GABRA3
Gamma-aminobutyric acid type A receptor subunit alpha3
Gene Information Card
| Symbol | GABRA3 |
|---|---|
| Full Name | gamma-aminobutyric acid type A receptor subunit alpha3 |
| Gene Type | protein-coding |
| Chromosomal Location | Xq28 |
| NCBI Gene ID | 2556 ncbi.nlm.nih.gov/gene/2556 |
| Ensembl ID | ENSG00000011677 |
| UniProt ID | P34903 |
| OMIM ID | 305660 |
| HGNC ID | 4077 |
| Aliases | GABRA3, GABA(A) receptor subunit alpha-3 |
Description
GABRA3 encodes the alpha3 subunit of the gamma-aminobutyric acid type A (GABA-A) receptor, a ligand-gated chloride channel that mediates inhibitory neurotransmission in the central nervous system. The receptor is a pentamer composed of alpha, beta, and gamma subunits. GABRA3 is highly expressed in brain regions such as the hippocampus, cortex, and amygdala. Mutations in GABRA3 are associated with X-linked intellectual disability, epilepsy, and anxiety disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked intellectual disability with or without seizures | Loss-of-function mutations impair GABAergic inhibition, leading to neuronal hyperexcitability | ClinVar, OMIM |
| Epileptic encephalopathy, early infantile | De novo missense variants reduce channel conductance | ClinVar, OMIM |
| Anxiety disorders | Altered GABRA3 expression in amygdala affects stress response | NCBI Gene, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | High |
| Hippocampus | 15.2 | High |
| Amygdala | 14.8 | High |
| Cerebellum | 6.3 | Medium |
| Spinal cord | 4.1 | Medium |
| Testis | 0.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.9 | Moderate expression |
| U-87 MG (glioblastoma) | 5.2 | Low expression |
| HEK293 (embryonic kidney) | 0.3 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.890G>A (p.Arg297Gln) | Missense | <0.01% | Reduced GABA sensitivity; associated with intellectual disability |
| c.1003C>T (p.Arg335Trp) | Missense | <0.01% | Loss of function; epileptic encephalopathy |
| c.1432delC (p.Leu478Trpfs*12) | Frameshift | <0.01% | Premature truncation; X-linked intellectual disability |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift variants that reduce channel conductance or protein stability, leading to impaired inhibitory neurotransmission.
Gain of Function (GOF)
Not reported in GABRA3.
Dominant Negative (DN)
Not reported in GABRA3.
View complete mutation data：
Gene Ontology (GO)
| • GABA-gated chloride ion channel activity (GO:0022851) | • Extracellular ligand-gated ion channel activity (GO:0005230) |
| • Chloride transmembrane transport (GO:1902476) | • GABAergic (GO:0051932) |
| • Plasma membrane (GO:0005886) | • GABA-A receptor complex (GO:1902711) |
Pathways
• GABAergic synapse (KEGG:04727)
• Neuroactive ligand-receptor interaction (KEGG:04080)
• Nicotine addiction (KEGG:05033)
Protein Summary
The GABRA3 protein (UniProt P34903) is 492 amino acids long and contains four transmembrane domains (M1-M4) characteristic of Cys-loop receptors. It forms part of the GABA-A receptor pentamer, typically assembling with beta and gamma subunits. The alpha3 subunit confers benzodiazepine sensitivity and is critical for phasic and tonic inhibition in the brain. Post-translational modifications include N-glycosylation at Asn-47 and Asn-104.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GABRA3 Knockout HEK293 Cell Line | EDJ-KQ4653 | Human | 2556 | Details Get a Quote |
| GABRA3 Knockout HeLa Cell Line | EDJ-KQ27344 | Human | 2556 | Details Get a Quote |
| GABRA3 Knockout A-549 Cell Line | EDJ-KQ61770 | Human | 2556 | Details Get a Quote |
| GABRA3 Knockout HCT 116 Cell Line | EDJ-KQ70252 | Human | 2556 | Details Get a Quote |
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