GABRR3
gene geneOn this page
Summary
GABRR3 (gamma-aminobutyric acid type A receptor subunit rho3, HGNC:17969) is a protein-coding gene on chromosome 3q11.2, encoding Gamma-aminobutyric acid receptor subunit rho-3 (A8MPY1). Rho subunit of the pentameric ligand-gated chloride channels responsible for mediating the effects of gamma-aminobutyric acid (GABA), the major inhibitory neurotransmitter in the brain.
The neurotransmitter gamma-aminobutyric acid (GABA) functions in the central nervous system to regulate synaptic transmission of neurons. This gene encodes one of three related subunits, which combine as homo- or hetero-pentamers to form GABA(C) receptors. In humans, some individuals contain a single-base polymorphism (dbSNP rs832032) that is predicted to inactivate the gene product.
Source: NCBI Gene 200959 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 99 total
- Druggable target: yes — 1 molecules with ChEMBL bioactivity
- MANE Select transcript:
NM_001105580
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17969 |
| Approved symbol | GABRR3 |
| Name | gamma-aminobutyric acid type A receptor subunit rho3 |
| Location | 3q11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000183185 |
| Ensembl biotype | protein_coding |
| OMIM | 618668 |
| Entrez | 200959 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 1 retained_intron, 1 protein_coding
ENST00000470589, ENST00000472788
RefSeq mRNA: 1 — MANE Select: NM_001105580
NM_001105580
CCDS: CCDS54617
Canonical transcript exons
ENST00000472788 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001948344 | 97985102 | 97986982 |
| ENSE00003293686 | 98008956 | 98009038 |
| ENSE00003305476 | 98001615 | 98001767 |
| ENSE00003328241 | 98012344 | 98012567 |
| ENSE00003378783 | 98007764 | 98007904 |
| ENSE00003398751 | 97992852 | 97993048 |
| ENSE00003552676 | 98017655 | 98017722 |
| ENSE00003622411 | 98025567 | 98025679 |
| ENSE00003643214 | 98034863 | 98034989 |
| ENSE00003963798 | 98035190 | 98035315 |
Expression profiles
Bgee: expression breadth tissue_specific, 9 present calls, max score 71.13.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2124 / max 264.7190, expressed in 7 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 43347 | 0.2032 | 7 |
| 43348 | 0.0092 | 3 |
Top tissues by expression
237 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 71.13 | gold quality |
| pancreatic ductal cell | CL:0002079 | 60.26 | silver quality |
| tibialis anterior | UBERON:0001385 | 58.74 | silver quality |
| epithelial cell of pancreas | CL:0000083 | 54.68 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 54.34 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 54.23 | gold quality |
| kidney epithelium | UBERON:0004819 | 53.93 | gold quality |
| lower lobe of lung | UBERON:0008949 | 53.85 | silver quality |
| skin of hip | UBERON:0001554 | 53.56 | silver quality |
| upper arm skin | UBERON:0004263 | 53.52 | gold quality |
| ileal mucosa | UBERON:0000331 | 53.09 | silver quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 53.08 | silver quality |
| pericardium | UBERON:0002407 | 52.00 | gold quality |
| deltoid | UBERON:0001476 | 50.80 | gold quality |
| myocardium | UBERON:0002349 | 50.25 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 47.03 | gold quality |
| quadriceps femoris | UBERON:0001377 | 46.80 | gold quality |
| vastus lateralis | UBERON:0001379 | 45.40 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 45.10 | gold quality |
| monocyte | CL:0000576 | 43.55 | silver quality |
| layer of synovial tissue | UBERON:0007616 | 43.55 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 43.37 | gold quality |
| muscle tissue | UBERON:0002385 | 43.04 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 42.87 | gold quality |
