TCIRG1 Chromosome 11
T cell immune regulator 1, ATPase H+ transporting V0 subunit a3
Upload your DNA to see your personal genotypes for variants in TCIRG1.
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 |
|---|---|---|---|
| RS2134455159 | Health Risk | Pathogenic | — |
| RS2134456106 | Health Risk | Pathogenic | — |
| RS2134459706 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2134460391 | Health Risk | Pathogenic | — |
| RS2134460930 | Health Risk | Pathogenic | — |
| RS2134464569 | Health Risk | Pathogenic | — |
| RS2134465013 | Health Risk | Pathogenic | — |
| RS2134466412 | Health Risk | Pathogenic | — |
| RS2495606713 | Health Risk | Pathogenic | — |
| RS2495606969 | Health Risk | Pathogenic | — |
| RS2495615815 | Health Risk | Pathogenic | — |
| RS2495620313 | Health Risk | Pathogenic | — |
| RS2495620772 | Health Risk | Pathogenic | — |
| RS2495621829 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495627084 | Health Risk | Pathogenic | — |
| RS2495627191 | Health Risk | Pathogenic | — |
| RS2495628145 | Health Risk | Pathogenic | — |
| RS2495628204 | Health Risk | Pathogenic | — |
| RS2495631978 | Health Risk | Pathogenic | — |
| RS2495632574 | Health Risk | Pathogenic | — |
| RS2495643928 | Health Risk | Pathogenic | — |
| RS2495644078 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495646763 | Health Risk | Pathogenic | — |
| RS2495647377 | Health Risk | Pathogenic | — |
| RS2495647470 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495647817 | Health Risk | Pathogenic | — |
| RS2495649241 | Health Risk | Pathogenic | — |
| RS2495657679 | Health Risk | Pathogenic | — |
| RS2495664346 | Health Risk | Pathogenic | — |
| RS2495667015 | Health Risk | Pathogenic | — |
| RS2495668180 | Health Risk | Pathogenic | — |
| RS2495670898 | Health Risk | Pathogenic | — |
| RS2495670907 | Health Risk | Pathogenic | — |
| RS2495671299 | Health Risk | Pathogenic | — |
| RS371263807 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 1, Osteopetrosis, Autosomal recessive osteopetrosis 1 |
| RS746497338 | Health Risk | Pathogenic | — |
| RS747511049 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS748659068 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS749361897 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS760350445 | Health Risk | Pathogenic | — |
| RS761918801 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 1, Osteopetrosis, Autosomal recessive osteopetrosis 1 |
| RS766178412 | Health Risk | Pathogenic | — |
| RS776436008 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 1, Osteopetrosis, Autosomal recessive osteopetrosis 1 |
| RS780755928 | Health Risk | Pathogenic | — |
| RS886048594 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS895239701 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1003722483 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1159666762 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive osteopetrosis 1, Osteopetrosis, Autosomal recessive osteopetrosis 1 |
| RS1182235762 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1189520104 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |