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. 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 for TOM1L2 Gene
Probable role in protein transport. May regulate growth factor-induced mitogenic signaling.