GABRQ
gene geneOn this page
Summary
GABRQ (gamma-aminobutyric acid type A receptor subunit theta, HGNC:14454) is a protein-coding gene on chromosome Xq28, encoding Gamma-aminobutyric acid receptor subunit theta (Q9UN88). Theta 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 the theta subunit of the GABA A receptor. The gene is mapped to chromosome Xq28 in a cluster of genes including those that encode the alpha 3 and epsilon subunits of the GABA A receptor.
Source: NCBI Gene 55879 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 96 total
- GTEx eGene: eQTL in 8 tissues, sQTL in 0 (q < 0.05)
- ChEMBL bioactivity: 15 clinical-phase molecules tested; no curated mechanism-of-action drug
- MANE Select transcript:
NM_018558 - Notable: 96 clinical variants but no curated precision-oncology (CIViC) evidence yet
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14454 |
| Approved symbol | GABRQ |
| Name | gamma-aminobutyric acid type A receptor subunit theta |
| Location | Xq28 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000268089 |
| Ensembl biotype | protein_coding |
| OMIM | 300349 |
| Entrez | 55879 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 1 protein_coding, 1 nonsense_mediated_decay
MANE Select: ENST00000598523
Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 1
ENST00000598523, ENST00001065232
RefSeq mRNA: 1 — MANE Select: NM_018558
NM_018558
CCDS: CCDS14707
Canonical transcript exons
ENST00000598523 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002977626 | 152640378 | 152640466 |
| ENSE00003003037 | 152650428 | 152650580 |
| ENSE00003019998 | 152651526 | 152651782 |
| ENSE00003070943 | 152637895 | 152638351 |
| ENSE00003114752 | 152646948 | 152647168 |
| ENSE00003129640 | 152645527 | 152645594 |
| ENSE00003165516 | 152649742 | 152649879 |
| ENSE00003186348 | 152652541 | 152657542 |
| ENSE00003218910 | 152649251 | 152649333 |
Expression profiles
Bgee: expression breadth broad, 82 present calls, max score 76.41.
FANTOM5 (CAGE): breadth broad, TPM avg 2.7121 / max 134.1467, expressed in 535 samples.
Highest expression (Bgee): hypothalamus, primordial germ cell in gonad, tibialis anterior, anterior cingulate cortex, amygdala.
Genetic regulation across tissues (GTEx eQTL / sQTL)
GABRQ is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 8 tissues and its splicing (sQTL) in 0 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.
8 significant tissue × QTL associations:
| Tissue | QTL | q-value | Slope | Lead variant |
|---|---|---|---|---|
| Esophagus Mucosa | eqtl | 5.1e-06 | -0.15 | X:151724341:G:A |
| Thyroid | eqtl | 1.2e-04 | -0.19 | X:152734231:G:C |
| Colon Sigmoid | eqtl | 3.0e-03 | +0.45 | X:151737648:G:A |
| Skin Not Sun Exposed Suprapubic | eqtl | 6.4e-03 | -0.13 | X:151725721:G:A |
| Brain Hippocampus | eqtl | 1.1e-02 | -1.24 | X:152258967:A:G |
| Nerve Tibial | eqtl | 1.5e-02 | -0.10 | X:151700327:C:G |
| Brain Cortex | eqtl | 1.9e-02 | -0.54 | X:151677815:C:T |
| Brain Caudate basal ganglia | eqtl | 2.3e-02 | +0.27 | X:152546178:A:G |
FANTOM5 promoters
1 alternative TSS:
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 198003 | 2.7121 | 535 |
Top tissues by expression
showing 100 of 251 tissues by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| hypothalamus | UBERON:0001898 | 76.41 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 75.59 | gold quality |
| tibialis anterior | UBERON:0001385 | 69.58 | silver quality |
| anterior cingulate cortex | UBERON:0009835 | 68.14 | gold quality |
| amygdala | UBERON:0001876 | 68.09 | gold quality |
| cingulate cortex | UBERON:0003027 | 68.08 | gold quality |
