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 |
|---|---|---|---|
| RS1208311085 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive osteopetrosis 1, Osteopetrosis, Autosomal recessive osteopetrosis 1 |
| RS1214876593 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1269558164 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive osteopetrosis 1, Osteopetrosis, Autosomal recessive osteopetrosis 1 |
| RS1295614525 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1300297240 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive osteopetrosis 1, TCIRG1-related disorder, Autosomal recessive osteopetrosis 1 |
| RS1327818531 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS137853150 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive osteopetrosis 1, Osteopetrosis, Autosomal recessive osteopetrosis 1 |
| RS137853151 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1565156743 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1565164499 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1590817956 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive osteopetrosis 1, Osteopetrosis, Autosomal recessive osteopetrosis 1 |
| RS1855343916 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1855347940 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1855589148 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1855655612 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1855697254 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS200851583 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2134432498 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2134436277 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2134437954 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2134455003 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2134455254 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2134455711 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2134462969 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495614644 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495622382 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495627659 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495628456 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495648021 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495667919 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495671613 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive osteopetrosis 1, Osteopetrosis, Autosomal recessive osteopetrosis 1 |
| RS377303800 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS751988410 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS758977199 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS767301647 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS774578979 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS777785526 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS780311417 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS780745598 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS903939170 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS979358405 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |