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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
  • V-Type Proton ATPase Subunit E 2 3
  • Vacuolar Proton-ATPase Subunit 3
  • H+-ATPase E2 Subunit 3

External Ids for ATP6V0E2 Gene

Previous Symbols for ATP6V0E2 Gene

  • C7orf32
  • ATP6V0E2L

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. Diseases associated with ATP6V0E2 include osteopetrosis. Among its related pathways are Signaling by GPCR and Insulin receptor signalling cascade. 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, endosomes, the Golgi apparatus, chromaffin granules and coated vesicles, as well as in the plasma membrane. H+-ATPase is a multisubunit complex composed of two domains. The V1 domain is responsible for ATP hydrolysis and the V0 domain is responsible for protein translocation. There are two main mechanisms of regulating H+-ATPase activity; recycling of H+-ATPase-containing vesicles to and from the plasma membrane and glucose-sensitive assembly/disassembly of the holoenzyme complex. These transporters play an important role in processes such as receptor-mediated endocytosis, protein degradation and coupled transport. They have a function in bone reabsorption and mutations in the A3 gene cause recessive osteopetrosis. Furthermore, H+-ATPases have been implicated in tumor metastasis and regulation of sperm motility and maturation.

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

Genomics for ATP6V0E2 Gene

Genomic Location for ATP6V0E2 Gene

Start:
149,872,964 bp from pter
End:
149,880,698 bp from pter
Size:
7,735 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

Regulatory Elements 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 for ATP6V0E2 Gene

Gene Families for ATP6V0E2 Gene

HGNC:
  • VATP :ATPases / V-type
IUPHAR :

Protein Domains for ATP6V0E2 Gene

UniProtKB/Swiss-Prot:

VA0E2_HUMAN
Family:
  • Belongs to the V-ATPase e1/e2 subunit family.:
    • Q8NHE4
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

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

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting 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
plasma membrane 2

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 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

Compounds for ATP6V0E2 Gene

(3) Tocris Compounds for ATP6V0E2 Gene

Compound Action Cas Number
Bafilomycin A1 H+-ATPase (vacuolar) inhibitor [88899-55-2]
Concanamycin A H+-ATPase (vacuolar) inhibitor [80890-47-7]
Disulfiram Reversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities [97-77-8]

(4) HMDB Compounds for ATP6V0E2 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Phosphate
  • NFB Orthophosphate
14265-44-2
Water
  • Dihydrogen oxide
7732-18-5

(3) Novoseek inferred chemical compound relationships for ATP6V0E2 Gene

Compound -log(P) Hits PubMed IDs
bafilomycin a1 85.4 4
concanamycin a 83.8 2
hydrogen 50.6 15
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:

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 (4.1).

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 expressions with ATP6V0E2: view

Orthologs for ATP6V0E2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ATP6V0E2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATP6V0E2 36
  • 99.49 (n)
  • 98.46 (a)
ATP6V0E2 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ATP6V0E2 36
  • 93.42 (n)
  • 97.53 (a)
ATP6V0E2 37
  • 69 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP6V0E2 36
  • 93.26 (n)
  • 92.55 (a)
ATP6V0E2 37
  • 52 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atp6v0e2 36
  • 90.53 (n)
  • 98.77 (a)
Atp6v0e2 16
Atp6v0e2 37
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATP6V0E2 37
  • 44 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp6v0e2 36
  • 90.53 (n)
  • 98.77 (a)
chicken
(Gallus gallus)
Aves ATP6V0E2 36
  • 86.01 (n)
  • 90.12 (a)
ATP6V0E2 37
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP6V0E2 37
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp6v0e2 36
  • 78.6 (n)
  • 88.89 (a)
Str.15625 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10061 36
zebrafish
(Danio rerio)
Actinopterygii atpv0e2 36
  • 68.72 (n)
  • 77.78 (a)
atpv0e2 37
  • 59 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta VhaM9.7-a 37
  • 35 (a)
ManyToMany
VhaM9.7-b 37
  • 27 (a)
ManyToMany
VhaM9.7-c 37
  • 25 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea vha-17 37
  • 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

Selected 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

Relevant External Links for ATP6V0E2 Gene

HapMap Linkage Disequilibrium report
ATP6V0E2

Disorders for ATP6V0E2 Gene

(1) MalaCards Diseases for ATP6V0E2 Gene

Search for ATP6V0E2 Gene in MalaCards »

(2) Novoseek inferred disease relationships for ATP6V0E2 Gene

Disease -log(P) Hits PubMed IDs
virus infection 10.4 1
influenza 6.92 2

Relevant External Links for ATP6V0E2

Genetic Association Database (GAD)
ATP6V0E2
genes like me logo Genes that share disorders with ATP6V0E2: view

No data available for UniProtKB/Swiss-Prot for ATP6V0E2 Gene

Publications for ATP6V0E2 Gene

  1. Molecular cloning and characterization of a novel form of the human vacuolar H+-ATPase e-subunit: an essential proton pump component. (PMID: 17350184) Blake-Palmer K.G. … Karet F.E. (Gene 2007) 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PMID: 16303743) Otsuki T. … Isogai T. (DNA Res. 2005) 3
  4. Coupling of rotation and catalysis in F(1)-ATPase revealed by single-molecule imaging and manipulation. (PMID: 17662945) Adachi K. … Kinosita K. (Cell 2007) 3
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3

Products for ATP6V0E2 Gene

  • antibodies-online peptides for ATP6V0E2
  • antibodies-online antibodies for ATP6V0E2
  • antibodies-online kits for ATP6V0E2

Sources for ATP6V0E2 Gene

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