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GNA11

Synonyms
FBH, FBH2, FHH2, GNA-11, HG1K, HHC2, HYPOC2
External resources
Summary
The protein encoded by this gene belongs to the family of guanine nucleotide-binding proteins (G proteins), which function as modulators or transducers in various transmembrane signaling systems. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes one of the alpha subunits (subunit alpha-11). Mutations in this gene have been associated with hypocalciuric hypercalcemia type II (HHC2) and hypocalcemia dominant 2 (HYPOC2). Patients with HHC2 and HYPOC2 exhibit decreased or increased sensitivity, respectively, to changes in extracellular calcium concentrations.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
46
Likely pathogenic
0
VUS
10,449
Likely benign
2,214
Benign
163

Patient phenotypes

Proportions of phenotypes among 40 patients carrying pathogenic or likely pathogenic variants on GNA11 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
50%
Abnormality of the musculoskeletal system
37.5%
Abnormality of head or neck
30%
Abnormality of the integument
20%
Growth abnormality
17.5%
Abnormality of limbs
15%
Abnormality of the ear
15%
Abnormality of the cardiovascular system
12.5%
Abnormality of the eye
12.5%
Abnormality of the digestive system
10%
Abnormality of blood and blood-forming tissues
7.5%
Abnormality of the immune system
7.5%
Abnormality of the genitourinary system
5%
Abnormality of prenatal development or birth
2.5%
Abnormality of the endocrine system
2.5%
Constitutional symptom
2.5%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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