| Ammon’s horn | UBERON:0001954 | 68.01 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 66.10 | silver quality |
| pancreatic ductal cell | CL:0002079 | 65.45 | silver quality |
| ectocervix | UBERON:0012249 | 64.23 | gold quality |
| endocervix | UBERON:0000458 | 64.08 | gold quality |
| prefrontal cortex | UBERON:0000451 | 63.53 | gold quality |
| nucleus accumbens | UBERON:0001882 | 63.11 | gold quality |
| buccal mucosa cell | CL:0002336 | 62.93 | gold quality |
| temporal lobe | UBERON:0001871 | 61.45 | gold quality |
| ileal mucosa | UBERON:0000331 | 60.35 | silver quality |
| ventricular zone | UBERON:0003053 | 59.92 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 59.71 | gold quality |
| cerebral cortex | UBERON:0000956 | 59.10 | gold quality |
| neocortex | UBERON:0001950 | 58.77 | gold quality |
| cortical plate | UBERON:0005343 | 58.77 | silver quality |
| uterine cervix | UBERON:0000002 | 58.62 | gold quality |
| gingival epithelium | UBERON:0001949 | 58.51 | silver quality |
| deltoid | UBERON:0001476 | 58.30 | silver quality |
| tibial nerve | UBERON:0001323 | 58.29 | gold quality |
| telencephalon | UBERON:0001893 | 57.69 | gold quality |
| ganglionic eminence | UBERON:0004023 | 57.46 | silver quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 57.02 | gold quality |
| frontal cortex | UBERON:0001870 | 56.86 | gold quality |
| forebrain | UBERON:0001890 | 56.85 | gold quality |
| gingiva | UBERON:0001828 | 56.27 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 55.59 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 55.24 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 54.38 | gold quality |
| brain | UBERON:0000955 | 54.29 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 54.14 | gold quality |
| endometrium | UBERON:0001295 | 54.12 | gold quality |
| medulla oblongata | UBERON:0001896 | 53.98 | silver quality |
| esophagus mucosa | UBERON:0002469 | 53.64 | gold quality |
| seminal vesicle | UBERON:0000998 | 53.61 | silver quality |
| embryo | UBERON:0000922 | 53.46 | silver quality |
| smooth muscle tissue | UBERON:0001135 | 53.45 | gold quality |
| spinal cord | UBERON:0002240 | 53.04 | gold quality |
| cerebellar vermis | UBERON:0004720 | 53.02 | gold quality |
| right frontal lobe | UBERON:0002810 | 52.84 | gold quality |
| caudate nucleus | UBERON:0001873 | 52.60 | gold quality |
| tibia | UBERON:0000979 | 52.30 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 52.14 | gold quality |
| substantia nigra | UBERON:0002038 | 51.88 | gold quality |
| upper leg skin | UBERON:0004262 | 51.76 | silver quality |
| midbrain | UBERON:0001891 | 51.08 | gold quality |
| vagina | UBERON:0000996 | 51.02 | gold quality |
| sural nerve | UBERON:0015488 | 50.25 | gold quality |
| quadriceps femoris | UBERON:0001377 | 50.16 | gold quality |
| putamen | UBERON:0001874 | 50.16 | gold quality |
| uterus | UBERON:0000995 | 49.72 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 49.20 | gold quality |
| hair follicle | UBERON:0002073 | 49.18 | gold quality |
| oviduct epithelium | UBERON:0004804 | 49.07 | gold quality |
| squamous epithelium | UBERON:0006914 | 49.07 | gold quality |
| olfactory bulb | UBERON:0002264 | 48.92 | gold quality |
| myocardium | UBERON:0002349 | 48.87 | gold quality |
| type B pancreatic cell | CL:0000169 | 48.83 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 48.55 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 48.50 | gold quality |
| vastus lateralis | UBERON:0001379 | 48.34 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 48.24 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 48.20 | gold quality |