| leukocyte | CL:0000738 | 42.75 | gold quality |
| secondary oocyte | CL:0000655 | 42.57 | gold quality |
| calcaneal tendon | UBERON:0003701 | 42.44 | gold quality |
| upper leg skin | UBERON:0004262 | 41.92 | silver quality |
| middle temporal gyrus | UBERON:0002771 | 41.89 | gold quality |
| sural nerve | UBERON:0015488 | 41.54 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-3929 | yes | 82.51 |
| E-ANND-3 | yes | 4.41 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 3)
- GABA(C) receptors are specifically involved in aspects of visual image motion processing in the rat brain (PMID:15617751)
- found no significant differences in either the frequencies of the GABRR1-M26V, GABRR1- H27R, GABRR2-T455M, and GABRR3-Y205X genotypes or in the frequencies of the allelic variants of these polymorphisms in patients with essential tremor (PMID:20820800)
- These results suggest association between GABRR3 rs832032 polymorphism and the risk for restless legs syndrome , and a modifier effect of GABRA4 rs2229940 on the age of onset of restless legs syndrome . (PMID:29720720)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | gabrr3a | ENSDARG00000027153 |
| danio_rerio | gabrr3b | ENSDARG00000030750 |
| mus_musculus | Gabrr3 | ENSMUSG00000074991 |
| rattus_norvegicus | Gabrr3 | ENSRNOG00000001679 |
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), HTR3E (ENSG00000186038), HTR3D (ENSG00000186090)
Protein
Protein identifiers
Gamma-aminobutyric acid receptor subunit rho-3 — A8MPY1 (reviewed: A8MPY1)
Alternative names: GABA(A) receptor subunit rho-3, GABA(C) receptor
All UniProt accessions (1): A8MPY1
UniProt curated annotations — full annotation on UniProt →
Function. Rho subunit of the pentameric ligand-gated chloride channels responsible for mediating the effects of gamma-aminobutyric acid (GABA), the major inhibitory neurotransmitter in the brain. Rho-containing GABA-gated chloride channels are a subclass of GABA(A) receptors (GABAARs) entirely composed of rho subunits, where GABA molecules bind at the rho intersubunit interfaces. When activated by GABA, rho-GABAARs selectively allow the flow of chloride anions across the cell membrane down their electrochemical gradient.
Subunit / interactions. Three rho subunits (rho-1/GBRR1, rho-2/GBRR2 and rho-3/GBRR3) coassemble either to form functional homopentamers or heteropentamers. Forms a ternary complex with SQSTM1 and PRKCZ.
Subcellular location. Postsynaptic cell membrane. Cell membrane.
Activity regulation. Inhibited by TPMPA, a rho-specific antagonist, when forming a homopentamer.
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.
Polymorphism. The sequence shown in this entry differs from the translation of the reference genome assembly (GRCh38/hg38) due to a nonsense variant creating stop codon at position 205 in the reference genome. The sequence shown in this entry is that of variant p.Ter205Tyr, which has a frequency of about 79% in the human population according to the Genome Aggregation Database (gnomAD v3.1.2).
Similarity. Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRR3 sub-subfamily.
RefSeq proteins (1): NP_001099050* (*=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 |
| 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 (17 total): topological domain 4, transmembrane region 4, binding site 3, signal peptide 1, chain 1, region of interest 1, glycosylation site 1, disulfide bond 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-A8MPY1-F1 | 76.27 | 0.48 |
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 (3): 111 (in chain a); 175 (in chain a); 203 (in chain b)
Disulfide bonds (1): 184–198
Glycosylation sites (1): 220
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-977443 | GABA receptor activation |
MSigDB gene sets: 58 (showing top):
