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EPHA2A gene on chromosome 1q36 that encodes a member of the ephrin-A receptor subfamily of receptor tyrosine kinases, which promiscuously bind membrane-bound ephrin-A family ligands residing on adjacent cells, leading to contact-dependent bidirectional signalling into neighbouring cells. Once activated by the ligand ephrin-A1 (EFNA1), it regulates cell adhesion and differentiation through DSG1/desmoglein-1 and inhibition of the ERK1/ERK2 (MAPK3/MAPK1, respectively) signalling pathway. It may participate in UV radiation-induced apoptosis and have a ligand-independent stimulatory effect on chemotactic cell migration.
During development, EPHA2 may function in distinctive aspects of pattern formation and development of several foetal tissues, such as angiogenesis, early hindbrain development and epithelial proliferation, and branching morphogenesis during mammary gland development. It is thought to regulate lens fibre cells’ shape and interactions and to be important for lens transparency development and maintenance. With ephrin-A2 (EFNA2), it may play a role in bone remodelling by regulating osteoclastogenesis and osteoblastogenesis.
EPHA2 interacts with ACP1, ANKS1A, ARHGEF16, CLDN4, DOCK4, ELMO2, INPPL1, PIK3R1, PIK3R2, PIK3R3, PTK2/FAK1, PTPN11, SLA, VAV2, and VAV3.
Defects in EPHA2 cause cataract cortical age-related type 2 (age-related cataract cortical type 2) and cataract posterior polar type 1 (posterior polar cataracts type 2).