Human Gene ATP6V0E2 (uc003wgo.1)
  Description: Homo sapiens ATPase, H+ transporting V0 subunit e2 (ATP6V0E2), transcript variant 2, mRNA.
RefSeq Summary (NM_001100592): Multisubunit vacuolar-type proton pumps, or H(+)-ATPases, acidify various intracellular compartments, such as vacuoles, clathrin-coated and synaptic vesicles, endosomes, lysosomes, and chromaffin granules. H(+)-ATPases are also found in plasma membranes of specialized cells, where they play roles in urinary acidification, bone resorption, and sperm maturation. Multiple subunits form H(+)-ATPases, with proteins of the V1 class hydrolyzing ATP for energy to transport H+, and proteins of the V0 class forming an integral membrane domain through which H+ is transported. ATP6V0E2 encodes an isoform of the H(+)-ATPase V0 e subunit, an essential proton pump component (Blake-Palmer et al., 2007 [PubMed 17350184]).[supplied by OMIM, Mar 2008].
Transcript (Including UTRs)
   Position: hg19 chr7:149,570,057-149,575,686 Size: 5,630 Total Exon Count: 3 Strand: +


Page IndexSequence and LinksPrimersGenetic AssociationsCTDRNA-Seq Expression
Microarray ExpressionOther SpeciesmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:149,570,057-149,575,686)mRNA (may differ from genome)No protein
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSEnsemblExonPrimerGeneNetworkH-INVHGNC
LynxPubMed

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
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To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ATP6V0E2
CDC HuGE Published Literature: ATP6V0E2
Positive Disease Associations: Blood Pressure
Related Studies:
  1. Blood Pressure
    , , . [PubMed 0]

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 146.50 RPKM in Brain - Cerebellum
Total median expression: 1616.95 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Descriptions from all associated GenBank mRNAs
  AK057700 - Homo sapiens cDNA FLJ33138 fis, clone UTERU1000096, weakly similar to VACUOLAR ATP SYNTHASE SUBUNIT H (EC 3.6.1.34).
AF452639 - Homo sapiens tissue-type placenta hypothetical protein mRNA, complete cds.
JD200517 - Sequence 181541 from Patent EP1572962.
JD210408 - Sequence 191432 from Patent EP1572962.
JD128868 - Sequence 109892 from Patent EP1572962.
DQ989009 - Homo sapiens H+-ATPase e2 subunit (ATP6V0E2) mRNA, complete cds.
JD462703 - Sequence 443727 from Patent EP1572962.
JD478377 - Sequence 459401 from Patent EP1572962.
LF207125 - JP 2014500723-A/14628: Polycomb-Associated Non-Coding RNAs.
BX640846 - Homo sapiens mRNA; cDNA DKFZp686N23273 (from clone DKFZp686N23273); complete cds.
AK290086 - Homo sapiens cDNA FLJ77720 complete cds.
AK094602 - Homo sapiens cDNA FLJ37283 fis, clone BRAMY2013414, moderately similar to ATPase, H+ transporting, lysosomal (vacuolar proton pump) 9kD.
AK098362 - Homo sapiens cDNA FLJ25496 fis, clone CBR01585.
DQ995344 - Homo sapiens V-ATPase e2 subunit splice variant (ATP6V0E2) mRNA, partial cds, alternatively spliced.
AK172725 - Homo sapiens cDNA PSEC0018 fis, clone: NT2RP1000042, moderately similar to VACUOLAR ATP SYNTHASE SUBUNIT H (EC 3.6.1.34).
LF362214 - JP 2014500723-A/169717: Polycomb-Associated Non-Coding RNAs.
AY037164 - Homo sapiens vacuolar proton-ATPase subunit mRNA, complete cds.
MA442702 - JP 2018138019-A/14628: Polycomb-Associated Non-Coding RNAs.
MA597791 - JP 2018138019-A/169717: Polycomb-Associated Non-Coding RNAs.

-  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: AK094602
UCSC ID: uc003wgo.1
RefSeq Accession: NM_001100592

-  Gene Model Information
 
category: nearCoding nonsense-mediated-decay: no RNA accession: AK094602.1
exon count: 3CDS single in 3' UTR: no RNA size: 1884
ORF size: 0CDS single in intron: no Alignment % ID: 99.63
txCdsPredict score: 599.50frame shift in genome: no % Coverage: 21.97
has start codon: no stop codon in genome: no # of Alignments: 1
has end codon: no retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.