GNB5

Chr 15q21.2

G protein subunit beta 5

Aliases:: GB5
MANE:: ENST00000261837.12

OMIM: 604447 ↗NCBI: 10681 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

GNB5 · O14775

v62025-08-01

Predicted Aligned Error matrix for GNB5 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

94.0/ 100

Very high

395 residues

Confidence breakdown

Very high(≥ 90)83%
Confident(70–90)14%
Low(50–70)2%
Very low(< 50)2%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Cardiac arrhythmias - additional genes
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

gnb5-related intellectual disability-cardiac arrhythmia syndrome
0.76
language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia
0.68
hereditary disease
0.50
Global developmental delay
0.33
Abnormality of the cardiovascular system
0.30
Abnormality of the nervous system
0.27
attention deficit-hyperactivity disorder
0.26
Delayed speech and language development
0.26
neurodegenerative disease
0.26
Fraser syndrome
0.11

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Guanine nucleotide-binding protein subunit beta-5

Enhances GTPase-activating protein (GAP) activity of regulator of G protein signaling (RGS) proteins, such as RGS7 and RGS9, hence involved in the termination of the signaling initiated by the G protein-coupled receptors (GPCRs) by accelerating the GTP hydrolysis on the G-alpha subunits, thereby promoting their inactivation (PubMed:27677260). Increases RGS7 GTPase-activating protein (GAP) activity, thereby regulating mood and cognition (By similarity). Increases RGS9 GTPase-activating protein (GAP) activity, hence contributes to the deactivation of G protein signaling initiated by D(2) dopamine receptors (PubMed:27677260). May play an important role in neuronal signaling, including in the parasympathetic, but not sympathetic, control of heart rate (By similarity)