GNB3

Also known as CSNB1H, G protein subunit beta 3, HG2D

Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3 is a protein that in humans is encoded by the GNB3 gene.

Gene data

GNB3

Name: G protein subunit beta 3
Type: protein-coding
Aliases: CSNB1H, HG2D

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].

via MyGene.info

Gene · Ensembl

G protein subunit beta 3

Symbol: GNB3
Biotype: Protein coding
Organism: Homo sapiens
Location: 12:6,839,954-6,847,393
Strand: Forward (+)
Assembly: GRCh38

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via Ensembl · EMBL-EBI

Wikidata facts

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HomoloGene ID: 55628
exact match: identifiers.org/ncbigene/2784
genomic start: 6949118
genomic end: 6956557
cytogenetic location: 12p13.31

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Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3 is a protein that in humans is encoded by the GNB3 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. 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.