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Aliases for ATP6V0E2 Gene

Aliases for ATP6V0E2 Gene

  • ATPase, H+ Transporting V0 Subunit E2 2 3
  • Lysosomal 9 KDa H(+)-Transporting ATPase V0 Subunit E2 3 4
  • Vacuolar Proton Pump Subunit E 2 3 4
  • V-ATPase Subunit E 2 3 4
  • ATP6V0E2L 3 4
  • C7orf32 3 4
  • ATPase, H+ Transporting V0 Subunit E Isoform 2-Like (Rat) 2
  • Chromosome 7 Open Reading Frame 32 2
  • Vacuolar Proton-ATPase Subunit 3
  • H+-ATPase E2 Subunit 3

External Ids for ATP6V0E2 Gene

Previous HGNC Symbols for ATP6V0E2 Gene

  • C7orf32
  • ATP6V0E2L

Previous GeneCards Identifiers for ATP6V0E2 Gene

  • GC07P149201
  • GC07P149570
  • GC07P143645

Summaries for ATP6V0E2 Gene

Entrez Gene Summary for ATP6V0E2 Gene

  • 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]

GeneCards Summary for ATP6V0E2 Gene

ATP6V0E2 (ATPase, H+ Transporting V0 Subunit E2) is a Protein Coding gene. Among its related pathways are Immune System and Signaling by GPCR. GO annotations related to this gene include hydrogen ion transmembrane transporter activity and ATPase activity, coupled to transmembrane movement of ions. An important paralog of this gene is ATP6V0E1.

UniProtKB/Swiss-Prot for ATP6V0E2 Gene

  • Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.

Tocris Summary for ATP6V0E2 Gene

  • H+-ATPase (also known as vacuolar ATPase, V-ATPase) is a enzyme transporter that functions to acidify intracellular compartments in eukaryotic cells. It is ubiquitously expressed and is present in endomembrane organelles such as vacuoles, lysosomes and endosomes.

No data available for Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP6V0E2 Gene

Genomics for ATP6V0E2 Gene

Regulatory Elements for ATP6V0E2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ATP6V0E2 Gene

Chromosome:
7
Start:
149,872,968 bp from pter
End:
149,880,713 bp from pter
Size:
7,746 bases
Orientation:
Plus strand

Genomic View for ATP6V0E2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ATP6V0E2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP6V0E2 Gene

Proteins for ATP6V0E2 Gene

  • Protein details for ATP6V0E2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NHE4-VA0E2_HUMAN
    Recommended name:
    V-type proton ATPase subunit e 2
    Protein Accession:
    Q8NHE4
    Secondary Accessions:
    • A2T863
    • A2T8L7
    • B5MDP5
    • J3KQW7
    • Q6MZW1
    • Q75L47
    • Q7Z4R7
    • Q8N7I8

    Protein attributes for ATP6V0E2 Gene

    Size:
    81 amino acids
    Molecular mass:
    9184 Da
    Quaternary structure:
    • Composed of at least 10 subunits
    SequenceCaution:
    • Sequence=AAP97693.1; Type=Frameshift; Positions=80, 108; Evidence={ECO:0000305}; Sequence=AAQ96859.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAC05292.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAE45916.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for ATP6V0E2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP6V0E2 Gene

Proteomics data for ATP6V0E2 Gene at MOPED

Post-translational modifications for ATP6V0E2 Gene

No Post-translational modifications

No data available for DME Specific Peptides for ATP6V0E2 Gene

Domains & Families for ATP6V0E2 Gene

Gene Families for ATP6V0E2 Gene

Protein Domains for ATP6V0E2 Gene

Suggested Antigen Peptide Sequences for ATP6V0E2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NHE4

UniProtKB/Swiss-Prot:

VA0E2_HUMAN :
  • Belongs to the V-ATPase e1/e2 subunit family.
Family:
  • Belongs to the V-ATPase e1/e2 subunit family.
genes like me logo Genes that share domains with ATP6V0E2: view

Function for ATP6V0E2 Gene

Molecular function for ATP6V0E2 Gene

UniProtKB/Swiss-Prot Function:
Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.

