSE00001085898	161336632	161336769
ENSE00001517004	161546567	161546725
ENSE00001712165	161459624	161459844
ENSE00003548654	161546322	161546413
ENSE00003642061	161545227	161545294
ENSE00003675528	161410975	161411057
ENSE00003897126	161288436	161294428

Expression profiles

Bgee: expression breadth ubiquitous, 198 present calls, max score 99.82.

FANTOM5 (CAGE): breadth broad, TPM avg 5.0297 / max 574.1446, expressed in 262 samples.

Highest expression (Bgee): Brodmann (1909) area 23, endothelial cell, lateral nuclear group of thalamus, postcentral gyrus, parietal lobe.

Genetic regulation across tissues (GTEx eQTL / sQTL)

GABRB2 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 15 tissues and its splicing (sQTL) in 0 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

15 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Esophagus Muscularis	eqtl	3.7e-15	+1.35	5:161101801:A:C
Adipose Subcutaneous	eqtl	7.0e-12	-0.39	5:161139271:T:C
Muscle Skeletal	eqtl	7.2e-11	-0.34	5:161504964:A:G
Esophagus Gastroesophageal Junction	eqtl	2.6e-06	+0.98	5:161101801:A:C
Lung	eqtl	1.3e-05	-0.26	5:161515394:T:C
Skin Sun Exposed Lower leg	eqtl	4.3e-05	-0.48	5:161140680:T:C
Adipose Visceral Omentum	eqtl	5.9e-04	+0.69	5:160614214:G:A
Stomach	eqtl	1.1e-03	+0.75	5:161148058:C:T
Skin Not Sun Exposed Suprapubic	eqtl	3.6e-03	-0.21	5:160969809:A:G
Nerve Tibial	eqtl	3.9e-03	+0.21	5:161569705:A:T
Brain Cerebellum	eqtl	1.8e-02	-0.13	5:161281382:G:A
Colon Transverse	eqtl	1.9e-02	-0.17	5:161572972:A:G
Thyroid	eqtl	2.1e-02	-0.19	5:160799961:G:T
Brain Hypothalamus	eqtl	2.3e-02	-0.57	5:161396241:A:G
Artery Tibial	eqtl	3.3e-02	+0.43	5:160798589:G:C

FANTOM5 promoters

showing 10 of 13 alternative TSS:

Promoter ID	TPM avg	Samples expressed
64669	3.0478	172
64668	0.8147	92
64678	0.2621	90
64676	0.2463	72
64672	0.1560	54
64670	0.1306	57
64673	0.0949	50
64677	0.0901	40
64671	0.0770	43
64666	0.0390	27

Top tissues by expression

showing 100 of 280 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
Brodmann (1909) area 23	UBERON:0013554	99.82	gold quality
endothelial cell	CL:0000115	99.56	gold quality
lateral nuclear group of thalamus	UBERON:0002736	99.32	gold quality
postcentral gyrus	UBERON:0002581	99.18	gold quality
parietal lobe	UBERON:0001872	99.07	gold quality
middle temporal gyrus	UBERON:0002771	98.39	gold quality
entorhinal cortex	UBERON:0002728	98.34	gold quality
buccal mucosa cell	CL:0002336	97.99	gold quality
lateral globus pallidus	UBERON:0002476	97.71	gold quality
superior frontal gyrus	UBERON:0002661	97.67	gold quality
primary visual cortex	UBERON:0002436	96.52	gold quality
occipital lobe	UBERON:0002021	95.66	gold quality
pons	UBERON:0000988	94.17	gold quality
cerebellar cortex	UBERON:0002129	92.73	gold quality
cerebellar hemisphere	UBERON:0002245	92.65	gold quality
substantia nigra pars compacta	UBERON:0001965	92.23	gold quality
cerebellum	UBERON:0002037	92.19	gold quality
prefrontal cortex	UBERON:0000451	91.95	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	91.75	gold quality
right hemisphere of cerebellum	UBERON:0014890	91.71	gold quality
Brodmann (1909) area 9	UBERON:0013540	90.85	gold quality
frontal cortex	UBERON:0001870	90.62	gold quality
cerebellar vermis	UBERON:0004720	90.27	gold quality
neocortex	UBERON:0001950	89.69	gold quality
cerebral cortex	UBERON:0000956	89.47	gold quality
ventral tegmental area	UBERON:0002691	89.19	gold quality
substantia nigra pars reticulata	UBERON:0001966	88.53	gold quality
right frontal lobe	UBERON:0002810	87.68	gold quality
temporal lobe	UBERON:0001871	86.90	gold quality
telencephalon	UBERON:0001893	86.69	gold quality
anterior cingulate cortex	UBERON:0009835	86.28	gold quality
cingulate cortex	UBERON:0003027	86.27	gold quality
superior vestibular nucleus	UBERON:0007227	85.98	gold quality
Ammon’s horn	UBERON:0001954	84.98	gold quality
brain	UBERON:0000955	83.27	gold quality
forebrain	UBERON:0001890	82.65	gold quality
dorsal plus ventral thalamus	UBERON:0001897	82.52	gold quality
central nervous system	UBERON:0001017	82.41	gold quality
nucleus accumbens	UBERON:0001882	81.02	gold quality
caudate nucleus	UBERON:0001873	80.67	gold quality
putamen	UBERON:0001874	79.55	gold quality
amygdala	UBERON:0001876	79.31	gold quality
cauda epididymis	UBERON:0004360	79.27	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.74	gold quality
ventricular zone	UBERON:0003053	78.58	gold quality
globus pallidus	UBERON:0001875	76.54	gold quality
cortical plate	UBERON:0005343	76.36	gold quality
inferior vagus X ganglion	UBERON:0005363	75.90	gold quality
corpus callosum	UBERON:0002336	75.12	gold quality
parietal pleura	UBERON:0002400	74.44	gold quality
hypothalamus	UBERON:0001898	73.24	gold quality
medulla oblongata	UBERON:0001896	72.92	gold quality
midbrain	UBERON:0001891	72.47	gold quality
medial globus pallidus	UBERON:0002477	72.33	gold quality
subthalamic nucleus	UBERON:0001906	72.30	gold quality
adult organism	UBERON:0007023	72.15	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	71.53	gold quality
pleura	UBERON:0000977	71.34	gold quality
substantia nigra	UBERON:0002038	71.28	gold quality
pericardium	UBERON:0002407	71.28	gold quality
paraflocculus	UBERON:0005351	71.01	gold quality
Brodmann (1909) area 46	UBERON:0006483	70.58	silver quality
middle frontal gyrus	UBERON:0002702	70.48	gold quality
mucosa of paranasal sinus	UBERON:0005030	70.25	gold quality
ganglionic eminence	UBERON:0004023	69.93	gold quality
corpus epididymis	UBERON:0004359	69.86	gold quality
synovial joint	UBERON:0002217	69.44	gold quality
lower lobe of lung	UBERON:0008949	69.25	silver quality
mucosa of urinary bladder	UBERON:0001259	68.02	gold quality
visceral pleura	UBERON:0002401	67.31	gold quality
germinal epithelium of ovary	UBERON:0001304	66.73	gold quality
right adrenal gland cortex	UBERON:0035827	66.60	gold quality
CA1 field of hippocampus	UBERON:0003881	65.97	gold quality
calcaneal tendon	UBERON:0003701	65.67	gold quality
layer of synovial tissue	UBERON:0007616	65.22	gold quality
hair follicle	UBERON:0002073	65.13	gold quality
colonic epithelium	UBERON:0000397	64.67	silver quality
embryo	UBERON:0000922	64.62	gold quality
adrenal cortex	UBERON:0001235	64.30	gold quality
left adrenal gland cortex	UBERON:0035825	63.81	gold quality
left adrenal gland	UBERON:0001234	63.62	gold quality
right adrenal gland	UBERON:0001233	63.47	gold quality
tongue squamous epithelium	UBERON:0006919	63.06	gold quality
oocyte	CL:0000023	62.75	gold quality
endometrium epithelium	UBERON:0004811	62.62	gold quality
rectum	UBERON:0001052	62.57	gold quality
adrenal gland	UBERON:0002369	62.51	gold quality
skin of hip	UBERON:0001554	61.56	gold quality
tibia	UBERON:0000979	61.47	gold quality
spleen	UBERON:0002106	61.45	gold quality
orbitofrontal cortex	UBERON:0004167	61.34	gold quality
Brodmann (1909) area 10	UBERON:0013541	60.97	gold quality
upper arm skin	UBERON:0004263	60.04	gold quality
caput epididymis	UBERON:0004358	60.00	gold quality
pigmented layer of retina	UBERON:0001782	59.92	silver quality
epithelium of nasopharynx	UBERON:0001951	59.38	gold quality
oviduct epithelium	UBERON:0004804	58.94	silver quality
lung	UBERON:0002048	58.91	gold quality
duodenum	UBERON:0002114	58.23	gold quality
tendon	UBERON:0000043	57.96	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-HCAD-35	yes	82.00
E-HCAD-25	yes	47.59
E-ANND-3	yes	6.13

