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Gene Report
Basic Info
| Approved Symbol | ATP6V0A2 |
|---|---|
| Symbol Alias | TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1 |
| Approved Name | ATPase, H+ transporting, lysosomal V0 subunit a2 |
| Previous Name | infantile malignant osteopetrosis, "ATPase, H+ transporting, lysosomal V0 subunit a isoform 2", "ATPase, H+ transporting, lysosomal V0 subunit A2" |
| Name Alias | infantile malignant osteopetrosis |
| Location | 12q24.31 |
| Position | chr12:124196865-124246302, + |
| External Links |
HGNC: 18481 Entrez Gene: 23545 Ensembl: ENSG00000185344 UCSC: uc001ufr.2 |
| 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_Jarick[2012]_26 | chr12:122465458-124605386 (NCBI36 / hg18) | 2139929 | 12q24.31-12q24.32 | dup |
Gene related other variant (count: 0)
Gene related regions (count: 0)
Gene related GO terms (count: 17)
GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)
GO terms by database search (count: 17)
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 ATP6V0A2 (count: 12)
Genes shared at least 2 KEGG pathways with ATP6V0A2 (count: 38)
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Region: chr12:124196865..124246302 View in gBrowse
Copyright: Bioinformatics Lab, Institute of Psychology, Chinese Academy of Sciences Feedback
Last update: Feb 26, 2014