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Aliases for ATP6V0E2 Gene

Aliases for ATP6V0E2 Gene

  • ATPase H+ Transporting V0 Subunit E2 2 3 5
  • 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
  • ATPase, H+ Transporting V0 Subunit E Isoform 2-Like 3
  • ATPase, H+ Transporting V0 Subunit E2 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 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 Innate Immune System and Rheumatoid arthritis. Gene Ontology (GO) annotations related to this gene include hydrogen ion transmembrane transporter activity and ATPase coupled ion transmembrane transporter activity. 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.

Additional gene information for ATP6V0E2 Gene

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

Genomics for ATP6V0E2 Gene

GeneHancer (GH) Regulatory Elements for ATP6V0E2 Gene

Promoters and enhancers for ATP6V0E2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07I149872 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 582.9 +0.5 499 2.3 HDGF PKNOX1 SMAD1 FOXA2 ARNT ZFP64 ARID4B SIN3A ZNF2 YY1 ATP6V0E2 ZNF783 ZNF767P ENSG00000271664 ZNF775 LOC155060 ZNF282 ZNF862 ZNF786 ZNF398
GH07I149874 Enhancer 0.7 ENCODE 550.8 +1.8 1839 0.2 SOX13 FOXA2 TAF1 ARID4B MAX DMAP1 ZNF644 KMT2B RAD21 YY1 ATP6V0E2 ATP6V0E2-AS1
GH07I149863 Enhancer 1.1 Ensembl ENCODE dbSUPER 34.1 -5.1 -5070 8.1 MEIS2 CTCF PKNOX1 ZNF133 EBF1 BATF ZIC2 ZNF335 PRDM10 IKZF2 ATP6V0E2 ATP6V0E2-AS1 ZNF862 SSPO ENSG00000273011 PIR59309
GH07I149883 Enhancer 1.1 Ensembl ENCODE 32.5 +11.7 11726 3.4 FOXA2 RB1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 RAD21 ETS1 YY1 ATP6V0E2 ATP6V0E2-AS1 SSPO ZNF862 ENSG00000273011 PIR51338
GH07I149854 Enhancer 1.2 Ensembl ENCODE 9 -17.7 -17673 2.1 SIN3A FEZF1 ZNF766 GLIS2 FOS ATF7 ZNF214 ZNF263 RXRA REST SSPO ATP6V0E2 ENSG00000280149 ENSG00000273419 ZNF862
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ATP6V0E2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ATP6V0E2 gene promoter:

Genomic Locations for ATP6V0E2 Gene

Genomic Locations for ATP6V0E2 Gene
chr7:149,872,968-149,880,713
(GRCh38/hg38)
Size:
7,746 bases
Orientation:
Plus strand
chr7:149,570,057-149,577,787
(GRCh37/hg19)

Genomic View for ATP6V0E2 Gene

Genes around ATP6V0E2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP6V0E2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

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

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted membrane proteins

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.

Phenotypes From GWAS Catalog for ATP6V0E2 Gene

Gene Ontology (GO) - Molecular Function for ATP6V0E2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015078 hydrogen ion transmembrane transporter activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0042625 ATPase coupled ion transmembrane transporter activity ISS --
GO:0046961 proton-transporting ATPase activity, rotational mechanism IGI,IBA 17350184
genes like me logo Genes that share ontologies with ATP6V0E2: view
genes like me logo Genes that share phenotypes with ATP6V0E2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
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 IEA,IBA --
GO:0016021 integral component of membrane NAS,IEA 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ATP6V0E2 Gene

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:0006811 ion transport IEA --
GO:0007035 vacuolar acidification ISS --
GO:0008286 insulin receptor signaling pathway TAS --
GO:0015991 ATP hydrolysis coupled proton transport IEA --
GO:0015992 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

(8) Drugs for ATP6V0E2 Gene - From: ApexBio, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Esomeprazole Approved, Investigational Pharma Proton pump inhibitor 350
Water Approved Pharma 0
Bafilomycin A1 Experimental Pharma V-ATPase inhibitor,selective and reversible, H+-ATPase (vacuolar) inhibitor 0
ATP Investigational Nutra Agonist 0
Concanamycin A Pharma V-type (vacuolar) H+-ATPase inhibitor, H+-ATPase (vacuolar) inhibitor 0

(3) Additional Compounds for ATP6V0E2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2

(2) 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

(5) ApexBio Compounds for ATP6V0E2 Gene

Compound Action Cas Number
Bafilomycin A1 V-ATPase inhibitor,selective and reversible 88899-55-2
Concanamycin A V-type (vacuolar) H+-ATPase inhibitor 80890-47-7
Esomeprazole Magnesium Proton pump inhibitor 161973-10-0
Esomeprazole Sodium Proton pump inhibitor 161796-78-7
Zinc Pyrithione 13463-41-7
genes like me logo Genes that share compounds with ATP6V0E2: view

Drug Products

Transcripts for ATP6V0E2 Gene

Unigene Clusters for ATP6V0E2 Gene

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

CRISPR Products

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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).

