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Aliases for ATP6V1E2 Gene

Aliases for ATP6V1E2 Gene

  • ATPase H+ Transporting V1 Subunit E2 2 3 5
  • 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
  • Testis Secretory Sperm-Binding Protein Li 235P 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 V1 Subunit E2) is a Protein Coding gene. Among its related pathways are Rheumatoid arthritis and mTOR signaling pathway (KEGG). 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

Additional gene information for ATP6V1E2 Gene

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

Genomics for ATP6V1E2 Gene

Regulatory Elements for ATP6V1E2 Gene

Enhancers for ATP6V1E2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H046540 1.4 ENCODE dbSUPER 33.5 -0.7 -663 6 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ATP6V1E2 ENSG00000253515 ENSG00000228925 SOCS5 RHOQ LOC100506142
GH02H046546 1.5 Ensembl ENCODE dbSUPER 24.4 -5.8 -5839 3 FOXA2 MLX ARID4B FEZF1 DMAP1 TCF12 RUNX3 SP5 MXD4 MIER2 ATP6V1E2 ENSG00000253515 RHOQ LOC100506142
GH02H046534 1.3 Ensembl ENCODE dbSUPER 25.7 +7.3 7290 1 ELF3 PKNOX1 TBL1XR1 SIN3A RARA ATF7 RUNX3 IKZF2 SMARCA5 CBFB ATP6V1E2 ENSG00000253515 RHOQ GC02M046499
GH02H046538 1.2 FANTOM5 Ensembl dbSUPER 25.8 +4.1 4057 1 POLR2A CEBPA HLF SCRT2 CEBPG RUNX3 MYC ATP6V1E2 ENSG00000253515 TTC7A RHOQ MCFD2 GC02M046499
GH02H046567 1.3 Ensembl ENCODE dbSUPER 23 -27.0 -26981 4 HDAC1 PKNOX1 ATF1 BATF ZKSCAN1 RELA ZNF766 POLR2A SCRT2 ZNF600 ATP6V1E2 CRIPT RHOQ ENSG00000253515 SOCS5 LOC100506142
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ATP6V1E2 on UCSC Golden Path with GeneCards custom track

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

Genes around ATP6V1E2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP6V1E2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for ATP6V1E2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ATP6V1E2 Gene

Domains & Families for ATP6V1E2 Gene

Gene Families for ATP6V1E2 Gene

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

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).

Phenotypes From GWAS Catalog for ATP6V1E2 Gene

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
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

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ATP6V1E2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ATP6V1E2 Gene

Localization for ATP6V1E2 Gene

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 ATP6V1E2 gene
Compartment Confidence
cytosol 4

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 and Subcellular locations from the Human Protein Atlas (HPA) for ATP6V1E2 Gene

Pathways & Interactions for ATP6V1E2 Gene

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

Gene Ontology (GO) - Biological Process for ATP6V1E2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
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 ATP6V1E2: view

No data available for SIGNOR curated interactions for ATP6V1E2 Gene

Drugs & Compounds for ATP6V1E2 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Disulfiram Approved Pharma Reversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities 39
Bafilomycin A1 Experimental Pharma V-ATPase inhibitor,selective and reversible, H+-ATPase (vacuolar) inhibitor 0
ATP Nutra Agonist 0
Concanamycin A Pharma V-type (vacuolar) H+-ATPase inhibitor, H+-ATPase (vacuolar) inhibitor 0

(2) Additional Compounds for ATP6V1E2 Gene - From: HMDB

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

(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
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

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ATP6V1E2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for ATP6V1E2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ATP6V1E2 Gene:

ATP6V1E2

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.

Evidence on tissue expression from TISSUES for ATP6V1E2 Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with ATP6V1E2: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP6V1E2 Gene

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 33 34
  • 99.26 (n)
dog
(Canis familiaris)
Mammalia ATP6V1E2 33 34
  • 89.53 (n)
cow
(Bos Taurus)
Mammalia ATP6V1E2 33 34
  • 87.76 (n)
mouse
(Mus musculus)
Mammalia Atp6v1e2 33 16 34
  • 80.74 (n)
rat
(Rattus norvegicus)
Mammalia Atp6v1e2 33
  • 80.3 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 72 (a)
ManyToMany
-- 34
  • 69 (a)
ManyToMany
-- 34
  • 49 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 55 (a)
OneToMany
chicken
(Gallus gallus)
Aves ATP6V1E1 34
  • 73 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 74 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia MGC64332 33
zebrafish
(Danio rerio)
Actinopterygii atp6v1e1b 34
  • 67 (a)
ManyToMany
si:ch211-266k8.3 34
  • 67 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Vha26 34
  • 61 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea vha-8 34
  • 56 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VMA4 34
  • 35 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons TUF 33
  • 51.53 (n)
rice
(Oryza sativa)
Liliopsida Os01g0659200 33
  • 51.99 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5232 34
  • 42 (a)
OneToMany
Species where no ortholog for ATP6V1E2 was found in the sources mined by GeneCards:
  • 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
rs1000118632 -- 46,511,785(+) CTCCC(C/T)TTATC downstream-variant-500B
rs1000162926 -- 46,532,866(+) TATGA(C/G)AGCAG intron-variant
rs1000378538 -- 46,531,624(+) GTTGA(A/G)CCATT intron-variant
rs1000486971 -- 46,537,646(+) TTCTG(C/G)ATTTT intron-variant
rs1000506497 -- 46,525,319(+) TAGCC(A/G)GGCGC intron-variant

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

Variant ID Type Subtype PubMed ID
dgv149e55 CNV loss 17911159
dgv690e214 CNV loss 21293372
esv2759046 CNV loss 17122850
nsv1009735 CNV loss 25217958
nsv437435 CNV loss 16327808
nsv817828 CNV loss 17921354
nsv9702 CNV loss 18304495

Variation tolerance for ATP6V1E2 Gene

Residual Variation Intolerance Score: 74.4% 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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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

No disorders were found for ATP6V1E2 Gene.

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 3 4 60
  2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 60
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60

Products for ATP6V1E2 Gene

Sources for ATP6V1E2 Gene

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