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 |
|---|---|---|---|
| RS775657670 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS866821968 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS917505107 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS941433066 | Health Risk | Likely pathogenic | — |
| RS1028394725 | Health Risk | Pathogenic | Osteopetrosis, Autosomal recessive osteopetrosis 1, Osteopetrosis |
| RS1156299579 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1160085107 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1182508823 | Health Risk | Pathogenic | — |
| RS1184015240 | Health Risk | Pathogenic | — |
| RS1197237618 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1293760338 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1342609077 | Health Risk | Pathogenic | — |
| RS1346704603 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1366709820 | Health Risk | Pathogenic | — |
| RS137853149 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS138049763 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1387903645 | Health Risk | Pathogenic | TCIRG1-related disorder, TCIRG1-related disorder |
| RS1392364437 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS139617644 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 1, Osteopetrosis, TCIRG1-related disorder |
| RS1418193014 | Health Risk | Pathogenic | — |
| RS1418553655 | Health Risk | Pathogenic | — |
| RS1431956318 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1461150815 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1470999303 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1475338876 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1489993984 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1554995009 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1554995115 | Health Risk | Pathogenic | — |
| RS1554995341 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1554995582 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1554995715 | Health Risk | Pathogenic | — |
| RS1554996130 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1554997818 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1839400126 | Health Risk | Pathogenic | — |
| RS1855151891 | Health Risk | Pathogenic | — |
| RS1855280375 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1855645373 | Health Risk | Pathogenic | — |
| RS1855660497 | Health Risk | Pathogenic | — |
| RS1855668626 | Health Risk | Pathogenic | — |
| RS1855732540 | Health Risk | Pathogenic | — |
| RS1855750271 | Health Risk | Pathogenic | — |
| RS199914625 | Health Risk | Pathogenic | — |
| RS2134432441 | Health Risk | Pathogenic | — |
| RS2134437974 | Health Risk | Pathogenic | — |
| RS2134438856 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2134440422 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2134441979 | Health Risk | Pathogenic | — |
| RS2134442342 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2134454279 | Health Risk | Pathogenic | TCIRG1-related disorder, Autosomal recessive osteopetrosis 1, TCIRG1-related disorder |
| RS2134454644 | Health Risk | Pathogenic | — |