GNAO1

Chr 16q13

G protein subunit alpha o1

Aliases:: G-ALPHA-o
MANE:: ENST00000262493.12

OMIM: 139311 ↗NCBI: 2775 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

GNAO1 · P09471

v62025-08-01

Predicted Aligned Error matrix for GNAO1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

94.5/ 100

Very high

354 residues

Confidence breakdown

Very high(≥ 90)87%
Confident(70–90)11%
Low(50–70)1%
Very low(< 50)1%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Childhood onset dystonia, chorea or related movement disorder
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset dystonia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset dystonia, chorea or related movement disorder
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

developmental and epileptic encephalopathy, 17
0.80
neurodevelopmental disorder with involuntary movements
0.79
Epileptic encephalopathy
0.66
genetic developmental and epileptic encephalopathy
0.65
early-infantile DEE
0.65
hereditary disease
0.54
movement disorder
0.46
GNAO1-related developmental delay-seizures-movement disorder spectrum
0.45
developmental and epileptic encephalopathy
0.44
Abnormality of the nervous system
0.43

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

Protein function (UniProt)

Guanine nucleotide-binding protein G(o) subunit alpha

Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades (PubMed:29925951, PubMed:33408414, PubMed:39103320). The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state (PubMed:39103320). Signaling by an activated GPCR promotes GDP release and GTP binding (PubMed:39103320). The alpha subunit has a low GTPase activity that converts bound GTP to GDP, thereby terminating the signal (By similarity). Both GDP release and GTP hydrolysis are modulated by numerous regulatory proteins (By similarity). Signaling is mediated via effector proteins, such as adenylate cyclase (By similarity). Inhibits adenylate cyclase activity, leading to decreased intracellular cAMP levels (By similarity)