Gene Gene information from NCBI Gene database.
Entrez ID 155066
Gene name ATPase H+ transporting V0 subunit e2
Gene symbol ATP6V0E2
Synonyms (NCBI Gene)
ATP6V0E2LC7orf32
Chromosome 7
Chromosome location 7q36.1
Summary Multisubunit vacuolar-type proton pumps, or H(+)-ATPases, acidify various intracellular compartments, such as vacuoles, clathrin-coated and synaptic vesicles, endosomes, lysosomes, and chromaffin granules. H(+)-ATPases are also found in plasma membranes o
miRNA miRNA information provided by mirtarbase database.
251
miRTarBase ID miRNA Experiments Reference
MIRT526900 hsa-miR-3606-3p PAR-CLIP 22012620
MIRT526899 hsa-miR-513a-3p PAR-CLIP 22012620
MIRT526898 hsa-miR-513c-3p PAR-CLIP 22012620
MIRT526897 hsa-miR-6863 PAR-CLIP 22012620
MIRT526896 hsa-miR-1250-3p PAR-CLIP 22012620
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
GO ID Ontology Definition Evidence Reference
GO:0000220 Component Vacuolar proton-transporting V-type ATPase, V0 domain ISS
GO:0005765 Component Lysosomal membrane TAS
GO:0006811 Process Monoatomic ion transport IEA
GO:0007035 Process Vacuolar acidification ISS
GO:0010008 Component Endosome membrane TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611019 21723 ENSG00000171130
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NHE4
Protein name V-type proton ATPase subunit e 2 (V-ATPase subunit e 2) (Lysosomal 9 kDa H(+)-transporting ATPase V0 subunit e2) (Vacuolar proton pump subunit e 2)
Protein function Subunit of the V0 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (By similarity). V-ATPase is responsible
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05493 ATP_synt_H 9 70 ATP synthase subunit H Family
Tissue specificity TISSUE SPECIFICITY: Isoform 1 is expressed at high levels in heart, brain and kidney and also detected in inner ear epithelium, vestibule, testis, epididymis and bladder. Isoform 2 is expressed in heart, kidney, placenta and pancreas. Isoform 2 is not det
Sequence
Sequence length 81
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Oxidative phosphorylation
Metabolic pathways
Phagosome
Synaptic vesicle cycle
Collecting duct acid secretion
Vibrio cholerae infection
Epithelial cell signaling in Helicobacter pylori infection
Human papillomavirus infection
Rheumatoid arthritis
  ROS and RNS production in phagocytes
Insulin receptor recycling
Transferrin endocytosis and recycling
Amino acids regulate mTORC1
Ion channel transport
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCOLIOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Pituitary Neoplasms Pituitary neoplasm Pubtator 37418994 Associate
★☆☆☆☆
Found in Text Mining only