GNB3

SNP Table

variant	genotype	frequency	risk allele
rs5442
rs5443
rs3759349
rs3759352
rs1129649
rs201467320
rs201963490
rs202103093
rs61747607
rs782527175
rs782597916
rs782769083
rs1047771
rs1047776
rs10744716
rs10849527
rs1129646
rs370369534
rs3759347
rs3759348

22315 associated SNPs in total

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Summary Blog Articles GHR Function Frequently Asked Questions

Summary

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).

Protein names

G protein subunit beta 3 [Source:HGNC Symbol;Acc:HGNC:4400]

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The GNB3 gene encodes a protein involved in the gut-brain axis and an overactive variant may worsen GERD symptoms. Learn where y

GHR Function

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.

More Information

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.

Frequently Asked Questions

Why Are Alleles for This SNP Different Elsewhere? Major vs. Reference Allele Is My Variant Good or Bad? SNP vs. Mutation

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