GNB3
Summary: Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit which belongs to the WD repeat G protein beta family. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. A single-nucleotide polymorphism (C825T) in this gene is associated with essential hypertension and obesity. This polymorphism is also associated with the occurrence of the splice variant GNB3-s, which appears to have increased activity. GNB3-s is an example of alternative splicing caused by a nucleotide change outside of the splice donor and acceptor sites. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2014].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:139130 Ensembl IDEnsembl:ENSG00000111664 HGNC IDHGNC:HGNC:4400 PHARMGKB IDPA176 Map Location12p13.31 | |||||
GO terms in GNB3
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | TAS | GO:0003924 | GTPase activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0030507 | spectrin binding |
| MF | IPI | GO:0051020 | GTPase binding |
| BP | TAS | GO:0006457 | protein folding |
| BP | IGI | GO:0006884 | cell volume homeostasis |
Gene expression in normal tissue: GNB3
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in GNB3
Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP2355 | Corticotropin-releasing hormone signaling pathway |
| wikipathways | WP289 | Myometrial Relaxation and Contraction Pathways |
| wikipathways | WP35 | G Protein Signaling Pathways |
| wikipathways | WP3929 | Chemokine signaling pathway |
| wikipathways | WP3932 | Focal Adhesion-PI3K-Akt-mTOR-signaling pathway |
| wikipathways | WP4172 | PI3K-Akt Signaling Pathway |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD353 | PD0325901 | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in GNB3
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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