GNB3
Sign in to saveAlso 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.
In the Vinony graph
Within Vinony's link graph, GNB3 is referenced by 90 other articles, and connects out to PubMed, human chromosome 12 and Ensembl genome database project.
It is catalogued under the topic Genes on human chromosome 12.
Its subject is documented across 5 Wikipedia language editions.
Gene data
GNB3- Name
- G protein subunit beta 3
- Type
- protein-coding
- Position
- 6,839,954–6,847,393 (+)
- Aliases
- CSNB1H, HG2D
- Ensembl
- ENSG00000111664
- RefSeq RNA
- NM_001297571.2, NM_002075.4, XM_011520953.4, XM_047428702.1, XM_047428703.1
- RefSeq protein
- NP_001284500.1, NP_002066.1, XP_011519255.1, XP_047284658.1, XP_047284659.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
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
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 7 more facts
- HomoloGene ID
- 55628
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/2784
- chromosome
- human chromosome 12
- genomic start
- 6949118
- genomic end
- 6956557
- cytogenetic location
- 12p13.31
Sources (3)
via Wikidata · CC0
~1 min read
Encyclopedic overview
2 sectionsContents
- References
- Further reading
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.
Excerpted from Wikipedia’s “GNB3” article, available under the CC BY-SA 4.0 licence.