GABRD

Summary

GABRD (gamma-aminobutyric acid type A receptor subunit delta, HGNC:4084) is a protein-coding gene on chromosome 1p36.33, encoding Gamma-aminobutyric acid receptor subunit delta (O14764). Delta subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain.

Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. The GABA-A receptor is generally pentameric and there are five types of subunits: alpha, beta, gamma, delta, and rho. This gene encodes the delta subunit. Mutations in this gene have been associated with susceptibility to generalized epilepsy with febrile seizures, type 5. Alternatively spliced transcript variants have been described for this gene, but their biological validity has not been determined.

Source: NCBI Gene 2563 — RefSeq curated summary.

At a glance

• Gene–disease (curated): epilepsy, idiopathic generalized, susceptibility to, 10 (Strong, GenCC) — +2 more curated relationships
• GWAS associations: 2
• Clinical variants (ClinVar): 477 total — 1 pathogenic, 3 likely-pathogenic
• Phenotypes (HPO): 133
• Druggable target: yes — 16 molecules with ChEMBL bioactivity
• MANE Select transcript: NM_000815

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4084
Approved symbol	GABRD
Name	gamma-aminobutyric acid type A receptor subunit delta
Location	1p36.33
Locus type	gene with protein product
Status	Approved
Aliases	GABAARdelta
Ensembl gene	ENSG00000187730
Ensembl biotype	protein_coding
OMIM	137163
Entrez	2563

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 10 protein_coding, 8 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000378585, ENST00000638411, ENST00000638604, ENST00000638763, ENST00000638771, ENST00000638804, ENST00000639045, ENST00000639070, ENST00000639625, ENST00000639777, ENST00000639935, ENST00000640030, ENST00000640067, ENST00000640317, ENST00000640423, ENST00000640688, ENST00000640892, ENST00000640949, ENST00000640981, ENST00000858706

RefSeq mRNA: 1 — MANE Select: NM_000815 NM_000815

CCDS: CCDS36

Canonical transcript exons

ENST00000378585 — 9 exons

Exon	Start	End
ENSE00001365521	2029111	2029266
ENSE00001367283	2027577	2027659
ENSE00001376428	2029551	2029762
ENSE00001378645	2024942	2025054
ENSE00001381901	2025518	2025738
ENSE00001382633	2025334	2025401
ENSE00001390226	2028155	2028292
ENSE00001478012	2029983	2030758
ENSE00003802830	2019345	2019491

Expression profiles

Bgee: expression breadth ubiquitous, 176 present calls, max score 99.49.

FANTOM5 (CAGE): breadth broad, TPM avg 3.9562 / max 439.8047, expressed in 279 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
162	3.4718	271
163	0.4243	67
161	0.0600	32

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right hemisphere of cerebellum	UBERON:0014890	99.49	gold quality
cerebellar hemisphere	UBERON:0002245	99.46	gold quality
cerebellar cortex	UBERON:0002129	99.43	gold quality
cerebellum	UBERON:0002037	98.99	gold quality
right frontal lobe	UBERON:0002810	96.77	gold quality
cerebellar vermis	UBERON:0004720	96.48	gold quality
paraflocculus	UBERON:0005351	95.83	gold quality
prefrontal cortex	UBERON:0000451	95.27	gold quality
primary visual cortex	UBERON:0002436	94.22	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	93.48	gold quality
frontal cortex	UBERON:0001870	93.39	gold quality
Brodmann (1909) area 9	UBERON:0013540	93.31	gold quality
cingulate cortex	UBERON:0003027	92.84	gold quality
anterior cingulate cortex	UBERON:0009835	92.78	gold quality
pons	UBERON:0000988	92.37	gold quality
nucleus accumbens	UBERON:0001882	92.33	gold quality
neocortex	UBERON:0001950	92.25	gold quality
middle temporal gyrus	UBERON:0002771	91.87	gold quality
occipital lobe	UBERON:0002021	91.71	gold quality
caudate nucleus	UBERON:0001873	91.33	gold quality
putamen	UBERON:0001874	90.99	gold quality
superior frontal gyrus	UBERON:0002661	89.75	gold quality
cerebral cortex	UBERON:0000956	89.30	gold quality
Brodmann (1909) area 23	UBERON:0013554	89.23	gold quality
telencephalon	UBERON:0001893	89.17	gold quality
amygdala	UBERON:0001876	88.58	gold quality
parietal lobe	UBERON:0001872	88.14	gold quality
postcentral gyrus	UBERON:0002581	88.10	gold quality
brain	UBERON:0000955	85.99	gold quality
Brodmann (1909) area 46	UBERON:0006483	85.83	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	2.74
E-CURD-97	no	297.07

