ATP6V1E2 Gene (Protein Coding)

ATPase H+ Transporting V1 Subunit E2

GC02M046489
GIFtS:
38

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
  • V-Type Proton ATPase Subunit E 2 3 4
  • 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
  • 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
  • GC02M046476
  • 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 Phagosome and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Gene Ontology (GO) annotations related to this gene include proton-transporting ATPase activity, rotational mechanism and proton-exporting ATPase activity, phosphorylative mechanism. An important paralog of this gene is ATP6V1E1.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for ATP6V1E2 Gene

Genomics for ATP6V1E2 Gene

GeneHancer (GH) Regulatory Elements for ATP6V1E2 Gene

Promoters and enhancers for ATP6V1E2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATP6V1E2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ATP6V1E2 gene promoter:
  • AML1a
  • c-Ets-1
  • c-Myb
  • Elk-1
  • LUN-1
  • RORalpha2
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c
  • ZIC2

Genomic Locations for ATP6V1E2 Gene

Genomic Locations for ATP6V1E2 Gene
chr2:46,489,355-46,542,577
(GRCh38/hg38)
Size:
53,223 bases
Orientation:
Minus strand
chr2:46,717,889-46,769,696
(GRCh37/hg19)
Size:
51,808 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 Structure • Gene Density

RefSeq DNA sequence for ATP6V1E2 Gene

Proteins for ATP6V1E2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for ATP6V1E2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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

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

Protein Domains for ATP6V1E2 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ATP6V1E2 Gene

GenScript: Design optimal peptide antigens:
  • Vacuolar proton pump subunit E 2 (VATE2_HUMAN)

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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: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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP6V1E2

Clone Products

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: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:0006811 ion transport IEA --
GO:0008286 insulin receptor signaling pathway TAS --
GO:0015991 ATP hydrolysis coupled proton transport IEA --
GO:0016241 regulation of macroautophagy NAS 22982048
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

Products:

  1. Drug

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Bafilomycin A1 Experimental Pharma V-ATPase inhibitor,selective and reversible, H+-ATPase (vacuolar) inhibitor 0
Concanamycin A Experimental Pharma V-type (vacuolar) H+-ATPase inhibitor, H+-ATPase (vacuolar) inhibitor 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
 Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
 14066-19-4, 14265-44-2

(2) 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
genes like me logo Genes that share compounds with ATP6V1E2: view

Transcripts for ATP6V1E2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for ATP6V1E2 Gene

(5) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(41) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP6V1E2

Clone 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

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ATP6V1E2 Gene

mRNA expression in normal human tissues for ATP6V1E2 Gene
mRNA expression by GTEx for ATP6V1E2 GenemRNA expression by BioGPS 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 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

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 32
  • 99.26 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia ATP6V1E2 33 32
  • 89.53 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia ATP6V1E2 33 32
  • 87.76 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Atp6v1e2 17 33 32
  • 80.74 (n)
rat
(Rattus norvegicus)
 Mammalia Atp6v1e2 32
  • 80.3 (n)
oppossum
(Monodelphis domestica)
 Mammalia -- 33
  • 72 (a)
 ManyToMany
-- 33
  • 69 (a)
 ManyToMany
-- 33
  • 49 (a)
 ManyToMany
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 33
  • 55 (a)
 OneToMany
chicken
(Gallus gallus)
 Aves ATP6V1E1 33
  • 73 (a)
 OneToMany
lizard
(Anolis carolinensis)
 Reptilia -- 33
  • 74 (a)
 OneToMany
African clawed frog
(Xenopus laevis)
 Amphibia MGC64332 32
zebrafish
(Danio rerio)
 Actinopterygii atp6v1e1b 33
  • 67 (a)
 ManyToMany
si:ch211-266k8.3 33
  • 67 (a)
 ManyToMany
fruit fly
(Drosophila melanogaster)
 Insecta Vha26 33
  • 61 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea vha-8 33
  • 56 (a)
 OneToMany
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes VMA4 33
  • 35 (a)
 OneToMany
thale cress
(Arabidopsis thaliana)
 eudicotyledons TUF 32
  • 51.53 (n)
rice
(Oryza sativa)
 Liliopsida Os01g0659200 32
  • 51.99 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.5232 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ATP6V1E2: view image

Paralogs for ATP6V1E2 Gene

Paralogs for ATP6V1E2 Gene

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

  • VATE2_HUMAN
genes like me logo Genes that share paralogs with ATP6V1E2: view

Variants for ATP6V1E2 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for ATP6V1E2 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000118632 -- 46,511,785(-) C/T downstream_transcript_variant
rs1000162926 -- 46,532,866(-) C/G intron_variant
rs1000378538 -- 46,531,624(-) A/G intron_variant
rs1000486971 -- 46,537,646(-) G/C intron_variant
rs1000506497 -- 46,525,319(-) G/A 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)

Additional Variant Information 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

Additional Disease Information for ATP6V1E2

ATLAS of Genetics and Cytogenetics in Oncology and Haematology

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 56
  2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 56
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  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 56
  5. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. (PMID: 30021884) Fasci D … Heck AJR (Molecular & cellular proteomics : MCP 2018) 3 56

ExternalLinks

View latest publications for ATP6V1E2 gene in Mastermind

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