Aliases for ATP6V1E2 Gene
Aliases for ATP6V1E2 Gene
External Ids for ATP6V1E2 Gene
- HGNC: 18125
- Entrez Gene: 90423
- Ensembl: ENSG00000250565
- OMIM: 617385
- UniProtKB: Q96A05
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 Innate Immune System and Rheumatoid arthritis. Gene Ontology (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).
-
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.
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
GeneHancer (GH) Regulatory Elements for ATP6V1E2 Gene
Promoters and enhancers for ATP6V1E2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around ATP6V1E2 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for ATP6V1E2 Gene
Genomic Locations for ATP6V1E2 Gene
- chr2:46,489,355-46,542,557
- (GRCh38/hg38)
- Size:
- 53,203 bases
- Orientation:
- Minus strand
- chr2:46,717,889-46,769,696
- (GRCh37/hg19)
Genomic View for ATP6V1E2 Gene
Genes around ATP6V1E2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2p21 by Ensembl
- 2p21|2p16-p12 by Entrez Gene
- 2p21 by HGNC
ATP6V1E2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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).
Protein Expression for ATP6V1E2 Gene
Post-translational modifications for ATP6V1E2 Gene
No Post-translational modifications
Other Protein References for ATP6V1E2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
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- Novus Biologicals Antibodies for ATP6V1E2
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Protein Products
-
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Assay Products
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:
- ProtoNet:
Suggested Antigen Peptide Sequences for ATP6V1E2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q96A05- Family:
-
- Belongs to the V-ATPase E subunit family.
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
| 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 | -- |
Phenotypes for ATP6V1E2 Gene
- GenomeRNAi human phenotypes for ATP6V1E2:
Animal Model Products
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-
-
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CRISPR Products
-
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-
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miRNA for ATP6V1E2 Gene
- miRTarBase miRNAs that target ATP6V1E2
miRNA Products
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Inhibitory RNA Products
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Clone Products
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available ATP6V0E2 gene related products
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-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
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Horizon Cell Lines for ATP6V1E2
-
ViGene Biosciences adenoviral particle packaged cDNA for ATP6V1E2 gene
-
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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
| Compartment | Confidence |
|---|---|
| cytosol | 4 |
| 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 | -- |
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
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Insulin receptor recycling | ||
| 2 | Innate Immune System |
.61
|
|
| 3 | Metabolism | ||
| 4 | mTOR signaling pathway (KEGG) | ||
| 5 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. | ||
Pathways by source for ATP6V1E2 Gene
10 Reactome pathways for ATP6V1E2 Gene
Interacting Proteins for ATP6V1E2 Gene
Selected Interacting proteins:
ENSP00000304891
Q96A05-VATE2_HUMAN
for ATP6V1E2 Gene via
STRING
MINT
UniProtKB
IID
| 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 | -- |
No data available for SIGNOR curated interactions for ATP6V1E2 Gene
Drugs & Compounds for ATP6V1E2 Gene
| 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 | ||
| ATP | Investigational | Nutra | Agonist | 0 | ||
| Concanamycin A | Pharma | V-type (vacuolar) H+-ATPase inhibitor, H+-ATPase (vacuolar) inhibitor | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ADP |
|
Full agonist, Agonist | 58-64-0 |
|
||
| Phosphate |
|
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 |
Transcripts for ATP6V1E2 Gene
mRNA/cDNA for ATP6V1E2 Gene
- (12) REFSEQ mRNAs :
- (4) Additional mRNA sequences :
- (41) Selected AceView cDNA sequences:
- (6) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for ATP6V1E2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for ATP6V1E2
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-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ATP6V1E2
- GenScript: Design CRISPR guide RNA sequences for ATP6V1E2
miRNA Products
- Search ViGene Biosciences for ATP6V1E2
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for ATP6V1E2
- Browse OriGene Inhibitory RNA Products For ATP6V1E2
- genomics-online: shRNA clones - Search results for available ATP6V0E2 gene related products
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Clone Products
-
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- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ATP6V1E2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available ATP6V0E2 gene related products
- orf clones - Search results for available ATP6V0E2 gene related products
- Applied Biological Materials Clones for ATP6V1E2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for ATP6V1E2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Neural Tube (Nervous System)
-
Testis (Reproductive System)
mRNA differential expression in normal tissues according to GTEx for ATP6V1E2 Gene
This gene is overexpressed in Testis (x8.0).
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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of ATP6V1E2 Gene:
ATP6V1E2SOURCE GeneReport for Unigene cluster for ATP6V1E2 Gene:
Hs.659656mRNA 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)
Primer Products
-
OriGene qPCR primer pairs for ATP6V1E2
- genomics-online: primer clones - Search results for available ATP6V0E2 gene related 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ATP6V1E2 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | ATP6V1E2 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | ATP6V1E2 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Atp6v1e2 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Atp6v1e2 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
ManyToMany | |
| -- 34 |
|
ManyToMany | |||
| -- 34 |
|
ManyToMany | |||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| chicken (Gallus gallus) |
Aves | ATP6V1E1 34 |
|
OneToMany | |
| lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
OneToMany | |
| African clawed frog (Xenopus laevis) |
Amphibia | MGC64332 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | atp6v1e1b 34 |
|
ManyToMany | |
| si:ch211-266k8.3 34 |
|
ManyToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | Vha26 34 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | vha-8 34 |
|
OneToMany | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | VMA4 34 |
|
OneToMany | |
| thale cress (Arabidopsis thaliana) |
eudicotyledons | TUF 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os01g0659200 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.5232 34 |
|
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)
Paralogs for ATP6V1E2 Gene
(1) SIMAP similar genes for ATP6V1E2 Gene using alignment to 1 proteins:
Variants 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 |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv9702 | CNV | loss | 18304495 |
| nsv817828 | CNV | loss | 17921354 |
| nsv437435 | CNV | loss | 16327808 |
| nsv1009735 | CNV | loss | 25217958 |
| esv2759046 | CNV | loss | 17122850 |
| dgv690e214 | CNV | loss | 21293372 |
| dgv149e55 | CNV | loss | 17911159 |
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
No disorders were found for ATP6V1E2 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ATP6V1E2 Gene
Publications for ATP6V1E2 Gene
- 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 58
- Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 58
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
- 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 58
- Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 21 available ATP6V1E2 Antibodies ranked by validation data
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- GeneTex ATP6V1E2 antibody for ATP6V1E2
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Sources for ATP6V1E2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
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