Entrez gene ID | | 2784 |
Official gene symbol | | GNB3 |
Full name | | guanine nucleotide binding protein (G protein), beta polypeptide 3 |
Aliases | | ,-, |
Gene 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. 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. Additional splice variants may exist for this gene, but they have not been fully described. [provided by RefSeq] |
Location | | Chromosome: 12 Locus: 12p13 |
Gene position | | 6949375 - 6956557 Map Viewer |
Gene orientation | | plus |
Gene size | | 7183 bp |
Gene sequence |
| |
|