Aliases for TOM1L2 Gene
External Ids for TOM1L2 Gene
Previous GeneCards Identifiers for TOM1L2 Gene
This gene belongs to a small gene family whose members have an N-terminal VHS domain followed by a GAT domain; domains which typically participate in vesicular trafficking. The canonical protein encoded by this gene also has a C-terminal clathrin binding motif. This protein has been shown to interact with Tollip, clathrin and ubiquitin and is thought to play a role in endosomal sorting. This gene resides in the 3.7 Mb deletion of chromosome region 17p11.2 that is associated with Smith-Magenis syndrome. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Apr 2017]
GeneCards Summary for TOM1L2 Gene
TOM1L2 (Target Of Myb1 Like 2 Membrane Trafficking Protein) is a Protein Coding gene. Diseases associated with TOM1L2 include Smith-Magenis Syndrome and Pancreatic Acinar Cell Adenocarcinoma. Gene Ontology (GO) annotations related to this gene include protein kinase binding and clathrin binding. An important paralog of this gene is TOM1.
UniProtKB/Swiss-Prot Summary for TOM1L2 Gene
Probable role in protein transport. May regulate growth factor-induced mitogenic signaling.