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): REST

miRNA regulators (miRDB)

3 targeting GABRD, 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-629-3P	99.85	67.99	1875
HSA-MIR-3151-3P	97.80	66.16	479
HSA-MIR-6880-3P	85.95	63.83	83

Literature-anchored findings (GeneRIF, showing 14)

• Lower delta mRNA levels in schizophrenia might reflect a reduced number of alpha(1)beta(x)delta GABA(A) receptors that could contribute to deficient tonic inhibition and prefrontal cortical dysfunction in schizophrenia. (PMID:19289452)
• These findings point to the GABRD gene as a susceptibility gene for COMD. (PMID:20561060)
• In recombinant human cDNA experiments in HEK293 cells, delta subunit coexpression leads to receptors activated by nanomolar THIP concentrations. (PMID:21795619)
• Genome-wide association studies identify GABRD mutation releated to juvenile myoclonic epilepsy (PMID:23756480)
• Considering our Argentinean ASD sample, it can be inferred that GABRB3 would be involved in the etiology of autism through interaction with GABRD. These results support the hypothesis that GABAR subunit genes are involved in autism. (PMID:24249596)
• This study found that increased methylation of the promoter of the delta subunit GABAA receptor was associated with reduced mRNA and protein levels in the cerebellum of alcohol use disorder subjects. (PMID:29020412)
• In IDH wild-type diffuse low-grade glioma patients preserved GABRD expression was independently associated with longer overall survival and reduced tumor infiltration macrophages(TIM). CpG methylation of cg13916816 showed a moderately negative correlation with GABRD expression. (PMID:31545245)
• Association between GABA receptor delta subunit gene polymorphisms and heroin addiction. (PMID:33887383)
• Research for Expression and Prognostic Value of GABRD in Colon Cancer and Coexpressed Gene Network Construction Based on Data Mining. (PMID:34194536)
• Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy. (PMID:34633442)
• Splice-Site Variants in the Gene Encoding GABA-A Receptor Delta Subunit Are Associated with Amphetamine Use in Patients under Methadone Maintenance Treatment. (PMID:36614162)
• Association of GABA receptor delta subunit gene variations with increased risk of methamphetamine dependence. (PMID:36804572)
• The delta subunit of the GABAA receptor is necessary for the GPT2-promoted breast cancer metastasis. (PMID:36923530)
• Triplications of chromosome 1p36.3, including the genes GABRD and SKI, are associated with a developmental disorder and a facial gestalt. (PMID:37129290)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	gabrd	ENSDARG00000059763
mus_musculus	Gabrd	ENSMUSG00000029054
rattus_norvegicus	Gabrd	ENSRNOG00000016385

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), GABRB1 (ENSG00000163288), GABRB3 (ENSG00000166206), CHRFAM7A (ENSG00000166664), HTR3A (ENSG00000166736), CHRNA5 (ENSG00000169684), CHRNB1 (ENSG00000170175), CHRNA9 (ENSG00000174343), CHRNA7 (ENSG00000175344), HTR3C (ENSG00000178084), GABRG3 (ENSG00000182256), GABRR3 (ENSG00000183185), HTR3E (ENSG00000186038)

