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. [provided by RefSeq, Jan 2017]
GeneCards Summary for ITSN2 Gene
ITSN2 (Intersectin 2) is a Protein Coding gene. Diseases associated with ITSN2 include Epilepsy, Focal, With Speech Disorder And With Or Without Mental Retardation and Cataract 3, Multiple Types. Among its related pathways are Vesicle-mediated transport and Clathrin-mediated endocytosis. Gene Ontology (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 Summary 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).