RGS11: Regulator of G Protein Signaling 11
A key modulator of phototransduction in retinal ON-bipolar cells
Gene Information Card
| Symbol | RGS11 |
|---|---|
| Full Name | Regulator of G Protein Signaling 11 |
| Gene Type | protein-coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 8786 ncbi.nlm.nih.gov/gene/8786 |
| Ensembl ID | ENSG00000161980 |
| UniProt ID | O94810 |
| OMIM ID | 603839 |
| HGNC ID | 9997 |
| Aliases | RGS11, GAIP, RGS-R, RGS11A, RGS11B |
Description
RGS11 (Regulator of G Protein Signaling 11) encodes a member of the RGS protein family that accelerates GTP hydrolysis by Gα subunits, thereby terminating G protein-coupled receptor signaling. RGS11 is specifically expressed in retinal ON-bipolar cells where it forms a complex with R9AP and Gβ5 to regulate the phototransduction cascade. It also plays roles in neuronal signaling and synaptic transmission.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinal ON-bipolar cell dysfunction | Impaired RGS11 disrupts G protein deactivation leading to abnormal phototransduction | PMID: 17959782, 20534488 |
| Night blindness (congenital stationary) | Defective RGS11-mediated termination of Gαt signaling in bipolar cells | PMID: 20534488 |
| Schizophrenia (potential association) | Altered RGS11 expression may affect dopamine and glutamate signaling | PMID: 17329414 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 12.5 | High |
| Cerebellum | 3.2 | Low |
| Cerebral cortex | 1.8 | Low |
| Testis | 0.9 | Not detected |
| Heart | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 0.2 | Low expression |
| SH-SY5Y (neuroblastoma) | 1.1 | Moderate |
| HEK293 (embryonic kidney) | 0.3 | Low |
| U-87 MG (glioblastoma) | 0.8 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.511C>T (p.Arg171Cys) | Missense | <0.01% | Reduced GTPase-accelerating activity |
| c.724G>A (p.Gly242Ser) | Missense | <0.01% | Altered protein stability |
| c.1003delC (p.Leu335Trpfs*12) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations (e.g., p.Leu335Trpfs*12) lead to truncated protein lacking functional RGS domain.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Missense mutations (e.g., p.Arg171Cys) may interfere with Gβ5/R9AP complex assembly.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Phototransduction cascade (KEGG: hsa04744)
• G alpha (i) signaling events (Reactome: R-HSA-418594)
• RGS regulation of G protein signaling (Reactome: R-HSA-8851805)
Protein Summary
RGS11 is a 241-amino acid protein (27 kDa) containing a conserved RGS domain that binds to Gαi/o subunits. It is anchored to the plasma membrane via palmitoylation and interacts with Gβ5 and R9AP to form a macromolecular complex essential for rapid deactivation of G protein signaling in retinal ON-bipolar cells. The protein is predominantly expressed in the retina and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RGS11 Knockout HEK293 Cell Line | EDJ-KQ6364 | Human | 8786 | Details Get a Quote |
| RGS11 Knockout A-549 Cell Line | EDJ-KQ30332 | Human | 8786 | Details Get a Quote |
| RGS11 Knockout HeLa Cell Line | EDJ-KQ30333 | Human | 8786 | Details Get a Quote |
| RGS11 Knockout HCT 116 Cell Line | EDJ-KQ71957 | Human | 8786 | Details Get a Quote |
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