HPA expression

RNA tissue specificity: Tissue enriched

showing 60 of 66 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Cerebral cortex	tissue	260.8	low
Occipital cortex	tissue	260.8
Postcentral gyrus	tissue	259.8
Somatosensory cortex	tissue	259.3
Motor cortex	tissue	216.5
Hippocampal formation	tissue	203.1
Entorhinal cortex	tissue	203.1
Retrosplenial and cingulate cortex	tissue	195.4
Prefrontal cortex	tissue	191.7
Temporal cortex	tissue	182.1
Retrosplenial cortex	tissue	162.2
Insular cortex	tissue	152.1
Cerebellum	tissue	137.9	high
Superior colliculi	tissue	125.3
Thalamus	tissue	121.5
Putamen	tissue	120.9
Ventral forebrain	tissue	110.6
Midbrain	tissue	106.9
Basal ganglia	tissue	95.7	not detected
Septum	tissue	90.2
Pons	tissue	75.7
Amygdala	tissue	74.8
Frontal cortex	tissue	67.6
Olfactory bulb	tissue	64.1
Caudate putamen	tissue	55.5
Hippocampus	tissue	54.1	not detected
Medulla oblongata	tissue	50.5
Nucleus accumbens	tissue	49.6
Hypothalamus	tissue	45.4
Substantia nigra	tissue	44.1
Periaqueductal gray	tissue	40.2
Locus coeruleus	tissue	25.8
Spinal cord	tissue	22.2
Corpus callosum	tissue	15.9
Retina	tissue	6.1
Choroid plexus	tissue	3.7
Epididymis	tissue	3.3	not detected
Spleen	tissue	2.2	not detected
Adrenal gland	tissue	2.1	not detected
Kidney	tissue	1.6	not detected
Duodenum	tissue	1.1	not detected
Rectum	tissue	1.0	not detected
Lung	tissue	0.8	not detected
Testis	tissue	0.6	not detected
Seminal vesicle	tissue	0.6	not detected
Colon	tissue	0.6	not detected
Stomach 1	tissue	0.5	not detected
Small intestine	tissue	0.5	not detected
Cervix	tissue	0.4	not detected
Pituitary gland	tissue	0.4
Adipose tissue	tissue	0.4	not detected
Tongue	tissue	0.4
Thyroid gland	tissue	0.4	not detected
Salivary gland	tissue	0.3	not detected
Fallopian tube	tissue	0.3	not detected
Placenta	tissue	0.2	not detected
Skin 1	tissue	0.1	not detected
Breast	tissue	0.1	not detected
Ovary	tissue	0.1	not detected
Parathyroid gland	tissue	0.1	not detected

Brain sub-regions (HPA Brain Atlas): detected in 189; highest nTPM — Cerebellar cortex (235.2), Vermis (204.8), Flocculonodular lobe (184.5), Postcentral gyrus, middle (170.2), Transversal temporal gyrus, anterior (161.5).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting GABRB2 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 363 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4425	100.00	67.59	1049
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-548P	99.98	72.25	3784
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-8068	99.98	73.85	2376

Functional genomics

gnomAD constraint: pLI 0.999, LOEUF 0.426, missense Z 4.1 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD)

ENST00000393959 splits into 6 regions with different missense tolerance; 2 are missense-constrained (≈37% of the expected missense variation). Missense variants in a constrained region (low observed/expected) are more likely to be pathogenic. gnomAD

Region (GRCh38)	Missense obs / exp	o/e	Constrained
5:161,294,084–161,330,952	201 / 228.1	0.88	no
5:161,330,953–161,336,644	25 / 137.4	0.18	yes (p 8.7e-22)
5:161,336,645–161,336,728	30 / 33.7	0.89	no
5:161,336,729–161,459,736	15 / 102.2	0.15	yes (p 6.5e-18)
5:161,459,737–161,546,387	42 / 99.7	0.42	no
5:161,546,388–161,546,643	42 / 43.0	0.98	no

Literature-anchored findings (GeneRIF, showing 40)

• This report indicates pronounced adaptive changes in the expression of these GABA(A) receptor subunits related to seizure activity and indicates altered assembly of GABA(A) receptors in temporal lobe epilepsy. (PMID:14503638)
• Properties of recombinant GABRAB2 receptor vary significantly from one expression system to another most likely due to differences in endogenous modulators. (PMID:14625018)
• Single nucleotide polymorphisms are associated with schizophrenia. (PMID:14699426)
• Two etomidate sites allosterically enhance GABA(A) receptor subunit gating independently of agonist binding. (PMID:15016806)
• extracellular domain models show subunit arrangement of GABA-A receptors (PMID:15033447)
• No significant difference in mRNA expression is found between the control and alcoholic case groups in either the superior frontal or motor cortex for the GABA A beta 2 isoform (PMID:15337300)
• Six Single Nucleotide Polymorphisms in GABRB2 were genotyped for a case-control association study with the cycloid psychosis subtype of Schizophrenia in the German population using two methods for SNP genotyping. (PMID:16472798)
• a conserved lysine in the TM2-3 of alpha1, beta2, and gamma2 of the GABA-A receptor has an asymmetric function in different GABAA subunits (PMID:16627470)
• Cross-population validation of GABRB2 association with schizophrenia has been obtained with JP and GE subjects, with the genotype-disease correlations being strongest in systematic schizophrenia, the most severe subtype of the disease. (PMID:16950232)
• Results do not support the hypothesis that genetic variation at the GABRB2 locus plays a major role in schizophrenic patients of european descent. (PMID:17167345)
• A cation-pi interaction between GABA and a tyrosine on loop A has been identified by unnatural amino acid mutagenesis, the first example of a cation-pi interaction with a loop A residue in a cysteine-loop neurotransmitter receptor. (PMID:17251430)
• study suggests that the GABRB2 and GAD1 genes individually, as well as the combined effects of the polymorphism in the GAD1, GAD2 and GABRB2 genes, are associated with schizophrenia in the Chinese population (PMID:17412563)
• Electrophysiological analysis showed that this long beta(2) isoform favored by the positive selections is more sensitive than the short isoform to the inhibition of GABA(A) receptor function by energy depletion (PMID:17520021)
• built homology models of the ion pores of alpha1beta2 and alpha1beta2gamma2 GABA(A)-R using coordinates of the nicotinic acetylcholine receptor as a template to determine details about the zinc binding site (PMID:18197653)
• Significant matching effects were found for polymorphisms at the DRD2, GABRA6 and GABRB2 gene. In addition, a trend was found for the OPRM1 polymorphism. (PMID:19523047)
• Report interaction of androsterone and progesterone with inhibitory ligand-gated ion channels: a patch clamp study. (PMID:19705103)
• Alternative-splicing in the exon-10 region of GABA(A) receptor beta(2) subunit gene may have a role in psychotic disorders (PMID:19763268)
• findings highlight the importance of GABRB2 in neuropsychiatric disease aetiology, with respect to haplotype association, as well as reduction of and temporal effects on gene expression in both schizophrenia and bipolar disorder (PMID:19909288)
• analysis of a recombination hotspot in a schizophrenia-associated region of GABRB2 (PMID:20221451)
• The results of this study pointed to the occurrence of imprinting in the GABRB2 gene and its possible role in the development of schizophrenia. (PMID:20404824)
• Glycosylation of {beta}2 subunits regulates GABAA receptor biogenesis and channel gating. (PMID:20639197)
• The ratios of beta(3)/beta(2) and alpha(5)/alpha(1) subunit protein expression in Angelman syndrome cortex were significantly decreased when compared with controls. (PMID:20692323)
• mRNA expression of Gaba(A)beta2 receptor subunit, which preferentially assembles with alpha1 receptor subunits, is also 20% lower in layers 3 and 4 of the dorsolateral prefrontal cortex. (PMID:20843900)
• GABRA receptor beta2 subunit is not involved in amygdala hyperexcitability of patients with temporal lobe epilepsy. (PMID:20848605)
• A novel pol III-dependent non-coding RNA that regulates alternative splicing events and possibly neurodegeneration induced by abnormal GABA B function. (PMID:20888417)
• beta2Asp163 and alpha1Arg120 form a state-dependent salt bridge, interacting when GABA is bound to the receptor but not when the receptor is in the unbound state. (PMID:21209255)
• significant involvement of alpha (GABRA6) and beta (GABRB2) subunits of GABA(A) receptor in epilepsy susceptibility in north Indian population (PMID:21420396)
• Drugs of abuse directly modulate activity of human alpha(1)beta(2)gamma(2) GABA(A) receptor. (PMID:21729720)
• 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)
• we identified an even stronger coupling between the two aromatics and for the first time provided direct evidence for the involvement of beta in GABA (PMID:21806616)
• This study demonistrated that GABRB2 expression was under epigenetic regulation that varied with development, genotype and disease status, and these regulatory mechanisms were observably disrupted in SCZ and BPD. (PMID:22206711)
• Mutation of GABA receptor beta2 subunit tyrosine residues in the binding pocket shifts the GABA concentration-response curve; GABA binding rates are reduced by mutation to binding pocket tyrosines. (PMID:23121119)
• Report additive inhibition of human alpha1beta2gamma2 GABAA receptors by mixtures of commonly used drugs of abuse. (PMID:23266428)
• Presented is a full-length alpha(1)beta(2)gamma(2) GABA(A) receptor model optimized for agonists and benzodiazepine allosteric modulators. (PMID:23308109)
• high expression of GABBR2 with a low expression of GABR(A3) may predict a better outcome in non-small cell lung cancer (PMID:23617850)
• These findings revealed that GABRB2 is associated with psychosis, the core symptom and an endophenotype of schizophrenia. (PMID:23638040)
• This study demonstrates altered patterns of N-glycosylation of GABRB2 in the temporal lobe in schizophrenia. (PMID:23917429)
• Our findings underscore the need for further investigation into the mechanisms by which mutations in GABRB2 contribute to neurological and developmental dysfunction. (PMID:25124326)
• 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)
• Deletion of the N-terminal extension and putative alpha-helix in heteromeric alpha1beta2gamma2 GABAA receptors in the beta2 subunit affected GABA sensitivity and desensitization. (PMID:26016529)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	gabrb2a	ENSDARG00000079586
danio_rerio		ENSDARG00000100032
mus_musculus	Gabrb2	ENSMUSG00000007653
rattus_norvegicus	Gabrb2	ENSRNOG00000003680

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), GLRA1 (ENSG00000145888), GABRR1 (ENSG00000146276), CHRNB3 (ENSG00000147432), CHRNA6 (ENSG00000147434), HTR3B (ENSG00000149305), GABRA2 (ENSG00000151834), CHRNB2 (ENSG00000160716), GABRG1 (ENSG00000163285), GABRB1 (ENSG00000163288), GABRB3 (ENSG00000166206), CHRFAM7A (ENSG00000166664), HTR3A (ENSG00000166736), CHRNA5 (ENSG00000169684), CHRNB1 (ENSG00000170175), CHRNA9 (ENSG00000174343), CHRNA7 (ENSG00000175344), HTR3C (ENSG00000178084), GABRG3 (ENSG00000182256), GABRR3 (ENSG00000183185), HTR3E (ENSG00000186038), HTR3D (ENSG00000186090), GABRA5 (ENSG00000186297), ZACN (ENSG00000186919), GABRD (ENSG00000187730), CHRNG (ENSG00000196811), GABRQ (ENSG00000268089)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:95620) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 13 distinct phenotype terms.

