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.

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 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
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