GOBP_INORGANIC_ANION_TRANSPORT, GOBP_GAMMA_AMINOBUTYRIC_ACID_SIGNALING_PATHWAY, GOBP_CELL_CELL_SIGNALING, GOBP_CHLORIDE_TRANSPORT, GOBP_SYNAPTIC_SIGNALING, REACTOME_TRANSMISSION_ACROSS_CHEMICAL_SYNAPSES, GOBP_TRANSMEMBRANE_TRANSPORT, GOCC_GABA_RECEPTOR_COMPLEX, GOCC_POSTSYNAPSE, GOCC_SYNAPSE, GOCC_CHLORIDE_CHANNEL_COMPLEX, GOCC_POSTSYNAPTIC_MEMBRANE, GOCC_TRANSPORTER_COMPLEX, GOCC_MEMBRANE_PROTEIN_COMPLEX, GOCC_RECEPTOR_COMPLEX
GO Biological Process (7): gamma-aminobutyric acid signaling pathway (GO:0007214), chemical synaptic transmission (GO:0007268), synaptic transmission, GABAergic (GO:0051932), chloride transmembrane transport (GO:1902476), monoatomic ion transport (GO:0006811), chloride transport (GO:0006821), monoatomic ion transmembrane transport (GO:0034220)
GO Molecular Function (6): GABA-A receptor activity (GO:0004890), GABA-gated chloride ion channel activity (GO:0022851), transmembrane signaling receptor activity (GO:0004888), monoatomic ion channel activity (GO:0005216), extracellular ligand-gated monoatomic ion channel activity (GO:0005230), chloride channel activity (GO:0005254)
GO Cellular Component (8): plasma membrane (GO:0005886), chloride channel complex (GO:0034707), postsynaptic membrane (GO:0045211), GABA-ergic synapse (GO:0098982), GABA-A receptor complex (GO:1902711), cellular_component (GO:0005575), membrane (GO:0016020), synapse (GO:0045202)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Neurotransmitter receptors and postsynaptic signal transmission | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| GABA receptor activity | 2 |
| cell-cell signaling | 1 |
| anterograde trans-synaptic signaling | 1 |
| chemical synaptic transmission | 1 |
| chloride transport | 1 |
| monoatomic anion transmembrane transport | 1 |
| transport | 1 |
| monoatomic anion transport | 1 |
| inorganic anion transport | 1 |
| monoatomic ion transport | 1 |
| transmembrane transport | 1 |
| chloride channel activity | 1 |
| transmitter-gated monoatomic ion channel activity | 1 |
| ligand-gated monoatomic anion channel activity | 1 |
| signaling receptor 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 |
| membrane | 1 |
| cell periphery | 1 |
| monoatomic ion channel complex | 1 |
| synaptic membrane | 1 |
| postsynapse | 1 |
| synapse | 1 |
| GABA receptor complex | 1 |
| cellular anatomical structure | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
368 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GABRR3 | BRS3 | P32247 | 449 |
| GABRR3 | MTNR1B | P49286 | 410 |
| GABRR3 | ZBTB34 | Q8NCN2 | 386 |
| GABRR3 | RHBDD2 | Q6NTF9 | 373 |
| GABRR3 | ABCB4 | P21439 | 353 |
| GABRR3 | JMJD4 | Q9H9V9 | 353 |
| GABRR3 | GAPVD1 | Q14C86 | 343 |
| GABRR3 | IMPG1 | Q17R60 | 339 |
| GABRR3 | DRC3 | Q9H069 | 330 |
| GABRR3 | ADH1B | P00325 | 325 |
| GABRR3 | GPR156 | Q8NFN8 | 313 |
| GABRR3 | MTNR1A | P48039 | 304 |
| GABRR3 | H0Y8X5 | H0Y8X5 | 304 |
| GABRR3 | NT5DC3 | Q86UY8 | 286 |
| GABRR3 | HS1BP3 | Q53T59 | 284 |
| GABRR3 | ADCY2 | Q08462 | 284 |
IntAct
0 interactions, top by confidence:
BioGRID (1): RAB5C (Cross-Linking-MS (XL-MS))
ESM2 similar proteins: A8MPY1, F1R8P4, O75311, O93430, P02713, P02714, P02715, P02716, P02717, P02718, P04759, P05376, P09628, P09660, P09690, P20782, P22770, P22771, P23415, P23416, P24046, P24524, P25110, P26714, P28476, P43144, P47742, P49580, P49582, P50572, P50573, P54244, P56475, P56476, P57695, Q05941, Q07001, Q08832, Q0II76, Q24352
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
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
99 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 83 |
| Likely benign | 8 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1798 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:98017722:CCT:C | acceptor_gain | 1.0000 |