Mouse phenotype (MP)	Records
abnormal cochlea morphology	1
increased exploration in new environment	1
cochlear ganglion degeneration	1
abnormal GABA-mediated receptor currents	1
abnormal spiral limbus morphology	1
cochlear inner hair cell degeneration	1
cochlear outer hair cell degeneration	1
type IV spiral ligament fibrocyte degeneration	1
abnormal cochlear OHC efferent innervation pattern	1
abnormal distortion product otoacoustic emission	1
sensorineural hearing loss	1
increased or absent threshold for auditory brainstem response	1
decreased auditory brainstem response wave amplitude	1

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Macaca mulatta	D1LYT2	100.0%	Diamond
Drosophila melanogaster	P25123	99.8%	Diamond
Bos taurus	P57695	99.8%	Diamond
Macaca fascicularis	Q4R534	99.8%	Diamond
Pongo abelii	Q5RCC5	99.8%	Diamond
Drosophila simulans	Q9BLY8	99.8%	Diamond
Gallus gallus	P19150	96.9%	Diamond
Musca domestica	Q75NA5	84.3%	Diamond
Haemonchus contortus	P91730	81.4%	Diamond
Caenorhabditis elegans	Q17328	81.4%	Diamond
Lymnaea stagnalis	P26714	58.6%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
LINC01202	ncRNA	104326188
GABRA1-AS1	ncRNA	105377696
GABRA6-AS1	ncRNA	132532400
GABRA1	protein-coding	2554
GABRA6	protein-coding	2559
ATP10B	protein-coding	23120
LINC02159	ncRNA	285629
MIR3142HG	ncRNA	107075116
MIR146A	ncRNA	406938

Protein

Protein identifiers

Gamma-aminobutyric acid receptor subunit beta-2 — P47870 (reviewed: P47870)

Alternative names: GABA(A) receptor subunit beta-2

All UniProt accessions (6): A0A6Q8PFU0, A0A6Q8PGD9, A0A6Q8PGT5, B7Z279, E7EV50, P47870

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 GABA active binding site(s) located at the alpha and beta subunit interface(s). 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. GABAARs containing alpha-1 and beta-2 or -3 subunits exhibit synaptogenic activity; the gamma-2 subunit being necessary but not sufficient to induce rapid synaptic contacts formation. Extrasynaptic beta-2 receptors contribute to the tonic GABAergic inhibition. 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. Interacts with UBQLN1. May interact with KIF21B. Identified in a complex of 720 kDa composed of LHFPL4, NLGN2, GABRA1, GABRB2, GABRG2 and GABRB3.

Subcellular location. Postsynaptic cell membrane. Cell membrane. Cytoplasmic vesicle membrane.

Tissue specificity. Isoform 1 and isoform 2 show reduced expression in schizophrenic brain. Isoform 3 shows increased expression in schizophrenic and bipolar disorder brains while isoform 4 shows reduced expression.

Disease relevance. Epileptic encephalopathy, infantile or early childhood, 2 (IECEE2) [MIM:617829] A form of epileptic encephalopathy, a heterogeneous group of severe childhood 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. IECEE2 is an autosomal dominant condition with variable age at seizure onset, ranging from early infancy to 6 years. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. Allosterically activated by benzodiazepines. Allosterically activated by the anesthetic etomidate. Inhibited by the antagonist bicuculline. Potentiated by histamine.

Domain organisation. The extracellular domain contributes to synaptic contact formation. 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. GABRB2 sub-subfamily.

Isoforms (4)

UniProt ID	Names	Canonical?
P47870-2	1, Long, Beta-2L	yes
P47870-1	2, Short, Beta-2S
P47870-3	3, Beta-2S1
P47870-4	4, Beta-2S2

RefSeq proteins (3): NP_000804, NP_001358656, NP_068711 (=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)

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

UniProt features (72 total): strand 15, helix 12, sequence variant 9, turn 7, splice variant 6, topological domain 5, binding site 5, transmembrane region 4, glycosylation site 3, signal peptide 1, chain 1, modified residue 1, disulfide bond 1, mutagenesis site 1, sequence conflict 1

Structure

Experimental structures (PDB)

showing 30 of 31 structures by resolution:

PDB	Title	Method	Resolution (Å)
6X3T	Human GABAA receptor alpha1-beta2-gamma2 subtype in complex with GABA plus propofol	ELECTRON MICROSCOPY	2.55
8VRN	Human GABAA receptor alpha1-beta2-gamma2 subtype in complex with GABA plus PPTQ	ELECTRON MICROSCOPY	2.57
8SGO	Human GABAA receptor alpha1-beta2-gamma2 subtype in complex with GABA plus pregnenolone …	ELECTRON MICROSCOPY	2.65
8SID	Human GABAA receptor alpha1-beta2-gamma2 subtype in complex with GABA plus …	ELECTRON MICROSCOPY	2.71
8VQY	Human GABAA receptor alpha1-beta2-gamma2 subtype in complex with GABA plus methaqualone	ELECTRON MICROSCOPY	2.82
6X40	Human GABAA receptor alpha1-beta2-gamma2 subtype in complex with GABA plus picrotoxin	ELECTRON MICROSCOPY	2.86
8DD2	Human GABAA receptor alpha1-beta2-gamma2 subtype in complex with GABA plus Zolpidem	ELECTRON MICROSCOPY	2.9
8DD3	Human GABAA receptor alpha1-beta2-gamma2 subtype in complex with GABA plus DMCM	ELECTRON MICROSCOPY	2.9
9CRS	Native human GABAA receptor of beta2-alpha1-beta2-alpha1-gamma2 assembly	ELECTRON MICROSCOPY	2.9
6X3X	Human GABAA receptor alpha1-beta2-gamma2 subtype in complex with GABA plus diazepam	ELECTRON MICROSCOPY	2.92
9DRX	Human GABAA receptor of beta2-alpha1-beta2-alpha1-gamma2 subtype in complex with GABA …	ELECTRON MICROSCOPY	2.95
8SI9	Human GABAA receptor alpha1-beta2-gamma2 subtype in complex with GABA plus …	ELECTRON MICROSCOPY	2.98
7T0W	Complex of GABA-A synaptic receptor with autoimmune antibody Fab115	ELECTRON MICROSCOPY	3
7T0Z	Complex of GABA-A synaptic receptor with autoimmune antibody Fab175	ELECTRON MICROSCOPY	3
9CXA	Native human GABAA receptor of beta2-alpha1-beta3-alpha1-gamma2 assembly	ELECTRON MICROSCOPY	3.04
6X3S	Human GABAA receptor alpha1-beta2-gamma2 subtype in complex with bicuculline methbromide	ELECTRON MICROSCOPY	3.12
9CRV	Native human GABAA receptor of beta2-alpha1-gamma2-beta2-alpha2 assembly	ELECTRON MICROSCOPY	3.18
9CT0	Native human GABAA receptor of beta2-alpha1-beta2-alpha2-gamma2 assembly	ELECTRON MICROSCOPY	3.19
6X3Z	Human GABAA receptor alpha1-beta2-gamma2 subtype in complex with GABA	ELECTRON MICROSCOPY	3.23
6X3W	Human GABAA receptor alpha1-beta2-gamma2 subtype in complex with GABA plus phenobarbital	ELECTRON MICROSCOPY	3.3
9CXC	Native human GABAA receptor of beta3-alpha1-gamma2-beta2-alpha2 assembly	ELECTRON MICROSCOPY	3.3
9CXB	Native human GABAA receptor of beta2-alpha1-beta1-alpha2-gamma2 assembly	ELECTRON MICROSCOPY	3.33
9CSB	Native human GABAA receptor of beta3-alpha1-beta2-alpha2-gamma2 assembly	ELECTRON MICROSCOPY	3.34
9CTV	Native human GABAA receptor of beta2-alpha1-gamma2-beta1-alpha2 assembly	ELECTRON MICROSCOPY	3.36
9CXD	Native human GABAA receptor of beta2-alpha1-beta1-beta1-gamma2 assembly	ELECTRON MICROSCOPY	3.36
6X3U	Human GABAA receptor alpha1-beta2-gamma2 subtype in complex with GABA plus flumazenil	ELECTRON MICROSCOPY	3.5
6X3V	Human GABAA receptor alpha1-beta2-gamma2 subtype in complex with GABA plus etomidate	ELECTRON MICROSCOPY	3.5
9CTP	Native human GABAA receptor of beta2-alpha1-beta2-alpha3-gamma2 assembly	ELECTRON MICROSCOPY	3.62
9CTJ	Native human GABAA receptor of beta2-alpha1-beta3-alpha2-gamma2 assembly	ELECTRON MICROSCOPY	3.74
6D6T	Human GABA-A receptor alpha1-beta2-gamma2 subtype in complex with GABA and flumazenil …	ELECTRON MICROSCOPY	3.86

