Identity
HGNC
LOCATION
15q12
LOCUSID
ALIAS
DEE43,ECA5,EIEE43
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 2562
MIM: 137192
HGNC: 4083
Ensembl: ENSG00000166206
Variants:
dbSNP: 2562
ClinVar: 2562
TCGA: ENSG00000166206
COSMIC: GABRB3
RNA/Proteins
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37647766 | 2024 | Correlations of receptor desensitization of gain-of-function GABRB3 variants with clinical severity. | 1 |
| 38287309 | 2024 | Integrated analysis identifies GABRB3 as a biomarker in prostate cancer. | 0 |
| 38623967 | 2024 | Role of β3 subunit of the GABA type A receptor in triple negative breast cancer proliferation, migration, and cell cycle progression. | 0 |
| 37647766 | 2024 | Correlations of receptor desensitization of gain-of-function GABRB3 variants with clinical severity. | 1 |
| 38287309 | 2024 | Integrated analysis identifies GABRB3 as a biomarker in prostate cancer. | 0 |
| 38623967 | 2024 | Role of β3 subunit of the GABA type A receptor in triple negative breast cancer proliferation, migration, and cell cycle progression. | 0 |
| 36446382 | 2023 | Gabrb3 is required for the functional integration of pyramidal neuron subtypes in the somatosensory cortex. | 4 |
| 37019319 | 2023 | Association of GABRG3, GABRB3, HTR2A gene variants with autism spectrum disorder. | 1 |
| 36446382 | 2023 | Gabrb3 is required for the functional integration of pyramidal neuron subtypes in the somatosensory cortex. | 4 |
| 37019319 | 2023 | Association of GABRG3, GABRB3, HTR2A gene variants with autism spectrum disorder. | 1 |
| 34698933 | 2022 | GABRB3-related epilepsy: novel variants, clinical features and therapeutic implications. | 6 |
| 34906499 | 2022 | Structural mapping of GABRB3 variants reveals genotype-phenotype correlations. | 10 |
| 35383156 | 2022 | Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies. | 25 |
| 35562522 | 2022 | GABA Receptor SNPs and Elevated Plasma GABA Levels Affect the Severity of the Indian ASD Probands. | 3 |
| 34698933 | 2022 | GABRB3-related epilepsy: novel variants, clinical features and therapeutic implications. | 6 |
Citation
Dessen P
GABRB3 (gamma-aminobutyric acid type A receptor subunit beta3)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/46123/gabrb3-(gamma-aminobutyric-acid-type-a-receptor-subunit-beta3)
