DISEASES

Disease-gene associations mined from literature

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Literature associating EPN1 and familial erythrocytosis 1

EPN1 [ENSP00000406209]

EH domain-binding mitotic phosphoprotein; Binds to membranes enriched in phosphatidylinositol 4,5- bisphosphate (PtdIns(4,5)P2). Modifies membrane curvature and facilitates the formation of clathrin-coated invaginations (By similarity). Regulates receptor-mediated endocytosis; Belongs to the epsin family.

Synonyms:  EPN1,  EPN1p,  hEPN1,  A0A024R4S1,  B4DU91 ...

Linkouts:  STRING  Pharos  UniProt  OMIM

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.