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P47870-F1	76.65	0.55

Antibody-complex structures (SAbDab)

29 antibodies co-crystallized with this protein: 6D6T, 6D6U, 6X3S, 6X3T, 6X3U, 6X3V, 6X3W, 6X3X, 6X3Z, 6X40, 7T0W, 7T0Z, 8DD2, 8DD3, 8SGO, 8SI9, 8SID, 8VQY, 8VRN, 9CRS, 9CRV, 9CT0, 9CTJ, 9CTP, 9CTV (+4 more)

Human Protein Atlas

Protein class: Transporters, Transporter channels and pores, Predicted membrane proteins, Disease related genes, FDA approved drug targets, Small molecule drugs, Human disease related genes, Epilepsy

Protein evidence: Evidence at protein level

Antibody reliability (HPA): IH enhanced

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)

Position	Role
121	histamine
180–181	histamine
181	4-aminobutanoate
226	4-aminobutanoate
226	histamine

Post-translational modifications (1)

Type	Positions
Phosphotyrosine	441

Disulfide bonds (1)

Type	Positions
Disulfide bond	160–174

Glycosylation sites (3)

Type	Positions
N-linked (glcnac…) asparagine	32, 104, 173

Mutagenesis-validated functional residues (1)

Position	Phenotype
389	displays reduced current rundown following repeated receptor activation.

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 7; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

7 pathways:

ID	Pathway	Evidence
R-HSA-977443	GABA receptor activation	electronic
R-HSA-112316	Neuronal System	—
R-HSA-112314	Neurotransmitter receptors and postsynaptic signal transmission	—
R-HSA-162582	Signal Transduction	—
R-HSA-1236394	Signaling by ERBB4	electronic
R-HSA-9006934	Signaling by Receptor Tyrosine Kinases	—
R-HSA-112315	Transmission across Chemical Synapses	—

MSigDB gene sets: 420 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_DN, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_EPITHELIUM_DEVELOPMENT, BENPORATH_ES_WITH_H3K27ME3, TGCGCANK_UNKNOWN, GOBP_SYNAPSE_ASSEMBLY, MORF_BRCA1, ASTON_MAJOR_DEPRESSIVE_DISORDER_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GCAAGGA_MIR502, GOBP_INORGANIC_ANION_TRANSPORT, GOBP_GAMMA_AMINOBUTYRIC_ACID_SIGNALING_PATHWAY, GOBP_NEUROGENESIS, MEF2_02, MORF_RAD51L3

GO Biological Process (16): gamma-aminobutyric acid signaling pathway (GO:0007214), chemical synaptic transmission (GO:0007268), negative regulation of synaptic transmission, GABAergic (GO:0032229), synaptic transmission, GABAergic (GO:0051932), inner ear receptor cell development (GO:0060119), innervation (GO:0060384), cellular response to histamine (GO:0071420), cochlea development (GO:0090102), extrasynaptic signaling via GABA (GO:0160001), chloride transmembrane transport (GO:1902476), inhibitory synapse assembly (GO:1904862), monoatomic ion transport (GO:0006811), chloride transport (GO:0006821), monoatomic ion transmembrane transport (GO:0034220), neuron development (GO:0048666), regulation of postsynaptic membrane potential (GO:0060078)

GO Molecular Function (9): GABA-A receptor activity (GO:0004890), chloride channel activity (GO:0005254), GABA-gated chloride ion channel activity (GO:0022851), 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), GABA receptor activity (GO:0016917), signaling receptor activity (GO:0038023)

GO Cellular Component (13): plasma membrane (GO:0005886), cytoplasmic vesicle membrane (GO:0030659), chloride channel complex (GO:0034707), dendritic spine (GO:0043197), postsynaptic membrane (GO:0045211), extracellular exosome (GO:0070062), GABA-ergic synapse (GO:0098982), postsynaptic specialization membrane (GO:0099634), GABA-A receptor complex (GO:1902711), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410), synapse (GO:0045202), synaptic membrane (GO:0097060)

Reactome top-level categories

5 top-level categories:

Category	Pathways
Signaling by Receptor Tyrosine Kinases	1
Neurotransmitter receptors and postsynaptic signal transmission	1
Transmission across Chemical Synapses	1
Neuronal System	1
Signal Transduction	1

GO top-level categories

58 GO namespaces:

Category	Terms
GABA receptor activity	2
transmitter-gated monoatomic ion channel activity	2
postsynapse	2
synaptic membrane	2
synapse	2
cell-cell signaling	1
anterograde trans-synaptic signaling	1
regulation of synaptic transmission, GABAergic	1
negative regulation of synaptic transmission	1
synaptic transmission, GABAergic	1
chemical synaptic transmission	1
neuron development	1
inner ear receptor cell differentiation	1
nerve development	1
multicellular organismal process	1
response to histamine	1
cellular response to nitrogen compound	1
inner ear development	1
animal gross anatomical part developmental process	1
gamma-aminobutyric acid signaling pathway	1
chloride transport	1
monoatomic anion transmembrane transport	1
synapse assembly	1
transport	1
monoatomic anion transport	1
inorganic anion transport	1
monoatomic ion transport	1
transmembrane transport	1
neuron differentiation	1
cell development	1
regulation of membrane potential	1
monoatomic anion channel activity	1
chloride transmembrane transporter activity	1
chloride channel activity	1
ligand-gated monoatomic anion channel activity	1
regulation of postsynaptic membrane potential	1
signaling receptor activity	1
monoatomic ion transmembrane transporter activity	1
channel activity	1
ligand-gated monoatomic ion channel activity	1
transmembrane signaling receptor activity	1
molecular transducer activity	1
membrane	1
cell periphery	1
vesicle membrane	1
cytoplasmic vesicle	1
monoatomic ion channel complex	1
dendrite	1
neuron spine	1
extracellular vesicle	1
postsynaptic membrane	1
postsynaptic specialization	1
GABA receptor complex	1
cellular anatomical structure	1
cytoplasm	1
intracellular vesicle	1
cell junction	1
plasma membrane region	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 7 of 38 annotations. The rest are phylogenetic / computational / electronic (IEA).

7 experimentally-supported GO terms:

GO term	NS	Evidence
chloride transmembrane transport	BP	direct assay
gamma-aminobutyric acid signaling pathway	BP	direct assay
inhibitory synapse assembly	BP	direct assay
dendritic spine	CC	direct assay
extracellular exosome	CC	high-throughput assay
plasma membrane	CC	direct assay
postsynaptic membrane	CC	direct assay

Protein interactions and networks

STRING

showing 15 of 1,616 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GABRB2	ALDH5A1	P51649	797
GABRB2	GAD1	Q99259	656
GABRB2	TRAK2	O60296	623
GABRB2	HTR2A	P28223	590
GABRB2	DRD3	P35462	585
GABRB2	DTNBP1	Q96EV8	584
GABRB2	DAOA	P59103	578
GABRB2	DRD4	P21917	571
GABRB2	SCN1A	P35498	568
GABRB2	SLC6A1	P30531	566
GABRB2	CLINT1	Q14677	566
GABRB2	DRD1	P21728	548
GABRB2	PPP3CC	P48454	545
GABRB2	SCN1B	Q07699	540
GABRB2	GABBR2	O75899	534

IntAct

Human interaction partners of GABRB2 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

1 partners by confidence:

Partner	Interaction type	MIscore	Records
GABRB3	association	0.350	1

BioGRID (19 interactions; top human partners by supporting records): TRAK2 (Two-hybrid; 3 records), ARHGEF25 (Affinity Capture-MS; 2 records), GABRA1 (Affinity Capture-Western; 2 records), GABRB3 (Affinity Capture-MS; 2 records), UBQLN1 (Affinity Capture-Western; 2 records), ATF4 (Cross-Linking-MS (XL-MS)), CLPB (Affinity Capture-MS), DYNC1H1 (Affinity Capture-MS), HUWE1 (Affinity Capture-MS), PRNP (Affinity Capture-MS), TP53 (Affinity Capture-MS), TTN (Cross-Linking-MS (XL-MS)), UGGT1 (Affinity Capture-MS)

SIGNOR signaling

3 signaling interactions:

A	Effect	B	Mechanism
AKT	“up-regulates activity”	GABRB2	phosphorylation
GABRB2	“form complex”	“GABA-A (a4-b2-d) receptor”	binding
GABRB2	“form complex”	“GABA-A (a6-b2-d) receptor”	binding

Protein complexes (CORUM) (2)

Experimentally-characterized complexes this protein is a subunit of (★ = the complex contains a known drug target).

2 complexes by size:

Complex	Subunits	Members
★ GABA-A receptor (GABRA1, GABRB2, GABRG2)	3	GABRA1, GABRB2, GABRG2
★ GABA-A receptor (GABRA1, GABRB2, GABRD)	3	GABRA1, GABRB2, GABRD

Ligand–receptor pairs (CellPhoneDB) (4)

Curated ligand–receptor partners (cell-cell communication), distinct from the protein–protein interactions above.

4 ligand–receptor pairs:

Partner	This gene’s role	Signaling class
GABRA1;GABRB2;GABRD		Signaling by GABA
GABRA1;GABRB2;GABRG2		Signaling by GABA
GABRA1;GABRB2		Signaling by GABA
GABRA4;GABRB2;GABRD		Signaling by GABA

Disease & clinical

Genetic variants

Variant evidence for GABRB2: 656 ClinVar records (53 pathogenic / likely pathogenic); 6 GWAS associations. Per-variant detail is on Sugi Variant.