| 3:98017724:T:C | acceptor_gain | 1.0000 |
| 3:98025562:CTCA:C | donor_loss | 1.0000 |
| 3:98025563:TCA:T | donor_loss | 1.0000 |
| 3:98025564:CA:C | donor_loss | 1.0000 |
| 3:98025565:A:AC | donor_gain | 1.0000 |
| 3:98025565:ACCT:A | donor_gain | 1.0000 |
| 3:98025566:C:CC | donor_gain | 1.0000 |
| 3:98025566:CCTC:C | donor_gain | 1.0000 |
| 3:98025680:C:CC | acceptor_gain | 1.0000 |
| 3:98025689:C:CT | acceptor_gain | 1.0000 |
| 3:98025689:C:T | acceptor_gain | 1.0000 |
| 3:98025690:A:T | acceptor_gain | 1.0000 |
| 3:97992855:T:A | donor_gain | 0.9900 |
| 3:98012425:T:TC | acceptor_gain | 0.9900 |
| 3:98017647:AAACT:A | donor_loss | 0.9900 |
| 3:98017648:AACTT:A | donor_loss | 0.9900 |
| 3:98017649:ACTT:A | donor_loss | 0.9900 |
| 3:98017650:CTTAC:C | donor_loss | 0.9900 |
| 3:98017651:TTA:T | donor_loss | 0.9900 |
| 3:98017652:T:TG | donor_loss | 0.9900 |
| 3:98017653:A:AT | donor_loss | 0.9900 |
| 3:98017721:CC:C | acceptor_gain | 0.9900 |
| 3:98017721:CCC:C | acceptor_loss | 0.9900 |
| 3:98017723:C:A | acceptor_loss | 0.9900 |
| 3:98017723:C:T | acceptor_gain | 0.9900 |
| 3:98017724:T:G | acceptor_loss | 0.9900 |
| 3:98025559:ATACT:A | donor_loss | 0.9900 |
| 3:98025566:CCT:C | donor_gain | 0.9900 |
| 3:98025676:TTTG:T | acceptor_gain | 0.9900 |
AlphaMissense
3139 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:98008957:G:C | S204R | 0.995 |
| 3:98008957:G:T | S204R | 0.995 |
| 3:98008959:T:G | S204R | 0.995 |
| 3:98007870:C:A | W216C | 0.993 |
| 3:98007870:C:G | W216C | 0.993 |
| 3:97992945:G:C | S337R | 0.992 |
| 3:97992945:G:T | S337R | 0.992 |
| 3:97992947:T:G | S337R | 0.992 |
| 3:98007872:A:G | W216R | 0.991 |
| 3:98007872:A:T | W216R | 0.991 |
| 3:98009019:A:G | C184R | 0.990 |
| 3:98012456:A:G | W140R | 0.990 |
| 3:98012456:A:T | W140R | 0.990 |
| 3:98012534:A:G | W114R | 0.989 |
| 3:98012534:A:T | W114R | 0.989 |
| 3:98012532:C:A | W114C | 0.988 |
| 3:98012532:C:G | W114C | 0.988 |
| 3:98001727:C:A | R265S | 0.987 |
| 3:98001727:C:G | R265S | 0.987 |
| 3:98001728:C:G | R265T | 0.987 |
| 3:98012380:C:G | R165P | 0.987 |
| 3:98001728:C:A | R265M | 0.986 |
| 3:98007883:A:G | L212P | 0.986 |
| 3:98008976:C:G | C198S | 0.986 |
| 3:98008977:A:T | C198S | 0.986 |
| 3:98008970:A:G | L200P | 0.985 |
| 3:98008975:A:C | C198W | 0.985 |
| 3:98008977:A:G | C198R | 0.985 |
| 3:98009017:G:C | C184W | 0.985 |
| 3:98009018:C:G | C184S | 0.984 |
dbSNP variants (sampled 300 via entrez): RS1000036397 (3:98028677 G>C,T), RS1000133520 (3:97988352 A>G), RS1000174004 (3:98026158 T>C), RS1000340976 (3:98013420 C>A), RS1000394992 (3:98016510 A>T), RS1000447212 (3:98016740 T>G), RS1000458229 (3:98031790 G>A,T), RS1000473364 (3:98013631 G>T), RS1000486005 (3:97988212 A>G), RS1000498901 (3:98027682 T>G), RS1000579482 (3:98023447 C>G), RS1000583802 (3:98004983 T>C), RS1000652763 (3:98020872 T>A,C), RS1000785406 (3:98018120 A>G), RS1000802573 (3:98028978 C>T)
Disease associations
OMIM: gene MIM:618668 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): restless legs syndrome (MONDO:0005391)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D012148 | Restless Legs Syndrome | C10.803; C10.886.425.800.700; C10.886.659.634; F03.870.400.800.700; F03.870.664.634 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL2109242 (PROTEIN COMPLEX GROUP)
Molecules with ChEMBL bioactivity
1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 160,188 (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 |
|---|---|---|---|
| CHEMBL96 | GAMMA-AMINOBUTYRIC ACID | 1 | 160,188 |
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: lgic — GABAA receptors
Binding affinities (BindingDB)
1 measured of 2 human assays (5 total across all organisms); most potent 1 below. Values come from heterogeneous assays and are not directly comparable.
