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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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GABBR2
gamma-aminobutyric acid type B receptor subunit 2
Chromosome 9 Β· 9q22.33
NCBI Gene: 9568Ensembl: ENSG00000136928.8HGNC: HGNC:4507UniProt: H9NIL8
85PubMed Papers
22Diseases
7Drugs
15Pathogenic Variants
FUNCTIONAL ROLE
Receptor
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
gamma-aminobutyric acid signaling pathwayprotein bindingGABA receptor complexG protein-coupled GABA receptor activitydevelopmental and epileptic encephalopathy, 59Epileptic encephalopathyneurodevelopmental disorder with poor language and loss of hand skillsSpasticity
✦AI Summary

GABBR2 encodes the gamma-aminobutyric acid type B receptor subunit 2, which forms a functional heterodimeric G-protein coupled receptor with GABBR1 for the inhibitory neurotransmitter GABA 1. While GABBR1 binds agonists, GABBR2 mediates G-protein coupling and downstream signaling pathways that inhibit adenylate cyclase, modulate ion channels, and regulate neurotransmitter release, playing a critical role in synaptic inhibition 2. The receptor functions both pre- and post-synaptically to fine-tune inhibitory transmission in the nervous system 2. Disease relevance is significant, as de novo mutations in GABBR2 cause developmental and epileptic encephalopathy 59 (EIEE59) and neurodevelopmental disorders with features resembling Rett syndrome, including epilepsy, intellectual disability, and motor dysfunction 13. These mutations typically reduce receptor expression and GABA-mediated inhibition, leading to seizures and developmental regression 2. Clinical significance extends beyond neurological disorders, with GABBR2 showing roles in cancer metastasis through transcriptional regulation mechanisms 4, angiogenesis regulation via glycolysis pathways 5, and immune homeostasis in the gut 6. The gene is also implicated in nicotine dependence susceptibility 7.

Sources cited
1
GABBR2 forms heterodimeric receptor with GABBR1 and de novo mutations cause developmental and epileptic encephalopathy
PMID: 29100083
2
GABBR2 mutations are associated with epilepsy and affect GABA receptor function and synaptic inhibition
PMID: 35850019
3
GABBR2 pathogenic variants cause Rett syndrome-like neurodevelopmental disorder with epilepsy and motor dysfunction
PMID: 35414446
4
GABBR2 plays a role in cancer metastasis through transcriptional regulation mechanisms
PMID: 40505831
5
GABBR2 regulates post-ischemic angiogenesis by modulating glycolysis pathways
PMID: 34422926
6
GABBR2 is involved in maintaining gut immune homeostasis through GABA signaling
PMID: 40033120
7
GABBR2 polymorphisms are associated with nicotine dependence susceptibility
PMID: 19763258
Disease Associationsβ“˜22
developmental and epileptic encephalopathy, 59Open Targets
0.74Strong
Epileptic encephalopathyOpen Targets
0.65Moderate
neurodevelopmental disorder with poor language and loss of hand skillsOpen Targets
0.62Moderate
SpasticityOpen Targets
0.60Moderate
atypical Rett syndromeOpen Targets
0.60Moderate
multiple sclerosisOpen Targets
0.57Moderate
RigidityOpen Targets
0.54Moderate
spinal cord injuryOpen Targets
0.53Moderate
genetic developmental and epileptic encephalopathyOpen Targets
0.53Moderate
cerebral palsyOpen Targets
0.53Moderate
narcolepsyOpen Targets
0.52Moderate
narcolepsy-cataplexy syndromeOpen Targets
0.49Moderate
genetic disorderOpen Targets
0.45Moderate
fragile X syndromeOpen Targets
0.38Weak
undetermined early-onset epileptic encephalopathyOpen Targets
0.38Weak
alcohol dependenceOpen Targets
0.37Weak
fibromyalgiaOpen Targets
0.37Weak
brain injuryOpen Targets
0.37Weak
CataplexyOpen Targets
0.37Weak
spinal cord diseaseOpen Targets
0.37Weak
Developmental and epileptic encephalopathy 59UniProt
Neurodevelopmental disorder with poor language and loss of hand skillsUniProt
Pathogenic Variants15
NM_005458.8(GABBR2):c.2119G>A (p.Ala707Thr)Pathogenic
Neurodevelopmental disorder with poor language and loss of hand skills|Developmental and epileptic encephalopathy, 59
β˜…β˜…β˜†β˜†2024β†’ Residue 707