ClinVar

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

Classification	Count (floor)
Pathogenic	17
Likely pathogenic	36
Uncertain significance	225
Likely benign	250
Benign	64

Top pathogenic / likely-pathogenic (15)

Showing the 15 best-reviewed of 53 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.

Variant ID	HGVS	Classification	Review	Submitters
2201161	NM_001371727.1(GABRB2):c.373G>A (p.Asp125Asn)	Pathogenic	criteria provided, multiple submitters, no conflicts	4
421916	NM_001371727.1(GABRB2):c.863T>C (p.Ile288Thr)	Likely pathogenic	criteria provided, multiple submitters, no conflicts	2
1338859	NM_001371727.1(GABRB2):c.754C>T (p.Pro252Ser)	Likely pathogenic	criteria provided, multiple submitters, no conflicts	2
487683	NM_001371727.1(GABRB2):c.830T>C (p.Leu277Ser)	Pathogenic	criteria provided, single submitter	2
972959	NM_001371727.1(GABRB2):c.910G>A (p.Ala304Thr)	Pathogenic	criteria provided, single submitter	2
265165	NM_001371727.1(GABRB2):c.845T>C (p.Val282Ala)	Pathogenic	criteria provided, single submitter	1
418957	NM_001371727.1(GABRB2):c.737T>C (p.Ile246Thr)	Pathogenic	criteria provided, single submitter	1
451524	NM_001371727.1(GABRB2):c.899C>T (p.Pro300Leu)	Pathogenic	criteria provided, single submitter	1
647339	NM_001371727.1(GABRB2):c.895A>T (p.Ile299Phe)	Pathogenic	criteria provided, single submitter	1
1057864	NM_001371727.1(GABRB2):c.755C>T (p.Pro252Leu)	Pathogenic	criteria provided, single submitter	1
1197740	NM_001371727.1(GABRB2):c.992T>C (p.Phe331Ser)	Pathogenic	criteria provided, single submitter	1
1392511	NM_001371727.1(GABRB2):c.981C>G (p.Asn327Lys)	Pathogenic	criteria provided, single submitter	1
2734811	NM_001371727.1(GABRB2):c.878G>C (p.Arg293Pro)	Pathogenic	criteria provided, single submitter	1
3893240	NM_001371727.1(GABRB2):c.542A>T (p.Tyr181Phe)	Pathogenic	criteria provided, single submitter	1
4531980	NM_001371727.1(GABRB2):c.486G>A (p.Met162Ile)	Pathogenic	criteria provided, single submitter	1

Per-variant reference — Sugi Variant

Explore GABRB2’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 26 predictions of 713):

Position(s)	Effect	Δscore	Sites
5:161294429–161294430	acceptor_loss	1.0000	4
5:161331128–161331129	acceptor_loss	1.0000	3
5:161459622–161459623	donor_loss	1.0000	5
5:161459845	acceptor_loss	1.0000	2
5:161459853	acceptor_gain	1.0000
5:161545225–161545226	donor_loss	1.0000	3
5:161545295–161545296	acceptor_loss	1.0000	4
5:161546566	donor_loss	1.0000	2
5:161294430	acceptor_loss	0.9900
5:161294433	acceptor_gain	0.9900

AlphaMissense

1,945 missense substitutions predicted likely pathogenic (of 3,387 scored), across 374 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
M79	9	0.986	1.000
M162	9	0.983	1.000
M285	9	0.977	1.000
M139	9	0.966	0.999
M310	9	0.906	0.999
M64	9	0.894	0.999
D93	8	0.999	1.000
D108	8	0.999	1.000
D119	8	0.999	1.000
H131	8	0.999	1.000
N137	8	0.999	1.000
D170	8	0.999	1.000
D306	8	0.999	1.000
D488	8	0.999	1.000
D48	8	0.998	1.000
F264	8	0.998	1.000
D80	8	0.997	1.000
D125	8	0.997	1.000
F317	8	0.997	1.000
D187	8	0.996	0.999

HPA cancer prognostics

RNA cancer specificity: Cancer enriched (Thyroid Carcinoma)

Disease associations

OMIM: gene MIM:600232 | disease phenotypes: MIM:617829

GenCC curated gene-disease

2 curated gene-disease records:

Disease	Classification	Inheritance	Records
developmental and epileptic encephalopathy 92	Definitive	Autosomal dominant	4
undetermined early-onset epileptic encephalopathy	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity

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

1 validity classifications:

Disease	Classification	Inheritance
complex neurodevelopmental disorder	Definitive	AD

Genomics England panels (PanelApp)

Clinical diagnostic gene panels including this gene (8 panels, 7 green/diagnostic-grade). Confidence: green = diagnostic, amber = moderate.

8 panels:

Panel	Rating
DDG2P	green
Early onset or syndromic epilepsy	green
Hypotonic infant	green
Intellectual disability	green
Leukodystrophy, childhood onset	green
Paediatric disorders	green
Unexplained death in infancy and sudden unexplained death in childhood	green
Fetal anomalies	amber

Mondo (3): intellectual disability (MONDO:0001071), developmental and epileptic encephalopathy 92 (MONDO:0020631), undetermined early-onset epileptic encephalopathy (MONDO:0018614)

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

HPO phenotypes

58 phenotypes (HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000252	Microcephaly
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:0000717	Autism
HP:0000750	Delayed speech and language development
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001251	Ataxia
HP:0001254	Lethargy
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
HP:0001290	Generalized hypotonia
HP:0001298	Encephalopathy
HP:0001315	Diminished deep tendon reflex
HP:0001332	Dystonia
HP:0001336	Myoclonus
HP:0001337	Tremor
HP:0001344	Absent speech
HP:0001508	Failure to thrive
HP:0001558	Decreased fetal movement
HP:0002020	Gastroesophageal reflux
HP:0002059	Cerebral atrophy
HP:0002063	Rigidity
HP:0002133	Status epilepticus
HP:0002317	Unsteady gait
HP:0002353	EEG abnormality
HP:0002376	Developmental regression
HP:0002421	Poor head control
HP:0002509	Limb hypertonia
HP:0002521	Hypsarrhythmia
HP:0002540	Inability to walk
HP:0003828	Variable expressivity
HP:0004305	Involuntary movements
HP:0004322	Short stature
HP:0005484	Secondary microcephaly
HP:0007018	Attention deficit hyperactivity disorder
HP:0010844	EEG with multifocal slow activity
HP:0011443	Abnormality of coordination
HP:0011968	Feeding difficulties
HP:0012444	Brain atrophy
HP:0012447	Abnormal myelination
HP:0012547	Abnormal involuntary eye movements
HP:0100660	Dyskinesia
HP:0100704	Cerebral visual impairment
HP:0100710	Impulsivity
HP:0200134	Epileptic encephalopathy

GWAS associations

6 associations:

Study	Trait	p-value
GCST012332_30	Multisite chronic pain	8e-10
GCST008512_15	Multisite chronic pain	5e-8
GCST008768_3	Perceived intensity of sweet substances	4e-6
GCST005713_2	Plasma neurofilament light levels	7e-6
GCST010105_52	Nicotine dependence symptom count	7e-6
GCST012189_8	Systolic blood pressure and diastolic blood pressure (bivariate analysis)	8e-6

EFO canonical traits (from GWAS)

4 canonical traits:

EFO ID	Trait name
EFO:0010100	multisite chronic pain
EFO:0009262	nicotine dependence symptom count
EFO:0006335	systolic blood pressure
EFO:0006336	diastolic blood pressure

MeSH disease descriptors

1 disease descriptors:

Descriptor	Name	Tree numbers
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (17): CHEMBL1907597 (PROTEIN COMPLEX), CHEMBL1920 (SINGLE PROTEIN), CHEMBL2093872 (PROTEIN COMPLEX GROUP), CHEMBL2095172 (PROTEIN COMPLEX), CHEMBL2109244 (PROTEIN COMPLEX GROUP), CHEMBL2111339 (PROTEIN COMPLEX), CHEMBL2111370 (PROTEIN COMPLEX), CHEMBL2111413 (PROTEIN COMPLEX), CHEMBL3885571 (PROTEIN COMPLEX), CHEMBL3885572 (PROTEIN COMPLEX)

Drugs acting on a complex or family that includes this protein

Curated ChEMBL mechanism-of-action drugs whose target is a protein complex or family of ≤10 members that includes GABRB2 — the drug acts on the assembly or class, not necessarily on this subunit alone.