| Ligand | Measure | Value |
|---|---|---|
| 1H-imidazol-4-ylacetic acid | KI | 150 nM |
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 6.22 | Kd | 600 | nM | t-4-AMINOCROTONIC ACID (TACA) |
| 5.77 | Kd | 1700 | nM | GAMMA-AMINOBUTYRIC ACID |
PubChem BioAssay actives
2 with measured affinity, of 11 total; 2 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 |
|---|---|---|---|---|
| (E)-4-aminobut-2-enoic acid | 71409: Agonist activity against Gamma-aminobutyric acid type C (GABA-C) receptor derived from bovine retinal RNA expressed in Xenopus oocytes | kd | 0.6000 | uM |
| .gamma.-aminobutyric acid | 71408: Agonist activity against Gamma-aminobutyric acid type C (GABA-C) receptor derived from bovine retinal RNA expressed in Xenopus oocytes | kd | 1.7000 | uM |
CTD chemical–gene interactions
5 total (human), top 5 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol F | affects cotreatment, decreases methylation | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| bisphenol S | affects cotreatment, decreases methylation | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
ChEMBL screening assays
7 unique, capped per target: 7 functional
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL679661 | Functional | Agonist activity against Gamma-aminobutyric acid C (GABA-C) receptor derived from bovine retinal RNA expressed in Xenopus oocytes | GABA-Activated ligand gated ion channels: medicinal chemistry and molecular biology. — J Med Chem |
Clinical trials (associated diseases)
233 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00200941 | PHASE4 | COMPLETED | Efficacy and Safety Study of Topiramate to Treat Restless Legs Syndrome |
| NCT00329602 | PHASE4 | COMPLETED | Long-term Study Of Ropinirole In Restless Legs Syndrome |
| NCT00344994 | PHASE4 | COMPLETED | SWITCH:Restless Legs Patients Switched to Ropinirole From Pramipexole |
| NCT00349531 | PHASE4 | COMPLETED | A Phase IV Trial With Pramipexole to Investigate the Effects on RLS Symptoms and Sleep Disturbance in Patients With RLS |
| NCT00356096 | PHASE4 | COMPLETED | Phase IV Trial With Pramipexole to Evaluate Safety and Efficacy in Patients With RLS Associated With Mood Disturbances |
| NCT00373542 | PHASE4 | COMPLETED | 12-week Polysomnography Study of Ropinirole Controlled Release for Restless Legs Syndrome |
| NCT00375284 | PHASE4 | COMPLETED | A 6 Week Trial to Study the Efficacy and Safety of a Starting Dose 0.25 mg Pramipexole (Mirapex) in Patients With RLS |
| NCT00472199 | PHASE4 | COMPLETED | Long-term Efficacy, Safety and Tolerability of Pramipexole in Patients With Idiopathic Moderate to Severe Restless Legs Syndrome (RLS) |
| NCT00584246 | PHASE4 | WITHDRAWN | Pregabalin (Lyrica) for the Treatment of Restless Legs Syndrome |
| NCT01245777 | PHASE4 | COMPLETED | Restless Legs Syndrome With Iron Deficiency or Anaemia in the 3rd Trimester of Pregnancy |
| NCT01455012 | PHASE4 | COMPLETED | Effects of Neupro on Cardiovascular Observations in Patients With Restless Legs Syndrome |
| NCT01668667 | PHASE4 | COMPLETED | Gabapentin Enacarbil (GSK1838262) Adult Restless Leg Syndrome (RLS) Post Marketing Commitment Study |
| NCT01823770 | PHASE4 | COMPLETED | Effect of Rotigotine Patch Treatment on Cardiovascular Markers in Idiopathic Restless Legs Syndrome |
| NCT01976871 | PHASE4 | COMPLETED | Switching From Oral Dopamine Agonists to Rotigotine |
| NCT01981941 | PHASE4 | COMPLETED | Post-marketing Study of Gabapentin Enacarbil to Evaluate the Effect in Restless Leg Syndrome (RLS) Patients With Moderate Renal Impairment |