| thymus | UBERON:0002370 | 48.12 | gold quality |
| muscle tissue | UBERON:0002385 | 48.10 | gold quality |
| upper arm skin | UBERON:0004263 | 48.06 | gold quality |
| cervix epithelium | UBERON:0004801 | 48.04 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 47.92 | gold quality |
| mucosa of urinary bladder | UBERON:0001259 | 47.80 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 47.45 | gold quality |
| kidney epithelium | UBERON:0004819 | 47.39 | gold quality |
| nephron tubule | UBERON:0001231 | 47.30 | gold quality |
| diaphragm | UBERON:0001103 | 47.05 | gold quality |
| gluteal muscle | UBERON:0002000 | 47.03 | gold quality |
| triceps brachii | UBERON:0001509 | 47.01 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 46.63 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 46.36 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 46.33 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 46.26 | gold quality |
| placenta | UBERON:0001987 | 46.10 | silver quality |
| prostate gland | UBERON:0002367 | 45.99 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 45.76 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 45.61 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 45.59 | gold quality |
| ventral tegmental area | UBERON:0002691 | 45.53 | gold quality |
| female reproductive system | UBERON:0000474 | 45.14 | gold quality |
| colonic epithelium | UBERON:0000397 | 44.72 | gold quality |
| cauda epididymis | UBERON:0004360 | 44.66 | gold quality |
| lymph node | UBERON:0000029 | 44.40 | gold quality |
| tonsil | UBERON:0002372 | 44.34 | silver quality |
| corpus callosum | UBERON:0002336 | 44.11 | silver quality |
| subthalamic nucleus | UBERON:0001906 | 43.93 | gold quality |
| right adrenal gland | UBERON:0001233 | 43.82 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 43.62 | gold quality |
| adult organism | UBERON:0007023 | 43.49 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.10 |
HPA expression
RNA tissue specificity: Group enriched
41 HPA tissues / cells by nTPM:
| Tissue / cell | Axis | nTPM |
|---|---|---|
| Locus coeruleus | tissue | 48.0 |
| Substantia nigra | tissue | 33.1 |
| Hippocampus | tissue | 21.0 |
| Hypothalamus | tissue | 12.4 |
| Pons | tissue | 10.2 |
| Cervix | tissue | 7.2 |
| Septum | tissue | 4.4 |
| Periaqueductal gray | tissue | 4.3 |
| Midbrain | tissue | 3.2 |
| Nucleus accumbens | tissue | 3.1 |
| Adrenal gland | tissue | 2.1 |
| Postcentral gyrus | tissue | 1.6 |
| Medulla oblongata | tissue | 1.4 |
| Testis | tissue | 1.1 |
| Endometrium 1 | tissue | 1.1 |
| Amygdala | tissue | 1.0 |
| Caudate putamen | tissue | 0.9 |
| Smooth muscle | tissue | 0.7 |
| Vagina | tissue | 0.6 |
| Seminal vesicle | tissue | 0.5 |
| Superior colliculi | tissue | 0.5 |
| Hippocampal formation | tissue | 0.5 |
| Frontal cortex | tissue | 0.4 |
| Esophagus | tissue | 0.3 |
| Choroid plexus | tissue | 0.3 |
| Prostate | tissue | 0.3 |
| Ventral forebrain | tissue | 0.3 |
| Skin 1 | tissue | 0.2 |
| Retina | tissue | 0.2 |
| Basal ganglia | tissue | 0.2 |
| Small intestine | tissue | 0.2 |
| Pituitary gland | tissue | 0.1 |
| Prefrontal cortex | tissue | 0.1 |
| Cerebral cortex | tissue | 0.1 |
| Epididymis | tissue | 0.1 |
| Thalamus | tissue | 0.1 |
| Placenta | tissue | 0.1 |
| Spinal cord | tissue | 0.1 |
| Tonsil | tissue | 0.1 |
| Olfactory bulb | tissue | 0.1 |
| Temporal cortex | tissue | 0.1 |
Brain sub-regions (HPA Brain Atlas): detected in 185; highest nTPM — Arcuate nucleus (154.3), Ventromedial nucleus (81.8), Posterior cingulate cortex (61.3), Median raphe nucleus (58.7), Nucleus of the diagonal band (52.0).