NM_005458.8(GABBR2):c.2077G>T (p.Gly693Trp)Pathogenic
Developmental and epileptic encephalopathy, 59|Epileptic encephalopathy
β˜…β˜…β˜†β˜†2024β†’ Residue 693
NM_005458.8(GABBR2):c.2084G>A (p.Ser695Asn)Pathogenic
Neurodevelopmental disorder with poor language and loss of hand skills;Developmental and epileptic encephalopathy, 59|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 695
NM_005458.8(GABBR2):c.732+5G>TLikely pathogenic
Epileptic encephalopathy
β˜…β˜†β˜†β˜†2025
NM_005458.8(GABBR2):c.1723A>T (p.Thr575Ser)Likely pathogenic
Developmental and epileptic encephalopathy, 59
β˜…β˜†β˜†β˜†2025β†’ Residue 575
NM_005458.8(GABBR2):c.635G>A (p.Arg212Gln)Likely pathogenic
Inborn genetic diseases|Neurodevelopmental disorder with poor language and loss of hand skills
β˜…β˜†β˜†β˜†2025β†’ Residue 212
NM_005458.8(GABBR2):c.1001C>T (p.Thr334Ile)Likely pathogenic
Epileptic encephalopathy
β˜…β˜†β˜†β˜†2024β†’ Residue 334
NM_005458.8(GABBR2):c.2029G>A (p.Glu677Lys)Likely pathogenic
Developmental and epileptic encephalopathy, 59
β˜…β˜†β˜†β˜†2024β†’ Residue 677
NM_005458.8(GABBR2):c.72_73insACCATGGTTCAGCCACATCTGTCACTTGCCAGTATTGGTACGCATTAAAGTAACTGGTCTGAAACGTTCTATCCAAGAACGCTTGAACTTCCAAGTTACTAATGAAGTAATTCAAC (p.Leu25delinsThrMetValGlnProHisLeuSerLeuAlaSerIleGlyThrHisTer)Likely pathogenic
Developmental and epileptic encephalopathy, 59
β˜…β˜†β˜†β˜†2023β†’ Residue 25
NM_005458.8(GABBR2):c.2072A>G (p.Tyr691Cys)Likely pathogenic
Developmental and epileptic encephalopathy, 59
β˜…β˜†β˜†β˜†2023β†’ Residue 691
NM_005458.8(GABBR2):c.493G>T (p.Asp165Tyr)Likely pathogenic
Neurodevelopmental disorder with poor language and loss of hand skills
β˜…β˜†β˜†β˜†2021β†’ Residue 165
NM_005458.8(GABBR2):c.2106G>A (p.Met702Ile)Likely pathogenic
Intellectual disability
β˜…β˜†β˜†β˜†2020β†’ Residue 702
NM_005458.8(GABBR2):c.1700C>T (p.Ala567Val)Pathogenic
Epileptic encephalopathy
β˜…β˜†β˜†β˜†2020β†’ Residue 567
NM_005458.8(GABBR2):c.2114T>A (p.Ile705Asn)Pathogenic
Developmental and epileptic encephalopathy, 59
β˜†β˜†β˜†β˜†2014β†’ Residue 705
NM_005458.8(GABBR2):c.2084G>T (p.Ser695Ile)Pathogenic
Developmental and epileptic encephalopathy, 59
β˜†β˜†β˜†β˜†2014β†’ Residue 695
View on ClinVar β†—
Drug Targets7
ARBACLOFENPhase III
GABA-B receptor agonist
fragile X syndrome
ARBACLOFEN PLACARBILPhase III
GABA-B receptor agonist
fragile X syndrome
BACLOFENApproved
GABA-B receptor agonist
Spasticity
LESOGABERANPhase II
GABA-B receptor 2 agonist
gastroesophageal reflux disease
OXYBATEPhase II
GABA-B receptor agonist
opioid dependence
SGS-742Phase II
GABA-B receptor antagonist
schizophrenia
SODIUM OXYBATEApproved
GABA-B receptor agonist
Related Genes
CALCRLProtein interaction100%RAMP2Protein interaction99%RAMP1Protein interaction96%KCNJ6Protein interaction96%KCTD16Protein interaction96%GABRB3Protein interaction93%
Tissue Expression6 tissues
Brain
100%
Heart
1%
Lung
0%
Liver
0%
Bone Marrow
0%
Ovary
0%
Gene Interaction Network
Click a node to explore
GABBR2CALCRLRAMP2RAMP1KCNJ6KCTD16GABRB3
PROTEIN STRUCTURE
Preparing viewer…
PDB4PAS Β· 1.62 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.39Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.26 [0.17–0.39]
RankingsWhere GABBR2 stands among ~20K protein-coding genes
  • #5,610of 20,598
    Most Researched85
  • #618of 1,025
    FDA-Approved Drug Targets2
  • #2,452of 5,498
    Most Pathogenic Variants15
  • #1,941of 17,882
    Most Constrained (LOEUF)0.39 Β· top quartile
Genes detectedGABBR2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Genetic variations in GABA metabolism and epilepsy.
PMID: 35850019
Seizure Β· 2022
1.00
2
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
PMID: 29100083
Am J Hum Genet Β· 2017
0.90
3
Enteric GABAergic neuron-derived Ξ³-aminobutyric acid initiates expression of Igfbp7 to sustain ILC3 homeostasis.
PMID: 40033120
Nat Immunol Β· 2025
0.80
4
HSV-1 latency-associated transcript miR-H3 and miR-H4 target STXBP1 and GABBR2 genes.
PMID: 37668872
J Neurovirol Β· 2023
0.70
5
TAp73Ξ± drives cancer metastasis via PPI-mediated derepression of the neuronal HDAC2/REST-GABBR2 axis.
PMID: 40505831
Cancer Lett Β· 2025
0.60