| NCT02025608 | PHASE4 | COMPLETED | Autonomic Function and Cardiovascular Risk in Restless Legs Syndrome |
| NCT02117076 | PHASE4 | TERMINATED | Blinded, Randomized Study of Gabapentin (Neurontin®) and Gabapentin Enacarbil (Horizant™) in Restless Leg Syndrome |
| NCT02138357 | PHASE4 | WITHDRAWN | Butrans for Treatment of Restless Legs Syndrome |
| NCT02424695 | PHASE4 | UNKNOWN | Effects of Gabapentin Enacarbil on Arousals, Heart Rate, Blood Pressure and PLMs in Restless Legs Syndrome |
| NCT02560766 | PHASE4 | UNKNOWN | An Efficacy and Safety Evaluation of HORIZANT in Adolescents With Moderate-to-Severe Primary RLS |
| NCT02633683 | PHASE4 | UNKNOWN | An Extension Study to Evaluate the Efficacy and Safety of HORIZANT in Adolescents With Moderate-to-Severe Primary RLS |
| NCT02670161 | PHASE4 | ENROLLING_BY_INVITATION | Quality Improvement and Practice Based Research in Neurology Using the EMR |
| NCT03053427 | PHASE4 | COMPLETED | A Study of Oral Dosing of Gabapentin Enacarbil in Japanese Restless Legs Syndrome Patients |
| NCT03817554 | PHASE4 | TERMINATED | Pramipexole for Restless Leg Syndrome in Peritoneal Dialysis Patients |
| NCT04610827 | PHASE4 | TERMINATED | Oral Iron Frequency for Childhood Restless Leg Syndrome/Periodic Limb Movement Disorder |
| NCT04706091 | PHASE4 | COMPLETED | Efficacy of Suvorexant in Patients With Effectively Treated Restless Legs Syndrome and Persistent Chronic Insomnia |
| NCT05003648 | PHASE4 | ACTIVE_NOT_RECRUITING | Treating Leg Symptoms in Women With X-linked Adrenoleukodystrophy |
| NCT05529095 | PHASE4 | UNKNOWN | Sublingual Apomorphine in Refractory Restless Legs Syndrome |
| NCT05581576 | PHASE4 | UNKNOWN | Pitolisant in Refractory Restless Legs Syndrome |
| NCT00133198 | PHASE3 | COMPLETED | Efficacy and Safety of Pramipexole Compared to Placebo in the Treatment of Restless Legs Syndrome (RLS) |
| NCT00135993 | PHASE3 | COMPLETED | Four Different Transdermal Doses of Rotigotine in Subjects With Idiopathic Restless Legs Syndrome |
| NCT00136045 | PHASE3 | COMPLETED | Three Different Transdermal Doses of Rotigotine in Subjects With Idiopathic Restless Leg Syndrome |
| NCT00144209 | PHASE3 | COMPLETED | Assess Efficacy and Safety of the Dopamine Agonist Pramipexole Versus Levodopa / Benserazide (Madopar® DR) in Patients With Restless Legs Syndrome |
| NCT00152958 | PHASE3 | COMPLETED | A Study in Patients Suffering From Idiopathic Restless Legs Syndrome Who Responded to a Preceding, 6-month Treatment With Open-label Pramipexole Including Titration (0.125, 0.25, 0.5, 0.75 mg Orally q.n.) |
| NCT00197080 | PHASE3 | COMPLETED | Ropinirole XR (Extended Release) In Patients With Restless Legs Syndrome |
| NCT00225862 | PHASE3 | COMPLETED | A Clinical Research Study Evaluating Ropinirole Treatment For Restless Legs Syndrome (RLS) |
| NCT00256854 | PHASE3 | COMPLETED | Converting From Ropinirole Immediate Release (IR) To Ropinirole Controlled-Release for RLS (Restless Legs Syndrome) |
| NCT00263068 | PHASE3 | COMPLETED | An Extension Trial to Investigate Long-Term Treatment With Transdermal Rotigotine in Idiopathic Restless Legs Syndrome |
| NCT00275236 | PHASE3 | COMPLETED | A Sleep Lab Trial to Investigate the Efficacy and Safety of Transdermal Rotigotine in Subjects With Idiopathic Restless Legs Syndrome |
| NCT00275457 | PHASE3 | COMPLETED | Efficacy and Safety of Pramipexole (PPX) in Moderate to Severe Idiopathic Restless Legs Syndrome (RLS) Patients |
Related Atlas pages
- Targeted by drugs: Gaboxadol
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): restless legs syndrome