Aliases for ITSN2 Gene
External Ids for ITSN2 Gene
Previous HGNC Symbols for ITSN2 Gene
Previous GeneCards Identifiers for ITSN2 Gene
This gene encodes a cytoplasmic protein which contains SH3 domains. This protein is a member of a family of proteins involved in clathrin-mediated endocytosis. Intersectin 2 is thought to regulate the formation of clathrin-coated vesicles and also may function in the induction of T cell antigen receptor (TCR) endocytosis. Alternatively spliced transcript variants have been found for this gene that encode three distinct isoforms. Additional variants have been found but their full length nature has not been determined. [provided by RefSeq, Jul 2008]
GeneCards Summary for ITSN2 Gene
ITSN2 (Intersectin 2) is a Protein Coding gene. Diseases associated with ITSN2 include Landau-Kleffner Syndrome and Intestinal Schistosomiasis. Among its related pathways are Vesicle-mediated transport and Clathrin-mediated endocytosis. GO annotations related to this gene include calcium ion binding and SH3/SH2 adaptor activity. An important paralog of this gene is ITSN1.
UniProtKB/Swiss-Prot for ITSN2 Gene
Adapter protein that may provide indirect link between the endocytic membrane traffic and the actin assembly machinery. May regulate the formation of clathrin-coated vesicles (CCPs). Seems to be involved in CCPs maturation including invagination or budding. Involved in endocytosis of integrin beta-1 (ITGB1) and transferrin receptor (TFR). Plays a role in dendrite formation by melanocytes (PubMed:23999003).