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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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GABRD
gamma-aminobutyric acid type A receptor subunit delta
Chromosome 1 · 1p36.33
NCBI Gene: 2563Ensembl: ENSG00000187730.10HGNC: HGNC:4084UniProt: A8K496
42PubMed Papers
22Diseases
72Drugs
4Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
chloride transmembrane transportprotein bindinggamma-aminobutyric acid signaling pathwayGABA-ergic synapseGeneralized epilepsy with febrile seizures-plusepilepsymigraine disordermajor depressive disorder
✦AI Summary

GABRD encodes the delta subunit of the GABA type A receptor (GABAAR), a pentameric chloride channel fundamental to GABAergic inhibitory neurotransmission in the brain 1. The delta subunit forms functional channels that selectively permit chloride ion flow across neuronal membranes in response to GABA binding 1. Unlike synaptic receptors, delta-containing GABAARs localize to extrasynaptic positions in hippocampus and cerebellar granule cells, mediating tonic rather than phasic inhibition 1. These receptors may simultaneously bind GABA and histamine, potentially regulating sleep-wake cycles 1. GABRD mutations cause developmental and epileptic encephalopathies through gain-of-function mechanisms affecting extrasynaptic GABAAR signaling 2. GABRD loss in 1p36 deletions contributes to seizures, developmental delay, and psychomotor retardation in affected individuals 34. Polymorphisms in GABRD associate with childhood-onset mood disorders, particularly in males 5. Beyond neurotransmission, GABRD exhibits oncogenic properties in gastric and colon cancers. In gastric cancer, elevated GABRD promotes proliferation and migration through CCND1-dependent mechanisms while suppressing p53-dependent apoptosis 6. In breast cancer, GABRD activation downstream of GPT2-derived GABA initiates PKC-CREB signaling, driving metastasis via calcium channel activation 7. This dual role—essential for normal inhibitory neurotransmission yet pathogenic when dysregulated—positions GABRD as a therapeutic target across neurological and malignant diseases.

Sources cited
1
GABRD is the delta subunit of pentameric GABAAR; channels mediate GABA-dependent chloride conductance; delta-containing receptors may bind both GABA and histamine
PMID: 35355020
2
GABRD variants cause developmental and epileptic encephalopathies through gain-of-function of extrasynaptic GABAAR
PMID: 38458029
3
GABRD maps to 1p36.33 critical region; GABRD loss in 1p36 deletions causes seizures, developmental delay, and psychomotor retardation
PMID: 12119096
4
GABRD haploinsufficiency implicated in phenotypes of 1p36 deletion syndrome
PMID: 26345236
5
GABRD polymorphisms associate with childhood-onset mood disorders, particularly in males
PMID: 20561060
6
GABRD is upregulated in gastric cancer; promotes proliferation and migration through CCND1; GABRD knockdown induces p53-dependent apoptosis
PMID: 40145254
7
GABRD expression is upregulated in colon cancer; elevated GABRD expression associates with poor prognosis
PMID: 34194536
8
GABRD delta subunit is necessary for GPT2/GABA-induced breast cancer metastasis via PKC-CREB pathway activation
PMID: 36923530
9
Delta-containing GABAARs are targets for modulation in depression treatment approaches
PMID: 37543478
Disease Associationsⓘ22
Generalized epilepsy with febrile seizures-plusOpen Targets
0.74Strong
epilepsyOpen Targets
0.61Moderate
migraine disorderOpen Targets
0.61Moderate
major depressive disorderOpen Targets
0.61Moderate
insomniaOpen Targets
0.61Moderate
anxiety disorderOpen Targets
0.60Moderate
panic disorderOpen Targets
0.60Moderate
AgitationOpen Targets
0.60Moderate
alcohol dependenceOpen Targets
0.59Moderate
AnxietyOpen Targets
0.59Moderate
SeizureOpen Targets
0.59Moderate
postpartum depressionOpen Targets
0.58Moderate
PainOpen Targets
0.57Moderate
status epilepticusOpen Targets
0.57Moderate
Lennox-Gastaut syndromeOpen Targets
0.56Moderate
generalized anxiety disorderOpen Targets
0.56Moderate
HeadacheOpen Targets
0.55Moderate
depressive disorderOpen Targets
0.53Moderate
