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	ATP6V1C2
Symbol Alias	VMA5, ATP6C2
Approved Name	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2
Previous Name	ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2, "ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2"
Location	2p25.1
Position	chr2:10861775-10925236, +
External Links	HGNC: 18264 Entrez Gene: 245973 Ensembl: ENSG00000143882 UCSC: uc002ras.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)
2p25.1	chr2:7100000-12200000	2 (1/0/1)

Gene related GO terms (count: 10)

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

GO terms by database search (count: 10)

ID	Name	Type	No. of Genes in ADHDgene
GO:0005829	cytosol	Cellular Component	447
GO:0090382	phagosome maturation	Biological Process	10
GO:0033180	proton-transporting V-type ATPase, V1 domain	Cellular Component	2
GO:0033572	transferrin transport	Biological Process	6
GO:0051701	interaction with host	Biological Process	10
GO:0055085	transmembrane transport	Biological Process	82
GO:0006879	cellular iron ion homeostasis	Biological Process	12
GO:0008286	insulin receptor signaling pathway	Biological Process	32
GO:0008553	hydrogen-exporting ATPase activity, phosphorylative mechanism	Molecular Function	1
GO:0015991	ATP hydrolysis coupled proton transport	Biological Process	5

Gene related KEGG pathways (count: 7)

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...
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

Genes shared at least 5 GO terms with ATP6V1C2 (count: 5)

Gene Symbol	Pathway Count	Pathway List
ATP6V1F	9	cytosol; phagosome maturation; proton-transporting V-type ATPase, V1 domain; transferrin transport; interaction with host; transmembrane transport; cellular iron ion homeostasis; insulin receptor signaling pathway; ATP hydrolysis coupled proton transport;
ATP6V1G1	7	cytosol; phagosome maturation; transferrin transport; interaction with host; transmembrane transport; cellular iron ion homeostasis; insulin receptor signaling pathway;
ATP6V0A2	7	phagosome maturation; transferrin transport; interaction with host; transmembrane transport; cellular iron ion homeostasis; insulin receptor signaling pathway; ATP hydrolysis coupled proton transport;
ATP6V0D2	7	phagosome maturation; transferrin transport; interaction with host; transmembrane transport; cellular iron ion homeostasis; insulin receptor signaling pathway; ATP hydrolysis coupled proton transport;
TCIRG1	7	phagosome maturation; transferrin transport; interaction with host; transmembrane transport; cellular iron ion homeostasis; insulin receptor signaling pathway; ATP hydrolysis coupled proton transport;

Genes shared at least 2 KEGG pathways with ATP6V1C2 (count: 26)

Gene Symbol	Pathway Count	Pathway List
ATP6V0A2	7	Epithelial cell signaling in Helicobacter pylori infection; Metabolic pathways; Vibrio cholerae infection; Rheumatoid arthritis; Phagosome; Collecting duct acid secretion; Oxidative phosphorylation;
ATP6V0D2	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;
TCIRG1	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;
TJP1	2	Epithelial cell signaling in Helicobacter pylori infection; Vibrio cholerae infection;
ATP5L	2	Metabolic pathways; Oxidative phosphorylation;
COX4I1	2	Metabolic pathways; Oxidative phosphorylation;
COX7B2	2	Metabolic pathways; Oxidative phosphorylation;
COX8A	2	Metabolic pathways; Oxidative phosphorylation;
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;
PIK3C3	2	Metabolic pathways; Phagosome;
SDHD	2	Metabolic pathways; Oxidative phosphorylation;
UQCRC2	2	Metabolic pathways; Oxidative phosphorylation;
SEC61B	2	Vibrio cholerae infection; Phagosome;
HLA-DRB1	2	Rheumatoid arthritis; Phagosome;
TLR4	2	Rheumatoid arthritis; Phagosome;

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Region: chr2:10861775..10925236 View in gBrowse