1 drugs via a complex or family:

Drug	Target (ChEMBL)	Members	Max phase
ZOPICLONE	GABA-A receptor; agonist GABA site	9	4

Molecules with ChEMBL bioactivity

Phase ≥1, by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 603,890 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

47 molecules by phase:

Molecule	Name	Phase	Patents
CHEMBL661	ALPRAZOLAM	4	131,051
CHEMBL3183409	APALUTAMIDE	4	4,347
CHEMBL3187365	ASENAPINE	4	146
CHEMBL639	AZELASTINE	4	16,951
CHEMBL297302	BENPERIDOL	4	3,436
CHEMBL207538	BREXANOLONE	4	1,647
CHEMBL1014	CANDESARTAN CILEXETIL	4	11,240
CHEMBL190461	CANNABIDIOL	4	27,105
CHEMBL515	CHLORAMBUCIL	4	173,945
CHEMBL452	CLONAZEPAM	4	33,611
CHEMBL42	CLOZAPINE	4	37,868
CHEMBL601719	CRIZOTINIB	4	15,133
CHEMBL12	DIAZEPAM	4	92,923
CHEMBL1082407	ENZALUTAMIDE	4	10,210
CHEMBL1106	EPINASTINE	4	8,600
CHEMBL1522	ESZOPICLONE	4	6,627
CHEMBL681	ETOMIDATE	4	8,520
CHEMBL407	FLUMAZENIL	4	7,208
CHEMBL13280	FLUNITRAZEPAM	4	11,627
CHEMBL1568698	GANAXOLONE	4	1,695
CHEMBL146095	GLAFENINE	4
CHEMBL1544	LIOTHYRONINE	4
CHEMBL448	PENTOBARBITAL	4
CHEMBL526	PROPOFOL	4
CHEMBL1064	SIMVASTATIN	4
CHEMBL1983350	STIRIPENTOL	4
CHEMBL222559	TIPRANAVIR	4
CHEMBL408	TROGLITAZONE	4
CHEMBL1521	ZALEPLON	4
CHEMBL911	ZOLPIDEM	4
CHEMBL4105630	ZURANOLONE	4
CHEMBL312443	GABOXADOL	3
CHEMBL265502	SURAMIN	3
CHEMBL41632	TIRATRICOL	3
CHEMBL454095	ABECARNIL	2
CHEMBL190279	ALFAXALONE	2
CHEMBL8260	BAICALEIN	2
CHEMBL3647536	DARIGABAT	2
CHEMBL268254	DELORAZEPAM	2
CHEMBL275638	FLAVONE	2
CHEMBL279867	PANADIPLON	2
CHEMBL43185	PIPERINE	2
CHEMBL287631	PROGABIDE	2
CHEMBL73416	SARIPIDEM	2
CHEMBL285802	ZOTEPINE	2
CHEMBL96	GAMMA-AMINOBUTYRIC ACID	1
CHEMBL273481	MUSCIMOL	1

PharmGKB: 1 entry (CPIC guideline: no)

GtoPdb / IUPHAR curated pharmacology

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

Target class: lgic — GABA_A receptors

Binding affinities (BindingDB)

735 measured of 820 human assays (842 total across all organisms); most potent 50 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value	Patent
PHENAZEPAM	KI	0.05 nM
CHEMBL487686	KI	0.12 nM
CHEMBL469477	KI	0.12 nM
CHEMBL488283	KI	0.12 nM
CHEMBL487687	KI	0.14 nM
[3-(5-Cyclopropyl-[1,2,4]oxadiazol-3-yl)-6-fluoro-4H-imidazo[1,5-a]quinoxalin-5-yl]-morpholin-4-yl-methanone	KI	0.17 nM
[7-Chloro-3-(5-cyclopropyl-[1,2,4]oxadiazol-3-yl)-4H-imidazo[1,5-a]quinoxalin-5-yl]-morpholin-4-yl-methanone	KI	0.22 nM
CHEMBL3274851	KI	0.26 nM
6-Benzyl-4-oxo-1,4-dihydroquinoline-3-carboxylic Acid EthylEster	KI	0.27 nM
[3-(5-Cyclopropyl-[1,2,4]oxadiazol-3-yl)-4H-imidazo[1,5-a]quinoxalin-5-yl]-phenyl-methanone	KI	0.3 nM
[3-(5-Cyclopropyl-[1,2,4]oxadiazol-3-yl)-7-fluoro-4H-imidazo[1,5-a]quinoxalin-5-yl]-morpholin-4-yl-methanone	KI	0.3 nM
CHEMBL471551	KI	0.38 nM
CHEMBL487685	KI	0.39 nM
6-[[3-(5-chloro-2-pyridinyl)-5-methyl-1,2-oxazol-4-yl]methoxy]-N-(oxan-4-yl)pyridazine-3-carboxamide	KI	0.4 nM	US-20240279218: ISOXAZOLYL ETHER DERIVATIVES AS GABA A ALPHA5 PAM
CHEMBL2348441	KI	0.45 nM
CHEMBL1451229	KI	0.5 nM
CHEMBL520411	KI	0.51 nM
CHEMBL488284	KI	0.53 nM
CHEMBL4476621	IC50	0.6 nM
Halcion	KI	0.68 nM
CHEMBL487688	KI	0.88 nM
CHEMBL470283	KI	0.97 nM
N-[2-(4-Chloro-phenyl)-imidazo[1,2-a]pyridin-3-ylmethyl]-N-methyl-butyramide	IC50	1.1 nM
CHEMBL5170217	KI	1.6 nM
3-(5-Cyclopropyl-[1,2,4]oxadiazol-3-yl)-4H-imidazo[1,5-a]quinoxaline-5-carboxylic acid dimethylamide	KI	1.7 nM
N-(2-methoxybenzyl)-N-(4-phenoxypyridin-3-yl)acetamide	KI	2.2 nM
(7S)-9-(2,6-difluorophenyl)-3,7-dimethyl-16-thia-2,4,5,8-tetrazatetracyclo[8.6.0.02,6.011,15]hexadeca-1(10),3,5,8,11(15)-pentaene	KI	2.59 nM	US-20240190889: NEW CYCLOPENTA-THIENO-DIAZEPINE DERIVATIVES AS GABA A GAMMA1 POSITIVE ALLOSTERIC MODULATORS
1-[3-(5-Cyclopropyl-[1,2,4]oxadiazol-3-yl)-4H-imidazo[1,5-a]quinoxalin-5-yl]-ethanone	KI	2.7 nM
CHEMBL488286	KI	2.7 nM
CHEMBL3246832	KI	2.8 nM
6,7-dichloro-5-(2-fluoro-5-hydroxy-phenyl)-1-methyl-3H-1,4-benzodiazepin-2-one (I)	KI	2.9 nM	US-12344614: Benzodiazepine derivatives as GABA a GAMMA1 PAM
CHEMBL1795561	IC50	3 nM
CHEMBL488285	KI	3.2 nM
CHEMBL475204	KI	3.3 nM
(5S)-8,9-dichloro-7-(2-fluoro-5-hydroxy-phenyl)-5-methyl-5H-pyrimido[1,2-a][1,4]benzodiazepin-3-one	KI	3.3 nM	US-12344614: Benzodiazepine derivatives as GABA a GAMMA1 PAM
4-fluoro-3-[(4S)-7,8-dichloro-1,4-dimethyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-6-yl]phenol	KI	3.35 nM	US-12344614: Benzodiazepine derivatives as GABA a GAMMA1 PAM
6-chloro-5-(2-fluoro-5-hydroxy-phenyl)-1,7-dimethyl-3H-1,4-benzodiazepin-2-one (II)	KI	3.49 nM	US-12344614: Benzodiazepine derivatives as GABA a GAMMA1 PAM
Panadiplon	KI	3.5 nM
(4S)-7,8-dichloro-6-(2,6-difluorophenyl)-4-methyl-1-pyridazin-3-yl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepine	KI	3.8 nM	US-20240002393: SUBSTITUTED BENZO[f][l ,2,4JTRIAZOL0[4,3-a][l ,4JDIAZEPINES AS GABA A GAMMA! POSITIVE ALLOSTERIC MODULATORS
CHEMBL5192472	KI	3.9 nM
6-ethyl-3-(3-methylbutoxycarbonyl)-4-quinolone	KI	4.1 nM
3-(5-Cyclopropyl-[1,2,4]oxadiazol-3-yl)-4H-imidazo[1,5-a]quinoxaline-5-carboxylic acid ethylamide	KI	4.5 nM
[3-(5-Cyclopropyl-[1,2,4]oxadiazol-3-yl)-6-methyl-4H-imidazo[1,5-a]quinoxalin-5-yl]-morpholin-4-yl-methanone	KI	4.7 nM
CHEMBL506314	KI	5.1 nM
8-chloro-7-(2-fluoro-5-hydroxy-phenyl)-9-(trifluoromethyl)-5H-pyrimido[1,2-a][1,4]benzodiazepin-3-one	KI	5.17 nM	US-12344614: Benzodiazepine derivatives as GABA a GAMMA1 PAM
6-chloro-5-(2-fluoro-5-hydroxy-phenyl)-1-methyl-7-(trifluoromethyl)-3H-1,4-benzodiazepin-2-one	KI	5.43 nM	US-12344614: Benzodiazepine derivatives as GABA a GAMMA1 PAM
3-(7,8-dichloro-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-6-yl)-4-fluoro-phenol	KI	5.44 nM	US-12344614: Benzodiazepine derivatives as GABA a GAMMA1 PAM
GNF-Pf-4421	KI	5.9 nM
(4S)-7,8-dichloro-6-(2,6-difluorophenyl)-4-methyl-1-(6-methylpyridazin-3-yl)-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepine	KI	5.9 nM	US-20240002393: SUBSTITUTED BENZO[f][l ,2,4JTRIAZOL0[4,3-a][l ,4JDIAZEPINES AS GABA A GAMMA! POSITIVE ALLOSTERIC MODULATORS
CHEMBL5179977	KI	6.3 nM

