DISEASES

Disease-gene associations mined from literature

Literature associating EPHA3 and beriberi

EPHA3 [ENSP00000337451]

Tyrosine-protein kinase receptor ETK1; Receptor tyrosine kinase which binds promiscuously membrane-bound ephrin family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Highly promiscuous for ephrin-A ligands it binds preferentially EFNA5. Upon activation by EFNA5 regulates cell-cell adhesion, cytoskeletal organization and cell migration. Plays a role in cardiac cells migration and differentiation and regulates the formation of the atrioventricular canal and septum during development probably through activation by EFNA1. Involved in the retinotectal mapping of neurons. May also control the segregation but not the guidance of motor and sensory axons during neuromuscular circuit development.

Synonyms:  EPHA3,  EPHA3p,  hEPHA3,  C9JXA2,  EPHA3-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM