Harmonizome 3.0

embryonal Fyn-associated substrate

The protein encoded by this gene is a member of the CAS (CRK-associated substrate) family of adaptor proteins which typically serve as scaffolds for the assembly of larger signaling complexes. These complexes form at the cell surface where integrin binding leads to the subsequent phosphorylation of a CAS protein. Additional binding of SRC family kinases leads to CAS hyperphosphorylation and the creation of binding sites for CRK and other proteins that cause actin cytoskeleton reorganization. This gene plays a role in integrin-mediated cell attachment, spreading, and migration and also plays a role in both normal and malignant cellular transformation. This broadly expressed gene has been shown to play a role in neurite outgrowth and its expression in the thymus and lymphocytes is important for T cell maturation and the development of immunological self-tolerance. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2020]

TCF3 (E2A) fusion partner (in childhood Leukemia)

Predicted to enable DNA binding activity. Involved in several processes, including apoptotic signaling pathway; chromatin remodeling; and regulation of nucleobase-containing compound metabolic process. Located in nucleoplasm. Part of Ino80 complex. [provided by Alliance of Genome Resources, Mar 2025]

epilepsy, childhood absence 1