Regulation
Is transcription factor: no
Functional genomics
Regional missense constraint (gnomAD RMC): no regional variation along ENST00000598523 — one region, missense o/e 1.00.
Literature-anchored findings (GeneRIF, showing 8)
- Although GABRQ genes did not show positive association, further studies are necessary to consider the role of other GABA receptor genes in migraine susceptibility (PMID:19087248)
- single nucleotide polymorphisms studied in the GABRA4, GABRE, and GABRQ genes are not related to the risk for familial ET. (PMID:21422964)
- GABRQ plays important roles in hepatocellular carcinoma development and progression (PMID:22690081)
- We identified truncating mutations in distinct X-linked gamma-aminobutyric acid A (GABAA) receptor subunit-encoding genes, GABRQ and GABRA3.this is the first report of ASD patients with truncating mutations in GABA receptors genes. (PMID:23169495)
- data from the present study suggest a possible role of GABRQ rs3810651 single nucleotide polymorphism in the modification of the age at onset of migraine in the Caucasian Spanish people (PMID:29299688)
- The intracellular domain of GABRQ disrupts GABRB3 homomeric plasma membrane expression. (PMID:31610743)
- A pioneering study indicate role of GABRQ rs3810651 in ASD severity of Indo-Caucasoid female probands. (PMID:33772085)
- The severity of behavioural symptoms in FTD is linked to the loss of GABRQ-expressing VENs and pyramidal neurons. (PMID:35152451)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Gabrq | ENSMUSG00000031344 |
| rattus_norvegicus | Gabrq | ENSRNOG00000053402 |
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), HTR3D (ENSG00000186090), GABRA5 (ENSG00000186297), ZACN (ENSG00000186919), GABRD (ENSG00000187730), CHRNG (ENSG00000196811)
Mouse-model phenotypes
Observed phenotypes of the mouse ortholog (MGI:1888498) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 1 distinct phenotype terms.
| Mouse phenotype (MP) | Records |
|---|---|
| decreased prepulse inhibition | 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 |
| Danio rerio | O93430 | 85.6% | 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 |
|---|---|---|
| CSAG2 | protein-coding | 102723547 |
| MAGEA3-DT | ncRNA | 105373370 |
| MAGEA3 | protein-coding | 4102 |
| GABRA3 | protein-coding | 2556 |
| MIR105-2 | ncRNA | 406898 |
| MIR767 | ncRNA | 768215 |
| MIR105-1 | ncRNA | 406897 |
| MAGEA10 | protein-coding | 4109 |
Protein
Protein identifiers
Gamma-aminobutyric acid receptor subunit theta — Q9UN88 (reviewed: Q9UN88)
Alternative names: GABA(A) receptor subunit theta
All UniProt accessions (1): Q9UN88
UniProt curated annotations — full annotation on UniProt →
Function. Theta 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 interfaces. When activated by GABA, GABAARs selectively allow the flow of chloride anions across the cell membrane down their electrochemical gradient.
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. Postsynaptic cell membrane. Cell membrane.
Tissue specificity. Expressed in brain.
Activity regulation. Potentiated by etomidate, propofol, pregnanolone and pentobarbital.
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. GABRQ sub-subfamily.
