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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
  • 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 Immune System and Signaling by GPCR. 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 and endosomes.

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

Chromosome:
2
Start:
46,489,355 bp from pter
End:
46,542,557 bp from pter
Size:
53,203 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

    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:
REFSEQ proteins:

No data available for DME Specific Peptides for ATP6V1E2 Gene

Domains & Families for ATP6V1E2 Gene

Gene Families for ATP6V1E2 Gene

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 :
  • Belongs to the V-ATPase E subunit family.
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:0016747 transferase activity, transferring acyl groups other than amino-acyl groups IEA --
GO:0046961 proton-transporting ATPase activity, rotational mechanism IEA --
genes like me logo Genes that share ontologies with ATP6V1E2: view

Phenotypes for ATP6V1E2 Gene

GenomeRNAi human phenotypes for ATP6V1E2:
genes like me logo Genes that share phenotypes 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) , Animal Models , Transcription Factor Targets 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
vacuole 2

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 & Interactions 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:0008152 metabolic process IEA --
GO:0008286 insulin receptor signaling pathway TAS --
GO:0015991 ATP hydrolysis coupled proton transport IEA --
GO:0033572 transferrin transport TAS --
genes like me logo Genes that share ontologies with ATP6V1E2: view

No data available for SIGNOR curated interactions for ATP6V1E2 Gene

Drugs & Compounds for ATP6V1E2 Gene

(2) Drugs for ATP6V1E2 Gene - From: HMDB 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

(5) Additional Compounds for ATP6V1E2 Gene - From: HMDB and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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
Concanamycin A
80890-47-7
Enterostatin
117830-79-2
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

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 (x8.0).

Protein differential expression in normal tissues from HIPED for ATP6V1E2 Gene

This gene is overexpressed in Brain (62.8).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with ATP6V1E2: view

Protein tissue co-expression partners for ATP6V1E2 Gene

- Elite partner

Primer Products

  • 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

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
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
chimpanzee
(Pan troglodytes)
Mammalia ATP6V1E2 35
  • 99.26 (n)
  • 98.67 (a)
ATP6V1E2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp6v1e2 35
  • 80.3 (n)
  • 77.78 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 69 (a)
ManyToMany
-- 36
  • 49 (a)
ManyToMany
-- 36
  • 72 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 55 (a)
OneToMany
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

(1) 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
rs873531 -- 46,499,626(-) GGCTC(C/T)TTTGC intron-variant
rs873532 -- 46,499,490(-) tctct(A/G)aacat 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

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

Variation tolerance for ATP6V1E2 Gene

Residual Variation Intolerance Score: 74.37% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.45; 43.07% of all genes are more intolerant (likely to be disease-causing)

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

Relevant External Links for ATP6V1E2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP6V1E2
genes like me logo Genes that share disorders with ATP6V1E2: view

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas 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 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 67
  4. Next-generation sequencing to generate interactome datasets. (PMID: 21516116) Yu H. … Vidal M. (Nat. Methods 2011) 67
  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) 67

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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