GNA11

Chr 19p13.3

G protein subunit alpha 11

Aliases:: FBH, FBH2, FHH2
MANE:: ENST00000078429.9

OMIM: 139313 ↗NCBI: 2767 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

GNA11 · P29992

v62025-08-01

Predicted Aligned Error matrix for GNA11 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

92.9/ 100

Very high

359 residues

Confidence breakdown

Very high(≥ 90)84%
Confident(70–90)12%
Low(50–70)4%
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
Familial hyperparathyroidism or hypocalciuric hypercalcaemia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Familial hypoparathyroidism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal tubulopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Nephrocalcinosis or nephrolithiasis
Pigmentary skin disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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Disease associations (Open Targets)

Familial isolated hypoparathyroidism
0.75
familial hypocalciuric hypercalcemia 2
0.71
Familial hypocalciuric hypercalcemia type 2
0.66
autosomal dominant hypocalcemia
0.61
congenital hemangioma
0.49
uveal melanoma
0.47
phakomatosis pigmentovascularis
0.38
lung carcinoma
0.37
superficial spreading melanoma
0.37
nodular malignant melanoma
0.37

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

Protein function (UniProt)

Guanine nucleotide-binding protein subunit alpha-11

Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades (PubMed:31073061). The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state (PubMed:31073061). Signaling by an activated GPCR promotes GDP release and GTP binding (PubMed:31073061). The alpha subunit has a low GTPase activity that converts bound GTP to GDP, thereby terminating the signal (PubMed:31073061). Both GDP release and GTP hydrolysis are modulated by numerous regulatory proteins (PubMed:31073061). Signaling is mediated via phospholipase C-beta-dependent inositol lipid hydrolysis for signal propagation: activates phospholipase C-beta: following GPCR activation, GNA11 activates PLC-beta (PLCB1, PLCB2, PLCB3 or PLCB4), leading to production of diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) (PubMed:31073061). Transduces FFAR4 signaling in response to long-chain fatty acids (LCFAs) (PubMed:27852822). Together with GNAQ, required for heart development (By similarity). In the respiratory epithelium, transmits OXGR1-dependent signals that lead to downstream intracellular Ca(2+) release and mucocilliary clearance of airborne pathogens