DISEASES

Disease-gene associations mined from literature

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Literature associating ATP6V1E2 and autosomal dominant severe congenital neutropenia

ATP6V1E2 [ENSP00000304891]

ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2; 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).

Synonyms:  ATP6V1E2,  Q96A05,  ATP6E1,  ATP6EL2,  ATP6V1EL2 ...

Linkouts:  STRING  Pharos  UniProt

The disease-gene associations are derived from automatic text mining of the biomedical literature, manually curated database annotations, cancer mutation data, and genome-wide association studies. The confidence of each association is signified by stars, where ★★★★★ is the highest confidence and ★☆☆☆☆ is the lowest.

Developed by Sune Frankild, Alexander Junge, Albert Pallejà, Dhouha Grissa, Kalliopi Tsafou, and Lars Juhl Jensen from the Novo Nordisk Foundation Center for Protein Research.