Gene Ontology (GO) - Molecular Function for ATP6V0E2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015078 hydrogen ion transmembrane transporter activity --
GO:0042625 ATPase activity, coupled to transmembrane movement of ions ISS --
GO:0046961 proton-transporting ATPase activity, rotational mechanism IBA --
genes like me logo Genes that share ontologies with ATP6V0E2: view

Phenotypes for ATP6V0E2 Gene

genes like me logo Genes that share phenotypes with ATP6V0E2: view

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ATP6V0E2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ATP6V0E2 Gene

Localization for ATP6V0E2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP6V0E2 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATP6V0E2 Gene COMPARTMENTS Subcellular localization image for ATP6V0E2 gene
Compartment Confidence
endosome 4
vacuole 3

Gene Ontology (GO) - Cellular Components for ATP6V0E2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010008 endosome membrane TAS --
GO:0016020 membrane IBA --
GO:0016021 integral component of membrane NAS 17350184
GO:0030670 phagocytic vesicle membrane TAS --
GO:0033179 proton-transporting V-type ATPase, V0 domain IEA --
genes like me logo Genes that share ontologies with ATP6V0E2: view

Pathways & Interactions for ATP6V0E2 Gene

genes like me logo Genes that share pathways with ATP6V0E2: view

Interacting Proteins for ATP6V0E2 Gene

Gene Ontology (GO) - Biological Process for ATP6V0E2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006879 cellular iron ion homeostasis TAS --
GO:0007035 vacuolar acidification ISS --
GO:0008152 metabolic process IEA --
GO:0008286 insulin receptor signaling pathway TAS --
GO:0015991 ATP hydrolysis coupled proton transport IEA --
genes like me logo Genes that share ontologies with ATP6V0E2: view

No data available for SIGNOR curated interactions for ATP6V0E2 Gene

Drugs & Compounds for ATP6V0E2 Gene

(2) Drugs for ATP6V0E2 Gene - From: HMDB, NovoSeek, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
Bafilomycin A1 Experimental Pharma H+-ATPase (vacuolar) inhibitor 0

(6) Additional Compounds for ATP6V0E2 Gene - From: HMDB, NovoSeek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Concanamycin A
80890-47-7
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Antagonist, Gating inhibitor 58-64-0
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
Enterostatin
117830-79-2
genes like me logo Genes that share compounds with ATP6V0E2: view

Transcripts for ATP6V0E2 Gene

Unigene Clusters for ATP6V0E2 Gene

ATPase, H+ transporting V0 subunit e2:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ATP6V0E2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATP6V0E2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c · 10d · 10e · 10f
SP1: - - - - - - -
SP2: - - - - - - -
SP3: - - - - - - -
SP4: - - - - - - - -
SP5: - - - -
SP6: - - - - - - - - -
SP7: - - - - - - -
SP8: - - - - - -
SP9: - - - - -
SP10: - - - - - - - - - -
SP11: - - - - -

Relevant External Links for ATP6V0E2 Gene

GeneLoc Exon Structure for
ATP6V0E2
ECgene alternative splicing isoforms for
ATP6V0E2

Expression for ATP6V0E2 Gene

mRNA expression in normal human tissues for ATP6V0E2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ATP6V0E2 Gene

This gene is overexpressed in Brain - Hippocampus (x4.1).

SOURCE GeneReport for Unigene cluster for ATP6V0E2 Gene Hs.556998

mRNA Expression by UniProt/SwissProt for ATP6V0E2 Gene

Q8NHE4-VA0E2_HUMAN
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.
genes like me logo Genes that share expression patterns with ATP6V0E2: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for ATP6V0E2 Gene

Orthologs for ATP6V0E2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ATP6V0E2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ATP6V0E2 35
  • 93.42 (n)
  • 97.53 (a)
ATP6V0E2 36
  • 69 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP6V0E2 35
  • 93.26 (n)
  • 92.55 (a)
ATP6V0E2 36
  • 52 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atp6v0e2 35
  • 90.53 (n)
  • 98.77 (a)
Atp6v0e2 16
Atp6v0e2 36
  • 70 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ATP6V0E2 35
  • 99.49 (n)
  • 98.46 (a)
ATP6V0E2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp6v0e2 35
  • 90.53 (n)
  • 98.77 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia ATP6V0E2 36
  • 44 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATP6V0E2 35
  • 86.01 (n)
  • 90.12 (a)
ATP6V0E2 36
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP6V0E2 36
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp6v0e2 35
  • 78.6 (n)
  • 88.89 (a)
Str.15625 35
zebrafish
(Danio rerio)
Actinopterygii atpv0e2 35
  • 68.72 (n)
  • 77.78 (a)
atpv0e2 36
  • 59 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10061 35
fruit fly
(Drosophila melanogaster)
Insecta VhaM9.7-a 36
  • 35 (a)
ManyToMany
VhaM9.7-b 36
  • 27 (a)
ManyToMany
VhaM9.7-c 36
  • 25 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea vha-17 36
  • 31 (a)
OneToMany
Species with no ortholog for ATP6V0E2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ATP6V0E2 Gene

