Format

Send to:

Choose Destination

ATP6V0E2 ATPase H+ transporting V0 subunit e2 [ Homo sapiens (human) ]

Gene ID: 155066, updated on 15-Jun-2019

Summary

Official Symbol
ATP6V0E2provided by HGNC
Official Full Name
ATPase H+ transporting V0 subunit e2provided by HGNC
Primary source
HGNC:HGNC:21723
See related
Ensembl:ENSG00000171130 MIM:611019
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C7orf32; ATP6V0E2L
Summary
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]
Expression
Broad expression in brain (RPKM 57.2), kidney (RPKM 22.7) and 14 other tissues See more
Orthologs

Genomic context

See ATP6V0E2 in Genome Data Viewer
Location:
7q36.1
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (149872968..149880713)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (149570053..149577787)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene zinc finger protein 467 Neighboring gene SCO-spondin Neighboring gene ATP6V0E2 antisense RNA 1 Neighboring gene zinc finger protein 862 Neighboring gene actin related protein 3C Neighboring gene putative uncharacterized protein FLJ45355 Neighboring gene uncharacterized LOC100134040

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Pathways from BioSystems

  • Collecting duct acid secretion, organism-specific biosystem (from KEGG)
    Collecting duct acid secretion, organism-specific biosystemOne of the important roles of the collecting duct segment of the kidney nephron is acid secretion. As daily food intake loads acid into the body, urinary acid excretion is essential, and urine pH can...
  • Collecting duct acid secretion, conserved biosystem (from KEGG)
    Collecting duct acid secretion, conserved biosystemOne of the important roles of the collecting duct segment of the kidney nephron is acid secretion. As daily food intake loads acid into the body, urinary acid excretion is essential, and urine pH can...
  • Epithelial cell signaling in Helicobacter pylori infection, organism-specific biosystem (from KEGG)
    Epithelial cell signaling in Helicobacter pylori infection, organism-specific biosystemTwo major virulence factors of H. pylori are the vacuolating cytotoxin (VacA) and the cag type-IV secretion system (T4SS) and its translocated effector protein, cytotoxin-associated antigen A (CagA)....
  • Epithelial cell signaling in Helicobacter pylori infection, conserved biosystem (from KEGG)
    Epithelial cell signaling in Helicobacter pylori infection, conserved biosystemTwo major virulence factors of H. pylori are the vacuolating cytotoxin (VacA) and the cag type-IV secretion system (T4SS) and its translocated effector protein, cytotoxin-associated antigen A (CagA)....
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Insulin receptor recycling, organism-specific biosystem (from REACTOME)
    Insulin receptor recycling, organism-specific biosystemTriggered by acidification of the endosome, insulin dissociates from the receptor and is degraded. The receptor is dephosphorylated and re-integrated into the plasma membrane, ready to be activated a...
  • Ion channel transport, organism-specific biosystem (from REACTOME)
    Ion channel transport, organism-specific biosystemIon channels mediate the flow of ions across the plasma membrane of cells. They are integral membrane proteins, typically a multimer of proteins, which, when arranged in the membrane, create a pore f...
  • Iron uptake and transport, organism-specific biosystem (from REACTOME)
    Iron uptake and transport, organism-specific biosystemThe transport of iron between cells is mediated by transferrin. However, iron can also enter and leave cells not only by itself, but also in the form of heme and siderophores. When entering the cell ...
  • Metabolic pathways, organism-specific biosystem (from KEGG)
    Metabolic pathways, organism-specific biosystem
    Metabolic pathways
  • Oxidative phosphorylation, organism-specific biosystem (from KEGG)
    Oxidative phosphorylation, organism-specific biosystem
    Oxidative phosphorylation
  • Oxidative phosphorylation, conserved biosystem (from KEGG)
    Oxidative phosphorylation, conserved biosystem
    Oxidative phosphorylation
  • Phagosome, organism-specific biosystem (from KEGG)
    Phagosome, organism-specific biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
  • Phagosome, conserved biosystem (from KEGG)
    Phagosome, conserved biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
  • ROS, RNS production in phagocytes, organism-specific biosystem (from REACTOME)
