GNB3

Chr 12MultiAR

G protein subunit beta 3

Also known as: CSNB1H, HG2D

NCBI Gene: 2784 ENSG00000111664 UniProt: P16520 OMIM: 139130

The protein is a beta subunit of heterotrimeric G proteins that modulates transmembrane signaling by regulating GTPase activity and interactions between G protein alpha subunits and their effectors. Mutations cause autosomal recessive congenital stationary night blindness type 1H, and the gene shows susceptibility associations with essential hypertension through multifactorial inheritance. This gene is not highly constrained against loss-of-function variants and primarily affects visual and cardiovascular systems.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

{Hypertension, essential, susceptibility to}MIM #145500

Multi

Night blindness, congenital stationary, type 1HMIM #617024

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.38

LOEUF

LOF

Mechanism· G2P