RGS12: Regulator of G Protein Signaling 12
A key modulator of GPCR signaling with roles in cancer and neuronal function
Gene Information Card
| Symbol | RGS12 |
|---|---|
| Full Name | Regulator of G Protein Signaling 12 |
| Gene Type | protein-coding |
| Chromosomal Location | 4p16.3 |
| NCBI Gene ID | 6002 ncbi.nlm.nih.gov/gene/6002 |
| Ensembl ID | ENSG00000169788 |
| UniProt ID | O14924 |
| OMIM ID | 602512 |
| HGNC ID | 9993 |
| Aliases | RGS12, DKFZp686B0320, FLJ37953 |
Description
RGS12 (Regulator of G Protein Signaling 12) encodes a member of the regulator of G protein signaling (RGS) family. This protein contains a PDZ domain, a phosphotyrosine-binding (PTB) domain, and a GoLoco motif, in addition to the RGS domain. It functions as a GTPase-activating protein (GAP) for G alpha subunits, thereby negatively regulating G protein-coupled receptor (GPCR) signaling. RGS12 is involved in cell proliferation, differentiation, and neuronal signaling. Alternative splicing results in multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of GPCR signaling via altered RGS12 expression or mutation | COSMIC; ClinVar |
| Neuropathic pain | Modulation of nociceptive signaling through GPCR pathways | NCBI Gene; PubMed |
| Schizophrenia | Genetic association studies implicate RGS12 in synaptic signaling | OMIM; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Heart | 6.1 | Low |
| Liver | 4.2 | Low |
| Kidney | 7.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | Embryonic kidney cells |
| SH-SY5Y | 22.1 | Neuroblastoma cell line |
| A549 | 9.4 | Lung carcinoma cells |
| MCF7 | 11.3 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | 0.02% (gnomAD) | Potential loss of GAP activity |
| c.567G>A (p.Val189Met) | Missense | 0.01% (gnomAD) | Unknown |
| c.2345_2346insA (p.Leu782fs) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants that truncate the RGS domain or GoLoco motif are predicted to impair GAP activity and GPCR regulation.
Gain of Function (GOF)
Not well characterized; some missense variants may alter substrate specificity.
Dominant Negative (DN)
Mutations in the PDZ domain may interfere with protein-protein interactions, potentially acting in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
Pathways
• GPCR downstream signaling (Reactome: R-HSA-388396)
• RGS regulation of G alpha (Reactome: R-HSA-8851805)
• Signaling by GPCR (KEGG: hsa04020)
Protein Summary
RGS12 is a multi-domain protein (PDZ, PTB, RGS, GoLoco) that acts as a negative regulator of G protein signaling. It accelerates GTP hydrolysis on Gα subunits, thereby terminating GPCR-mediated signals. The protein is expressed in brain, lung, and other tissues, and is implicated in cancer, neuropathic pain, and psychiatric disorders. Mutations affecting the RGS domain can disrupt its GAP function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RGS12 Knockout HEK293 Cell Line | EDJ-KQ5663 | Human | 6002 | Details Get a Quote |
| RGS12 Knockout A-549 Cell Line | EDJ-KQ29013 | Human | 6002 | Details Get a Quote |
| RGS12 Knockout HCT 116 Cell Line | EDJ-KQ29014 | Human | 6002 | Details Get a Quote |
| RGS12 Knockout HeLa Cell Line | EDJ-KQ29015 | Human | 6002 | Details Get a Quote |
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