GNAQ

Chr 9q21.2

G protein subunit alpha q

Aliases:: G-ALPHA-q, GAQ
MANE:: ENST00000286548.9

OMIM: 600998 ↗NCBI: 2776 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

GNAQ · P50148

v62025-08-01

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

Mean pLDDT

93.0/ 100

Very high

359 residues

Confidence breakdown

Very high(≥ 90)84%
Confident(70–90)12%
Low(50–70)3%
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)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mosaic skin disorders - deep sequencing
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
COVID-19 research
Unknown
Cerebral vascular malformations
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pigmentary skin disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vascular skin disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

Sturge-Weber syndrome
0.69
familial multiple nevi flammei
0.63
congenital hemangioma
0.50
uveal melanoma
0.47
Abnormality of the skeletal system
0.44
capillary malformation
0.43
hepatocellular carcinoma
0.42
cutaneous melanoma
0.38
phakomatosis pigmentovascularis
0.37
blue nevus
0.37

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

Protein function (UniProt)

Guanine nucleotide-binding protein G(q) subunit alpha

Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades (PubMed:34556863, PubMed:35672283, PubMed:37991948). The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state (PubMed:37991948). Signaling by an activated GPCR promotes GDP release and GTP binding (PubMed:37991948). The alpha subunit has a low GTPase activity that converts bound GTP to GDP, thereby terminating the signal (PubMed:37991948). Both GDP release and GTP hydrolysis are modulated by numerous regulatory proteins (PubMed:37991948). Signaling is mediated via phospholipase C-beta-dependent inositol lipid hydrolysis for signal propagation: activates phospholipase C-beta: following GPCR activation, GNAQ activates PLC-beta (PLCB1, PLCB2, PLCB3 or PLCB4), leading to production of diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) (PubMed:37991948). Required for platelet activation (By similarity). Regulates B-cell selection and survival and is required to prevent B-cell-dependent autoimmunity (By similarity). Regulates chemotaxis of BM-derived neutrophils and dendritic cells (in vitro) (By similarity). Transduces FFAR4 signaling in response to long-chain fatty acids (LCFAs) (PubMed:27852822). Together with GNA11, required for heart development (By similarity)