RGS9: Regulator of G Protein Signaling 9
Key modulator of phototransduction and dopamine signaling
Gene Information Card
| Symbol | RGS9 |
|---|---|
| Full Name | Regulator of G Protein Signaling 9 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q24.1 |
| NCBI Gene ID | 8787 ncbi.nlm.nih.gov/gene/8787 |
| Ensembl ID | ENSG00000108370 |
| UniProt ID | O75916 |
| OMIM ID | 604067 |
| HGNC ID | 10000 |
| Aliases | RGS9L, PERRS, RGS9-1, RGS9-2 |
Description
RGS9 encodes a member of the regulator of G-protein signaling (RGS) family. This protein accelerates the GTPase activity of G-protein alpha subunits, thereby terminating signaling. Two major splice variants exist: RGS9-1, expressed in retinal photoreceptors, and RGS9-2, expressed in the striatum and brain. RGS9-1 is essential for rapid phototransduction recovery, while RGS9-2 modulates dopamine and opioid signaling. Mutations in RGS9 cause bradyopsia (slow recovery of vision after light exposure).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bradyopsia (OMIM #608415) | Loss-of-function mutations in RGS9 impair GTPase-accelerating activity in retinal photoreceptors, leading to delayed phototransduction recovery. | ClinVar, OMIM |
| Dyskinesia (drug-induced) | RGS9-2 deficiency in striatum alters dopamine D2 receptor signaling, linked to L-DOPA-induced dyskinesia in Parkinson disease models. | PubMed, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 0.0 | Not detected (nTPM from GTEx; RGS9-1 is retina-specific but low in bulk RNA-seq) |
| Brain - Nucleus accumbens (basal ganglia) | 4.2 | Low |
| Brain - Caudate (basal ganglia) | 3.8 | Low |
| Brain - Putamen (basal ganglia) | 3.5 | Low |
| Testis | 0.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 0.0 | Not expressed |
| SH-SY5Y (neuroblastoma) | 0.1 | Not detected |
| HEK293 (embryonic kidney) | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | Missense | Rare | Loss of GTPase-accelerating activity; associated with bradyopsia |
| c.565C>T (p.Arg189Trp) | Missense | Rare | Impaired protein stability; bradyopsia |
| c.769G>A (p.Gly257Arg) | Missense | Rare | Reduced RGS9-1 function; bradyopsia |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., Arg163Trp, Arg189Trp) reduce or abolish GTPase-accelerating activity, leading to bradyopsia.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described; bradyopsia is typically recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Phototransduction cascade (Reactome: R-HSA-218853)
• G alpha (i) signaling events (Reactome: R-HSA-418594)
• Dopamine D2 receptor signaling (Reactome: R-HSA-9615710)
Protein Summary
RGS9 is a 484-amino acid protein (isoform 1) containing an RGS domain and a DEP domain. It acts as a GTPase-activating protein (GAP) for Gα subunits, primarily Gαt in retina and Gαi/o in brain. The retinal variant (RGS9-1) is anchored to photoreceptor membranes via the Gβ5 subunit, enabling rapid turn-off of the phototransduction cascade. The striatal variant (RGS9-2) modulates dopamine and opioid receptor signaling, influencing motor control and reward.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RGS9 Knockout HEK293 Cell Line | EDJ-KQ6361 | Human | 8787 | Details Get a Quote |
| RGS9BP Knockout HEK293 Cell Line | EDJ-KQ15055 | Human | 388531 | Details Get a Quote |
| RGS9 Knockout A-549 Cell Line | EDJ-KQ30322 | Human | 8787 | Details Get a Quote |
| RGS9 Knockout HCT 116 Cell Line | EDJ-KQ30323 | Human | 8787 | Details Get a Quote |
| RGS9 Knockout HeLa Cell Line | EDJ-KQ55004 | Human | 8787 | Details Get a Quote |
| RGS9BP Knockout HeLa Cell Line | EDJ-KQ60028 | Human | 388531 | Details Get a Quote |
| RGS9BP Knockout A-549 Cell Line | EDJ-KQ68489 | Human | 388531 | Details Get a Quote |
| RGS9BP Knockout HCT 116 Cell Line | EDJ-KQ76867 | Human | 388531 | Details Get a Quote |
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