ATP6V0E2 (ATPase H+ transporting V0 subunit e2)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 155066 |
| Gene name | ATPase H+ transporting V0 subunit e2 |
| Gene symbol | ATP6V0E2 |
| Synonyms (NCBI Gene) |
ATP6V0E2LC7orf32
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| 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 |
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miRNA
miRNA information provided by mirtarbase database.
251
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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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
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| 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 |
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| Sequence length | 81 | ||||||||||
| Interactions | View interactions | ||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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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)
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