Aliases for AFDN Gene
External Ids for AFDN Gene
Previous HGNC Symbols for AFDN Gene
This gene encodes a multi-domain protein involved in signaling and organization of cell junctions during embryogenesis. It has also been identified as the fusion partner of acute lymphoblastic leukemia (ALL-1) gene, involved in acute myeloid leukemias with t(6;11)(q27;q23) translocation. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, however, not all have been fully characterized.[provided by RefSeq, May 2011]
GeneCards Summary for AFDN Gene
AFDN (Afadin, Adherens Junction Formation Factor) is a Protein Coding gene. Diseases associated with AFDN include Cleft Lip/Palate-Ectodermal Dysplasia Syndrome and Leukemia. Among its related pathways are Ras signaling pathway and Cell adhesion_Endothelial cell contacts by junctional mechanisms.
UniProtKB/Swiss-Prot Summary for AFDN Gene
Belongs to an adhesion system, probably together with the E-cadherin-catenin system, which plays a role in the organization of homotypic, interneuronal and heterotypic cell-cell adherens junctions (AJs) (By similarity). Nectin- and actin-filament-binding protein that connects nectin to the actin cytoskeleton (PubMed:11024295). May play a key role in the organization of epithelial structures of the embryonic ectoderm (By similarity). Essential for the organization of adherens junctions (PubMed:30463011).