Human Gene ATP6V0E2 (uc003wgs.3)
  Description: Homo sapiens ATPase, H+ transporting V0 subunit e2 (ATP6V0E2), transcript variant 1, 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 chr7:149,570,057-149,577,787 Size: 7,731 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg19 chr7:149,571,008-149,576,766 Size: 5,759 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:149,570,057-149,577,787)mRNA (may differ from genome)Protein (213 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
OMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: E9PAS2_HUMAN
DESCRIPTION: SubName: Full=V-type proton ATPase subunit e 2;
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  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.
Click here to open Exonprimer with this transcript

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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  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.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -430.50951-0.453 Picture PostScript Text
3' UTR -418.141021-0.410 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
IPR008389 - ATPase_V0-cplx_esu

Pfam Domains:
PF05493 - ATP synthase subunit H

ModBase Predicted Comparative 3D Structure on E9PAS2
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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
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0015078 hydrogen ion transmembrane transporter activity

Biological Process:
GO:0015991 ATP hydrolysis coupled proton transport

Cellular Component:
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0033179 proton-transporting V-type ATPase, V0 domain


-  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.
BC015899 - Homo sapiens ATPase, H+ transporting V0 subunit e2, mRNA (cDNA clone IMAGE:3908757).
JD020590 - Sequence 1614 from Patent EP1572962.
JD020619 - Sequence 1643 from Patent EP1572962.
JD028419 - Sequence 9443 from Patent EP1572962.
JD033303 - Sequence 14327 from Patent EP1572962.
CU677495 - Synthetic construct Homo sapiens gateway clone IMAGE:100016642 5' read ATP6V0E2 mRNA.
KJ903904 - Synthetic construct Homo sapiens clone ccsbBroadEn_13298 ATP6V0E2 gene, encodes complete protein.
JD231090 - Sequence 212114 from Patent EP1572962.
JD271695 - Sequence 252719 from Patent EP1572962.
JD530246 - Sequence 511270 from Patent EP1572962.
JD090252 - Sequence 71276 from Patent EP1572962.
JD391567 - Sequence 372591 from Patent EP1572962.
LF362216 - JP 2014500723-A/169719: Polycomb-Associated Non-Coding RNAs.
JD495383 - Sequence 476407 from Patent EP1572962.
JD133047 - Sequence 114071 from Patent EP1572962.
JD105531 - Sequence 86555 from Patent EP1572962.
JD279480 - Sequence 260504 from Patent EP1572962.
JD121966 - Sequence 102990 from Patent EP1572962.
JD159776 - Sequence 140800 from Patent EP1572962.
JD068260 - Sequence 49284 from Patent EP1572962.
JD275949 - Sequence 256973 from Patent EP1572962.
JD122903 - Sequence 103927 from Patent EP1572962.
JD091753 - Sequence 72777 from Patent EP1572962.
JD438560 - Sequence 419584 from Patent EP1572962.
JD411188 - Sequence 392212 from Patent EP1572962.
JD398295 - Sequence 379319 from Patent EP1572962.
MA442702 - JP 2018138019-A/14628: Polycomb-Associated Non-Coding RNAs.
MA597791 - JP 2018138019-A/169717: Polycomb-Associated Non-Coding RNAs.
MA597793 - JP 2018138019-A/169719: 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: E9PAS2, E9PAS2_HUMAN, NM_001100592, NP_001094062
UCSC ID: uc003wgs.3
RefSeq Accession: NM_001100592
Protein: E9PAS2 CCDS: CCDS47742.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001100592.1
exon count: 3CDS single in 3' UTR: no RNA size: 2565
ORF size: 642CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1075.50frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes 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.