Protein

Protein identifiers

Gamma-aminobutyric acid receptor subunit delta — O14764 (reviewed: O14764)

Alternative names: GABA(A) receptor subunit delta

All UniProt accessions (10): A0A1W2PP88, A0A1W2PPH3, A0A1W2PPP1, A0A1W2PQR3, A0A1W2PQT2, A0A1W2PQZ5, A0A1W2PR72, A0A1W2PRC4, A0A1W2PRY7, O14764

UniProt curated annotations — full annotation on UniProt →

Function. Delta 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. GABAARs containing delta/GABRD subunits are predominantly located in extrasynaptic or perisynaptic positions on hippocampus and cerebellar granule cells, and contribute to the tonic GABAergic inhibition. GABAAR containing alpha-4-beta-3-delta subunits 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.

Subcellular location. Cell membrane.

Disease relevance. Generalized epilepsy with febrile seizures plus 5 (GEFSP5) [MIM:613060] A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity. Disease susceptibility is associated with variants affecting the gene represented in this entry. Epilepsy, idiopathic generalized 10 (EIG10) [MIM:613060] A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Disease susceptibility is associated with variants affecting the gene represented in this entry.

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. GABRD sub-subfamily.

RefSeq proteins (1): NP_000806* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006028	GABAA/Glycine_rcpt	Family
IPR006029	Neurotrans-gated_channel_TM	Domain
IPR006201	Neur_channel	Family
IPR006202	Neur_chan_lig-bd	Domain
IPR008098	GABAAd_rcpt	Family
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 (46 total): strand 13, helix 8, topological domain 5, sequence variant 5, turn 5, transmembrane region 4, glycosylation site 2, signal peptide 1, chain 1, modified residue 1, disulfide bond 1

Structure

Experimental structures (PDB)

7 structures.

PDB	Method	Resolution (Å)
7QN5	ELECTRON MICROSCOPY	2.5
7QN6	ELECTRON MICROSCOPY	2.9
7QN9	ELECTRON MICROSCOPY	2.9
7QNC	ELECTRON MICROSCOPY	2.9
7QN7	ELECTRON MICROSCOPY	3
7QN8	ELECTRON MICROSCOPY	3.1
7QND	ELECTRON MICROSCOPY	3.4

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O14764-F1	79.82	0.50

Antibody-complex structures (SAbDab): 7 — 7QN5, 7QN6, 7QN7, 7QN8, 7QN9, 7QNC, 7QND

Functional residue map

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

Post-translational modifications (1): 390

Disulfide bonds (1): 164–178

Glycosylation sites (2): 103, 106

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 389 (showing top): STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_INORGANIC_ANION_TRANSPORT, GOBP_GAMMA_AMINOBUTYRIC_ACID_SIGNALING_PATHWAY, GOBP_CELL_CELL_SIGNALING, GOBP_CHLORIDE_TRANSPORT, GOBP_REGULATION_OF_POSTSYNAPTIC_MEMBRANE_POTENTIAL, KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION, GOBP_SYNAPTIC_SIGNALING, GOCC_NEURON_PROJECTION, GOBP_TRANSMEMBRANE_TRANSPORT, SHEN_SMARCA2_TARGETS_DN, GOCC_GABA_RECEPTOR_COMPLEX, GOCC_POSTSYNAPSE, GOBP_REGULATION_OF_MEMBRANE_POTENTIAL, GOCC_SYNAPSE

GO Biological Process (10): signal transduction (GO:0007165), gamma-aminobutyric acid signaling pathway (GO:0007214), synaptic transmission, GABAergic (GO:0051932), chloride transmembrane transport (GO:1902476), monoatomic ion transport (GO:0006811), chloride transport (GO:0006821), cell-cell signaling (GO:0007267), chemical synaptic transmission (GO:0007268), monoatomic ion transmembrane transport (GO:0034220), regulation of postsynaptic membrane potential (GO:0060078)

