Summary of GNB3
This gene encodes a beta subunit that belongs to the WD repeat G protein beta family. Beta subunits regulate alpha subunits, signal transduction receptors, and effectors. Polymorphisms of this gene are associated with obesity and high blood pressure (R).
The Function of GNB3
Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction.
Protein names
Recommended name:
Guanine nucleotide-binding protein GShort name:
IAlternative name(s):
ST
Transducin beta chain 3
- RS1129649 (GNB3) ??
- RS2301339 (GNB3) ??
- RS4963516 (GNB3) ??
- RS5442 (GNB3) ??
- RS5446 (GNB3) ??
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Top Gene-Substance Interactions
GNB3 Interacts with These Diseases
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Substances That Increase GNB3
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Substances That Decrease GNB3
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Advanced Summary
From NCBI Gene: Essential hypertensionNIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1H
From NCBI Gene: 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] From UniProt: Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction.
Conditions with Increased Gene Activity
Condition | Change (log2fold) | Comparison | Species | Experimental variables | Experiment name |
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Conditions with Decreased Gene Activity
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Technical
The following transcription factors affect gene expression:
Gene Pathways:
Molecular Function:
Biological Processes:
- Cellular Response To Glucagon Stimulus
- G-Protein Coupled Receptor Signaling Pathway
- Protein Folding
- Regulation Of Blood Pressure