GNG2 (G Protein Subunit Gamma 2)
A key component of heterotrimeric G proteins involved in signal transduction, with implications in cancer and neurological disorders.
Gene Information Card
| Symbol | GNG2 |
|---|---|
| Full Name | G protein subunit gamma 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q21.3 |
| NCBI Gene ID | 54331 ncbi.nlm.nih.gov/gene/54331 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | P59768 |
| OMIM ID | 606981 |
| HGNC ID | 4400 |
| Aliases | GNG2, G protein gamma 2 subunit |
Description
GNG2 encodes the gamma-2 subunit of heterotrimeric G proteins, which are critical mediators of signal transduction from G protein-coupled receptors (GPCRs) to intracellular effectors. The gamma subunit, together with beta subunits, forms the beta-gamma complex that modulates various downstream signaling pathways, including ion channels, adenylyl cyclases, and phospholipases. GNG2 is widely expressed and has been implicated in cancer progression, neurological function, and sensory perception.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered GNG2 expression may disrupt GPCR signaling, affecting cell proliferation and migration. | COSMIC database reports somatic mutations in multiple cancer types. |
| Retinitis pigmentosa | Mutations in GNG2 can impair phototransduction in retinal rod cells. | OMIM #606981; associated with autosomal recessive retinitis pigmentosa. |
| Neurological disorders | Dysregulation of GNG2 may affect neuronal signaling and synaptic transmission. | ClinVar lists variants with uncertain significance in neurodevelopmental conditions. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
| Retina | 20.1 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.4 | Moderate expression |
| HeLa | 7.8 | Low expression |
| SH-SY5Y | 14.2 | Medium expression |
| MCF7 | 6.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% | Likely loss of function; reported in COSMIC |
| c.200C>T (p.Pro67Leu) | Missense | <0.1% | Uncertain significance; ClinVar |
| c.334G>A (p.Gly112Arg) | Missense | <0.1% | Reported in retinitis pigmentosa; OMIM |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt protein folding or GTP-binding may impair G protein signaling.
Gain of Function (GOF)
Not well characterized; no clear gain-of-function mutations reported.
Dominant Negative (DN)
Rare; some missense variants may interfere with beta-gamma complex formation.
View complete mutation data：
Gene Ontology (GO)
Pathways
• GPCR downstream signaling (Reactome: R-HSA-388396)
• Phototransduction cascade (KEGG: hsa04744)
• cAMP signaling pathway (KEGG: hsa04024)
Protein Summary
The GNG2 protein (UniProt P59768) is a 71-amino acid gamma subunit of heterotrimeric G proteins. It forms a stable dimer with G beta subunits and is essential for modulating GPCR signaling. The protein is membrane-associated via prenylation at its C-terminus. Structural studies show it adopts an alpha-helical fold that interacts with G alpha and effector molecules. Mutations in GNG2 can disrupt phototransduction and are linked to retinitis pigmentosa.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GNG2 Knockout HEK293 Cell Line | EDJ-KQ1211 | Human | 54331 | Details Get a Quote |
| GNG2 Knockout A-549 Cell Line | EDJ-KQ20533 | Human | 54331 | Details Get a Quote |
| GNG2 Knockout HeLa Cell Line | EDJ-KQ20534 | Human | 54331 | Details Get a Quote |
| GNG2 Knockout HCT 116 Cell Line | EDJ-KQ73343 | Human | 54331 | Details Get a Quote |
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