Stiff-Person syndromeOpen Targets
0.53Moderate
partial epilepsyOpen Targets
0.51Moderate
Epilepsy, idiopathic generalized 10UniProt
Generalized epilepsy with febrile seizures plus 5UniProt
Pathogenic Variants4
NM_000815.5(GABRD):c.635C>T (p.Ala212Val)Likely pathogenic
not provided|Epilepsy, idiopathic generalized, susceptibility to, 10|GABRD-Related Disorders
★★☆☆2025→ Residue 212
NM_000815.5(GABRD):c.923A>G (p.Lys308Arg)Likely pathogenic
Epilepsy, idiopathic generalized, susceptibility to, 10
★☆☆☆2025→ Residue 308
NM_000815.5(GABRD):c.770C>T (p.Pro257Leu)Likely pathogenic
Idiopathic generalized epilepsy
★☆☆☆2025→ Residue 257
NM_000815.5(GABRD):c.778C>G (p.Leu260Val)Pathogenic
Epilepsy, idiopathic generalized, susceptibility to, 10
★☆☆☆2022→ Residue 260
View on ClinVar ↗
Drug Targets72
ABP-700Phase II
GABA-A receptor; anion channel agonist
ACAMPROSATEApproved
Glutamate [NMDA] receptor antagonist
alcohol dependence
ACAMPROSATE CALCIUMApproved
Glutamate [NMDA] receptor antagonist
alcohol dependence
ADIPIPLONPhase II
GABA-A receptor; anion channel partial agonist
sleep-wake disorder
ALPRAZOLAMApproved
GABA-A receptor; anion channel positive allosteric modulator
panic disorder
BREXANOLONEApproved
GABA-A receptor; anion channel positive allosteric modulator
BUTABARBITALApproved
GABA-A receptor; anion channel positive allosteric modulator
insomnia
BUTALBITALApproved
GABA-A receptor; anion channel positive allosteric modulator
migraine disorder
CENOBAMATEApproved
Sodium channel alpha subunit inhibitor
Seizure
CHLORDIAZEPOXIDEApproved
GABA-A receptor; anion channel positive allosteric modulator
anxiety disorder
CHLORDIAZEPOXIDE HYDROCHLORIDEApproved
GABA-A receptor; anion channel positive allosteric modulator
CIPEPOFOLPhase III
GABA-A receptor; anion channel agonist
CLOBAZAMApproved
GABA-A receptor; anion channel positive allosteric modulator
CLOMETHIAZOLEPhase III
GABA-A receptor; anion channel positive allosteric modulator
stroke
CLONAZEPAMApproved
GABA-A receptor; anion channel positive allosteric modulator
CLORAZEPATE DIPOTASSIUMApproved
GABA-A receptor; anion channel positive allosteric modulator
CLORAZEPIC ACIDApproved
GABA-A receptor; anion channel positive allosteric modulator
anxiety disorder
CLOTIAZEPAMApproved
GABA-A receptor; anion channel positive allosteric modulator
anxiety disorder
DARIGABATPhase II
GABA-A receptor; anion channel agonist
Chronic pain
DESFLURANEApproved
Potassium channel subfamily K member 10 opener
DIAZEPAMApproved
GABA-A receptor; anion channel positive allosteric modulator
Agitation
ENFLURANEApproved
Potassium channel subfamily K member 10 opener
ESTAZOLAMApproved
GABA-A receptor; anion channel positive allosteric modulator
insomnia
ESZOPICLONEApproved
GABA-A receptor; anion channel positive allosteric modulator
insomnia
ETHCHLORVYNOLApproved
GABA-A receptor; anion channel positive modulator
insomnia
ETIFOXINEApproved
GABA-A receptor; anion channel antagonist
Anxiety
ETOMIDATEApproved
GABA-A receptor; anion channel positive modulator
FLUMAZENILApproved
GABA-A receptor; anion channel allosteric antagonist
FLUNITRAZEPAMApproved
GABA-A receptor; anion channel positive allosteric modulator
insomnia
FLURAZEPAMApproved
GABA-A receptor; anion channel positive allosteric modulator
insomnia
FLURAZEPAM HYDROCHLORIDEApproved
GABA-A receptor; anion channel positive allosteric modulator
GABOXADOLApproved
Gamma-aminobutyric acid receptor subunit alpha-4/beta3/delta agonist
insomnia
GANAXOLONEApproved
GABA-A receptor; anion channel positive allosteric modulator
epilepsy
GLUTETHIMIDEApproved
GABA-A receptor; anion channel positive modulator
insomnia
HALAZEPAMApproved
GABA-A receptor; anion channel positive allosteric modulator
anxiety disorder
HALOTHANEApproved
Potassium channel subfamily K member 10 opener
ISOFLURANEApproved
Potassium channel subfamily K member 2 opener
LORAZEPAMApproved
GABA-A receptor; anion channel positive allosteric modulator
major depressive disorder
MEPROBAMATEApproved
GABA-A receptor; anion channel agonist
anxiety disorder
METHAQUALONEUNKNOWN
GABA-A receptor; anion channel positive allosteric modulator
insomnia
METHAQUALONE HYDROCHLORIDEUNKNOWN
