GENE REFERENCE / HGNC:4387

GNAI3

G protein subunit alpha i3

protein-coding gene1p13.3Gene information

What does this gene do?

The GNAI3 gene provides instructions for making one part, the GNAI3 inhibitory alpha subunit, of a protein complex called a guanine nucleotide-binding protein (G protein). G proteins are composed of three protein subunits: alpha, beta, and gamma. Each of these subunits is produced from a different gene.

Through a process called signal transduction, G proteins trigger a complex network of signaling pathways within cells. These pathways help transmit information from the outside of the cell to the inside of the cell. Specifically, G proteins that are made with the GNAI3 inhibitory alpha subunit reduce (inhibit) the activity of an enzyme called adenylyl cyclase. This enzyme is important for transmitting information within cells. By influencing many cell activities, G protein signaling helps cells grow and divide or take on specialized functions.

Studies suggest that G protein signaling that involves the GNAI3 inhibitory alpha subunit contributes to the development of the first and second pharyngeal arches. During early development, these structures develop into the bones and tissues of the head and face, including the jawbones, facial muscles, and inner and outer ears.

Source: MedlinePlus, National Library of Medicine. Source publication: 2025-08-18. Source review: 2025-08.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
auriculocondylar syndromeMONDO:0000107 · Evaluated 2026-05-21	Autosomal dominant	ModerateCraniofacial Malformations Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 139
Submissions for variants in or overlapping this gene: 185
Submissions explicitly reporting this gene: 155
Alleles reported pathogenic / likely pathogenic: 9
VariationIDs with uncertain significance: 62
VariationIDs with conflicting classifications: 1

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about GNAI3?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 9 alleles in GNAI3 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in GNAI3.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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