GNA11 Gene - G Protein Subunit Alpha 11
Comprehensive genomic and functional analysis of GNA11, a key oncogene in uveal melanoma and other cancers.
Gene Information Card
| Symbol | GNA11 |
|---|---|
| Full Name | G protein subunit alpha 11 |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 2767 ncbi.nlm.nih.gov/gene/2767 |
| Ensembl ID | ENSG00000088256 |
| UniProt ID | P29992 |
| OMIM ID | 139313 |
| HGNC ID | 4379 |
| Aliases | GA11, GNA-11, GNA11_HUMAN |
Description
GNA11 encodes the alpha subunit of the heterotrimeric G protein Gq class. This protein mediates signaling between G protein-coupled receptors (GPCRs) and downstream effectors such as phospholipase C beta. Activating mutations in GNA11 are oncogenic drivers in uveal melanoma and are also associated with Sturge-Weber syndrome and other vascular malformations.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Uveal melanoma | Activating mutations (e.g., Q209L, R183C) in GNA11 lead to constitutive activation of the Gq signaling pathway, promoting cell proliferation and tumorigenesis. | Multiple studies in COSMIC and ClinVar; recurrent somatic mutations found in ~50% of uveal melanomas. |
| Sturge-Weber syndrome | Somatic activating mutations in GNA11 (e.g., R183C) cause abnormal vascular development, leading to port-wine stains and leptomeningeal angiomatosis. | Reported in ClinVar and literature (Shirley et al., 2013). |
| Leiomyosarcoma | Recurrent GNA11 mutations identified in a subset of leiomyosarcomas, suggesting oncogenic role. | COSMIC database and targeted sequencing studies. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Heart | 12.8 | Medium |
| Liver | 8.5 | Low |
| Lung | 14.1 | Medium |
| Kidney | 11.3 | Medium |
| Testis | 20.6 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.4 | High expression; commonly used for functional studies. |
| HeLa | 12.1 | Moderate expression. |
| A375 (melanoma) | 22.7 | High expression; relevant for uveal melanoma models. |
| MCF7 | 9.8 | Low expression. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Q209L | Missense | ~40% in uveal melanoma | Gain-of-function; constitutive activation of Gq signaling. |
| R183C | Missense | ~5% in uveal melanoma; also in Sturge-Weber syndrome | Gain-of-function; reduced GTPase activity. |
| Q209P | Missense | <1% | Gain-of-function; similar to Q209L. |
| R183H | Missense | <1% | Gain-of-function; analogous to R183C. |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported in human disease; GNA11 is essential for normal GPCR signaling.
Gain of Function (GOF)
Hotspot mutations at Q209 and R183 (e.g., Q209L, R183C) result in constitutive activation of the Gq pathway, driving oncogenesis.
Dominant Negative (DN)
Not described for GNA11; all known pathogenic mutations are gain-of-function.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activity (GO:0003924) | • signal transducer activity (GO:0004871) |
| • G protein-coupled receptor signaling pathway (GO:0007186) | • GTP binding (GO:0005525) |
| • G protein beta/gamma-subunit complex binding (GO:0031683) | • positive regulation of GTPase activity (GO:0043547) |
Pathways
• GPCR downstream signaling (Reactome: R-HSA-388396)
• G alpha (q) signalling events (Reactome: R-HSA-416476)
• Signaling by GPCR (Reactome: R-HSA-372790)
• Phospholipase C-mediated cascade (KEGG: hsa04020)
Protein Summary
GNA11 is a 359-amino acid protein (UniProt P29992) belonging to the Gq family of G protein alpha subunits. It functions as a molecular switch: when bound to GTP, it activates phospholipase C beta, leading to calcium mobilization and PKC activation. The protein is ubiquitously expressed with highest levels in testis and brain. Activating mutations at residues Q209 and R183 impair GTP hydrolysis, locking the protein in its active state and driving oncogenic signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GNA11 Knockout HEK293 Cell Line | EDJ-KQ1609 | Human | 2767 | Details Get a Quote |
| GNA11 Knockout A-549 Cell Line | EDJ-KQ21291 | Human | 2767 | Details Get a Quote |
| GNA11 Knockout HCT 116 Cell Line | EDJ-KQ21292 | Human | 2767 | Details Get a Quote |
| GNA11 Knockout HeLa Cell Line | EDJ-KQ21293 | Human | 2767 | Details Get a Quote |
| GNA11 (p.T257=) Point Mutation in HAP1 Cell Line | EDC03504 | Human | 2767 | Details Get a Quote |
| GNA11 (c.477-78C>T )Point Mutation in HAP1 Cell Line | EDC03503 | Human | 2767 | Details Get a Quote |
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