GNB2 Gene - G Protein Subunit Beta 2
A key component of heterotrimeric G-protein complexes involved in signal transduction.
Gene Information Card
| Symbol | GNB2 |
|---|---|
| Full Name | G Protein Subunit Beta 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 2783 ncbi.nlm.nih.gov/gene/2783 |
| Ensembl ID | ENSG00000172366 |
| UniProt ID | P62879 |
| OMIM ID | 139310 |
| HGNC ID | 4398 |
| Aliases | MGC28214, Gbeta2 |
Description
The GNB2 gene encodes the beta-2 subunit of heterotrimeric guanine nucleotide-binding proteins (G proteins). G protein beta subunits are essential components of G protein-coupled receptor (GPCR) signaling cascades. The beta-2 subunit forms a dimer with gamma subunits and modulates the activity of alpha subunits, influencing downstream effectors such as adenylyl cyclase and ion channels. GNB2 is widely expressed and plays roles in cell proliferation, differentiation, and migration.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypertension | Altered GPCR signaling due to GNB2 variants may affect vascular tone regulation. | ClinVar, PMID: 12023368 |
| Schizophrenia | Genetic association studies link GNB2 polymorphisms to altered dopamine signaling. | NCBI Gene, PMID: 15542400 |
| Cancer (various) | Somatic mutations in GNB2 can lead to constitutive activation of downstream pathways. | COSMIC, PMID: 26619011 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 28.5 | High |
| Heart | 22.3 | High |
| Liver | 18.7 | Medium |
| Kidney | 20.1 | Medium |
| Lung | 15.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 32.1 | High expression in embryonic kidney cells |
| HeLa | 25.8 | Moderate expression in cervical cancer cells |
| K562 | 19.4 | Moderate expression in leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.118G>A (p.Gly40Arg) | Missense | 0.01% | Altered beta-gamma dimer stability (COSMIC) |
| c.227C>T (p.Thr76Met) | Missense | 0.005% | Potential gain-of-function in GPCR signaling (ClinVar) |
| c.344A>G (p.Asn115Ser) | Missense | 0.002% | Unknown functional impact (COSMIC) |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported in GNB2.
Gain of Function (GOF)
Some missense mutations (e.g., p.Thr76Met) are suspected to enhance signaling.
Dominant Negative (DN)
No dominant-negative mutations currently documented.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor signaling pathway | • signal transduction |
| • GTPase activity | • protein heterodimerization activity |
| • cell surface receptor signaling pathway |
Pathways
• GPCR downstream signaling
• cAMP signaling pathway
• Phospholipase C activating pathway
• Chemokine signaling pathway
Protein Summary
The GNB2 protein (UniProt P62879) is a 340-amino-acid beta subunit of heterotrimeric G proteins. It contains WD40 repeats that form a beta-propeller structure, mediating interactions with G alpha and G gamma subunits. GNB2 is involved in modulating signal transduction from GPCRs to intracellular effectors. It is ubiquitously expressed and implicated in various cellular processes including cell growth, differentiation, and neurotransmission.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GNB2 Knockout HEK293 Cell Line | EDJ-KQ799 | Human | 2783 | Details Get a Quote |
| GNB2 Knockout HeLa Cell Line | EDJ-KQ18353 | Human | 2783 | Details Get a Quote |
| GNB2 Knockout A-549 Cell Line | EDJ-KQ19525 | Human | 2783 | Details Get a Quote |
| GNB2 Knockout HCT 116 Cell Line | EDJ-KQ19526 | Human | 2783 | Details Get a Quote |
| GNB1 and GNB2 Knockout HEK293 Cell Line | EDC08277 | Human | 2782 and 2783 | Details Get a Quote |
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