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Aliases for ATP6V1E2 Gene

Aliases for ATP6V1E2 Gene

  • ATPase, H+ Transporting, Lysosomal 31kDa, V1 Subunit E2 2 3
  • Vacuolar Proton Pump Subunit E 2 3 4
  • V-ATPase Subunit E 2 3 4
  • ATP6V1EL2 3 4
  • ATP6EL2 3 4
  • ATP6E1 3 4
  • ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump) 31kD-Like 2 2
  • ATPase, H+ Transporting, Lysosomal 31kDa, V1 Subunit E Isoform 2 2
  • Vacuolar-Type Proton-Translocating ATPase Subunit E1 3
  • V-Type Proton ATPase Subunit E 2 3
  • VMA4 3

External Ids for ATP6V1E2 Gene

Previous HGNC Symbols for ATP6V1E2 Gene

  • ATP6EL2
  • ATP6V1EL2

Previous GeneCards Identifiers for ATP6V1E2 Gene

  • GC02M046756
  • GC02M046907
  • GC02M046713
  • GC02M046650
  • GC02M046592
  • GC02M046738
  • GC02M046717

Summaries for ATP6V1E2 Gene

GeneCards Summary for ATP6V1E2 Gene

ATP6V1E2 (ATPase, H+ Transporting, Lysosomal 31kDa, V1 Subunit E2) is a Protein Coding gene. Among its related pathways are Signaling by GPCR and Insulin receptor signalling cascade. GO annotations related to this gene include proton-transporting ATPase activity, rotational mechanism and hydrogen-exporting ATPase activity, phosphorylative mechanism. An important paralog of this gene is ATP6V1E1.

UniProtKB/Swiss-Prot for ATP6V1E2 Gene

  • Subunit of the peripheral V1 complex of vacuolar ATPase essential for assembly or catalytic function. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. This isoform is essential for energy coupling involved in acidification of acrosome (By similarity).

Tocris Summary for ATP6V1E2 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.

Gene Wiki entry for ATP6V1E2 Gene

No data available for Entrez Gene Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP6V1E2 Gene

Genomics for ATP6V1E2 Gene

Regulatory Elements for ATP6V1E2 Gene

Genomic Location for ATP6V1E2 Gene

Start:
46,490,750 bp from pter
End:
46,542,557 bp from pter
Size:
51,808 bases
Orientation:
Minus strand

Genomic View for ATP6V1E2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ATP6V1E2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP6V1E2 Gene

Proteins for ATP6V1E2 Gene

  • Protein details for ATP6V1E2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96A05-VATE2_HUMAN
    Recommended name:
    V-type proton ATPase subunit E 2
    Protein Accession:
    Q96A05
    Secondary Accessions:

    Protein attributes for ATP6V1E2 Gene

    Size:
    226 amino acids
    Molecular mass:
    26074 Da
    Quaternary structure:
    • V-ATPase is a heteromultimeric enzyme composed of a peripheral catalytic V1 complex (components A to H) attached to an integral membrane V0 proton pore complex (components: a, c, c, c and d)

neXtProt entry for ATP6V1E2 Gene

Proteomics data for ATP6V1E2 Gene at MOPED

Post-translational modifications for ATP6V1E2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ATP6V1E2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for ATP6V1E2 Gene

Domains for ATP6V1E2 Gene

Gene Families for ATP6V1E2 Gene

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

Protein Domains for ATP6V1E2 Gene

Suggested Antigen Peptide Sequences for ATP6V1E2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96A05

UniProtKB/Swiss-Prot:

VATE2_HUMAN :
  • Q96A05
Family:
  • Belongs to the V-ATPase E subunit family.
genes like me logo Genes that share domains with ATP6V1E2: view

Function for ATP6V1E2 Gene

Molecular function for ATP6V1E2 Gene

UniProtKB/Swiss-Prot Function: Subunit of the peripheral V1 complex of vacuolar ATPase essential for assembly or catalytic function. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. This isoform is essential for energy coupling involved in acidification of acrosome (By similarity).

Gene Ontology (GO) - Molecular Function for ATP6V1E2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21516116
GO:0008553 hydrogen-exporting ATPase activity, phosphorylative mechanism IEA --
GO:0046961 proton-transporting ATPase activity, rotational mechanism IEA --
genes like me logo Genes that share ontologies with ATP6V1E2: view

Animal Model Products

CRISPR Products

miRNA for ATP6V1E2 Gene

miRTarBase miRNAs that target ATP6V1E2

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ATP6V1E2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for ATP6V1E2 Gene

Localization for ATP6V1E2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATP6V1E2 Gene COMPARTMENTS Subcellular localization image for ATP6V1E2 gene
Compartment Confidence
cytosol 4
peroxisome 2
nucleus 1

Gene Ontology (GO) - Cellular Components for ATP6V1E2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle IEA --
GO:0005829 cytosol TAS --
GO:0033178 proton-transporting two-sector ATPase complex, catalytic domain IEA --
genes like me logo Genes that share ontologies with ATP6V1E2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ATP6V1E2 Gene

Pathways for ATP6V1E2 Gene

genes like me logo Genes that share pathways with ATP6V1E2: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for ATP6V1E2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006879 cellular iron ion homeostasis TAS --
GO:0008286 insulin receptor signaling pathway TAS --
GO:0015991 ATP hydrolysis coupled proton transport IEA --
GO:0033572 transferrin transport TAS --
GO:0034220 ion transmembrane transport TAS --
genes like me logo Genes that share ontologies with ATP6V1E2: view

