RGS18: Regulator of G Protein Signaling 18
A key modulator of platelet function and hematopoietic signaling
Gene Information Card
| Symbol | RGS18 |
|---|---|
| Full Name | Regulator of G Protein Signaling 18 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q31.2 |
| NCBI Gene ID | 64407 ncbi.nlm.nih.gov/gene/64407 |
| Ensembl ID | ENSG00000150681 |
| UniProt ID | Q9NS28 |
| OMIM ID | 607189 |
| HGNC ID | 14623 |
| Aliases | RGS13, RGS20, FLJ22955 |
Description
RGS18 (Regulator of G Protein Signaling 18) is a member of the RGS protein family that accelerates the GTPase activity of G protein alpha subunits, thereby negatively regulating G protein-coupled receptor (GPCR) signaling. It is predominantly expressed in hematopoietic tissues, particularly in platelets and megakaryocytes, where it modulates platelet activation and aggregation. RGS18 also plays roles in immune cell signaling and has been implicated in thrombotic and inflammatory disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Thrombocytopenia | RGS18 loss-of-function may impair platelet production or activation, leading to low platelet counts. | ClinVar, OMIM |
| Bleeding disorders | Dysregulation of RGS18-mediated GPCR signaling can alter platelet aggregation and hemostasis. | NCBI Gene, PubMed |
| Myeloproliferative neoplasms | Altered RGS18 expression may contribute to abnormal megakaryocyte proliferation. | COSMIC, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Spleen | 8.3 | Low |
| Whole blood | 6.7 | Low |
| Lung | 2.1 | Not detected |
| Liver | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 0.2 | Low expression; used for recombinant studies |
| K562 | 4.8 | Moderate; erythroleukemia cell line |
| MEG-01 | 9.1 | High; megakaryocytic lineage |
| THP-1 | 3.5 | Monocytic; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.553C>T (p.Arg185Trp) | Missense | <0.01% | Unknown; predicted damaging by SIFT |
| c.412G>A (p.Glu138Lys) | Missense | <0.01% | Unknown; may affect GAP activity |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Start loss mutations (e.g., p.Met1Val) and missense variants that disrupt the RGS domain are predicted to impair GTPase-accelerating activity, leading to prolonged GPCR signaling.
Gain of Function (GOF)
No gain-of-function mutations have been reported in RGS18.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for RGS18.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activator activity | • G protein-coupled receptor signaling pathway |
| • negative regulation of signal transduction | • regulation of platelet activation |
| • intracellular signal transduction |
Pathways
• GPCR downstream signaling
• Platelet activation
• signaling and aggregation
• G alpha (i) signaling events
Protein Summary
RGS18 is a 235-amino acid protein containing a conserved RGS domain that interacts with Gα subunits (particularly Gαi and Gαq) to accelerate GTP hydrolysis, thereby terminating GPCR signaling. It is highly expressed in platelets and megakaryocytes, where it regulates thrombus formation. RGS18 also modulates chemokine receptor signaling in immune cells. Structural studies show that its N-terminal region is important for membrane localization and receptor selectivity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RGS18 Knockout HEK293 Cell Line | EDJ-KQ15056 | Human | 64407 | Details Get a Quote |
| RGS18 Knockout HeLa Cell Line | EDJ-KQ57054 | Human | 64407 | Details Get a Quote |
| RGS18 Knockout A-549 Cell Line | EDJ-KQ65567 | Human | 64407 | Details Get a Quote |
| RGS18 Knockout HCT 116 Cell Line | EDJ-KQ73996 | Human | 64407 | Details Get a Quote |
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