ENSEMBL:
Gene Tree for ATP6V0E2 (if available)
TreeFam:
Gene Tree for ATP6V0E2 (if available)

Paralogs for ATP6V0E2 Gene

Paralogs for ATP6V0E2 Gene

(1) SIMAP similar genes for ATP6V0E2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with ATP6V0E2: view

Variants for ATP6V0E2 Gene

Sequence variations from dbSNP and Humsavar for ATP6V0E2 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs1133480 -- 149,880,502(+) GGAGA(A/C)TAGGA utr-variant-3-prime, nc-transcript-variant
rs4281039 -- 149,876,204(+) aactc(C/T)gtctc intron-variant
rs4281040 -- 149,876,251(+) cgtgc(C/T)tgtag intron-variant
rs4281041 -- 149,876,367(+) tgaga(A/C)tccga intron-variant
rs4419730 -- 149,876,418(+) cttgg(A/C/G)atagg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ATP6V0E2 Gene

Variant ID Type Subtype PubMed ID
nsv831184 CNV Gain 17160897
dgv2151e1 CNV Complex 17122850
nsv521861 CNV Loss 19592680
nsv889409 CNV Loss 21882294
dgv2152e1 CNV Complex 17122850
nsv889413 CNV Gain 21882294
dgv7531n71 CNV Gain 21882294
dgv7532n71 CNV Gain 21882294
dgv7533n71 CNV Gain 21882294
dgv7534n71 CNV Gain 21882294
nsv8229 CNV Gain+Loss 18304495
nsv519323 CNV Loss 19592680
dgv845n27 CNV Gain 19166990
nsv831185 CNV Gain 17160897
nsv471647 CNV Gain 15918152
esv2735338 CNV Deletion 23290073
esv2386076 CNV Deletion 18987734
esv4455 CNV Deletion 18987735
esv1009171 CNV Deletion 20482838
esv2674829 CNV Deletion 23128226
esv2735340 CNV Deletion 23290073

Variation tolerance for ATP6V0E2 Gene

Residual Variation Intolerance Score: 74.58% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.11; 69.19% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATP6V0E2 Gene

HapMap Linkage Disequilibrium report
ATP6V0E2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP6V0E2 Gene

Disorders for ATP6V0E2 Gene

Relevant External Links for ATP6V0E2

Genetic Association Database (GAD)
ATP6V0E2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP6V0E2
genes like me logo Genes that share disorders with ATP6V0E2: view

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ATP6V0E2 Gene

Publications for ATP6V0E2 Gene

  1. Francisella tularensis phagosomal escape does not require acidification of the phagosome. (PMID: 19237528) Clemens D.L. … Horwitz M.A. (Infect. Immun. 2009) 23 67
  2. Association of botulinum neurotoxins with synaptic vesicle protein complexes. (PMID: 19362106) Baldwin M.R. … Barbieri J.T. (Toxicon 2009) 23 67
  3. Acidocalcisomes in Apicomplexan parasites. (PMID: 17761167) Miranda K. … Moreno S.N. (Exp. Parasitol. 2008) 23 67
  4. Acquisition of the vacuolar ATPase proton pump and phagosome acidification are essential for escape of Francisella tularensis into the macrophage cytosol. (PMID: 18390995) Santic M. … Abu Kwaik Y. (Infect. Immun. 2008) 23 67
  5. Neurotransmitter depletion by bafilomycin is promoted by vesicle turnover. (PMID: 17123716) Cavelier P. … Attwell D. (Neurosci. Lett. 2007) 23 67

Products for ATP6V0E2 Gene

Sources for ATP6V0E2 Gene

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