GNB2

Chr 7

G protein subunit beta 2

Also known as: HG2C1, NEDHYDF, SSS4, SSS4; NEDHYDF

NCBI Gene: 2783 ENSG00000172354 UniProt: P62879

The GNB2 protein functions as the beta subunit of heterotrimeric G proteins, regulating alpha subunit activity and mediating signal transduction between cell surface receptors and intracellular effector proteins. Mutations cause autosomal dominant neurodevelopmental disorder with hypotonia and dysmorphic facies, and potentially sick sinus syndrome, affecting both the nervous system and cardiac conduction. The gene is highly constrained against loss-of-function variants (pLI = 0.99), indicating that such mutations are likely to have severe consequences.

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. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. This gene contains a trinucleotide (CCG) repeat length polymorphism in its 5' UTR. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNeurodevelopmental disorder with hypotonia and dysmorphic facies

UniProtSick sinus syndrome 4

Clinical highlights

Gene-disease validity (ClinGen)

complex neurodevelopmental disorder · ADModerateconsider for supplementary testing

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.27

LOEUF· LoF intol.

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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