RefSeq proteins (1): NP_061028* (*=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 |
| IPR008101 | GABAAt_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)
- chloride(in) = chloride(out) (RHEA:29823)
UniProt features (20 total): compositionally biased region 4, topological domain 4, transmembrane region 4, region of interest 2, sequence variant 2, signal peptide 1, chain 1, glycosylation site 1, disulfide bond 1
Structure
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UN88-F1 | 67.55 | 0.34 |
Human Protein Atlas
Protein class: Predicted membrane proteins, FDA approved drug targets, Small molecule drugs
Protein evidence: Evidence at protein level
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Disulfide bonds (1)
| Type | Positions |
|---|---|
| Disulfide bond | 183–197 |
Glycosylation sites (1)
| Type | Positions |
|---|---|
| N-linked (glcnac…) asparagine | 127 |
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: 92 (showing top):
GOBP_NEUROTRANSMITTER_TRANSPORT, GOBP_INORGANIC_ANION_TRANSPORT, GOBP_GAMMA_AMINOBUTYRIC_ACID_SIGNALING_PATHWAY, GOBP_CELL_CELL_SIGNALING, MYOD_01, GOBP_CHLORIDE_TRANSPORT, BLALOCK_ALZHEIMERS_DISEASE_UP, KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION, OCT1_06, GOBP_SYNAPTIC_SIGNALING, REACTOME_TRANSMISSION_ACROSS_CHEMICAL_SYNAPSES, GCM_CDH5, RIGGI_EWING_SARCOMA_PROGENITOR_UP, GOBP_TRANSMEMBRANE_TRANSPORT, TGGAAA_NFAT_Q4_01
GO Biological Process (8): 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), neurotransmitter transport (GO:0006836), monoatomic ion transmembrane transport (GO:0034220)
GO Molecular Function (8): transmembrane signaling receptor activity (GO:0004888), GABA-A receptor activity (GO:0004890), neurotransmitter transmembrane transporter activity (GO:0005326), GABA-gated chloride ion channel activity (GO:0022851), monoatomic ion channel activity (GO:0005216), extracellular ligand-gated monoatomic ion channel activity (GO:0005230), chloride channel activity (GO:0005254), protein binding (GO:0005515)
GO Cellular Component (7): plasma membrane (GO:0005886), chloride channel complex (GO:0034707), signaling receptor complex (GO:0043235), postsynaptic membrane (GO:0045211), GABA-A receptor complex (GO:1902711), membrane (GO:0016020), GABA-ergic synapse (GO:0098982)
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
36 GO namespaces:
| Category | Terms |
|---|---|
| GABA receptor activity | 2 |
| transport | 2 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 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 |
| monoatomic anion transport | 1 |
| inorganic anion transport | 1 |
| monoatomic ion transport | 1 |
| transmembrane transport | 1 |
| signaling receptor activity | 1 |
| neurotransmitter transport | 1 |
| transmembrane transporter activity | 1 |
| chloride channel activity | 1 |
| transmitter-gated monoatomic ion channel activity | 1 |
| ligand-gated monoatomic anion channel activity | 1 |
| monoatomic ion transmembrane transporter activity | 1 |
| channel activity | 1 |
| ligand-gated monoatomic ion channel activity | 1 |
| monoatomic anion channel activity | 1 |
| chloride transmembrane transporter activity | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| monoatomic ion channel complex | 1 |
| protein-containing complex | 1 |
| synaptic membrane | 1 |
| postsynapse | 1 |
| GABA receptor complex | 1 |
| cellular anatomical structure | 1 |
| synapse | 1 |
Experimentally-supported GO annotations
GO terms backed by direct experimental evidence (ECO experimental codes) — 3 of 23 annotations. The rest are phylogenetic / computational / electronic (IEA).
3 experimentally-supported GO terms:
| GO term | NS | Evidence |
|---|---|---|
| signaling receptor complex | CC | direct assay |
| GABA-A receptor activity | MF | direct assay |
| GABA-gated chloride ion channel activity | MF | direct assay |
Protein interactions and networks
STRING
showing 15 of 688 interactions by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GABRQ | ADRA1A | P35348 | 534 |
| GABRQ | SLC18A2 | Q05940 | 532 |
| GABRQ | TH | P07101 | 526 |
| GABRQ | GABBR2 | O75899 | 463 |
| GABRQ | FEZF2 | Q8TBJ5 | 460 |
| GABRQ | DRD3 | P35462 | 404 |
| GABRQ | DRD2 | P14416 | 385 |
| GABRQ | SEZ6 | Q53EL9 | 372 |
| GABRQ | ID3 | Q02535 | 370 |
| GABRQ | STON2 | Q8WXE9 | 369 |
| GABRQ | SLC38A11 | Q08AI6 | 365 |
| GABRQ | ATF3 | P18847 | 364 |
| GABRQ | SLC6A11 | P48066 | 360 |
| GABRQ | SLC47A1 | Q96FL8 | 357 |
| GABRQ | ID1 | P41134 | 357 |
IntAct
Human interaction partners of GABRQ in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).