GO Molecular Function (7): GABA-A receptor activity (GO:0004890), chloride channel activity (GO:0005254), 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), protein binding (GO:0005515)

GO Cellular Component (10): plasma membrane (GO:0005886), axon (GO:0030424), dendrite (GO:0030425), chloride channel complex (GO:0034707), neuronal cell body (GO:0043025), postsynaptic membrane (GO:0045211), glutamatergic synapse (GO:0098978), GABA-ergic synapse (GO:0098982), GABA-A receptor complex (GO:1902711), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell communication	2
signaling	2
GABA receptor activity	2
neuron projection	2
synapse	2
cellular process	1
regulation of cellular process	1
cellular response to stimulus	1
cell-cell signaling	1
chemical synaptic transmission	1
chloride transport	1
monoatomic anion transmembrane transport	1
transport	1
monoatomic anion transport	1
inorganic anion transport	1
anterograde trans-synaptic signaling	1
monoatomic ion transport	1
transmembrane transport	1
regulation of membrane potential	1
monoatomic anion channel activity	1
chloride transmembrane transporter activity	1
transmitter-gated monoatomic ion 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
binding	1
membrane	1
cell periphery	1
dendritic tree	1
monoatomic ion channel complex	1
somatodendritic compartment	1
cell body	1
synaptic membrane	1
postsynapse	1
GABA receptor complex	1
cellular anatomical structure	1

Protein interactions and networks

STRING

2018 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GABRD	SLC6A1	P30531	901
GABRD	CFAP74	Q9C0B2	821
GABRD	EFHC1	Q5JVL4	819
GABRD	SLC6A13	Q9NSD5	804
GABRD	CLCN2	P51788	775
GABRD	CACNB4	O00305	770
GABRD	SCN1B	Q07699	762
GABRD	SLC6A11	P48066	735
GABRD	KCNK3	O14649	716
GABRD	SCN1A	P35498	709
GABRD	GABBR1	Q9UBS5	692
GABRD	SCN9A	Q15858	654
GABRD	CACNA1H	O95180	574
GABRD	GABBR2	O75899	546
GABRD	PRKCZ	Q05513	546

IntAct

29 interactions, top by confidence:

A	B	Type	Score
UBQLN1	GABRD	psi-mi:“MI:0915”(physical association)	0.670
GABRD	UBQLN1	psi-mi:“MI:0915”(physical association)	0.670
NOTCH2NLA	GABRD	psi-mi:“MI:0915”(physical association)	0.560
UBQLN1	GABRD	psi-mi:“MI:0915”(physical association)	0.560
GABRD	UBQLN1	psi-mi:“MI:0915”(physical association)	0.560
GABRD	MDFI	psi-mi:“MI:0915”(physical association)	0.560
GABRD	ATF6	psi-mi:“MI:0914”(association)	0.530
GABRD	RAB13	psi-mi:“MI:0915”(physical association)	0.400
GABRD	CCR8	psi-mi:“MI:0915”(physical association)	0.370
GABRD	ORM1	psi-mi:“MI:0914”(association)	0.350
GABRD	TAX1BP1	psi-mi:“MI:0914”(association)	0.350
GABRA4	GABRD	psi-mi:“MI:0915”(physical association)	0.320
GABRB3	GABRD	psi-mi:“MI:0915”(physical association)	0.320
GABRD	MDFI	psi-mi:“MI:0915”(physical association)	0.000
ETS2	GABRD	psi-mi:“MI:0915”(physical association)	0.000
GABRD	UBQLN4	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (37): UBQLN1 (Two-hybrid), NOTCH2NL (Two-hybrid), UBQLN1 (Two-hybrid), DNAJC18 (Affinity Capture-MS), FUT8 (Affinity Capture-MS), SIDT2 (Affinity Capture-MS), ST7L (Affinity Capture-MS), TUSC3 (Affinity Capture-MS), TTC17 (Affinity Capture-MS), CCPG1 (Affinity Capture-MS), ATG9A (Affinity Capture-MS), DNAJB9 (Affinity Capture-MS), TMEM131 (Affinity Capture-MS), ATF6 (Affinity Capture-MS), RNF115 (Affinity Capture-MS)

