RGS22: Regulator of G Protein Signaling 22
A member of the RGS protein family involved in signal transduction and potential roles in cancer and development.
Gene Information Card
| Symbol | RGS22 |
|---|---|
| Full Name | Regulator of G Protein Signaling 22 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q22.2 |
| NCBI Gene ID | 26166 ncbi.nlm.nih.gov/gene/26166 |
| Ensembl ID | ENSG00000182389 |
| UniProt ID | Q8NFW5 |
| OMIM ID | 610429 |
| HGNC ID | 30386 |
| Aliases | DKFZp686A01247, FLJ14431, RGS22L |
Description
RGS22 (Regulator of G Protein Signaling 22) is a protein-coding gene that belongs to the RGS family, which negatively regulates G protein-coupled receptor (GPCR) signaling by acting as GTPase-activating proteins (GAPs) for G alpha subunits. RGS22 is involved in modulating signal transduction pathways, including those mediated by GNAI and GNAQ. It is expressed in various tissues and has been implicated in spermatogenesis, cell migration, and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | RGS22 may modulate GPCR signaling affecting cell proliferation and migration; altered expression observed in tumors. | COSMIC; literature |
| Male infertility | RGS22 is involved in spermatogenesis; knockout models show impaired sperm function. | OMIM; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 3.2 | Low |
| Lung | 1.8 | Low |
| Liver | 0.5 | Not detected |
| Kidney | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 4.5 | Moderate expression |
| HeLa | 2.0 | Low expression |
| A549 | 1.2 | Low expression |
| MCF7 | 0.8 | Not detected |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function |
| c.567G>A (p.Val189Met) | Missense | 0.2% | Unknown effect |
| c.890_891insA | Frameshift | <0.1% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in RGS22 are predicted to cause loss of function, potentially disrupting G protein signaling regulation.
Gain of Function (GOF)
No gain-of-function mutations have been reported for RGS22.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for RGS22.
View complete mutation data:
Gene Ontology (GO)
| • GTPase activator activity | • G protein-coupled receptor signaling pathway |
| • negative regulation of G protein-coupled receptor signaling pathway | • cytoplasm |
| • plasma membrane |
Pathways
• GPCR downstream signaling
• G alpha (i) signaling events
Protein Summary
RGS22 is a 1,198-amino acid protein containing an RGS domain that mediates its GTPase-activating protein (GAP) activity toward G alpha subunits. It is localized to the cytoplasm and plasma membrane, and plays a role in modulating GPCR signaling. RGS22 is highly expressed in testis and is essential for normal sperm function. Altered expression and mutations have been linked to cancer, suggesting a potential tumor suppressor role.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RGS22 Knockout HEK293 Cell Line | EDJ-KQ8443 | Human | 26166 | Details Get a Quote |
| RGS22 Knockout A-549 Cell Line | EDJ-KQ34561 | Human | 26166 | Details Get a Quote |
| RGS22 Knockout HeLa Cell Line | EDJ-KQ55889 | Human | 26166 | Details Get a Quote |
| RGS22 Knockout HCT 116 Cell Line | EDJ-KQ72830 | Human | 26166 | Details Get a Quote |
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