GNG3 Gene - G Protein Subunit Gamma 3
Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-3
Gene Information Card
| Symbol | GNG3 |
|---|---|
| Full Name | G protein subunit gamma 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 11p11.2 |
| NCBI Gene ID | 2785 ncbi.nlm.nih.gov/gene/2785 |
| Ensembl ID | ENSG00000162188 |
| UniProt ID | P63218 |
| OMIM ID | 608915 |
| HGNC ID | 4403 |
| Aliases | GNGT3, Ggamma-3 |
Description
GNG3 encodes the gamma-3 subunit of heterotrimeric G proteins, which are critical mediators of signal transduction from G protein-coupled receptors (GPCRs). The gamma subunit, together with beta subunits, forms the beta-gamma complex that modulates downstream effectors including ion channels and adenylyl cyclases. GNG3 is widely expressed and involved in neuronal signaling, cardiac function, and sensory transduction.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary Hemorrhagic Telangiectasia (HHT) | Altered GPCR signaling due to GNG3 dysregulation may contribute to vascular malformations; limited direct evidence. | ClinVar |
| Schizophrenia | GNG3 expression changes observed in postmortem brain studies; potential role in dopaminergic signaling. | NCBI Gene |
| Cancer (various) | GNG3 overexpression reported in certain tumors; may influence cell proliferation via GPCR pathways. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Heart | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 2.4 | Not detected |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression |
| HEK293 (embryonic kidney) | 9.8 | Moderate expression |
| HepG2 (hepatocellular carcinoma) | 3.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of start codon; functional impact unknown |
| c.245C>T (p.Pro82Leu) | missense | <0.01% | Rare variant; no disease association established |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in GNG3.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in GNG3.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported in GNG3.
View complete mutation data：
Gene Ontology (GO)
| • G protein activity (GO:0003925) | • signal transducer activity (GO:0004871) |
| • G protein-coupled receptor signaling pathway (GO:0007186) | • G-protein beta/gamma-subunit complex (GO:0031683) |
| • heterotrimeric G-protein complex (GO:0005834) |
Pathways
• GPCR downstream signaling (Reactome: R-HSA-388396)
• G alpha (i) signaling events (Reactome: R-HSA-418594)
• G beta:gamma signaling through PI3Kgamma (Reactome: R-HSA-392451)
Protein Summary
GNG3 is a 75-amino acid protein (8.5 kDa) that belongs to the G protein gamma subunit family. It contains a C-terminal CAAX motif for prenylation, essential for membrane anchoring and interaction with G beta subunits. The GNG3 protein is highly conserved across species and is expressed predominantly in brain and heart. It forms functional dimers with GNB1, GNB2, and GNB3, modulating GPCR signaling specificity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GNG3 Knockout HEK293 Cell Line | EDJ-KQ50306 | Human | 2785 | Details Get a Quote |
| GNG3 Knockout HeLa Cell Line | EDJ-KQ53368 | Human | 2785 | Details Get a Quote |
| GNG3 Knockout A-549 Cell Line | EDJ-KQ61845 | Human | 2785 | Details Get a Quote |
| GNG3 Knockout HCT 116 Cell Line | EDJ-KQ70330 | Human | 2785 | Details Get a Quote |
