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 |
|---|---|---|---|
| RS745876497 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS751881962 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 1, Inborn genetic diseases, Autosomal recessive osteopetrosis |
| RS763065648 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 1, Inborn genetic diseases, Autosomal recessive osteopetrosis 1 |
| RS763119311 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 1, TCIRG1-related disorder, Autosomal recessive osteopetrosis 1 |
| RS764617954 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS769840926 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS771198568 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 1, Inborn genetic diseases, TCIRG1-related disorder |
| RS772355396 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS773402451 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 1, Inborn genetic diseases, Autosomal recessive osteopetrosis 1 |
| RS774906865 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS775902505 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS779281265 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS78820476 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 1, TCIRG1-related disorder, Autosomal recessive osteopetrosis 1 |
| RS886042823 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS886048597 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 1, TCIRG1-related disorder, Autosomal recessive osteopetrosis 1 |
| RS928213157 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive osteopetrosis 1, TCIRG1-related disorder, Autosomal recessive osteopetrosis 1 |
| RS1057517365 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS113982129 | Health Risk | Likely pathogenic | — |
| RS1158449736 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1197127947 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1385741705 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1439348400 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1458295257 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1554995330 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1554995350 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1554995381 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1554995522 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1554995706 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1554995891 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1554997884 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1554997997 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1554998061 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1554999205 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1, Malignant tumor of esophagus |
| RS1554999516 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1554999769 | Health Risk | Likely pathogenic | — |
| RS1555000308 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1565165023 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1590803008 | Health Risk | Likely pathogenic | — |
| RS1590804397 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1590807544 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1590819770 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1590819834 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1855236679 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1855256745 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1855290865 | Health Risk | Likely pathogenic | — |
| RS1855356909 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1855400542 | Health Risk | Likely pathogenic | — |
| RS1855570841 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1855576051 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS201172503 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |