GNAI3

Chr 1p13.3

G protein subunit alpha i3

Aliases:: 87U6
MANE:: ENST00000369851.7

OMIM: 139370 ↗NCBI: 2773 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

GNAI3 · P08754

v62025-08-01

Predicted Aligned Error matrix for GNAI3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

93.8/ 100

Very high

354 residues

Confidence breakdown

Very high(≥ 90)87%
Confident(70–90)10%
Low(50–70)2%
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
Deafness and congenital structural abnormalities
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Albinism or congenital nystagmus
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Clefting
Infantile nystagmus
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ocular and oculo-cutaneous albinism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

auriculocondylar syndrome
0.76
Agnathia - holoprosencephaly - situs inversus
0.37
hereditary disease
0.19
Abnormality of the skeletal system
0.16
autosomal recessive spondylocostal dysostosis
0.08
frozen shoulder
0.08
spondylolisthesis
0.08
Familial Scheuermann disease
0.08
Scheuermann disease
0.08
metabolic dysfunction-associated steatotic liver disease
0.08

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

Protein function (UniProt)

Guanine nucleotide-binding protein G(i) subunit alpha-3

Heterotrimeric guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades. The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state. Signaling by an activated GPCR promotes GDP release and GTP binding. 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 (PubMed:18434541, PubMed:19478087, PubMed:8774883). Signaling is mediated via effector proteins, such as adenylate cyclase. Inhibits adenylate cyclase activity, leading to decreased intracellular cAMP levels (PubMed:19478087). Stimulates the activity of receptor-regulated K(+) channels (PubMed:2535845). The active GTP-bound form prevents the association of RGS14 with centrosomes and is required for the translocation of RGS14 from the cytoplasm to the plasma membrane. May play a role in cell division (PubMed:17635935). The active GTP-bound form activates the calcium permeant TRPC5 ion channels (PubMed:37137991)