ChEMBL bioactivities

1085 potent at pChembl≥5 of 1291 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
10.30	Ki	0.05	nM	PHENAZEPAM
10.22	Ki	0.06	nM	PHENAZEPAM
10.00	IC50	0.1	nM	CHEMBL454349
9.92	Ki	0.12	nM	CHEMBL487686
9.92	Ki	0.12	nM	CHEMBL488283
9.92	Ki	0.12	nM	CHEMBL469477
9.92	Ki	0.12	nM	PHENAZEPAM
9.85	Ki	0.14	nM	CHEMBL487687
9.82	Ki	0.15	nM	CHEMBL3274851
9.80	IC50	0.16	nM	CHEMBL309517
9.77	Ki	0.17	nM	CHEMBL50763
9.70	IC50	0.2	nM	CHEMBL4747460
9.66	Ki	0.22	nM	CHEMBL48403
9.62	IC50	0.24	nM	CHEMBL79037
9.59	Ki	0.26	nM	CHEMBL3274851
9.57	Ki	0.27	nM	CHEMBL381059
9.55	Ki	0.28	nM	CHEMBL3274851
9.52	Ki	0.3	nM	CHEMBL290036
9.52	Ki	0.3	nM	CHEMBL49888
9.42	Ki	0.38	nM	CHEMBL471551
9.41	Ki	0.39	nM	CHEMBL487685
9.40	IC50	0.3981	nM	CGS-8216
9.40	Ki	0.4	nM	CHEMBL1451229
9.40	IC50	0.4	nM	CHEMBL1271047
9.35	Ki	0.45	nM	CHEMBL2348441
9.34	IC50	0.46	nM	CHEMBL78730
9.31	IC50	0.49	nM	CHEMBL76263
9.30	Ki	0.5	nM	CHEMBL1451229
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
9.29	Ki	0.51	nM	CHEMBL520411
9.29	Ki	0.51	nM	CHEMBL50763
9.28	Ki	0.53	nM	CHEMBL488284
9.22	IC50	0.6026	nM	CGS-9896
9.22	IC50	0.6	nM	CHEMBL419096
9.22	Ki	0.6	nM	ALPRAZOLAM
9.22	Ki	0.6	nM	CHEMBL475204
9.22	Ki	0.6	nM	CHEMBL1451229
9.22	Ki	0.6	nM	CHEMBL3246832
9.22	Ki	0.6	nM	CHEMBL5179977
9.17	Ki	0.68	nM	PHENAZEPAM
9.15	Ki	0.7	nM	CHEMBL3246832
9.15	Ki	0.7	nM	CHEMBL290036
9.12	IC50	0.76	nM	CHEMBL540583
9.10	IC50	0.79	nM	CHEMBL77226
9.10	Ki	0.8	nM	ALPRAZOLAM
9.10	Ki	0.8	nM	CHEMBL5192472

PubChem BioAssay actives

1072 with measured affinity, of 3982 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
1,4,5,6-tetrahydropyrimidine-5-carboxylic acid	1184360: Agonist activity at human GABAAalpha1beta2gamma2S receptor expressed in tsA-201cells by FLIPR membrane potential blue assay	ec50	<0.0001	uM
6-amino-2-methylpyridine-3-carboxylic acid	1184360: Agonist activity at human GABAAalpha1beta2gamma2S receptor expressed in tsA-201cells by FLIPR membrane potential blue assay	ec50	<0.0001	uM
piperidine-4-carboxylic acid	1184360: Agonist activity at human GABAAalpha1beta2gamma2S receptor expressed in tsA-201cells by FLIPR membrane potential blue assay	ec50	<0.0001	uM
2-(4-methoxyphenyl)-1H-pyrazolo[4,3-c]quinolin-3-one	40988: Inhibition on Benzodiazepine receptor	ic50	0.0001	uM
7-bromo-5-(2-fluorophenyl)-1,3-dihydro-1,4-benzodiazepin-2-one	1889907: Displacement of [3H]flunitrazepam from human recombinant alpha2beta2gamma2 GABAA receptor expressed in HEK cell membrane by competitive radioligand binding assay	ki	0.0001	uM
7-bromo-5-(2-chlorophenyl)-1,3-dihydro-1,4-benzodiazepin-2-one	1889906: Displacement of [3H]flunitrazepam from human recombinant alpha1beta2gamma2 GABAA receptor expressed in HEK cell membrane by competitive radioligand binding assay	ki	0.0001	uM
6-benzyl-3-pentanoyl-1H-quinolin-4-one	343134: Displacement of [3H]flumazenil from human recombinant GABAA alpha-1-beta-2-gamma-2S receptor expressed in HEK293 cells	ki	0.0001	uM
6-benzyl-3-butanoyl-1H-quinolin-4-one	343134: Displacement of [3H]flumazenil from human recombinant GABAA alpha-1-beta-2-gamma-2S receptor expressed in HEK293 cells	ki	0.0001	uM
3-pentanoyl-6-(pyridin-3-ylmethyl)-1H-quinolin-4-one	343134: Displacement of [3H]flumazenil from human recombinant GABAA alpha-1-beta-2-gamma-2S receptor expressed in HEK293 cells	ki	0.0001	uM
3-pentanoyl-6-(pyridin-2-ylmethyl)-1H-quinolin-4-one	343134: Displacement of [3H]flumazenil from human recombinant GABAA alpha-1-beta-2-gamma-2S receptor expressed in HEK293 cells	ki	0.0001	uM
[7-chloro-3-(5-cyclopropyl-1,2,4-oxadiazol-3-yl)-4H-imidazo[1,5-a]quinoxalin-5-yl]-morpholin-4-ylmethanone	72905: Displacement of [3H]flunitrazepam from GABA-A receptor alpha-1-beta-2-gamma-2 subunits expressed in Sf9 cells	ki	0.0002	uM
[3-(5-cyclopropyl-1,2,4-oxadiazol-3-yl)-6-fluoro-4H-imidazo[1,5-a]quinoxalin-5-yl]-morpholin-4-ylmethanone	72906: Displacement of [3H]Flunitrazepam from GABA-A receptor alpha-1-beta-2-gamma-2 subunits expressed in Sf9 cells	ki	0.0002	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
Flumazenil	1798656: Radioligand Binding Assay from Article 10.1021/jm800889m: “Structural Requirements for Eszopiclone and Zolpidem Binding to the gamma-Aminobutyric Acid Type-A (GABAA) Receptor Are Different.”	ki	0.0002	uM
[3-(5-cyclopropyl-1,2,4-oxadiazol-3-yl)-7-fluoro-4H-imidazo[1,5-a]quinoxalin-5-yl]-morpholin-4-ylmethanone	72906: Displacement of [3H]Flunitrazepam from GABA-A receptor alpha-1-beta-2-gamma-2 subunits expressed in Sf9 cells	ki	0.0003	uM
ethyl 6-benzyl-4-oxo-1H-quinoline-3-carboxylate	343134: Displacement of [3H]flumazenil from human recombinant GABAA alpha-1-beta-2-gamma-2S receptor expressed in HEK293 cells	ki	0.0003	uM
[3-(5-cyclopropyl-1,2,4-oxadiazol-3-yl)-4H-imidazo[1,5-a]quinoxalin-5-yl]-phenylmethanone	72906: Displacement of [3H]Flunitrazepam from GABA-A receptor alpha-1-beta-2-gamma-2 subunits expressed in Sf9 cells	ki	0.0003	uM
8-bromo-6-(2-chlorophenyl)-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepine	1889909: Displacement of [3H]flunitrazepam from human recombinant alpha5beta2gamma2 GABAA receptor expressed in HEK cell membrane by competitive radioligand binding assay	ki	0.0004	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
3-pentanoyl-6-(pyridin-4-ylmethyl)-1H-quinolin-4-one	343134: Displacement of [3H]flumazenil from human recombinant GABAA alpha-1-beta-2-gamma-2S receptor expressed in HEK293 cells	ki	0.0004	uM
6-ethyl-3-pentanoyl-1H-quinolin-4-one	343134: Displacement of [3H]flumazenil from human recombinant GABAA alpha-1-beta-2-gamma-2S receptor expressed in HEK293 cells	ki	0.0004	uM
3-iodo-5-oxido-N-(pyridin-3-ylmethyl)pyrazolo[5,1-c][1,2,4]benzotriazin-5-ium-8-amine	739949: Displacement of [3H]Ro15-1788 from recombinant GABA-A alpha1beta2gamma2 receptor benzodiazepine binding site (unknown origin) after 1 hr	ki	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
6-benzyl-3-(2-cyclopentylacetyl)-1H-quinolin-4-one	343134: Displacement of [3H]flumazenil from human recombinant GABAA alpha-1-beta-2-gamma-2S receptor expressed in HEK293 cells	ki	0.0005	uM
3-pentanoyl-6-(2-phenylethyl)-1H-quinolin-4-one	343134: Displacement of [3H]flumazenil from human recombinant GABAA alpha-1-beta-2-gamma-2S receptor expressed in HEK293 cells	ki	0.0005	uM
8-bromo-1-methyl-6-phenyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepine	1889909: Displacement of [3H]flunitrazepam from human recombinant alpha5beta2gamma2 GABAA receptor expressed in HEK cell membrane by competitive radioligand binding assay	ki	0.0006	uM
8-ethynyl-6-(2-fluorophenyl)-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepine	1889909: Displacement of [3H]flunitrazepam from human recombinant alpha5beta2gamma2 GABAA receptor expressed in HEK cell membrane by competitive radioligand binding assay	ki	0.0006	uM
6-(2-chlorophenyl)-8-ethynyl-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepine	1889907: Displacement of [3H]flunitrazepam from human recombinant alpha2beta2gamma2 GABAA receptor expressed in HEK cell membrane by competitive radioligand binding assay	ki	0.0006	uM
Alprazolam	1889907: Displacement of [3H]flunitrazepam from human recombinant alpha2beta2gamma2 GABAA receptor expressed in HEK cell membrane by competitive radioligand binding assay	ki	0.0006	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
[6-(5-chloro-2-pyridinyl)-7-hydroxypyrrolo[3,4-b]pyrazin-5-yl] 4-methylpiperazine-1-carboxylate	1798656: Radioligand Binding Assay from Article 10.1021/jm800889m: “Structural Requirements for Eszopiclone and Zolpidem Binding to the gamma-Aminobutyric Acid Type-A (GABAA) Receptor Are Different.”	ki	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
7-ethynyl-5-(2-fluorophenyl)-1-methyl-3H-1,4-benzodiazepin-2-one	1889909: Displacement of [3H]flunitrazepam from human recombinant alpha5beta2gamma2 GABAA receptor expressed in HEK cell membrane by competitive radioligand binding assay	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
3-(2-cyclopentylacetyl)-6-(pyridin-3-ylmethyl)-1H-quinolin-4-one	343134: Displacement of [3H]flumazenil from human recombinant GABAA alpha-1-beta-2-gamma-2S receptor expressed in HEK293 cells	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
5-(2-chlorophenyl)-7-ethynyl-1-methyl-3H-1,4-benzodiazepin-2-one	1889907: Displacement of [3H]flunitrazepam from human recombinant alpha2beta2gamma2 GABAA receptor expressed in HEK cell membrane by competitive radioligand binding assay	ki	0.0010	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
gamma-Aminobutyric Acid	affects reaction, affects cotreatment, increases reaction, increases transport, affects binding (+2 more)	12
Valproic Acid	affects expression, affects cotreatment, increases expression	6
trichostatin A	affects cotreatment, increases expression	3
1-(3-chlorophenyl)piperazine	affects binding, decreases reaction, increases activity, decreases activity, increases reaction	2
2,4,2’,4’-tetrachlorobiphenyl	decreases reaction, affects binding, increases activity, affects cotreatment, increases reaction	2
mercuric bromide	affects cotreatment, increases expression	2
loreclezole	increases transport, affects response to substance, increases reaction	2
Vorinostat	affects cotreatment, increases expression	2
Panobinostat	affects cotreatment, increases expression	2
Diazepam	affects binding, increases activity, increases reaction	2
Doxorubicin	affects expression, decreases expression	2
6-methoxyflavone	affects binding, increases activity, increases reaction	1
6-methoxyflavanone	increases activity, increases reaction, affects binding	1
beta-thujone	affects binding, decreases reaction, increases activity	1
1-benzylpiperazine	affects binding, decreases reaction, increases activity	1
carvone	affects binding, increases activity, increases reaction	1
2,5,2’,5’-tetrachlorobiphenyl	affects binding, affects cotreatment, increases activity	1
tetramethylenedisulfotetramine	decreases reaction, increases activity, increases reaction, affects binding	1
2,4,5,2’,4’,5’-hexachlorobiphenyl	affects binding, decreases reaction, increases activity	1
bromoform	affects activity, affects binding	1
1-(3-trifluoromethylphenyl)piperazine	decreases reaction, increases activity, affects binding	1
menthone	affects binding, increases activity, increases reaction	1
tetrabromobisphenol A	increases reaction, affects binding, affects reaction, increases activity	1
isoborneol	affects binding, increases activity, increases reaction	1
picrotoxinin	decreases reaction, increases activity, affects binding	1
1-(4-chlorophenyl)piperazine	affects binding, decreases reaction, increases activity	1
phenylpiperazine	affects binding, decreases reaction, increases activity	1
2,2’,3,5’,6-pentachlorobiphenyl	affects binding, affects cotreatment, increases activity	1
tert-butylbicyclophosphorothionate	affects binding, decreases reaction	1
1-(2-methoxyphenyl)piperazine	affects binding, decreases reaction, increases activity	1

