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Gene : ATP6V0E2 Homo sapiens

Name  ? ATPase H+ transporting V0 subunit e2 Cytological Location  7q36.1
Brief Description  ATPase H transporting V0 subunit e2
Description  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 of specialized cells, where they play roles in urinary acidification, bone resorption, and sperm maturation. Multiple subunits form H(+)-ATPases, with proteins of the V1 class hydrolyzing ATP for energy to transport H+, and proteins of the V0 class forming an integral membrane domain through which H+ is transported. ATP6V0E2 encodes an isoform of the H(+)-ATPase V0 e subunit, an essential proton pump component (Blake-Palmer et al., 2007 [PubMed 17350184]).[supplied by OMIM, Mar 2008]
  • synonyms:
  • chromosome 7 open reading frame 32,
  • ATP6V0E2L,
  • NM_145230,
  • uc003wgp.3,
  • ATP6V0E2L,
  • AK057700,
  • HGNC:21723,
  • C7orf32,
  • ATPase, H+ transporting V0 subunit e2,
  • OTTHUMG00000158094,
  • ATP6V0E2,
  • C7orf32,
  • ATPase, H+ transporting V0 subunit E isoform 2-like (rat)
  • identifiers:
  • 155066,
  • ENSG00000171130,
  • ATP6V0E2

Genome feature

Region: gene ? Length: 7750  
Location: 7:149872964-149880713 Cyto location: 7q36.1


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

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SNPs

Gene Report --> GWAS hit

Disease

0 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

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Other

3756 SN Ps

5 Cross References

15 Data Sets

10 Homologues

0 Located Features

97 Rna Seq Results