ADHDgene Database

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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

Gene Report

Basic Info

Approved Symbol	TCIRG1
Symbol Alias	TIRC7, OC-116, OC116, ATP6N1C, Atp6i, a3, ATP6V0A3
Approved Name	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
Previous Name	T-cell, immune regulator 1, "T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3", "T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3"
Name Alias	T-cell immune response cDNA 7
Location	11q13.2
Position	chr11:67806483-67818366, +
External Links	HGNC: 11647 Entrez Gene: 10312 UCSC: uc001one.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by significant region

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 1)

Region Name	Position	No. of Studies (significant/non-significant/trend)
11q	chr11:53700000-135006516	2 (1/1/0)

Gene related GO terms (count: 19)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)

GO terms by database search (count: 19)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0090382	phagosome maturation	Biological Process		10
GO:0055085	transmembrane transport	Biological Process		82
GO:0051701	interaction with host	Biological Process		10
GO:0033572	transferrin transport	Biological Process		6
GO:0030670	phagocytic vesicle membrane	Cellular Component		8
GO:0016324	apical plasma membrane	Cellular Component	IDA[15800125]	51
GO:0015992	proton transport	Biological Process	TAS[8579597]	6
GO:0015991	ATP hydrolysis coupled proton transport	Biological Process		5
GO:0015078	hydrogen ion transmembrane transporter activity	Molecular Function		5
GO:0010008	endosome membrane	Cellular Component		27
GO:0008286	insulin receptor signaling pathway	Biological Process		32
GO:0008284	positive regulation of cell proliferation	Biological Process	TAS[9806637]	69
GO:0006968	cellular defense response	Biological Process	TAS[9806637]	12
GO:0005739	mitochondrion	Cellular Component		183
GO:0005886	plasma membrane	Cellular Component	TAS[9806637]	772
GO:0005887	integral to plasma membrane	Cellular Component	TAS[10329006]	220
GO:0006879	cellular iron ion homeostasis	Biological Process		12
GO:0000220	vacuolar proton-transporting V-type ATPase, V0 domain	Cellular Component		2
GO:0005215	transporter activity	Molecular Function	TAS[8579597]	41

