TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3)

2014-02-01  

Identity

HGNC
TCIRG1
LOCATION
11q13.2
LOCUSID
10312
ALIAS
ATP6N1C,ATP6V0A3,Atp6i,OC-116kDa,OC116,OPTB1,Stv1,TIRC7,Vph1,a3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10312
MIM: 604592
HGNC: 11647
Ensembl: ENSG00000110719

Variants:

dbSNP: 10312
ClinVar: 10312
TCGA: ENSG00000110719
COSMIC: TCIRG1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000110719ENST00000265686Q13488
ENSG00000110719ENST00000265686A0A024R5E5
ENSG00000110719ENST00000524598E9PNA6
ENSG00000110719ENST00000528981H0YEL3
ENSG00000110719ENST00000529364H0YCE3
ENSG00000110719ENST00000529657E9PM12
ENSG00000110719ENST00000530063Q8TCH1
ENSG00000110719ENST00000532635Q13488
ENSG00000110719ENST00000534673E9PMC5

Expression (GTEx)

0
50
100
150
200
250
300
350
400
450
500
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Oxidative phosphorylationKEGGko00190
Vibrio cholerae infectionKEGGko05110
Epithelial cell signaling in Helicobacter pylori infectionKEGGko05120
Oxidative phosphorylationKEGGhsa00190
Vibrio cholerae infectionKEGGhsa05110
Epithelial cell signaling in Helicobacter pylori infectionKEGGhsa05120
LysosomeKEGGko04142
LysosomeKEGGhsa04142
Metabolic pathwaysKEGGhsa01100
Collecting duct acid secretionKEGGko04966
Collecting duct acid secretionKEGGhsa04966
PhagosomeKEGGko04145
PhagosomeKEGGhsa04145
Rheumatoid arthritisKEGGko05323
Rheumatoid arthritisKEGGhsa05323
TuberculosisKEGGko05152
TuberculosisKEGGhsa05152
Synaptic vesicle cycleKEGGko04721
Synaptic vesicle cycleKEGGhsa04721
V-type ATPase, eukaryotesKEGGhsa_M00160
V-type ATPase, eukaryotesKEGGM00160
ROS, RNS production in phagocytesREACTOMER-HSA-1222556
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Signal TransductionREACTOMER-HSA-162582
Signaling by Insulin receptorREACTOMER-HSA-74752
Insulin receptor recyclingREACTOMER-HSA-77387
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Iron uptake and transportREACTOMER-HSA-917937
Transferrin endocytosis and recyclingREACTOMER-HSA-917977
Ion channel transportREACTOMER-HSA-983712
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA443890Diabetes Mellitus, Type 2DiseaseLiterature, MultilinkAnnotationassociated24595071

References

Pubmed IDYearTitleCitations
382619982024Autosomal Dominant Osteopetrosis (ADO) Caused by a Missense Variant in the TCIRG1 Gene.0
382619982024Autosomal Dominant Osteopetrosis (ADO) Caused by a Missense Variant in the TCIRG1 Gene.0
371076572023Outlining the Clinical Profile of TCIRG1 14 Variants including 5 Novels with Overview of ARO Phenotype and Ethnic Impact in 20 Egyptian Families.0
371076572023Outlining the Clinical Profile of TCIRG1 14 Variants including 5 Novels with Overview of ARO Phenotype and Ethnic Impact in 20 Egyptian Families.0
359816972022Osteoclast rich osteopetrosis due to defects in the TCIRG1 gene.6
359816972022Osteoclast rich osteopetrosis due to defects in the TCIRG1 gene.6
345457122021Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis.5
345457122021Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis.5
320855852020The Vacuolar H(+) ATPase α3 Subunit Negatively Regulates Migration and Invasion of Human Pancreatic Ductal Adenocarcinoma Cells.10
323196552020TIRC7 inhibits Th1 cells by upregulating the expression of CTLA‑4 and STAT3 in mice with acute graft‑versus‑host disease.3
320855852020The Vacuolar H(+) ATPase α3 Subunit Negatively Regulates Migration and Invasion of Human Pancreatic Ductal Adenocarcinoma Cells.10
323196552020TIRC7 inhibits Th1 cells by upregulating the expression of CTLA‑4 and STAT3 in mice with acute graft‑versus‑host disease.3
304311102019CLCN7 and TCIRG1 mutations in a single family: Evidence for digenic inheritance of osteopetrosis.3
305375582019Sclerosing bone dysplasias with hallmarks of dysosteosclerosis in four patients carrying mutations in SLC29A3 and TCIRG1.7
308987152019TCIRG1 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)