ESM2 similar proteins: A8WQK3, F1R8P4, G5EBR3, O00591, O09028, O14764, O18276, O75311, O93430, P02712, P02718, P04757, P05376, P07727, P09481, P09628, P12392, P18506, P19370, P20781, P22771, P22933, P23415, P23416, P24524, P26153, P26714, P30926, P32297, P48167, P48168, P48180, P54244, P57695, P91730, Q07263, Q09453, Q17328, Q5EA06, Q61603

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

4 interactions.

A	Effect	B	Mechanism
GABRD	“form complex”	“GABA-A (a4-b2-d) receptor”	binding
GABRD	“form complex”	“GABA-A (a4-b3-d) receptor”	binding
GABRD	“form complex”	“GABA-A (a6-b2-d) receptor”	binding
GABRD	“form complex”	“GABA-A (a6-b3-d) receptor”	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	3
Uncertain significance	238
Likely benign	189
Benign	20

Top pathogenic / likely-pathogenic (4)

Variant ID	HGVS	Classification
1805963	NM_000815.5(GABRD):c.778C>G (p.Leu260Val)	Pathogenic
2076434	NM_000815.5(GABRD):c.770C>T (p.Pro257Leu)	Likely pathogenic
2412913	NM_000815.5(GABRD):c.635C>T (p.Ala212Val)	Likely pathogenic
3912066	NM_000815.5(GABRD):c.923A>G (p.Lys308Arg)	Likely pathogenic

SpliceAI

1809 predictions. Top by Δscore:

Variant	Effect	Δscore
1:2019490:AGGTG:A	donor_loss	1.0000
1:2019491:GGTG:G	donor_loss	1.0000
1:2019492:G:GA	donor_loss	1.0000
1:2019493:T:G	donor_loss	1.0000
1:2024937:CCCA:C	acceptor_loss	1.0000
1:2024938:CCA:C	acceptor_loss	1.0000
1:2024939:CAG:C	acceptor_gain	1.0000
1:2024940:A:AG	acceptor_gain	1.0000
1:2024940:AGA:A	acceptor_gain	1.0000
1:2024940:AGAGC:A	acceptor_gain	1.0000
1:2024941:G:GA	acceptor_gain	1.0000
1:2024941:G:T	acceptor_gain	1.0000
1:2024941:GA:G	acceptor_gain	1.0000
1:2024941:GAGC:G	acceptor_gain	1.0000
1:2024941:GAGCG:G	acceptor_gain	1.0000
1:2025052:G:GT	donor_gain	1.0000
1:2025052:GAG:G	donor_gain	1.0000
1:2025052:GAGGT:G	donor_loss	1.0000
1:2025054:GGTG:G	donor_loss	1.0000
1:2025056:T:G	donor_loss	1.0000
1:2025329:TGCA:T	acceptor_loss	1.0000
1:2025331:CA:C	acceptor_loss	1.0000
1:2025332:A:AG	acceptor_gain	1.0000
1:2025332:AG:A	acceptor_gain	1.0000
1:2025333:G:GA	acceptor_gain	1.0000
1:2025333:GG:G	acceptor_gain	1.0000
1:2025333:GGC:G	acceptor_gain	1.0000
1:2025333:GGCC:G	acceptor_gain	1.0000
1:2025333:GGCCC:G	acceptor_gain	1.0000
1:2025508:A:AG	acceptor_gain	1.0000

