GABBR2 Chromosome 9
Gamma-aminobutyric acid type B receptor subunit 2
Upload your DNA to see your personal genotypes for variants in GABBR2.
What This Gene Does
The multi-pass membrane protein encoded by this gene belongs to the G-protein coupled receptor 3 family and GABA-B receptor subfamily. The GABA-B receptors inhibit neuronal activity through G protein-coupled second-messenger systems, which regulate the release of neurotransmitters, and the activity of ion channels and adenylyl cyclase. This receptor subunit forms an active heterodimeric complex with GABA-B receptor subunit 1, neither of which is effective on its own. Allelic variants of this gene have been associated with nicotine dependence.[provided by RefSeq, Jan 2010]
Gene Info
Gene Group
Gamma-aminobutyric acid type B receptor subunits
Locus Type
gene with protein product
Location
9q22.33
Ensembl
ENSG00000136928
Associated Conditions (10)
Epileptic encephalopathy
Inborn genetic diseases
Developmental and epileptic encephalopathy
59
Neurodevelopmental disorder with poor language and loss of hand skills
Tobacco addiction
susceptibility to
Rett syndrome
GABBR2-related disorder
Intellectual disability
Key Variants
RS1003032218
Conflicting classifications of pathogenicity
Epileptic encephalopathy, Inborn genetic diseases, Epileptic encephalopathy
Health Risk
RS1008758499
Conflicting classifications of pathogenicity
Epileptic encephalopathy, Epileptic encephalopathy
Health Risk
RS1026022583
Conflicting classifications of pathogenicity
Epileptic encephalopathy, Epileptic encephalopathy
Health Risk
RS1054346747
Conflicting classifications of pathogenicity
Epileptic encephalopathy, Developmental and epileptic encephalopathy, 59
Health Risk
RS1228267111
Conflicting classifications of pathogenicity
Epileptic encephalopathy, Inborn genetic diseases, Epileptic encephalopathy
Health Risk
RS1229507395
Conflicting classifications of pathogenicity
Epileptic encephalopathy, Inborn genetic diseases, Epileptic encephalopathy
Health Risk
RS1309000004
Conflicting classifications of pathogenicity
Epileptic encephalopathy, Epileptic encephalopathy
Health Risk
RS1342775753
Conflicting classifications of pathogenicity
Epileptic encephalopathy, Epileptic encephalopathy
Health Risk
RS139429887
Conflicting classifications of pathogenicity
Epileptic encephalopathy, Inborn genetic diseases, Epileptic encephalopathy
Health Risk
RS1430262254
Conflicting classifications of pathogenicity
Epileptic encephalopathy, Inborn genetic diseases, Epileptic encephalopathy
Health Risk
RS146801036
Conflicting classifications of pathogenicity
Epileptic encephalopathy, Epileptic encephalopathy
Health Risk
RS1588169651
Conflicting classifications of pathogenicity
Epileptic encephalopathy, Neurodevelopmental disorder with poor language and loss of hand skills, Developmental and epileptic encephalopathy
Health Risk
All Variants (46)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1003032218 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Inborn genetic diseases, Epileptic encephalopathy |
| RS1008758499 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS1026022583 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS1054346747 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Developmental and epileptic encephalopathy, 59 |
| RS1228267111 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Inborn genetic diseases, Epileptic encephalopathy |
| RS1229507395 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Inborn genetic diseases, Epileptic encephalopathy |
| RS1309000004 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS1342775753 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS139429887 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Inborn genetic diseases, Epileptic encephalopathy |
| RS1430262254 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Inborn genetic diseases, Epileptic encephalopathy |
| RS146801036 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS1588169651 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Neurodevelopmental disorder with poor language and loss of hand skills, Developmental and epileptic encephalopathy |
| RS1588236381 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS1830289381 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Developmental and epileptic encephalopathy, 59 |
| RS1830934754 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Inborn genetic diseases, Epileptic encephalopathy |
| RS373578537 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS373607825 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Inborn genetic diseases, Epileptic encephalopathy |
| RS376438203 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Inborn genetic diseases, Epileptic encephalopathy |
| RS377453143 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Inborn genetic diseases, Epileptic encephalopathy |
| RS547813684 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Epileptic encephalopathy, Inborn genetic diseases |
| RS74429712 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Neurodevelopmental disorder with poor language and loss of hand skills, Developmental and epileptic encephalopathy |
| RS750467268 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS751111546 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS753673862 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS756391068 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS759633668 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Inborn genetic diseases, Epileptic encephalopathy |
| RS764365066 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Inborn genetic diseases, Epileptic encephalopathy |
| RS766347577 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Inborn genetic diseases, Epileptic encephalopathy |
| RS768482972 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Inborn genetic diseases, Epileptic encephalopathy |
| RS769962887 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Inborn genetic diseases, Epileptic encephalopathy |
| RS781275870 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Inborn genetic diseases, Epileptic encephalopathy |
| RS922847767 | Health Risk | Conflicting classifications of pathogenicity | Rett syndrome, Neurodevelopmental disorder with poor language and loss of hand skills, Inborn genetic diseases |
| RS933385444 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Developmental and epileptic encephalopathy, 59 |
| RS950352036 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS1178244073 | Health Risk | Likely pathogenic | Epileptic encephalopathy, Epileptic encephalopathy |
| RS1449813941 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with poor language and loss of hand skills, Neurodevelopmental disorder with poor language and loss of hand skills |
| RS1485329117 | Health Risk | Likely pathogenic | Epileptic encephalopathy, Epileptic encephalopathy |
| RS1564157745 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 59, Developmental and epileptic encephalopathy |
| RS1827283362 | Health Risk | Likely pathogenic | Inborn genetic diseases, Neurodevelopmental disorder with poor language and loss of hand skills, Inborn genetic diseases |
| RS1830549152 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS2491207996 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 59, Developmental and epileptic encephalopathy |
| RS1554689315 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 59, Developmental and epileptic encephalopathy |
| RS1554689320 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 59, Epileptic encephalopathy |
| RS2131462561 | Health Risk | Pathogenic | Epileptic encephalopathy, Epileptic encephalopathy |
| RS1554689313 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with poor language and loss of hand skills, Developmental and epileptic encephalopathy, 59 |
| RS1554689319 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 59, Neurodevelopmental disorder with poor language and loss of hand skills |