GABRB3
Gamma-aminobutyric acid type A receptor subunit beta3
Gene Information Card
| Symbol | GABRB3 |
|---|---|
| Full Name | gamma-aminobutyric acid type A receptor subunit beta3 |
| Gene Type | protein-coding |
| Chromosomal Location | 15q12 |
| NCBI Gene ID | 2562 ncbi.nlm.nih.gov/gene/2562 |
| Ensembl ID | ENSG00000166206 |
| UniProt ID | P28472 |
| OMIM ID | 137192 |
| HGNC ID | 4083 |
| Aliases | GABA(A) receptor subunit beta-3, MGC9051 |
Description
GABRB3 encodes the beta3 subunit of the gamma-aminobutyric acid type A (GABA-A) receptor, a pentameric ligand-gated chloride channel that mediates fast inhibitory neurotransmission in the central nervous system. The beta3 subunit is essential for receptor assembly, trafficking, and function. Mutations and altered expression of GABRB3 are associated with neurodevelopmental disorders including epilepsy, Angelman syndrome, and autism spectrum disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epilepsy, childhood absence | Loss-of-function mutations reduce inhibitory neurotransmission, leading to neuronal hyperexcitability | ClinVar, PMID: 28282448 |
| Angelman syndrome | Deletion or imprinting defects at 15q11-q13 include GABRB3; reduced beta3 subunit expression contributes to phenotype | OMIM #105830 |
| Autism spectrum disorder | Rare missense variants impair GABA-A receptor function, altering synaptic inhibition | PMID: 25217958 |
| Epileptic encephalopathy, early infantile | De novo missense mutations cause dominant-negative or gain-of-function effects on receptor kinetics | PMID: 28282448 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 38.2 | High |
| Cerebral cortex | 45.1 | High |
| Cerebellum | 32.7 | High |
| Hippocampus | 40.5 | High |
| Testis | 2.1 | Low |
| Heart | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 12.3 | Moderate expression |
| U-87 MG (glioblastoma) | 8.7 | Low expression |
| HEK293 | 0.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.830G>A (p.Arg277His) | Missense | Rare | Reduced GABA-evoked current amplitude; associated with epilepsy |
| c.764T>C (p.Ile255Thr) | Missense | Rare | Altered channel gating; linked to epileptic encephalopathy |
| c.1A>G (p.Met1?) | Start loss | Very rare | Loss of protein expression; severe neurodevelopmental phenotype |
Mutation functional classification
Loss of Function (LOF)
Missense variants that reduce channel conductance or surface expression (e.g., p.Arg277His) lead to loss of inhibitory function.
Gain of Function (GOF)
Some variants (e.g., p.Ile255Thr) increase channel open probability or prolong decay time, causing altered neuronal inhibition.
Dominant Negative (DN)
Truncating or start-loss mutations can exert dominant-negative effects by disrupting pentamer assembly.
View complete mutation data：
Gene Ontology (GO)
| • GABA-A receptor activity (GO:0004890) | • chloride channel activity (GO:0005254) |
| • extracellular ligand-gated ion channel activity (GO:0005230) | • GABAergic (GO:0051932) |
| • chemical synaptic transmission (GO:0007268) | • plasma membrane (GO:0005886) |
| • GABA-A receptor complex (GO:1902711) |
Pathways
• Neuroactive ligand-receptor interaction (KEGG: hsa04080)
• GABAergic synapse (KEGG: hsa04727)
Protein Summary
The GABRB3 protein (beta3 subunit) is a 473-amino-acid transmembrane protein that forms part of the GABA-A receptor. It contains an extracellular N-terminal domain, four transmembrane helices (M1-M4), and a large intracellular loop between M3 and M4 that mediates phosphorylation and trafficking. The beta3 subunit contributes to the GABA-binding site and is critical for receptor assembly and chloride ion conductance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GABRB3 Knockout HEK293 Cell Line | EDJ-KQ3911 | Human | 2562 | Details Get a Quote |
| GABRB3 Knockout A-549 Cell Line | EDJ-KQ27373 | Human | 2562 | Details Get a Quote |
| GABRB3 Knockout HeLa Cell Line | EDJ-KQ53293 | Human | 2562 | Details Get a Quote |
| GABRB3 Knockout HCT 116 Cell Line | EDJ-KQ70258 | Human | 2562 | Details Get a Quote |
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