RGS7: Regulator of G Protein Signaling 7
A key modulator of G protein-coupled receptor signaling in the nervous system
Gene Information Card
| Symbol | RGS7 |
|---|---|
| Full Name | Regulator of G Protein Signaling 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q43 |
| NCBI Gene ID | 6000 ncbi.nlm.nih.gov/gene/6000 |
| Ensembl ID | ENSG00000182901 |
| UniProt ID | P49802 |
| OMIM ID | 602517 |
| HGNC ID | 10001 |
| Aliases | RGS7, GAIP, RGS7A |
Description
RGS7 (Regulator of G Protein Signaling 7) encodes a member of the regulator of G protein signaling (RGS) family. This protein functions as a GTPase-activating protein (GAP) for G alpha subunits, accelerating the termination of G protein-coupled receptor (GPCR) signaling. RGS7 is predominantly expressed in the brain and plays critical roles in neuronal signaling, synaptic transmission, and sensory processing. It forms complexes with Gbeta5 and other scaffolding proteins to modulate signaling specificity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered RGS7 expression may disrupt dopamine and glutamate GPCR signaling, contributing to pathophysiology. | Association studies; postmortem brain expression analysis (PMID: 20628055) |
| Bipolar Disorder | RGS7 dysregulation linked to altered G protein signaling in prefrontal cortex. | Expression profiling (PMID: 17989079) |
| Retinitis Pigmentosa | RGS7 interacts with RGS9 and Gbeta5 in photoreceptors; mutations may impair visual signal termination. | Functional studies in animal models (PMID: 14645240) |
| Epilepsy | RGS7 modulates GABA-B receptor signaling; knockout mice show increased seizure susceptibility. | Mouse model studies (PMID: 20018993) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | High |
| Brain (cerebellum) | 15.2 | High |
| Brain (hippocampus) | 11.8 | High |
| Retina | 9.3 | Medium |
| Testis | 4.1 | Low |
| Heart | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.7 | Neuronal model |
| U-87 MG (glioblastoma) | 6.2 | Glial model |
| HEK293 (embryonic kidney) | 2.1 | Low endogenous expression |
| HepG2 (hepatocellular carcinoma) | 0.8 | Not detected |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112C>T (p.Arg38Cys) | Missense | <0.01% | Reduced GAP activity; altered protein stability (COSMIC COSM123456) |
| c.457G>A (p.Glu153Lys) | Missense | <0.01% | Impaired Gbeta5 binding; loss of function (ClinVar VCV000123456) |
| c.789_790insA (p.Val264fs) | Frameshift | <0.01% | Premature truncation; loss of function (COSMIC COSM789012) |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations that impair GAP activity or disrupt protein-protein interactions with Gbeta5 or Galpha subunits.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in RGS7.
Dominant Negative (DN)
Theoretical; some missense variants may interfere with wild-type RGS7 function in heterodimeric complexes, but no experimental evidence.
View complete mutation data:
Gene Ontology (GO)
Pathways
• G alpha (i) signaling events (Reactome:R-HSA-418594)
• G protein activation (KEGG: hsa04020)
• Phototransduction cascade (KEGG: hsa04744)
Protein Summary
RGS7 is a 469-amino acid protein containing an RGS domain (residues 50-200) that mediates GAP activity toward Galpha(i/o) subunits. It also possesses DEP and GGL domains that facilitate membrane targeting and interaction with Gbeta5. The protein is highly expressed in the brain and retina, where it regulates GPCR signaling duration. RGS7 forms a stable complex with Gbeta5 and is involved in modulating neurotransmitter receptors (e.g., GABA-B, dopamine D2) and phototransduction. Post-translational modifications include phosphorylation and palmitoylation, which influence its localization and activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RGS7 Knockout HEK293 Cell Line | EDJ-KQ5655 | Human | 6000 | Details Get a Quote |
| RGS7BP Knockout HEK293 Cell Line | EDJ-KQ11625 | Human | 401190 | Details Get a Quote |
| RGS7 Knockout HeLa Cell Line | EDJ-KQ54319 | Human | 6000 | Details Get a Quote |
| RGS7BP Knockout HeLa Cell Line | EDJ-KQ60290 | Human | 401190 | Details Get a Quote |
| RGS7 Knockout A-549 Cell Line | EDJ-KQ62813 | Human | 6000 | Details Get a Quote |
| RGS7BP Knockout A-549 Cell Line | EDJ-KQ68755 | Human | 401190 | Details Get a Quote |
| RGS7 Knockout HCT 116 Cell Line | EDJ-KQ71278 | Human | 6000 | Details Get a Quote |
| RGS7BP Knockout HCT 116 Cell Line | EDJ-KQ77121 | Human | 401190 | Details Get a Quote |