AlphaMissense

2944 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:2025551:T:A	W95R	1.000
1:2025551:T:C	W95R	1.000
1:2025553:G:C	W95C	1.000
1:2025553:G:T	W95C	1.000
1:2025626:T:A	W120R	1.000
1:2025626:T:C	W120R	1.000
1:2025628:G:C	W120C	1.000
1:2025628:G:T	W120C	1.000
1:2025633:C:A	P122H	0.999
1:2027597:G:A	C164Y	0.999
1:2027656:A:C	S184R	0.999
1:2027658:C:A	S184R	0.999
1:2027658:C:G	S184R	0.999
1:2029153:G:T	R245M	0.999
1:2029224:T:C	F269L	0.999
1:2029226:C:A	F269L	0.999
1:2029226:C:G	F269L	0.999
1:2029255:G:T	R279M	0.999
1:2029566:T:C	L288P	0.999
1:2025546:A:C	Q93P	0.998
1:2025552:G:C	W95S	0.998
1:2025557:G:C	D97H	0.998
1:2025558:A:C	D97A	0.998
1:2025564:G:T	R99M	0.998
1:2025641:T:C	F125L	0.998
1:2025643:C:A	F125L	0.998
1:2025643:C:G	F125L	0.998
1:2025690:A:T	N141I	0.998
1:2025691:C:A	N141K	0.998
1:2025691:C:G	N141K	0.998

dbSNP variants (sampled 300 via entrez): RS1000024225 (1:2019942 C>A,G), RS1000049679 (1:2030361 C>G,T), RS1000636482 (1:2018843 C>T), RS1000984325 (1:2019092 C>A), RS1001146595 (1:2021131 G>A), RS1001558600 (1:2022800 A>G), RS1001688013 (1:2027256 C>T), RS1001717815 (1:2029396 C>A,G,T), RS1002120280 (1:2030390 A>G,T), RS1002131544 (1:2028099 C>A,T), RS1002172902 (1:2030217 C>A,G,T), RS1002272224 (1:2026006 C>A), RS1002561134 (1:2021870 T>C), RS1002894294 (1:2017904 G>A,C), RS1003121749 (1:2029460 C>T)

Disease associations

OMIM: gene MIM:137163 | disease phenotypes: MIM:600669, MIM:613060, MIM:182212

GenCC curated gene-disease

Disease	Classification	Inheritance
epilepsy, idiopathic generalized, susceptibility to, 10	Strong	Autosomal dominant
complex neurodevelopmental disorder	Moderate	Autosomal dominant

ClinGen Gene-Disease Validity (2)

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

Disease	Classification	Inheritance
complex neurodevelopmental disorder	Moderate	AD
epilepsy	Limited	AD

Mondo (6): idiopathic generalized epilepsy (MONDO:0005579), epilepsy, idiopathic generalized, susceptibility to, 10 (MONDO:0013103), autism spectrum disorder (MONDO:0005258), intellectual disability (MONDO:0001071), Shprintzen-Goldberg syndrome (MONDO:0008426), complex neurodevelopmental disorder (MONDO:0100038)

Orphanet (3): Shprintzen-Goldberg syndrome (Orphanet:2462), NON RARE IN EUROPE: Autism (Orphanet:106), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

133 total (30 of 133 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000028	Cryptorchidism
HP:0000047	Hypospadias
HP:0000055	Abnormal female external genitalia morphology
HP:0000077	Abnormality of the kidney
HP:0000107	Renal cyst
HP:0000126	Hydronephrosis
HP:0000135	Hypogonadism
HP:0000153	Abnormality of the mouth
HP:0000160	Narrow mouth
HP:0000248	Brachycephaly
HP:0000252	Microcephaly
HP:0000270	Delayed cranial suture closure
HP:0000286	Epicanthus
HP:0000307	Pointed chin
HP:0000343	Long philtrum
HP:0000358	Posteriorly rotated ears
HP:0000405	Conductive hearing impairment
HP:0000407	Sensorineural hearing impairment
HP:0000431	Wide nasal bridge
HP:0000457	Depressed nasal ridge
HP:0000464	Abnormality of the neck
HP:0000486	Strabismus
HP:0000490	Deeply set eye
HP:0000496	Abnormality of eye movement
HP:0000504	Abnormality of vision
HP:0000505	Visual impairment
HP:0000518	Cataract
HP:0000534	Abnormal eyebrow morphology
HP:0000639	Nystagmus

