Aliases for ATP6V1E2 Gene

Aliases for ATP6V1E2 Gene

  • ATPase H+ Transporting V1 Subunit E2 2 3 5
  • ATP6E1 2 3 4
  • 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
  • VMA4 2 3
  • 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
  • ATP6V1E2 5
  • MGC9341 2

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. Diseases associated with ATP6V1E2 include Mental Retardation, X-Linked, Syndromic, Hedera Type and Amyotrophic Lateral Sclerosis 12. Among its related pathways are Synaptic vesicle cycle and Signaling by GPCR. 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 Pubs

Promoters and enhancers for ATP6V1E2 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
GH02J046540 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 633.5 -0.6 -642 6.1 CEBPG SP1 HNRNPL CREB1 GATAD2A CTCF ATF7 TEAD4 PRDM10 ZNF629 ATP6V1E2 RHOQ lnc-ATP6V1E2-5 ENSG00000253515 ENSG00000228925 SOCS5 lnc-RHOQ-2 RHOQ-AS1 CRIPT
GH02J046519 Promoter/Enhancer 1.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 608.6 +22.0 21976 3.6 RELA ZSCAN4 IKZF2 EED RELB CEBPB IKZF1 SPI1 EBF1 HNF4A ATP6V1E2 lnc-RHOQ-3 ENSG00000253515 CRIPT LINC02583 TTC7A RHOQ lnc-ATP6V1E2-5 lnc-PIGF-3 TMEM247
GH02J046546 Promoter/Enhancer 1.4 Ensembl ENCODE dbSUPER 24.5 -5.8 -5847 3.5 GATAD2A TFE3 SOX13 NFKBIZ RCOR2 ZNF7 ZIC2 RXRB IRF2 PBX2 ATP6V1E2 ENSG00000253515 RHOQ RHOQ-AS1 CRIPT
GH02J046534 Promoter/Enhancer 1.3 Ensembl ENCODE dbSUPER 25.7 +7.4 7365 1.8 ZNF512 BACH1 LARP7 STAT3 RELA NR2C1 IKZF2 PKNOX1 EED SIN3A lnc-RHOQ-2 ATP6V1E2 ENSG00000253515 RHOQ lnc-ATP6V1E2-5 lnc-RHOQ-3 TMEM247
GH02J046567 Promoter/Enhancer 1.3 Ensembl ENCODE dbSUPER 23 -27.0 -26961 4.3 PKNOX1 IKZF2 TRIM22 HDAC1 ZNF600 POLR2A SCRT2 ARID3A ZNF766 DPF2 ATP6V1E2 CRIPT RHOQ ENSG00000253515 SOCS5 RHOQ-AS1
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATP6V1E2

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
chr2:46,490,750-46,542,577
(GRCh38/hg38)
Size:
51,828 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 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

InterPro:
Blocks:
  • H+-transporting two-sector ATPase, E subunit
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

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 proton-exporting ATPase activity, phosphorylative mechanism IBA 21873635
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

Inhibitory RNA Products

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

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
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ATP6V1E2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle IEA --
GO:0005623 cell 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:0006811 ion transport IEA --
GO:0008286 insulin receptor signaling pathway TAS --
GO:0016241 regulation of macroautophagy NAS 22982048
GO:0033572 transferrin transport TAS --
GO:0034220 ion transmembrane 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
tiludronate Approved, Investigational, Vet_approved Pharma Target, inhibitor 2
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, Partial agonist, Antagonist, Full agonist, Gating inhibitor, 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
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 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

mRNA/cDNA for ATP6V1E2 Gene

5 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
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

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

No ASD Table

Relevant External Links for ATP6V1E2 Gene

GeneLoc Exon Structure for
ATP6V1E2

Expression for ATP6V1E2 Gene

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



Protein tissue co-expression partners for ATP6V1E2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 30 31
  • 99.26 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ATP6V1E2 30 31
  • 89.53 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ATP6V1E2 30 31
  • 87.76 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Atp6v1e2 30 17 31
  • 80.74 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Atp6v1e2 30
  • 80.3 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 72 (a)
ManyToMany
-- 31
  • 69 (a)
ManyToMany
-- 31
  • 49 (a)
ManyToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 55 (a)
OneToMany
Chicken
(Gallus gallus)
Aves ATP6V1E1 31
  • 73 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 74 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia MGC64332 30
Zebrafish
(Danio rerio)
Actinopterygii atp6v1e1b 31
  • 67 (a)
ManyToMany
si:ch211-266k8.3 31
  • 67 (a)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Vha26 31
  • 61 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea vha-8 31
  • 56 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VMA4 31
  • 35 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons TUF 30
  • 51.53 (n)
Rice
(Oryza sativa)
Liliopsida Os01g0659200 30
  • 51.99 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.5232 31
  • 42 (a)
OneToMany
Species where no ortholog for ATP6V1E2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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

Additional dbSNP identifiers (rs#s) for ATP6V1E2 Gene

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 and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATP6V1E2 Gene

Disorders for ATP6V1E2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ATP6V1E2 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with ATP6V1E2: view

No data available for 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
  2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  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
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for ATP6V1E2 Gene

  • Signalway Proteins for ATP6V1E2

Sources for ATP6V1E2 Gene