    ROS, RNS production in phagocytes, organism-specific biosystemThe first line of defense against infectious agents involves an active recruitment of phagocytes to the site of infection. Recruited cells include polymorhonuclear (PMN) leukocytes (i.e., neutrophils...
  • Rheumatoid arthritis, organism-specific biosystem (from KEGG)
    Rheumatoid arthritis, organism-specific biosystemRheumatoid arthritis (RA) is a chronic autoimmune joint disease where persistent inflammation affects bone remodeling leading to progressive bone destruction. In RA, abnormal activation of the immune...
  • Rheumatoid arthritis, conserved biosystem (from KEGG)
    Rheumatoid arthritis, conserved biosystemRheumatoid arthritis (RA) is a chronic autoimmune joint disease where persistent inflammation affects bone remodeling leading to progressive bone destruction. In RA, abnormal activation of the immune...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Insulin receptor, organism-specific biosystem (from REACTOME)
    Signaling by Insulin receptor, organism-specific biosystemInsulin binding to its receptor results in receptor autophosphorylation on tyrosine residues and the tyrosine phosphorylation of insulin receptor substrates (e.g. IRS and Shc) by the insulin receptor...
  • Synaptic vesicle cycle, organism-specific biosystem (from KEGG)
    Synaptic vesicle cycle, organism-specific biosystemCommunication between neurons is mediated by the release of neurotransmitter from synaptic vesicles (SVs). At the nerve terminal, SVs cycle through repetitive episodes of exocytosis and endocytosis. ...
  • Synaptic vesicle cycle, conserved biosystem (from KEGG)
    Synaptic vesicle cycle, conserved biosystemCommunication between neurons is mediated by the release of neurotransmitter from synaptic vesicles (SVs). At the nerve terminal, SVs cycle through repetitive episodes of exocytosis and endocytosis. ...
  • Transferrin endocytosis and recycling, organism-specific biosystem (from REACTOME)
    Transferrin endocytosis and recycling, organism-specific biosystemEndocytosis of iron loaded transferrin/receptor complex leads, after acidification of the endosome, to the separation of iron and its diffusion out of the vesicle. The endosome is not fused with a ly...
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules
  • V-type ATPase, eukaryotes, organism-specific biosystem (from KEGG)
    V-type ATPase, eukaryotes, organism-specific biosystemStructural complex; Energy metabolism; ATP synthesis
  • V-type ATPase, eukaryotes, conserved biosystem (from KEGG)
    V-type ATPase, eukaryotes, conserved biosystemStructural complex; Energy metabolism; ATP synthesis
  • Vibrio cholerae infection, organism-specific biosystem (from KEGG)
    Vibrio cholerae infection, organism-specific biosystemCholera toxin (CTX) is one of the main virulence factors of Vibrio cholerae. Once secreted, CTX B-chain (CTXB) binds to ganglioside GM1 on the surface of the host's cells. After binding takes place, ...
  • Vibrio cholerae infection, conserved biosystem (from KEGG)
    Vibrio cholerae infection, conserved biosystemCholera toxin (CTX) is one of the main virulence factors of Vibrio cholerae. Once secreted, CTX B-chain (CTXB) binds to ganglioside GM1 on the surface of the host's cells. After binding takes place, ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATPase coupled ion transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
proton-transporting ATPase activity, rotational mechanism IGI
Inferred from Genetic Interaction
more info
PubMed 
Process Evidence Code Pubs
insulin receptor signaling pathway TAS
Traceable Author Statement
more info
 
ion transmembrane transport TAS
Traceable Author Statement
more info
 
phagosome acidification TAS
Traceable Author Statement
more info
 
proton transmembrane transport IGI
Inferred from Genetic Interaction
more info
PubMed 
regulation of macroautophagy NAS
Non-traceable Author Statement
more info
PubMed 
transferrin transport TAS
Traceable Author Statement
more info
 
transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
vacuolar acidification ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
endosome membrane TAS
Traceable Author Statement
more info
 
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
phagocytic vesicle membrane TAS
Traceable Author Statement
more info
 
proton-transporting V-type ATPase, V0 domain IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
V-type proton ATPase subunit e 2
Names
ATPase, H+ transporting V0 subunit E isoform 2-like
H+-ATPase e2 subunit
V-ATPase subunit e 2
lysosomal 9 kDa H(+)-transporting ATPase V0 subunit e2
vacuolar proton pump subunit e 2
vacuolar proton-ATPase subunit

