GNB3
Identifiers
AliasesGNB3, CSNB1H, G protein subunit beta 3, HG2D
External IDsOMIM: 139130 MGI: 95785 HomoloGene: 55628 GeneCards: GNB3
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001297571
NM_002075

NM_013530

RefSeq (protein)

NP_001284500
NP_002066

NP_038558

Location (UCSC)Chr 12: 6.84 – 6.85 MbChr 6: 124.81 – 124.82 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[5][6]

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.[7]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000111664 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000023439 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Siffert W (Dec 2001). "Molecular genetics of G proteins and atherosclerosis risk". Basic Res Cardiol. 96 (6): 606–11. doi:10.1007/s003950170012. PMID 11770079. S2CID 21235423.
  6. ^ Weinstein LS, Chen M, Xie T, Liu J (May 2006). "Genetic diseases associated with heterotrimeric G proteins". Trends Pharmacol Sci. 27 (5): 260–6. doi:10.1016/j.tips.2006.03.005. PMID 16600389.
  7. ^ "Entrez Gene: GNB3 guanine nucleotide binding protein (G protein), beta polypeptide 3".

Further reading