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	ATP6V0D2
Symbol Alias	FLJ38708, VMA6, ATP6D2
Approved Name	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2
Previous Name	ATPase, H+ transporting, lysosomal 38kD, V0 subunit d isoform 2, "ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 2", "ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D2"
Location	8q21.3
Position	chr8:86999552-87166457, +
External Links	HGNC: 18266 Entrez Gene: 245972 Ensembl: ENSG00000147614 UCSC: uc003ydp.1
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by CNV

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Williams[2010]_6	chr8:85438801-88424995 (NCBI Build 36.1 (hg18))	2935186	8q21.2-8q21.3	Loss	Paternal

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 16)

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

GO terms by database search (count: 16)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0051701	interaction with host	Biological Process		10
GO:0055085	transmembrane transport	Biological Process		82
GO:0090382	phagosome maturation	Biological Process		10
GO:0016471	vacuolar proton-transporting V-type ATPase complex	Cellular Component	IDA[18752060]	3
GO:0030670	phagocytic vesicle membrane	Cellular Component		8
GO:0033179	proton-transporting V-type ATPase, V0 domain	Cellular Component		1
GO:0033572	transferrin transport	Biological Process		6
GO:0005515	protein binding	Molecular Function	IPI[18752060]	910
GO:0016324	apical plasma membrane	Cellular Component	IDA[15800125]	51
GO:0016020	membrane	Cellular Component	IDA[18752060]	139
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:0006879	cellular iron ion homeostasis	Biological Process		12
GO:0005769	early endosome	Cellular Component		25

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 ATP6V0D2 (count: 7)

Gene Symbol	Pathway Count	Pathway List
ATP6V0A2	11	interaction with host; transmembrane transport; phagosome maturation; phagocytic vesicle membrane; transferrin transport; protein binding; ATP hydrolysis coupled proton transport; hydrogen ion transmembrane transporter activity; endosome membrane; insulin receptor signaling pathway; cellular iron ion homeostasis;
ATP6V1F	11	interaction with host; transmembrane transport; phagosome maturation; vacuolar proton-transporting V-type ATPase complex; transferrin transport; protein binding; membrane; ATP hydrolysis coupled proton transport; hydrogen ion transmembrane transporter activity; insulin receptor signaling pathway; cellular iron ion homeostasis;
TCIRG1	11	interaction with host; transmembrane transport; phagosome maturation; phagocytic vesicle membrane; transferrin transport; apical plasma membrane; ATP hydrolysis coupled proton transport; hydrogen ion transmembrane transporter activity; endosome membrane; insulin receptor signaling pathway; cellular iron ion homeostasis;
ATP6V1C2	7	interaction with host; transmembrane transport; phagosome maturation; transferrin transport; ATP hydrolysis coupled proton transport; insulin receptor signaling pathway; cellular iron ion homeostasis;
ATP6V1G1	7	interaction with host; transmembrane transport; phagosome maturation; vacuolar proton-transporting V-type ATPase complex; transferrin transport; insulin receptor signaling pathway; cellular iron ion homeostasis;
CYBA	5	interaction with host; phagosome maturation; phagocytic vesicle membrane; protein binding; apical plasma membrane;
SLC11A1	5	interaction with host; transmembrane transport; phagosome maturation; phagocytic vesicle membrane; cellular iron ion homeostasis;

Genes shared at least 2 KEGG pathways with ATP6V0D2 (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;
TCIRG1	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: chr8:86999552..87166457 View in gBrowse