GENE REFERENCE / HGNC:4379

GNA11

G protein subunit alpha 11

protein-coding gene19p13.3Gene information

What does this gene do?

The GNA11 gene provides instructions for making one component, the alpha (α) subunit, of a protein complex called a guanine nucleotide-binding protein (G protein). Each G protein is composed of three proteins called the alpha, beta, and gamma subunits. Specifically, the protein produced from the GNA11 gene, called Gα₁₁, is the alpha subunit for a G protein called G₁₁.

In a process called signal transduction, G proteins trigger a complex network of signaling pathways that ultimately influence many cell functions. The G₁₁ protein plays many roles in cells. It works with another protein called the calcium-sensing receptor (CaSR) to affect processes that regulate calcium levels in the blood. CaSR proteins in kidney cells and cells of the parathyroid gland sense when a certain concentration of calcium in the blood is reached; the CaSR protein then stimulates the G₁₁ subunits, including Gα₁₁, to send signals that block processes that increase the amount of calcium in the blood. In particular, this signaling blocks the production and release of a hormone called parathyroid hormone. Parathyroid hormone enhances the release of calcium into the blood, so blocking this hormone prevents calcium release. In the kidneys, which filter fluid and waste products in the body and can reabsorb needed nutrients and release them back into the blood, G₁₁ signaling blocks the reabsorption of calcium from the filtered fluids.

G₁₁ signaling is also involved in the growth and division (proliferation) and self-destruction (apoptosis) of cells in tissues throughout the body, including those in the eyes, skin, heart, and brain.

Source: MedlinePlus, National Library of Medicine. Source publication: 2023-04-11. Source review: 2015-02.

ClinGen reviews

We found no matching ClinGen review in the data used here. This does not rule out a link between the gene and a condition.

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: 484
Submissions for variants in or overlapping this gene: 703
Submissions explicitly reporting this gene: 659
Alleles reported pathogenic / likely pathogenic: 28
VariationIDs with uncertain significance: 182
VariationIDs with conflicting classifications: 8

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 GNA11?

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 28 alleles in GNA11 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 GNA11.

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

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