GABA-A receptor; anion channel positive allosteric modulator
METHARBITALApproved
GABA-A receptor; anion channel positive allosteric modulator
epilepsy
METHOHEXITALApproved
GABA-A receptor; anion channel positive allosteric modulator
METHOXYFLURANEApproved
GABA-A receptor; anion channel positive modulator
METHYPRYLONApproved
GABA-A receptor; anion channel positive allosteric modulator
insomnia
MIDAZOLAMApproved
GABA-A receptor; anion channel positive allosteric modulator
epilepsy
MIDAZOLAM HYDROCHLORIDEApproved
GABA-A receptor; anion channel positive allosteric modulator
amnesia
OXAZEPAMApproved
GABA-A receptor; anion channel positive allosteric modulator
Agitation
PADSEVONILPhase II/III
GABA-A receptor; anion channel partial agonist
epilepsy
PAGOCLONEPhase II/III
GABA-A receptor; anion channel positive allosteric modulator
anxiety disorder
PENTOBARBITALApproved
GABA-A receptor; anion channel positive allosteric modulator
insomnia
PENTOBARBITAL SODIUMUNKNOWN
GABA-A receptor; anion channel positive allosteric modulator
PRAZEPAMApproved
GABA-A receptor; anion channel positive allosteric modulator
anxiety disorder
PRIMIDONEApproved
GABA-A receptor; anion channel positive allosteric modulator
epilepsy
PROPOFOLApproved
GABA-A receptor; anion channel positive allosteric modulator
QUAZEPAMApproved
GABA-A receptor; anion channel positive allosteric modulator
REMIMAZOLAMApproved
GABA-A receptor; anion channel positive allosteric modulator
REMIMAZOLAM BESYLATEApproved
GABA-A receptor; anion channel positive allosteric modulator
RESEQUINILPhase II
GABA-A receptor; anion channel inverse agonist
epilepsy
SECOBARBITALApproved
GABA-A receptor; anion channel positive allosteric modulator
SECOBARBITAL SODIUMUNKNOWN
GABA-A receptor; anion channel positive allosteric modulator
SEVOFLURANEApproved
Glycine receptor (alpha-1/beta) positive modulator
TALBUTALApproved
GABA-A receptor; anion channel positive allosteric modulator
Irritability
TEMAZEPAMApproved
GABA-A receptor; anion channel positive allosteric modulator
insomnia
TETRAZEPAMUNKNOWN
GABA-A receptor; anion channel positive allosteric modulator
THIAMYLALApproved
GABA-A receptor; anion channel positive allosteric modulator
THIOPENTALApproved
GABA-A receptor; anion channel positive allosteric modulator
THIOPENTAL SODIUMPhase I
GABA-A receptor; anion channel positive allosteric modulator
amnesia
TOPIRAMATEApproved
Glutamate receptor ionotropic AMPA antagonist
epilepsy
TRIAZOLAMApproved
GABA-A receptor; anion channel positive allosteric modulator
TRICLOFOS SODIUMApproved
GABA-A receptor; anion channel positive modulator
insomnia
ZURANOLONEApproved
GABA-A receptor; anion channel positive allosteric modulator
postpartum depression
Related Genes
EFHC1Protein interaction92%NSFProtein interaction91%PLCL1Protein interaction91%SLC6A13Protein interaction90%HAP1Protein interaction90%TRAK2Protein interaction90%
Tissue Expression6 tissues
Brain
100%
Heart
8%
Lung
3%
Liver
1%
Ovary
1%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
GABRDEFHC1NSFPLCL1SLC6A13HAP1TRAK2
PROTEIN STRUCTURE
Preparing viewer…
PDB7QN5 · 2.50 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.79LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.56 [0.40–0.79]
RankingsWhere GABRD stands among ~20K protein-coding genes
  • #9,872of 20,598
    Most Researched42
  • #31of 1,025
    FDA-Approved Drug Targets58 · top 5%
  • #3,808of 5,498
    Most Pathogenic Variants4
  • #6,470of 17,882
    Most Constrained (LOEUF)0.79
Genes detectedGABRD
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
GABA
PMID: 37543478
Trends Pharmacol Sci · 2023
1.00
2
1p36 deletion syndrome: an update.
PMID: 26345236
Appl Clin Genet · 2015
0.90
3
GABRD Accelerates Tumour Progression via Regulating CCND1 Signalling Pathway in Gastric Cancer.
PMID: 40145254
J Cell Mol Med · 2025
0.80
4
The human gamma-aminobutyric acid A receptor delta (GABRD) gene: molecular characterisation and tissue-specific expression.
PMID: 12119096
Gene · 2002
0.70
5
Research for Expression and Prognostic Value of GABRD in Colon Cancer and Coexpressed Gene Network Construction Based on Data Mining.
PMID: 34194536
Comput Math Methods Med · 2021
0.60