GABRB2
Gamma-aminobutyric acid type A receptor subunit beta2
Gene Information Card
| Symbol | GABRB2 |
|---|---|
| Full Name | gamma-aminobutyric acid type A receptor subunit beta2 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q34 |
| NCBI Gene ID | 2561 ncbi.nlm.nih.gov/gene/2561 |
| Ensembl ID | ENSG00000145864 |
| UniProt ID | P47870 |
| OMIM ID | 600232 |
| HGNC ID | 4082 |
| Aliases | GABA(A) receptor subunit beta-2 |
Description
GABRB2 encodes the beta2 subunit of the gamma-aminobutyric acid type A (GABA-A) receptor, a ligand-gated chloride ion channel that mediates inhibitory neurotransmission in the central nervous system. The receptor is a pentamer composed of alpha, beta, and gamma subunits; the beta2 subunit is essential for GABA binding and channel gating. Mutations in GABRB2 are associated with epilepsy, neurodevelopmental disorders, and schizophrenia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epileptic encephalopathy, early infantile, 52 | Loss-of-function mutations reduce GABA-A receptor surface expression or channel conductance, leading to neuronal hyperexcitability. | ClinVar, OMIM #617829 |
| Schizophrenia | Common variants (e.g., rs1816072) alter GABRB2 splicing or expression, disrupting inhibitory/excitatory balance in prefrontal cortex. | NCBI Gene, PMID: 16936732 |
| Autism spectrum disorder | De novo missense variants impair receptor trafficking or GABA sensitivity, contributing to synaptic imbalance. | ClinVar, PMID: 27569544 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 28.5 | High |
| Cerebral cortex | 35.2 | High |
| Hippocampus | 40.1 | High |
| Cerebellum | 22.8 | High |
| Spinal cord | 12.3 | Medium |
| Testis | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 18.7 | Neuronal model |
| U-87 MG (glioblastoma) | 9.2 | Glial expression |
| HEK293 (embryonic kidney) | 0.8 | Low endogenous |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.830G>A (p.Arg277Gln) | Missense | 0.001% (gnomAD) | Reduced GABA sensitivity; associated with epileptic encephalopathy |
| c.245G>A (p.Arg82His) | Missense | 0.0005% | Impaired receptor trafficking; linked to autism |
| c.1072C>T (p.Arg358Trp) | Missense | 0.0003% | Loss of channel function; epilepsy phenotype |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Arg277Gln) reduce channel conductance or surface expression, causing neuronal hyperexcitability and epilepsy.
Gain of Function (GOF)
Not well documented for GABRB2; gain-of-function mutations are rare in GABA-A receptor beta subunits.
Dominant Negative (DN)
Some missense mutations (e.g., p.Arg82His) co-assemble with wild-type subunits and impair overall receptor function, consistent with dominant-negative effect.
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) | • ionotropic glutamate receptor binding (GO:0035255) |
| • plasma membrane (GO:0005886) | • synapse (GO:0045202) |
| • postsynaptic membrane (GO:0045211) | • chemical synaptic transmission (GO:0007268) |
| • nervous system development (GO:0007399) |
Pathways
• GABAergic synapse (KEGG: hsa04727)
• Neuroactive ligand-receptor interaction (KEGG: hsa04080)
• Nicotine addiction (KEGG: hsa05033)
Protein Summary
The GABRB2 protein (UniProt P47870) is 474 amino acids long and contains four transmembrane domains (M1-M4). It forms part of the GABA-A receptor pentamer, where the beta2 subunit contributes to the GABA-binding site at the beta2/alpha1 interface. The large intracellular loop between M3 and M4 contains phosphorylation sites (e.g., Ser410) that modulate receptor trafficking and desensitization. Alternative splicing generates isoforms with distinct functional properties.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GABRB2 Knockout HEK293 Cell Line | EDJ-KQ4657 | Human | 2561 | Details Get a Quote |
| GABRB2 Knockout HeLa Cell Line | EDJ-KQ53292 | Human | 2561 | Details Get a Quote |
| GABRB2 Knockout A-549 Cell Line | EDJ-KQ61774 | Human | 2561 | Details Get a Quote |
| GABRB2 Knockout HCT 116 Cell Line | EDJ-KQ70257 | Human | 2561 | Details Get a Quote |
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