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 |
|---|---|---|---|
| RS2134430922 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2134455141 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2134455719 | Health Risk | Likely pathogenic | — |
| RS2134462513 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495606596 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495609536 | Health Risk | Likely pathogenic | — |
| RS2495609540 | Health Risk | Likely pathogenic | — |
| RS2495609866 | Health Risk | Likely pathogenic | — |
| RS2495615155 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495615976 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495616858 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495616947 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495617188 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495617582 | Health Risk | Likely pathogenic | — |
| RS2495620146 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495620930 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495623863 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495624005 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495626690 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495628251 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495631727 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495632090 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495632459 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495632672 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495644292 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495644759 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495645977 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, TCIRG1-related disorder, Autosomal recessive osteopetrosis 1 |
| RS2495646107 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495647732 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495649079 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495655889 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495657837 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495658074 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495659079 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495659749 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495664524 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495664561 | Health Risk | Likely pathogenic | — |
| RS2495666254 | Health Risk | Likely pathogenic | — |
| RS2495666879 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495667681 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495668378 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495671574 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS369264588 | Health Risk | Likely pathogenic | Osteopetrosis, Autosomal recessive osteopetrosis 1, Abnormality of the skeletal system |
| RS587779413 | Health Risk | Likely pathogenic | — |
| RS747048627 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS762259521 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS765444519 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS771271907 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS773769785 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS774308815 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Chorea-acanthocytosis, Autosomal recessive osteopetrosis 1 |