ATP6V1G2
Summary: This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of three V1 domain G subunit proteins. This gene had previous gene symbols of ATP6G and ATP6G2. Alternatively spliced transcript variants encoding different isoforms have been described. Read-through transcription also exists between this gene and the downstream DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B (DDX39B) gene. [provided by RefSeq, Feb 2011].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
ATPase H+ transporting V1 subunit G2 | MIM:606853 | Ensembl:ENSG00000213760 | HGNC:HGNC:862 | PA25164 | 6p21.33 |
Gene Categories:
TRANSPORTERGO terms in ATP6V1G2
Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
MF | IEA | GO:0042626 | ATPase activity, coupled to transmembrane movement of substances |
BP | TAS | GO:0008286 | insulin receptor signaling pathway |
BP | NAS | GO:0016241 | regulation of macroautophagy |
BP | TAS | GO:0033572 | transferrin transport |
BP | TAS | GO:0034220 | ion transmembrane transport |
BP | IEA | GO:1902600 | proton transmembrane transport |
CC | TAS | GO:0005829 | cytosol |
CC | IEA | GO:0016471 | vacuolar proton-transporting V-type ATPase complex |
CC | IEA | GO:0042470 | melanosome |
Gene expression in normal tissue: ATP6V1G2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ATP6V1G2
Database | Pathway ID | Pathway Des. |
---|---|---|
kegg | hsa00190 | Oxidative phosphorylation - Homo sapiens (human) |
kegg | hsa04145 | Phagosome - Homo sapiens (human) |
kegg | hsa04150 | mTOR signaling pathway - Homo sapiens (human) |
kegg | hsa04721 | Synaptic vesicle cycle - Homo sapiens (human) |
kegg | hsa04966 | Collecting duct acid secretion - Homo sapiens (human) |
kegg | hsa05110 | Vibrio cholerae infection - Homo sapiens (human) |
kegg | hsa05120 | Epithelial cell signaling in Helicobacter pylori infection - Homo sapiens (human) |
kegg | hsa05323 | Rheumatoid arthritis - Homo sapiens (human) |
reactome | R-HSA-1222556 | ROS, RNS production in phagocytes |
reactome | R-HSA-162582 | Signal Transduction |
reactome | R-HSA-168249 | Innate Immune System |
reactome | R-HSA-168256 | Immune System |
reactome | R-HSA-382551 | Transport of small molecules |
reactome | R-HSA-74752 | Signaling by Insulin receptor |
reactome | R-HSA-77387 | Insulin receptor recycling |
reactome | R-HSA-9006934 | Signaling by Receptor Tyrosine Kinases |
reactome | R-HSA-917937 | Iron uptake and transport |
reactome | R-HSA-917977 | Transferrin endocytosis and recycling |
reactome | R-HSA-983712 | Ion channel transport |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
---|---|---|
iGMDRD399 | Selumetinib | 3 |
iGMDRD409 | Saracatinib | 1 |
iGMDRD309 | 17AAG | 1 |
iGMDRD353 | PD0325901 | 2 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ATP6V1G2