2 partners by confidence:
| Partner | Interaction type | MIscore | Records |
|---|---|---|---|
| GNMT | physical association | 0.560 | 3 |
| TXNDC12 | physical association | 0.400 | 1 |
BioGRID (5 interactions; top human partners by supporting records): CLEC2B (Affinity Capture-MS), GNMT (Two-hybrid), HLA-G (Affinity Capture-MS), KIAA1429 (Affinity Capture-RNA), TXNDC12 (Cross-Linking-MS (XL-MS))
Protein complexes (CORUM) (1)
Experimentally-characterized complexes this protein is a subunit of (★ = the complex contains a known drug target).
1 complexes by size:
| Complex | Subunits | Members |
|---|---|---|
| ★ GABRA3-GABRB1-GABRE-GABRQ complex | 4 | GABRA3, GABRB1, GABRE, GABRQ |
Ligand–receptor pairs (CellPhoneDB) (1)
Curated ligand–receptor partners (cell-cell communication), distinct from the protein–protein interactions above.
1 ligand–receptor pairs:
| Partner | This gene’s role | Signaling class |
|---|---|---|
| GABRA3;GABRB3;GABRQ | Signaling by GABA |
Disease & clinical
Genetic variants
Variant evidence for GABRQ: 96 ClinVar records (0 pathogenic / likely pathogenic); 1 PharmGKB clinical annotation.
ClinVar
96 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 62 |
| Likely benign | 9 |
| Benign | 0 |
SpliceAI
Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 36 predictions of 695):
| Position(s) | Effect | Δscore | Sites |
|---|---|---|---|
| X:152638353 | donor_loss | 1.0000 | 2 |
| X:152645525–152645526 | acceptor_loss | 1.0000 | 6 |
| X:152647169–152647170 | donor_loss | 1.0000 | 4 |
| X:152649236 | acceptor_gain | 1.0000 | |
| X:152649246 | acceptor_gain | 1.0000 | |
| X:152649249–152649250 | acceptor_loss | 1.0000 | 6 |
| X:152649334–152649335 | donor_loss | 1.0000 | 5 |
| X:152649740–152649741 | acceptor_loss | 1.0000 | 5 |
| X:152649880–152649881 | donor_loss | 1.0000 | 4 |
| X:152638352 | donor_loss | 0.9900 | 2 |
AlphaMissense
883 missense substitutions predicted likely pathogenic (of 4,182 scored), across 241 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 |
|---|---|---|---|
| D116 | 8 | 0.983 | 0.995 |
| D210 | 8 | 0.940 | 0.988 |
| F287 | 8 | 0.923 | 0.988 |
| D193 | 8 | 0.913 | 0.968 |
| D142 | 8 | 0.910 | 0.957 |
| D329 | 8 | 0.887 | 0.966 |
| S203 | 8 | 0.884 | 0.996 |
| N160 | 8 | 0.869 | 0.955 |
| D71 | 8 | 0.867 | 0.923 |
| D608 | 8 | 0.864 | 0.914 |
| F615 | 8 | 0.861 | 0.939 |
| F145 | 8 | 0.860 | 0.983 |
| D131 | 8 | 0.857 | 0.943 |
| F163 | 8 | 0.832 | 0.976 |
| F338 | 8 | 0.822 | 0.954 |
| W114 | 7 | 0.990 | 0.997 |
| W139 | 7 | 0.986 | 0.997 |
| C197 | 7 | 0.972 | 0.989 |
| C183 | 7 | 0.971 | 0.986 |
| W215 | 7 | 0.948 | 0.988 |
HPA cancer prognostics
RNA cancer specificity: Cancer enhanced (Testicular Germ Cell Tumor)
Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.
