RGS9BP
Regulator of G Protein Signaling 9 Binding Protein
Gene Information Card
| Symbol | RGS9BP |
|---|---|
| Full Name | Regulator of G Protein Signaling 9 Binding Protein |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.11 |
| NCBI Gene ID | 388531 ncbi.nlm.nih.gov/gene/388531 |
| Ensembl ID | ENSG00000188283 |
| UniProt ID | Q6ZS82 |
| OMIM ID | 607814 |
| HGNC ID | 28485 |
| Aliases | RGS9-2, RGS9BP, RGS9 binding protein |
Description
RGS9BP encodes a protein that binds to and stabilizes the regulator of G protein signaling 9 (RGS9), a key component in the deactivation of G protein-coupled receptor signaling. The protein is essential for normal phototransduction in retinal photoreceptors and modulates signaling in the brain, particularly in the striatum. Mutations in RGS9BP cause bradyopsia, a disorder characterized by delayed light adaptation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bradyopsia | Loss-of-function mutations in RGS9BP impair RGS9 stability, leading to delayed deactivation of transducin and prolonged photoresponse | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 12.5 | High |
| Cerebellum | 6.2 | Medium |
| Cerebral cortex | 4.8 | Medium |
| Testis | 1.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 | 0.0 | Not expressed |
| SH-SY5Y | 0.0 | Not expressed |
| HEK293 | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.556C>T (p.Arg186*) | Nonsense | Rare | Loss of function; associated with bradyopsia |
| c.493G>A (p.Gly165Arg) | Missense | Rare | Likely loss of function; disrupts RGS9 binding |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that reduce RGS9BP protein stability or disrupt RGS9 binding lead to loss of function, causing bradyopsia.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor signaling pathway | • phototransduction |
| • protein binding | • regulation of G protein-coupled receptor signaling pathway |
Pathways
• Phototransduction cascade
• G alpha (i) signaling events
Protein Summary
RGS9BP is a 25 kDa protein that acts as a chaperone for RGS9, anchoring it to the membrane and protecting it from proteasomal degradation. It is highly expressed in retinal photoreceptors and striatal neurons, where it regulates the duration of G protein signaling. The protein contains a DEP domain that mediates membrane localization and a GGL domain that binds RGS9.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RGS9BP Knockout HEK293 Cell Line | EDJ-KQ15055 | Human | 388531 | 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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