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TCIRG1

Synonyms
ATP6N1C, ATP6V0A3, Atp6i, OC-116kDa, OC116, OPTB1, Stv1, TIRC7, Vph1, a3
External resources
Summary
This gene encodes a subunit of a large protein complex known as a vacuolar H+-ATPase (V-ATPase). The protein complex acts as a pump to move protons across the membrane. This movement of protons helps regulate the pH of cells and their surrounding environment. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. V-ATPase is comprised of a cytosolic V1 domain and a transmembrane V0 domain. Alternative splicing results in multiple transcript variants. Mutations in this gene are associated with infantile malignant osteopetrosis.

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
14
Likely pathogenic
5
VUS
4,809
Likely benign
1,675
Benign
89

Patient phenotypes

Proportions of phenotypes among 19 patients carrying pathogenic or likely pathogenic variants on TCIRG1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
42.1%
Abnormality of head or neck
36.8%
Abnormality of the musculoskeletal system
31.6%
Abnormality of the digestive system
21.1%
Abnormality of the eye
21.1%
Growth abnormality
21.1%
Abnormality of blood and blood-forming tissues
15.8%
Abnormality of the cardiovascular system
15.8%
Abnormality of limbs
10.5%
Abnormality of the integument
10.5%
Abnormal cellular phenotype
5.3%
Abnormality of prenatal development or birth
5.3%
Abnormality of the ear
5.3%
Abnormality of the genitourinary system
5.3%
Abnormality of the immune system
5.3%
Abnormality of the respiratory system
5.3%
Constitutional symptom
5.3%
Neoplasm
5.3%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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