Gene related KEGG pathways (count: 9)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa05120	Epithelial cell signaling in Helicobacter pylori infection	16	Two major virulence factors of H. pylori are the vacuolating...... Two major virulence factors of H. pylori are the vacuolating cytotoxin (VacA) and the cag type-IV secretion system (T4SS) and its translocated effector protein, cytotoxin-associated antigen A (CagA). More...
hsa05152	Tuberculosis	30	Tuberculosis, or TB, is an infectious disease caused by Myco...... Tuberculosis, or TB, is an infectious disease caused by Mycobacterium tuberculosis. One third of the world's population is thought to be infected with TB. About 90% of those infected result in latent infections, and about 10% of latent infections develop active diseases when their immune system is impaired due to the age, other diseases such as AIDS or exposure to immunosuppressive drugs. TB is transmitted through the air and primarily attacks the lungs, then it can spread by the circulatory system to other parts of body. Once TB bacilli have entered the host by the respiratory route and infected macrophages in the lungs, they interfere with phagosomal maturation, antigen presentation, apoptosis and host immune system to establish persistent or latent infection. More...
hsa01100	Metabolic pathways	237
hsa05110	Vibrio cholerae infection	10	Cholera toxin (CTX) is one of the main virulence factors of ...... Cholera toxin (CTX) is one of the main virulence factors of Vibrio cholerae. Once secreted, CTX B-chain (CTXB) binds to ganglioside GM1 on the surface of the host's cells. After binding takes place, the entire CTX complex is carried from plasma membrane (PM) to endoplasmic reticulum (ER). In the ER, the A-chain (CTXA) is recognized by protein disulfide isomerase (PDI), unfolded, and delivered to the membrane where the membrane-associated ER-oxidase, Ero1, oxidizes PDI to release the CTXA into the protein-conducting channel, Sec61. CTXA is then retro-translocated to the cytosol and induces water and electrolyte secretion by increasing cAMP levels via adenylate cyclase (AC) to exert toxicity. More...
hsa05323	Rheumatoid arthritis	17	Rheumatoid arthritis (RA) is a chronic autoimmune joint dise...... Rheumatoid arthritis (RA) is a chronic autoimmune joint disease where persistent inflammation affects bone remodeling leading to progressive bone destruction. In RA, abnormal activation of the immune system elevates pro-inflammatory cytokines and chemokines levels, which can promote synovial angiogenesis and leukocyte infiltration. The synovium forms a hyperplastic pannus with infiltrated macrophage-like and fibroblast-like synoviocytes and invades joints by secreting proteinases and inducing osteoclast differentiation. More...
hsa04145	Phagosome	32	Phagocytosis is the process of taking in relatively large pa...... Phagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is formed when the specific receptors on the phagocyte surface recognize ligands on the particle surface. After formation, nascent phagosomes progressively acquire digestive characteristics. This maturation of phagosomes involves regulated interaction with the other membrane organelles, including recycling endosomes, late endosomes and lysosomes. The fusion of phagosomes and lysosomes releases toxic products that kill most bacteria and degrade them into fragments. However, some bacteria have strategies to escape the bactericidal mechanisms associated with phagocytosis and survive within host phagocytes. More...
hsa04966	Collecting duct acid secretion	7	One of the important roles of the collecting duct segment of...... One of the important roles of the collecting duct segment of the kidney nephron is acid secretion. As daily food intake loads acid into the body, urinary acid excretion is essential, and urine pH can drop as low as 4.5. The alpha-intercalated cell of collecting duct is the main responsible for hydrogen secretion into the urine. The carbon dioxide, which is generated in the cells and enters from the blood, is changed to carbonic acid. This carbonic acid is divided into hydrogen ion and bicarbonate ion. Intracellular CA II catalyses the formation of these ions. The hydrogen ion is secreted into the lumen by the luminal H(+)-ATPase. The bicarbonate ion is transported to the blood side by the anion exchanger type 1. Hydrogen ion in the lumen is trapped by urinary buffers. These include ammonium and phosphate. More...
hsa00190	Oxidative phosphorylation	20
hsa04142	Lysosome	19	Lysosomes are membrane-delimited organelles in animal cells ...... Lysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than 40 hydrolases in an acidic environment (pH of about 5). After synthesis in the ER, lysosomal enzymes are decorated with mannose-6-phosphate residues, which are recognized by mannose-6-phosphate receptors in the trans-Golgi network. They are packaged into clathrin-coated vesicles and are transported to late endosomes. Substances for digestion are acquired by the lysosomes via a series of processes including endocytosis, phagocytosis, and autophagy. More...

Genes shared at least 5 GO terms with TCIRG1 (count: 7)

Gene Symbol	Pathway Count	Pathway List
ATP6V0A2	12	phagosome maturation; transmembrane transport; interaction with host; transferrin transport; phagocytic vesicle membrane; ATP hydrolysis coupled proton transport; hydrogen ion transmembrane transporter activity; endosome membrane; insulin receptor signaling pathway; plasma membrane; cellular iron ion homeostasis; vacuolar proton-transporting V-type ATPase, V0 domain;
ATP6V0D2	11	phagosome maturation; transmembrane transport; interaction with host; transferrin transport; phagocytic vesicle membrane; apical plasma membrane; ATP hydrolysis coupled proton transport; hydrogen ion transmembrane transporter activity; endosome membrane; insulin receptor signaling pathway; cellular iron ion homeostasis;
ATP6V1F	9	phagosome maturation; transmembrane transport; interaction with host; transferrin transport; proton transport; ATP hydrolysis coupled proton transport; hydrogen ion transmembrane transporter activity; insulin receptor signaling pathway; cellular iron ion homeostasis;
ATP6V1G1	8	phagosome maturation; transmembrane transport; interaction with host; transferrin transport; proton transport; insulin receptor signaling pathway; plasma membrane; cellular iron ion homeostasis;
ATP6V1C2	7	phagosome maturation; transmembrane transport; interaction with host; transferrin transport; ATP hydrolysis coupled proton transport; insulin receptor signaling pathway; cellular iron ion homeostasis;
SLC11A1	7	phagosome maturation; transmembrane transport; interaction with host; phagocytic vesicle membrane; plasma membrane; integral to plasma membrane; cellular iron ion homeostasis;
CYBA	5	phagosome maturation; interaction with host; phagocytic vesicle membrane; apical plasma membrane; mitochondrion;