2 prognostic cancer types:
| Cancer | Prognostic | p-value |
|---|---|---|
| Breast Invasive Carcinoma (TCGA) | unfavorable | 9.58e-05 |
| Lung Squamous Cell Carcinoma (validation) | favorable | 0.000796 |
Disease associations
OMIM: gene MIM:300349 | disease phenotypes:
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (2): CHEMBL2093872 (PROTEIN COMPLEX GROUP), CHEMBL3885575 (PROTEIN COMPLEX)
Molecules with ChEMBL bioactivity
Phase ≥1, by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 447,242 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).
15 molecules by phase:
| Molecule | Name | Phase | Patents |
|---|---|---|---|
| CHEMBL3183409 | APALUTAMIDE | 4 | 4,347 |
| CHEMBL207538 | BREXANOLONE | 4 | 1,647 |
| CHEMBL452 | CLONAZEPAM | 4 | 33,611 |
| CHEMBL12 | DIAZEPAM | 4 | 92,923 |
| CHEMBL1082407 | ENZALUTAMIDE | 4 | 10,210 |
| CHEMBL407 | FLUMAZENIL | 4 | 7,208 |
| CHEMBL1568698 | GANAXOLONE | 4 | 1,695 |
| CHEMBL1544 | LIOTHYRONINE | 4 | 23,991 |
| CHEMBL454095 | ABECARNIL | 2 | 566 |
| CHEMBL8260 | BAICALEIN | 2 | 8,718 |
| CHEMBL268254 | DELORAZEPAM | 2 | 1,315 |
| CHEMBL275638 | FLAVONE | 2 | 89,655 |
| CHEMBL287631 | PROGABIDE | 2 | 3,882 |
| CHEMBL96 | GAMMA-AMINOBUTYRIC ACID | 1 | 161,661 |
| CHEMBL273481 | MUSCIMOL | 1 | 5,813 |
PharmGKB: 1 entry (CPIC guideline: no)
PharmGKB clinical annotations
1 annotations by evidence level (1 strongest → 4):
| Variant | Association | Level | Drugs | Phenotypes |
|---|---|---|---|---|
| rs3810651 | Efficacy | 3 | venlafaxine | Major Depressive Disorder |
PharmGKB variants
1 variants:
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs3810651 | GABRQ | 3 | 3.00 | 1 | venlafaxine |
PharmGKB variant annotations
Per-publication pharmacogenomic findings for this gene (significant associations).
1 published findings:
| Variant | Drug(s) | Category | Finding | PMID |
|---|---|---|---|---|
| rs3810651 | venlafaxine | Efficacy | Genotypes AA + AT are associated with increased response to venlafaxine in people with Depressive Disorder, Major as compared to genotype TT. | PMID:23394390 |
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: lgic — GABAA receptors
ChEMBL bioactivities
475 potent at pChembl≥5 of 512 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
409 with measured affinity, of 877 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
15 total (human), top 15 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects expression, affects cotreatment, decreases expression, increases abundance | 2 |
| Valproic Acid | decreases methylation, increases expression | 2 |
| butyraldehyde | increases expression | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| abrine | decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Arsenic | affects cotreatment, decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Lead | affects expression | 1 |
| Manganese | increases abundance, affects cotreatment, decreases expression | 1 |
| Cyclosporine | decreases methylation | 1 |
| Cadmium Chloride | decreases expression, increases abundance | 1 |
ChEMBL screening assays
186 unique, capped per target: 167 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* |
Clinical trials (associated diseases)
Via MONDO — disease-level, not drug-specific.
Predicted chemistry — Sugi Predict
The predicted patent-compound landscape for GABRQ across ~30M SureChEMBL compounds — explore on Sugi Predict.
Related Atlas pages
- Pharmacogenomically associated drugs (drugs whose metabolism/response is associated with variants in this gene (PharmGKB) — not drugs that target it): Venlafaxine