NURSA nuclear receptor signaling pathways regulating expression of ATP6V0E2 Gene:

ATP6V0E2

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.

Evidence on tissue expression from TISSUES for ATP6V0E2 Gene

  • Nervous system(5)
genes like me logo Genes that share expression patterns with ATP6V0E2: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia ATP6V0E2 33 34
  • 99.49 (n)
cow
(Bos Taurus)
Mammalia ATP6V0E2 33 34
  • 93.42 (n)
dog
(Canis familiaris)
Mammalia ATP6V0E2 33 34
  • 93.26 (n)
mouse
(Mus musculus)
Mammalia Atp6v0e2 33 16 34
  • 90.53 (n)
rat
(Rattus norvegicus)
Mammalia Atp6v0e2 33
  • 90.53 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ATP6V0E2 34
  • 44 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATP6V0E2 33 34
  • 86.01 (n)
lizard
(Anolis carolinensis)
Reptilia ATP6V0E2 34
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp6v0e2 33
  • 78.6 (n)
Str.15625 33
zebrafish
(Danio rerio)
Actinopterygii atpv0e2 33 34
  • 68.72 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10061 33
fruit fly
(Drosophila melanogaster)
Insecta VhaM9.7-a 34
  • 35 (a)
ManyToMany
VhaM9.7-b 34
  • 27 (a)
ManyToMany
VhaM9.7-c 34
  • 25 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea vha-17 34
  • 31 (a)
OneToMany
Species where no ortholog for ATP6V0E2 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1000094367 -- 149,873,555(+) C/T 5_prime_UTR_variant, non_coding_transcript_variant
rs1000155146 -- 149,874,503(+) A/C intron_variant
rs1000333868 -- 149,878,775(+) G/A/C 3_prime_UTR_variant, intron_variant, non_coding_transcript_variant
rs1001914392 -- 149,876,712(+) A/T intron_variant
rs1001945750 -- 149,874,473(+) T/C intron_variant

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

Variant ID Type Subtype PubMed ID
dgv11717n54 CNV gain 21841781
dgv6751n100 CNV gain 25217958
dgv6752n100 CNV gain 25217958
dgv845n27 CNV gain 19166990
esv1009171 CNV deletion 20482838
esv2386076 CNV deletion 18987734
esv2674829 CNV deletion 23128226
esv2735338 CNV deletion 23290073
esv2735340 CNV deletion 23290073
esv2759571 CNV gain 17122850
esv3349686 CNV insertion 20981092
esv3542637 CNV deletion 23714750
esv3576480 CNV gain 25503493
esv3615438 CNV gain 21293372
esv3615439 CNV gain 21293372
esv3891234 CNV gain 25118596
esv4455 CNV loss 18987735
nsv1029484 CNV gain 25217958
nsv1033095 CNV gain 25217958
nsv1074559 CNV deletion 25765185
nsv1115026 CNV deletion 24896259
nsv1161666 CNV duplication 26073780
nsv471647 CNV gain 15918152
nsv519323 CNV loss 19592680
nsv521861 CNV loss 19592680
nsv8229 CNV gain+loss 18304495
nsv831184 CNV gain 17160897
nsv831185 CNV gain 17160897
nsv957075 CNV deletion 24416366

Variation tolerance for ATP6V0E2 Gene

Residual Variation Intolerance Score: 74.6% 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)

Additional Variant Information for ATP6V0E2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP6V0E2

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

Disorders for ATP6V0E2 Gene

Additional Disease Information for ATP6V0E2

No disorders were found for ATP6V0E2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas 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 KG … Karet FE (Gene 2007) 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 58
  4. Lipofuscin is formed independently of macroautophagy and lysosomal activity in stress-induced prematurely senescent human fibroblasts. (PMID: 22982048) Höhn A … Grune T (Free radical biology & medicine 2012) 3 58
  5. Association of botulinum neurotoxins with synaptic vesicle protein complexes. (PMID: 19362106) Baldwin MR … Barbieri JT (Toxicon : official journal of the International Society on Toxinology 2009) 22 58

Products for ATP6V0E2 Gene

Sources for ATP6V0E2 Gene

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