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST005951_34	Body mass index	3.000000e-08
GCST005951_35	Body mass index	4.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
C562694	Epilepsy, Idiopathic Generalized (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (6): CHEMBL2093872 (PROTEIN COMPLEX GROUP), CHEMBL3430899 (PROTEIN COMPLEX), CHEMBL3591 (SINGLE PROTEIN), CHEMBL4296044 (PROTEIN COMPLEX), CHEMBL4296046 (PROTEIN COMPLEX), CHEMBL4523639 (PROTEIN COMPLEX)

Molecules with ChEMBL bioactivity

16 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 442,939 (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
CHEMBL4105630	ZURANOLONE	4	290
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

3 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs4481796	GABRD		0.00	0
rs2376805	GABRD		0.00	0
rs2229110	GABRD		0.00	0

GtoPdb / IUPHAR curated pharmacology

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

Target class: lgic — GABA_A receptors

ChEMBL bioactivities

536 potent at pChembl≥5 of 576 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
9.40	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
8.40	Ki	4	nM	CHEMBL3407528

PubChem BioAssay actives

471 with measured affinity, of 1018 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 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
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
2-amino-N-[4-chloro-2-(2-chlorobenzoyl)phenyl]acetamide	40974: In vitro displacement of [3H]-diazepam from GABA-A Benzodiazepine receptor	ic50	0.0048	uM
3-(7-fluoro-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	0.0050	uM

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
gamma-Aminobutyric Acid	increases reaction, decreases reaction, affects binding, increases activity	2
Valproic Acid	increases expression, increases methylation	2
4-chloro-N-(2-(2-thienyl)imidazo(1,2-a)pyridin-3-yl)benzamide	affects binding, increases activity	1
tetramethylenedisulfotetramine	increases activity, affects binding, decreases reaction	1
arsenite	increases methylation	1
butyraldehyde	increases expression	1
benzo(e)pyrene	increases methylation	1
benzamide	increases activity, increases reaction, affects binding	1
S-(1,2-dichlorovinyl)cysteine	increases expression, affects cotreatment, decreases expression, affects response to substance	1
fipronil	affects binding, decreases activity	1
entinostat	increases expression	1
nutlin 3	affects cotreatment, increases expression	1
jinfukang	affects cotreatment, increases expression	1
Benzo(a)pyrene	affects methylation	1
Cadmium	increases expression	1
Camptothecin	increases expression	1
Cisplatin	affects cotreatment, increases expression	1
Dactinomycin	affects cotreatment, increases expression	1
Lipopolysaccharides	affects response to substance, increases expression, affects cotreatment, decreases expression	1
Methapyrilene	increases methylation	1
Methotrexate	decreases expression	1
Pregnanolone	affects binding, increases activity	1
Tetrachlorodibenzodioxin	decreases expression	1
Tretinoin	decreases expression	1
1-Methyl-4-phenylpyridinium	increases expression	1
Acrylamide	decreases expression	1