Compounds for ATP6V1E2 Gene

(3) Tocris Compounds for ATP6V1E2 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 ATP6V1E2 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
genes like me logo Genes that share compounds with ATP6V1E2: view

Transcripts for ATP6V1E2 Gene

Unigene Clusters for ATP6V1E2 Gene

ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ATP6V1E2

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for ATP6V1E2
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATP6V1E2 Gene

No ASD Table

Relevant External Links for ATP6V1E2 Gene

GeneLoc Exon Structure for
ATP6V1E2
ECgene alternative splicing isoforms for
ATP6V1E2

Expression for ATP6V1E2 Gene

mRNA expression in normal human tissues for ATP6V1E2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ATP6V1E2 Gene

This gene is overexpressed in Testis (8.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for ATP6V1E2 Gene

SOURCE GeneReport for Unigene cluster for ATP6V1E2 Gene Hs.659656

mRNA Expression by UniProt/SwissProt for ATP6V1E2 Gene

Q96A05-VATE2_HUMAN
Tissue specificity: Testis specific.
genes like me logo Genes that share expressions with ATP6V1E2: view

In Situ Assay Products

Orthologs for ATP6V1E2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATP6V1E2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATP6V1E2 35
  • 99.26 (n)
  • 98.67 (a)
ATP6V1E2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ATP6V1E2 35
  • 87.76 (n)
  • 84.51 (a)
ATP6V1E2 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP6V1E2 35
  • 89.53 (n)
  • 88.5 (a)
ATP6V1E2 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atp6v1e2 35
  • 80.74 (n)
  • 79.11 (a)
Atp6v1e2 16
Atp6v1e2 36
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 69 (a)
ManyToMany
-- 36
  • 49 (a)
ManyToMany
-- 36
  • 72 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 55 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Atp6v1e2 35
  • 80.3 (n)
  • 77.78 (a)
chicken
(Gallus gallus)
Aves ATP6V1E1 36
  • 73 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 74 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia MGC64332 35
zebrafish
(Danio rerio)
Actinopterygii atp6v1e1b 36
  • 67 (a)
ManyToMany
si:ch211-266k8.3 36
  • 67 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Vha26 36
  • 61 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea vha-8 36
  • 56 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VMA4 36
  • 35 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons TUF 35
  • 51.53 (n)
  • 44.5 (a)
rice
(Oryza sativa)
Liliopsida Os01g0659200 35
  • 51.99 (n)
  • 44.95 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5232 36
  • 42 (a)
OneToMany
Species with no ortholog for ATP6V1E2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ATP6V1E2 Gene

ENSEMBL:
Gene Tree for ATP6V1E2 (if available)
TreeFam:
Gene Tree for ATP6V1E2 (if available)

Paralogs for ATP6V1E2 Gene

Paralogs for ATP6V1E2 Gene

Selected SIMAP similar genes for ATP6V1E2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with ATP6V1E2: view

Variants for ATP6V1E2 Gene

Sequence variations from dbSNP and Humsavar for ATP6V1E2 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs753906 -- 46,521,344(-) CCAAG(A/C)ACTCC upstream-variant-2KB, intron-variant
rs880671 -- 46,519,117(-) GCCAG(C/T)CTTCC utr-variant-5-prime, intron-variant
rs896209 -- 46,520,518(-) TTTAG(C/G/T)GGGGA upstream-variant-2KB, intron-variant
rs896210 -- 46,519,606(-) CTTTG(C/T)CAAAG utr-variant-5-prime, intron-variant
rs896211 -- 46,519,543(-) CAGAG(C/T)CCACG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ATP6V1E2 Gene

Variant ID Type Subtype PubMed ID
dgv1181e1 CNV Complex 17122850
dgv149e55 CNV Loss 17911159
essv19828 CNV CNV 17122850
nsv437435 CNV Loss 16327808
essv21584 CNV CNV 17122850
nsv9702 CNV Loss 18304495
nsv817828 CNV Loss 17921354
nsv873996 CNV Gain 21882294

Relevant External Links for ATP6V1E2 Gene

HapMap Linkage Disequilibrium report
ATP6V1E2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP6V1E2 Gene

Disorders for ATP6V1E2 Gene

No disorders were found for ATP6V1E2 Gene.

No data available for UniProtKB/Swiss-Prot for ATP6V1E2 Gene

Publications for ATP6V1E2 Gene

  1. A human gene, ATP6E1, encoding a testis-specific isoform of H(+)- ATPase subunit E. (PMID: 12036578) Imai-Senga Y. … Futai M. (Gene 2002) 2 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. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 3 4
  5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PMID: 17207965) Lamesch P. … Vidal M. (Genomics 2007) 3

Products for ATP6V1E2 Gene

  • Pathway & Disease-focused RT² Profiler PCR Arrays
  • QIAGEN qRT-PCR Assays for microRNAs that regulate ATP6V1E2
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat
  • Predesigned siRNA for gene silencing in human,mouse,rat for ATP6V1E2
  • Block miRNA regulation of ATP6V1E2 using miScript Target Protectors

Sources for ATP6V1E2 Gene

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