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001100592.2NP_001094062.1  V-type proton ATPase subunit e 2 isoform 2

    See identical proteins and their annotated locations for NP_001094062.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate segment in the 3' coding region, compared to variant 1, that causes a frameshift. The resulting protein (isoform 2) has a longer and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AF452639, AK057700, BE677432
    Consensus CDS
    CCDS47742.1
    UniProtKB/Swiss-Prot
    Q8NHE4
    UniProtKB/TrEMBL
    E9PAS2
    Related
    ENSP00000411672.2, ENST00000421974.6
    Conserved Domains (1) summary
    pfam05493
    Location:58100
    ATP_synt_H; ATP synthase subunit H
  2. NM_001289990.1NP_001276919.1  V-type proton ATPase subunit e 2 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded protein (isoform 3) has a longer and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AK057700, AK098362, BE677432
    UniProtKB/Swiss-Prot
    Q8NHE4
    Conserved Domains (1) summary
    pfam05493
    Location:58116
    ATP_synt_H; ATP synthase subunit H
  3. NM_001367788.1NP_001354717.1  V-type proton ATPase subunit e 2 isoform 4 precursor

    Status: VALIDATED

    Source sequence(s)
    AC093458
  4. NM_001367789.1NP_001354718.1  V-type proton ATPase subunit e 2 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6), as well as variant 1, encodes isoform 1.
    Source sequence(s)
    AC093458
  5. NM_001367791.1NP_001354720.1  V-type proton ATPase subunit e 2 isoform 5

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7), as well as variants 8-13, encodes isoform 5.
    Source sequence(s)
    AC093458
  6. NM_001367792.1NP_001354721.1  V-type proton ATPase subunit e 2 isoform 5

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8), as well as variants 7 and 9-13, encodes isoform 5.
    Source sequence(s)
    AC093458
  7. NM_001367793.1NP_001354722.1  V-type proton ATPase subunit e 2 isoform 5

    Status: VALIDATED

    Description
    Transcript Variant: This variant (9), as well as variants 7, 8, and 10-13, encodes isoform 5.
    Source sequence(s)
    AC093458
  8. NM_001367794.1NP_001354723.1  V-type proton ATPase subunit e 2 isoform 5

    Status: VALIDATED

    Description
    Transcript Variant: This variant (10), as well as variants 7-9 and 11-13, encodes isoform 5.
    Source sequence(s)
    AC093458, HY134292
  9. NM_001367795.1NP_001354724.1  V-type proton ATPase subunit e 2 isoform 5

    Status: VALIDATED

    Description
    Transcript Variant: This variant (11), as well as variants 7-10, 12, and 13, encodes isoform 5.
    Source sequence(s)
    AC093458
  10. NM_001367796.1NP_001354725.1  V-type proton ATPase subunit e 2 isoform 5

    Status: VALIDATED

    Description
    Transcript Variant: This variant (12), as well as variants 7-11 and 13, encodes isoform 5.
    Source sequence(s)
    AC093458, BX488744
  11. NM_001367797.1NP_001354726.1  V-type proton ATPase subunit e 2 isoform 5

    Status: VALIDATED

    Description
    Transcript Variant: This variant (13), as well as variants 7-12, encodes isoform 5.
    Source sequence(s)
    AC093458, DA066294
  12. NM_145230.3NP_660265.2  V-type proton ATPase subunit e 2 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the predominantly occurring transcript and it encodes isoform 1. Variants 1 and 6 both encode the same isoform (1).
    Source sequence(s)
    AF452639, AK094602, BE677432, BX640846
    Consensus CDS
    CCDS55181.1
    UniProtKB/Swiss-Prot
    Q8NHE4
    Related
    ENSP00000481176.1, ENST00000615196.4
    Conserved Domains (1) summary
    pfam05493
    Location:58116
    ATP_synt_H; ATP synthase subunit H

RNA

  1. NR_110612.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) contains an alternate 3' exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK057700, AK094602, AK172725, BE677432

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    149872964..149880713
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center