ChEMBL screening assays

203 unique, capped per target: 184 binding, 15 functional, 3 toxicity, 1 admet

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

Cellosaurus cell lines

4 cell lines: 4 induced pluripotent stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_D6PD	KUi012-A	Induced pluripotent stem cell	Male
CVCL_D6PE	KUi012-A-1	Induced pluripotent stem cell	Male
CVCL_D6PF	KUi013-A	Induced pluripotent stem cell	Female
CVCL_D6PG	KUi013-A-1	Induced pluripotent stem cell	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT03590197	PHASE4	COMPLETED	Effect of Melatonin on Seizure Outcome, Neuronal Damage and Quality of Life in Patients With Generalized Epilepsy
NCT03940326	PHASE4	COMPLETED	Levetiracetam Versus Valproate in Idiopathic Generalized Tonic-clonic Seizures
NCT00391261	PHASE4	COMPLETED	An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications.
NCT01028820	PHASE4	COMPLETED	FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders
NCT01333865	PHASE4	COMPLETED	A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders
NCT01337700	PHASE4	COMPLETED	Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism
NCT01695200	PHASE4	COMPLETED	Omega-3 Fatty Acids in Autism Spectrum Disorders
NCT02096952	PHASE4	COMPLETED	Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD
NCT02235467	PHASE4	COMPLETED	Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism
NCT02940574	PHASE4	COMPLETED	Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders
NCT03333629	PHASE4	COMPLETED	Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes
NCT03337646	PHASE4	COMPLETED	Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism
NCT03538431	PHASE4	COMPLETED	Improving Driving in Young People With Autism Spectrum Disorders
NCT03757585	PHASE4	COMPLETED	Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD)
NCT04903353	PHASE4	COMPLETED	Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole
NCT05063656	PHASE4	COMPLETED	Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin
NCT05146245	PHASE4	UNKNOWN	Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT
NCT05916339	PHASE4	RECRUITING	AWARE: Management of ADHD in Autism Spectrum Disorder
NCT05954052	PHASE4	TERMINATED	A Study of Glutathione in Children With Autism Spectrum Disorder
NCT06853665	PHASE4	RECRUITING	The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine
NCT07054697	PHASE4	COMPLETED	Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder
NCT07161804	PHASE4	COMPLETED	Pilot RCT Using Homeopathic Medicines in ASD
NCT07439042	PHASE4	NOT_YET_RECRUITING	Buspirone for Anxiety in Autistic Youth
NCT00150735	PHASE3	COMPLETED	Monotherapy With Levetiracetam in Newly Diagnosed Patients Suffering From Epilepsy
NCT00150748	PHASE3	COMPLETED	Long Term Follow up Treatment With Levetiracetam in Subjects of 4 Years and Older With Generalized Epilepsy
NCT03678753	PHASE3	COMPLETED	Randomized, Double-Blind Study to Evaluate Efficacy and Safety of Cenobamate Adjunctive Therapy in PGTC Seizures
NCT05147571	PHASE3	ACTIVE_NOT_RECRUITING	RNS System NAUTILUS Study
NCT01302964	PHASE3	COMPLETED	Mirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders
NCT01706523	PHASE3	TERMINATED	Open Label Extension Study of STX209 (Arbaclofen) in Autism Spectrum Disorders
NCT01825798	PHASE3	COMPLETED	Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD)
NCT01972074	PHASE3	COMPLETED	Behavioral and Neural Response to Memantine in Adolescents With Autism Spectrum Disorder
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NCT03197922	PHASE3	COMPLETED	Treatment of Encopresis in Children With Autism Spectrum Disorders
NCT03504917	PHASE3	TERMINATED	A Study of Balovaptan in Adults With Autism Spectrum Disorder With a 2-Year Open-Label Extension
NCT03553875	PHASE3	TERMINATED	Memantine for the Treatment of Social Deficits in Youth With Disorders of Impaired Social Interactions
NCT03640156	PHASE3	COMPLETED	Modulating Socially Adaptive Mirror System Functioning in Autism by Oxytocin
NCT03715153	PHASE3	TERMINATED	Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children Aged From 2 to Less Than 7 Years Old With Autism Spectrum Disorder.
NCT03715166	PHASE3	TERMINATED	Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children and Adolescents Aged From 7 to Less Than 18 Years Old With Autism Spectrum Disorder
NCT04233502	PHASE3	WITHDRAWN	Efficacy and Safety of Slenyto for Insomnia in Children With ASD
NCT04578756	PHASE3	COMPLETED	Open-Label, Flexible-dose Study to Evaluate the Long-Term Safety and Tolerability of Cariprazine in the Treatment of Pediatric Participants With Schizophrenia, Bipolar I Disorder, or Autism Spectrum Disorder