Identity
HGNC
LOCATION
11q13.2
LOCUSID
ALIAS
ATP6N1C,ATP6V0A3,Atp6i,OC-116kDa,OC116,OPTB1,Stv1,TIRC7,Vph1,a3
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 10312
MIM: 604592
HGNC: 11647
Ensembl: ENSG00000110719
Variants:
dbSNP: 10312
ClinVar: 10312
TCGA: ENSG00000110719
COSMIC: TCIRG1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA443890 | Diabetes Mellitus, Type 2 | Disease | Literature, MultilinkAnnotation | associated | 24595071 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38261998 | 2024 | Autosomal Dominant Osteopetrosis (ADO) Caused by a Missense Variant in the TCIRG1 Gene. | 0 |
| 38261998 | 2024 | Autosomal Dominant Osteopetrosis (ADO) Caused by a Missense Variant in the TCIRG1 Gene. | 0 |
| 37107657 | 2023 | Outlining the Clinical Profile of TCIRG1 14 Variants including 5 Novels with Overview of ARO Phenotype and Ethnic Impact in 20 Egyptian Families. | 0 |
| 37107657 | 2023 | Outlining the Clinical Profile of TCIRG1 14 Variants including 5 Novels with Overview of ARO Phenotype and Ethnic Impact in 20 Egyptian Families. | 0 |
| 35981697 | 2022 | Osteoclast rich osteopetrosis due to defects in the TCIRG1 gene. | 6 |
| 35981697 | 2022 | Osteoclast rich osteopetrosis due to defects in the TCIRG1 gene. | 6 |
| 34545712 | 2021 | Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis. | 5 |
| 34545712 | 2021 | Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis. | 5 |
| 32085585 | 2020 | The Vacuolar H(+) ATPase α3 Subunit Negatively Regulates Migration and Invasion of Human Pancreatic Ductal Adenocarcinoma Cells. | 10 |
| 32319655 | 2020 | TIRC7 inhibits Th1 cells by upregulating the expression of CTLA‑4 and STAT3 in mice with acute graft‑versus‑host disease. | 3 |
| 32085585 | 2020 | The Vacuolar H(+) ATPase α3 Subunit Negatively Regulates Migration and Invasion of Human Pancreatic Ductal Adenocarcinoma Cells. | 10 |
| 32319655 | 2020 | TIRC7 inhibits Th1 cells by upregulating the expression of CTLA‑4 and STAT3 in mice with acute graft‑versus‑host disease. | 3 |
| 30431110 | 2019 | CLCN7 and TCIRG1 mutations in a single family: Evidence for digenic inheritance of osteopetrosis. | 3 |
| 30537558 | 2019 | Sclerosing bone dysplasias with hallmarks of dysosteosclerosis in four patients carrying mutations in SLC29A3 and TCIRG1. | 7 |
| 30898715 | 2019 | TCIRG1 and SNX10 gene mutations in the patients with autosomal recessive osteopetrosis. | 4 |
Citation
Dessen P
TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3)
Atlas Genet Cytogenet Oncol Haematol. 2014-02-01
Online version: http://atlasgeneticsoncology.org/gene/53799/tcirg1-(t-cell-immune-regulator-1-atpase-h+-transporting-v0-subunit-a3)
