TCIRG1 Chromosome 11
T cell immune regulator 1, ATPase H+ transporting V0 subunit a3
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What This Gene Does
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. [provided by RefSeq, May 2017]
Gene Info
Gene Group
"V-type ATPase subunits|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
11q13.2
Ensembl
ENSG00000110719
Associated Conditions (20)
Autosomal recessive osteopetrosis 1
TCIRG1-related disorder
Inborn genetic diseases
Neutropenia
severe congenital
1
autosomal dominant
Disorder of bone
Gastric cancer
Papillary renal cell carcinoma type 1
Malignant tumor of esophagus
Mitochondrial complex I deficiency
nuclear type 2
Autosomal recessive osteopetrosis
Osteopetrosis
Abnormality of the skeletal system
Chorea-acanthocytosis
Clear cell carcinoma of kidney
Thyroid cancer
nonmedullary
Key Variants
RS111424326
Conflicting classifications of pathogenicity
Health Risk
RS116001129
Conflicting classifications of pathogenicity
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
Health Risk
RS1241903068
Conflicting classifications of pathogenicity
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
Health Risk
RS1263185890
Conflicting classifications of pathogenicity
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
Health Risk
RS1338631330
Conflicting classifications of pathogenicity
Autosomal recessive osteopetrosis 1, TCIRG1-related disorder, Autosomal recessive osteopetrosis 1
Health Risk
RS138527421
Conflicting classifications of pathogenicity
Autosomal recessive osteopetrosis 1, TCIRG1-related disorder, Autosomal recessive osteopetrosis 1
Health Risk
RS139049989
Conflicting classifications of pathogenicity
Autosomal recessive osteopetrosis 1, TCIRG1-related disorder, Autosomal recessive osteopetrosis 1
Health Risk
RS139263189
Conflicting classifications of pathogenicity
Autosomal recessive osteopetrosis 1, Inborn genetic diseases, Autosomal recessive osteopetrosis 1
Health Risk
RS140191063
Conflicting classifications of pathogenicity
TCIRG1-related disorder, TCIRG1-related disorder
Health Risk
RS140963213
Conflicting classifications of pathogenicity
Autosomal recessive osteopetrosis 1, Neutropenia, severe congenital
Health Risk
RS141356870
Conflicting classifications of pathogenicity
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
Health Risk
RS141474168
Conflicting classifications of pathogenicity
Autosomal recessive osteopetrosis 1, Inborn genetic diseases, Autosomal recessive osteopetrosis 1
Health Risk
All Variants (291)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS111424326 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS116001129 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1241903068 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1263185890 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1338631330 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 1, TCIRG1-related disorder, Autosomal recessive osteopetrosis 1 |
| RS138527421 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 1, TCIRG1-related disorder, Autosomal recessive osteopetrosis 1 |
| RS139049989 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 1, TCIRG1-related disorder, Autosomal recessive osteopetrosis 1 |
| RS139263189 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 1, Inborn genetic diseases, Autosomal recessive osteopetrosis 1 |
| RS140191063 | Health Risk | Conflicting classifications of pathogenicity | TCIRG1-related disorder, TCIRG1-related disorder |
| RS140963213 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 1, Neutropenia, severe congenital |
| RS141356870 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS141474168 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 1, Inborn genetic diseases, Autosomal recessive osteopetrosis 1 |
| RS141859450 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 1, Gastric cancer, Papillary renal cell carcinoma type 1 |
| RS142539969 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1436170727 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS144158792 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 1, Papillary renal cell carcinoma type 1, Autosomal recessive osteopetrosis 1 |
| RS144775787 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 1, Inborn genetic diseases, TCIRG1-related disorder |
| RS145080707 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 1, TCIRG1-related disorder, Autosomal recessive osteopetrosis 1 |
| RS145144233 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS145718040 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 1, TCIRG1-related disorder, Autosomal recessive osteopetrosis 1 |
| RS147102889 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS147119709 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 1, TCIRG1-related disorder, Autosomal recessive osteopetrosis 1 |
| RS148619884 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS150788130 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS151180675 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 1, TCIRG1-related disorder, Autosomal recessive osteopetrosis 1 |
| RS1554995901 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1554999033 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1555000376 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS183885218 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 1, TCIRG1-related disorder, Autosomal recessive osteopetrosis 1 |
| RS1855249165 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS199554924 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS199632510 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 1, TCIRG1-related disorder, Autosomal recessive osteopetrosis 1 |
| RS199696448 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200879286 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS34227834 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS370181947 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 1, TCIRG1-related disorder, Autosomal recessive osteopetrosis 1 |
| RS370572421 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS371505143 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS372404641 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS372826788 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS373244328 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 1, TCIRG1-related disorder, Autosomal recessive osteopetrosis 1 |
| RS375317575 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 1, TCIRG1-related disorder, Autosomal recessive osteopetrosis 1 |
| RS377034463 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 1, Mitochondrial complex I deficiency, nuclear type 2 |
| RS377606178 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 1, TCIRG1-related disorder, Autosomal recessive osteopetrosis 1 |
| RS534950651 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS543099977 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 1, TCIRG1-related disorder, Autosomal recessive osteopetrosis 1 |
| RS555362865 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS559772650 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS570336313 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS745521166 | Health Risk | Conflicting classifications of pathogenicity | — |