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ATP6V1B1

Synonyms
ATP6B1, DRTA2, RTA1B, VATB, VMA2, VPP3
External resources
Summary
This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of two V1 domain B subunit isoforms and is found in the kidney. Mutations in this gene cause distal renal tubular acidosis associated with sensorineural deafness.

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
11
Likely pathogenic
0
VUS
9,385
Likely benign
3,312
Benign
1,961

Patient phenotypes

Proportions of phenotypes among 11 patients carrying pathogenic or likely pathogenic variants on ATP6V1B1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
54.5%
Abnormality of the musculoskeletal system
45.5%
Abnormality of head or neck
27.3%
Growth abnormality
27.3%
Abnormality of limbs
18.2%
Abnormality of the ear
18.2%
Abnormality of the eye
18.2%
Abnormality of the digestive system
9.1%
Abnormality of the endocrine system
9.1%
Abnormality of the integument
9.1%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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