Genes shared at least 2 KEGG pathways with TCIRG1 (count: 38)

Gene Symbol	Pathway Count	Pathway List
ATP6V0A2	9	Epithelial cell signaling in Helicobacter pylori infection; Tuberculosis; Metabolic pathways; Vibrio cholerae infection; Rheumatoid arthritis; Phagosome; Collecting duct acid secretion; Oxidative phosphorylation; Lysosome;
ATP6V0D2	9	Epithelial cell signaling in Helicobacter pylori infection; Tuberculosis; Metabolic pathways; Vibrio cholerae infection; Rheumatoid arthritis; Phagosome; Collecting duct acid secretion; Oxidative phosphorylation; Lysosome;
ATP6V1C2	7	Epithelial cell signaling in Helicobacter pylori infection; Metabolic pathways; Vibrio cholerae infection; Rheumatoid arthritis; Phagosome; Collecting duct acid secretion; Oxidative phosphorylation;
ATP6V1F	7	Epithelial cell signaling in Helicobacter pylori infection; Metabolic pathways; Vibrio cholerae infection; Rheumatoid arthritis; Phagosome; Collecting duct acid secretion; Oxidative phosphorylation;
ATP6V1G1	7	Epithelial cell signaling in Helicobacter pylori infection; Metabolic pathways; Vibrio cholerae infection; Rheumatoid arthritis; Phagosome; Collecting duct acid secretion; Oxidative phosphorylation;
PLCG2	3	Epithelial cell signaling in Helicobacter pylori infection; Metabolic pathways; Vibrio cholerae infection;
HLA-DRB1	3	Tuberculosis; Rheumatoid arthritis; Phagosome;
PIK3C3	3	Tuberculosis; Metabolic pathways; Phagosome;
TLR4	3	Tuberculosis; Rheumatoid arthritis; Phagosome;
MAPK9	2	Epithelial cell signaling in Helicobacter pylori infection; Tuberculosis;
RELA	2	Epithelial cell signaling in Helicobacter pylori infection; Tuberculosis;
TJP1	2	Epithelial cell signaling in Helicobacter pylori infection; Vibrio cholerae infection;
CORO1A	2	Tuberculosis; Phagosome;
FCGR2A	2	Tuberculosis; Phagosome;
FCGR2B	2	Tuberculosis; Phagosome;
FCGR2C	2	Tuberculosis; Phagosome;
FCGR3A	2	Tuberculosis; Phagosome;
FCGR3B	2	Tuberculosis; Phagosome;
IL18	2	Tuberculosis; Rheumatoid arthritis;
IL6	2	Tuberculosis; Rheumatoid arthritis;
ATP5L	2	Metabolic pathways; Oxidative phosphorylation;
COX4I1	2	Metabolic pathways; Oxidative phosphorylation;
COX7B2	2	Metabolic pathways; Oxidative phosphorylation;
COX8A	2	Metabolic pathways; Oxidative phosphorylation;
GALNS	2	Metabolic pathways; Lysosome;
NDUFA4L2	2	Metabolic pathways; Oxidative phosphorylation;
NDUFA5	2	Metabolic pathways; Oxidative phosphorylation;
NDUFA8	2	Metabolic pathways; Oxidative phosphorylation;
NDUFAB1	2	Metabolic pathways; Oxidative phosphorylation;
NDUFC2	2	Metabolic pathways; Oxidative phosphorylation;
NDUFS3	2	Metabolic pathways; Oxidative phosphorylation;
NDUFS8	2	Metabolic pathways; Oxidative phosphorylation;
NDUFV1	2	Metabolic pathways; Oxidative phosphorylation;
NOS1	2	Metabolic pathways; Phagosome;
SDHD	2	Metabolic pathways; Oxidative phosphorylation;
SMPD1	2	Metabolic pathways; Lysosome;
UQCRC2	2	Metabolic pathways; Oxidative phosphorylation;
SEC61B	2	Vibrio cholerae infection; Phagosome;

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Region: chr11:67806483..67818366 View in gBrowse