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Human Gene ATP6V0E2 (ENST00000421974.7) from GENCODE V49
  Description: ATPase H+ transporting V0 subunit e2, transcript variant 9 (from RefSeq NM_001367793.1)
Gencode Transcript: ENST00000421974.7
Gencode Gene: ENSG00000171130.20
Transcript (Including UTRs)
   Position: hg38 chr7:149,872,968-149,880,689 Size: 7,722 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg38 chr7:149,874,066-149,879,677 Size: 5,612 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathways
Other NamesMethods
Data last updated at UCSC: 2025-09-17 13:57:07

-  Comments and Description Text from UniProtKB
  ID: VA0E2_HUMAN
DESCRIPTION: RecName: Full=V-type proton ATPase subunit e 2; Short=V-ATPase subunit e 2; AltName: Full=Lysosomal 9 kDa H(+)-transporting ATPase V0 subunit e2; AltName: Full=Vacuolar proton pump subunit e 2;
FUNCTION: Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells (By similarity).
SUBUNIT: Composed of at least 10 subunits.
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential).
TISSUE SPECIFICITY: Isoform 1 is expressed at high levels in heart, brain and kidney and also detected in inner ear epithelium, vestibule, testis, epididymis and bladder. Isoform 2 is expressed in heart, kidney, placenta and pancreas. Isoform 2 is not detected in frontal cortex, but is prevalent in all other brain areas.
SIMILARITY: Belongs to the V-ATPase e1/e2 subunit family.
SEQUENCE CAUTION: Sequence=AAQ96859.1; Type=Erroneous gene model prediction; Sequence=BAC05292.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAE45916.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

-  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


-  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

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -493.301098-0.449 Picture PostScript Text
3' UTR -401.601012-0.397 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
IPR017385 - ATPase_V0-cplx_esu_met

Pfam Domains:
PF05493 - ATP synthase subunit H

ModBase Predicted Comparative 3D Structure on Q8NHE4
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 Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0015078 hydrogen ion transmembrane transporter activity
GO:0016787 hydrolase activity
GO:0042625 ATPase coupled ion transmembrane transporter activity
GO:0046961 proton-transporting ATPase activity, rotational mechanism

Biological Process:
GO:0006811 ion transport
GO:0007035 vacuolar acidification
GO:0008286 insulin receptor signaling pathway
GO:0015991 ATP hydrolysis coupled proton transport
GO:0016241 regulation of macroautophagy
GO:0033572 transferrin transport
GO:0034220 ion transmembrane transport
GO:1902600 hydrogen ion transmembrane transport

Cellular Component:
GO:0010008 endosome membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030670 phagocytic vesicle 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.
MA442702 - JP 2018138019-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.
MA597791 - JP 2018138019-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.
MA597793 - JP 2018138019-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.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8NHE4 (Reactome details) participates in the following event(s):

R-HSA-5252133 ATP6AP1 binds V-ATPase
R-HSA-1222516 Intraphagosomal pH is lowered to 5 by V-ATPase
R-HSA-74723 Endosome acidification
R-HSA-917841 Acidification of Tf:TfR1 containing endosome
R-HSA-77387 Insulin receptor recycling
R-HSA-917977 Transferrin endocytosis and recycling
R-HSA-983712 Ion channel transport
R-HSA-74752 Signaling by Insulin receptor
R-HSA-917937 Iron uptake and transport
R-HSA-382551 Transport of small molecules
R-HSA-1222556 ROS, RNS production in phagocytes
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-168249 Innate Immune System
R-HSA-162582 Signal Transduction
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: A2T863, A2T8L7, ATP6V0E2L, B5MDP5, C7orf32, ENST00000421974.1, ENST00000421974.2, ENST00000421974.3, ENST00000421974.4, ENST00000421974.5, ENST00000421974.6, J3KQW7, NM_001367793, Q6MZW1, Q75L47, Q7Z4R7, Q8N7I8, Q8NHE4, uc064jbm.1, uc064jbm.2, VA0E2_HUMAN
UCSC ID: ENST00000421974.7
RefSeq Accession: NM_001367791.1
Protein: Q8NHE4 (aka VA0E2_HUMAN)

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