ChEMBL screening assays

549 unique, capped per target: 463 binding, 81 functional, 4 toxicity, 1 admet

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1816618	Binding	Modulation of GABA Aalpha1beta2 receptor expressed in Xenopus laevis oocytes assessed as potentiation of GABA-induced chloride current at holding potential -70 mV by two-microelectrode voltage clamp technique	Modulation of GABAA-receptors by honokiol and derivatives: subtype selectivity and structure-activity relationship. — *J Med Chem*
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*

Cellosaurus cell lines

4 cell lines: 3 spontaneously immortalized cell line, 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_C0XQ	B’SYS CHO alpha1beta2gamma2 GABA(A)	Spontaneously immortalized cell line	Female
CVCL_C0YP	CHO-K1 GABA(A)R alpha1beta2gamma2L	Spontaneously immortalized cell line	Female
CVCL_C5TV	GABAA1-CHO	Spontaneously immortalized cell line	Female
CVCL_C9E7	B’SYS LTK alpha1beta2gamma2 GABA(A)	Transformed cell line	Male

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.

showing 60 of 204 trials:

NCT	Phase	Status	Title
NCT05657860	Phase 4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	Phase 4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	Phase 4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	Phase 4	RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT02270736	Phase 3	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
NCT02304302	Phase 2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT03862950	Phase 2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226	Phase 2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856	Phase 2	COMPLETED	Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT05273320	Phase 1	COMPLETED	Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361	Phase 1	ENROLLING_BY_INVITATION	Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764	Phase 1	COMPLETED	Use of MRI and cTBS for Catatonia in Autism
NCT06586827	Phase 1	COMPLETED	Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940	Phase 1	NOT_YET_RECRUITING	Escalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT03479476	Phase 2/3	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome
NCT02616796	Phase 1/2	COMPLETED	Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome
NCT06860672	Early Phase 1	TERMINATED	Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation
NCT00597948	Not specified	COMPLETED	Healthy Lifestyles for People With Intellectual Disabilities
NCT01087320	Not specified	RECRUITING	Genome Medical Sequencing for Gene Discovery
NCT01652963	Not specified	UNKNOWN	Picture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills
NCT01695395	Not specified	COMPLETED	Mental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder
NCT01867554	Not specified	COMPLETED	Research and Characterization of New Genes Involved in Intellectual Disability
NCT01915381	Not specified	COMPLETED	Improving Adherence Healthy Lifestyle With a Smartphone Application Based on Adults With Intellectual Disabilities
NCT01988623	Not specified	COMPLETED	Pivotal Response Treatment for Individuals With Intellectual Disabilities
NCT02099773	Not specified	COMPLETED	Support Staff-client Interactions With Augmentative and Alternative Communication
NCT02136849	Not specified	COMPLETED	Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic
NCT02225041	Not specified	COMPLETED	Sedation Strategy and Cognitive Outcome After Critical Illness in Early Childhood
NCT02414438	Not specified	COMPLETED	Establishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study
NCT02451761	Not specified	COMPLETED	Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability
NCT02461420	Not specified	ACTIVE_NOT_RECRUITING	Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
NCT02461459	Not specified	ACTIVE_NOT_RECRUITING	Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)
NCT02486081	Not specified	COMPLETED	Development and Application-Smart Football for Movement Evaluation and Training in the Special Education Population
NCT02504502	Not specified	COMPLETED	Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients
NCT02513277	Not specified	COMPLETED	Diabetes Screening & Prevention for People With Learning (Intellectual) Disabilities:STOP Diabetes Study
NCT02561754	Not specified	COMPLETED	Weight Management for Adolescents With IDD
NCT02591446	Not specified	COMPLETED	Transcranial Magnetic Stimulation Studies in Autism Spectrum Disorders
NCT02714868	Not specified	COMPLETED	Evaluation of Project TEAM (Teens Making Environmental and Activity Modifications)
NCT02721394	Not specified	UNKNOWN	FCT With Young Children With ID in the UK: A Feasibility Project V.1
NCT02746614	Not specified	COMPLETED	Psychomotor Therapy Effects in Adaptive Behavior and Motor Proficiency in Intellectual Disability
NCT02836405	Not specified	COMPLETED	TMS for the Investigation of Brain Plasticity in Autism Spectrum Disorders
NCT02862808	Not specified	COMPLETED	Molecular Diagnosis of Syndromic or Isolated Severe Intellectual Disability Using Whole Exome Sequencing : a Pilot Study
NCT02881333	Not specified	UNKNOWN	Various Type of Genetic Events in Patients With Intellectual Disability
NCT02889068	Not specified	COMPLETED	Targeted Next Generation Sequencing and Intellectual Disability
NCT02914951	Not specified	ENROLLING_BY_INVITATION	Cognitive-Behavioral Therapy for Irritability in Children With Autism Spectrum Disorder and Intellectual Disability
NCT02919826	Not specified	COMPLETED	Dialectical Behaviour Group Therapy for Adults With Intellectual Disabilities
NCT02934854	Not specified	WITHDRAWN	Biomarker for Creatine Deficiency Syndromes (BioCDS)
NCT03033797	Not specified	UNKNOWN	Augmentative and Alternative Communication in Games With Virtual Reality in Intellectual Disabilities
NCT03135236	Not specified	COMPLETED	Parents as the Primary Sexuality Educators for Their Young Adults With Down Syndrome
NCT03139760	Not specified	COMPLETED	POWERSforID: A Telehealth Weight Management System for Adults With Intellectual Disability
NCT03203226	Not specified	COMPLETED	The Feldenkrais Method for People With Intellectual Disability
NCT03212092	Not specified	COMPLETED	Reducing Aggression Among People With an Intellectual Disability
NCT03218462	Not specified	COMPLETED	Effect of Sensory Adapted Dental Environment on Dental Anxiety of Children With Intellectual and Developmental Disabilities
NCT03234231	Not specified	UNKNOWN	Supervised Brushing Programme for Intellectual Disabled Students
NCT03348124	Not specified	UNKNOWN	Prevention Among Young People With Intellectual Disability
NCT03424772	Not specified	UNKNOWN	Whole Genome Sequencing in the Detection of Rare Undiagnosed Genetic Diseases in Children in China
NCT03426059	Not specified	COMPLETED	Mapping the Phenotype in Adults With Phelan-McDermid Syndrome
NCT03492060	Not specified	RECRUITING	Longitudinal Study of Neurogenetic Disorders
NCT03501914	Not specified	COMPLETED	A Pilot Trial of Mindfulness Based Intervention Program for People With Intellectual Disabilities in a Low Income Setting
NCT03522337	Not specified	COMPLETED	Oral Health Promotion Among Preschool Children With Special Needs
NCT03525431	Not specified	COMPLETED	Clinical Utility of Pediatric Whole Exome Sequencing

Predicted chemistry — Sugi Predict

The predicted patent-compound landscape for GABRB2 across ~30M SureChEMBL compounds — explore on Sugi Predict.