GABRR2
Gamma-Aminobutyric Acid Type A Receptor Subunit Rho2
Gene Information Card
| Symbol | GABRR2 |
|---|---|
| Full Name | Gamma-Aminobutyric Acid Type A Receptor Subunit Rho2 |
| Gene Type | protein-coding |
| Chromosomal Location | 6q15 |
| NCBI Gene ID | 2570 ncbi.nlm.nih.gov/gene/2570 |
| Ensembl ID | ENSG00000111886 |
| UniProt ID | P28476 |
| OMIM ID | 600732 |
| HGNC ID | 4088 |
| Aliases | GABA(A) receptor subunit rho2, GABRR2 |
Description
GABRR2 encodes the rho2 subunit of the gamma-aminobutyric acid type A (GABAA) receptor, a pentameric ligand-gated chloride channel. This subunit is predominantly expressed in the retina, where it contributes to the formation of GABAC receptors (homomeric or heteromeric with rho1). GABRR2 mediates fast inhibitory neurotransmission and is involved in visual signal processing. Mutations in GABRR2 have been linked to epilepsy and retinal dysfunction.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epilepsy, genetic generalized | Altered GABAergic inhibition due to loss-of-function variants | ClinVar, PMID: 30531953 |
| Retinal cone dystrophy | Impaired retinal GABAC receptor function | OMIM #600732, PMID: 25629078 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 12.5 | High |
| Brain (cerebellum) | 1.2 | Low |
| Brain (cortex) | 0.8 | Low |
| Testis | 0.3 | Not detected |
| Liver | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 8.4 | Moderate expression |
| SH-SY5Y (neuroblastoma) | 0.5 | Low expression |
| HEK293 (embryonic kidney) | 0.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | <0.01% | Loss of function; reduced chloride conductance |
| c.680G>A (p.Arg227His) | Missense | <0.01% | Altered ligand sensitivity |
| c.1003C>T (p.Arg335Cys) | Missense | <0.01% | Impaired receptor trafficking |
Mutation functional classification
Loss of Function (LOF)
p.Arg113Trp reduces channel conductance and GABA sensitivity.
Gain of Function (GOF)
No gain-of-function variants reported.
Dominant Negative (DN)
p.Arg335Cys may exert dominant-negative effects on receptor assembly.
View complete mutation data：
Gene Ontology (GO)
| • GABA-A receptor activity (GO:0004890) | • extracellular ligand-gated ion channel activity (GO:0005230) |
| • chloride channel activity (GO:0005254) | • gamma-aminobutyric acid signaling pathway (GO:0007214) |
| • integral component of membrane (GO:0016021) | • synapse (GO:0045202) |
Pathways
• Neuroactive ligand-receptor interaction (KEGG: hsa04080)
• GABAergic synapse (KEGG: hsa04727)
Protein Summary
The GABRR2 protein (UniProt P28476) is a 453-amino acid transmembrane subunit that forms GABA-gated chloride channels. It contains an extracellular N-terminal domain with a characteristic Cys-loop, four transmembrane domains (M1-M4), and a large intracellular loop between M3 and M4. Homomeric rho2 receptors are bicuculline-insensitive and show sustained chloride currents. The protein is essential for retinal neurotransmission and inhibitory signaling in the central nervous system.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GABRR2 Knockout HEK293 Cell Line | EDJ-KQ4664 | Human | 2570 | Details Get a Quote |
| GABRR2 Knockout HeLa Cell Line | EDJ-KQ53300 | Human | 2570 | Details Get a Quote |
| GABRR2 Knockout A-549 Cell Line | EDJ-KQ61782 | Human | 2570 | Details Get a Quote |
| GABRR2 Knockout HCT 116 Cell Line | EDJ-KQ70264 | Human | 2570 | Details Get a Quote |
