GABRR3
Gamma-Aminobutyric Acid Type A Receptor Subunit Rho3
Gene Information Card
| Symbol | GABRR3 |
|---|---|
| Full Name | Gamma-aminobutyric acid type A receptor subunit rho3 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q11.2 |
| NCBI Gene ID | 200959 ncbi.nlm.nih.gov/gene/200959 |
| Ensembl ID | ENSG00000183150 |
| UniProt ID | A8MPY1 |
| OMIM ID | 618397 |
| HGNC ID | 4086 |
| Aliases | GABA(A) receptor subunit rho3, GABRR3 |
Description
GABRR3 (gamma-aminobutyric acid type A receptor subunit rho3) is a protein-coding gene located on chromosome 3q11.2. It encodes the rho3 subunit of the GABA-A receptor, a pentameric ligand-gated chloride channel that mediates fast inhibitory neurotransmission in the central nervous system. The rho3 subunit is predominantly expressed in the retina and brain, contributing to GABAergic signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinal dystrophy | Altered GABAergic signaling in retinal neurons | ClinVar; limited case reports |
| Epilepsy | Impaired inhibitory neurotransmission | ClinVar; variant association studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 12.5 | Medium |
| Brain (cerebellum) | 8.3 | Low |
| Brain (cortex) | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 | 15.2 | Retinal pigment epithelial cell line |
| SH-SY5Y | 4.8 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Unknown functional impact |
| c.457G>A (p.Gly153Ser) | Missense | <0.01% | Potential loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense variants may reduce chloride conductance or receptor assembly.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • GABA-A receptor activity | • chloride channel activity |
| • ionotropic glutamate receptor binding | • plasma membrane |
| • synaptic transmission | • GABAergic |
Pathways
• GABAergic synapse
• Neuroactive ligand-receptor interaction
Protein Summary
The rho3 subunit is a component of the GABA-A receptor, forming homomeric or heteromeric chloride channels. It is characterized by a large extracellular N-terminal domain, four transmembrane domains, and a cytoplasmic loop. The protein is essential for rapid inhibitory signaling in the retina and certain brain regions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GABRR3 Knockout HEK293 Cell Line | EDJ-KQ4640 | Human | 200959 | Details Get a Quote |
| GABRR3 Knockout HeLa Cell Line | EDJ-KQ59016 | Human | 200959 | Details Get a Quote |
| GABRR3 Knockout A-549 Cell Line | EDJ-KQ67495 | Human | 200959 | Details Get a Quote |
| GABRR3 Knockout HCT 116 Cell Line | EDJ-KQ75893 | Human | 200959 | Details Get a Quote |
