Human Gene ATP6V1G2 (uc011gxy.2) Description and Page Index
  Description: Homo sapiens ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2 (ATP6V1G2), transcript variant 1, mRNA.
RefSeq Summary (NM_130463): 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].
Transcript (Including UTRs)
   Position: chr6_mann_hap4:2,855,124-2,857,517 Size: 2,394 Total Exon Count: 3 Strand: -
Coding Region
   Position: chr6_mann_hap4:2,856,081-2,857,228 Size: 1,148 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDMicroarray
RNA StructureProtein StructureOther SpeciesmRNA DescriptionsPathwaysOther Names
Model InformationMethods
Data last updated: 2013-06-14

+  Sequence and Links to Tools and Databases
  Press "+" in the title bar above to open this section.

-  Comments and Description Text from UniProtKB
  ID: VATG2_HUMAN
DESCRIPTION: RecName: Full=V-type proton ATPase subunit G 2; Short=V-ATPase subunit G 2; AltName: Full=V-ATPase 13 kDa subunit 2; AltName: Full=Vacuolar proton pump subunit G 2;
FUNCTION: Catalytic subunit of the peripheral V1 complex of vacuolar ATPase (V-ATPase). V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.
SUBUNIT: V-ATPase is a heteromultimeric enzyme composed of a peripheral catalytic V1 complex (components A to H) attached to an integral membrane V0 proton pore complex (components: a, c, c', c'' and d) (By similarity).
INTERACTION: P36543:ATP6V1E1; NbExp=1; IntAct=EBI-348290, EBI-348639;
SUBCELLULAR LOCATION: Melanosome. Note=Highly enriched in late- stage melanosomes.
TISSUE SPECIFICITY: Brain.
SIMILARITY: Belongs to the V-ATPase G subunit family.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database: ATP6V1G2
CDC HuGE Published Literature: ATP6V1G2
Positive Disease Associations: Behcet Syndrome
Related Studies:
  1. Behcet Syndrome
    Elaine F Remmers et al. Nature genetics 2010, , Nature genetics. [PubMed 20622878]
  2. Behcet Syndrome
    Elaine F Remmers et al. Nature genetics 2010, , Nature genetics. [PubMed 20622878]
  3. Behcet Syndrome
    Elaine F Remmers et al. Nature genetics 2010, , Nature genetics. [PubMed 20622878]
           more ... click here to view the complete list

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  Microarray Expression Data
 
Expression ratio colors:

GNF Expression Atlas 2 Data from U133A and GNF1H Chips

      
      
      
     
    
     
Ratios
      
      
      
     
    
     
Absolute
      
       
      
      
     
    
Ratios
      
       
      
      
     
    
Absolute
   
     
     
Ratios
   
     
     
Absolute

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -105.10289-0.364 Picture PostScript Text
3' UTR -216.50957-0.226 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR005124 - V-ATPase_G

Pfam Domains:
PF03179 - Vacuolar (H+)-ATPase G subunit

ModBase Predicted Comparative 3D Structure on O95670
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
Jackson LabRGD    
Protein Sequence     
Alignment     

-  Descriptions from all associated GenBank mRNAs
  BC004350 - Homo sapiens cDNA clone IMAGE:3536103.
BC068023 - Homo sapiens ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2, mRNA (cDNA clone IMAGE:6193921), partial cds.
BC047791 - Homo sapiens ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2, mRNA (cDNA clone IMAGE:6470215).
BC119726 - Homo sapiens ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2, mRNA (cDNA clone MGC:149758 IMAGE:40118129), complete cds.
BC119727 - Homo sapiens ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2, mRNA (cDNA clone MGC:149759 IMAGE:40118130), complete cds.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00190 - Oxidative phosphorylation
hsa01100 - Metabolic pathways
hsa04966 - Collecting duct acid secretion
hsa05110 - Vibrio cholerae infection
hsa05120 - Epithelial cell signaling in Helicobacter pylori infection

-  Other Names for This Gene
  Alternate Gene Symbols: ATP6G, ATP6G2, NG38, NM_130463, NP_612139, O95670, Q2L6F8, VATG2_HUMAN
UCSC ID: uc011gxy.2
RefSeq Accession: NM_130463
Protein: O95670 (aka VATG2_HUMAN