TOM1L2, Official Symbol TOM1L2provided by HGNC Official Full Name target of myb1 like 2 membrane trafficking proteinprovided by HGNC Primary source HGNC:HGNC:11984 See related Ensembl:ENSG00000175662 MIM:615519; AllianceGenome:HGNC:11984 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary 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] Expression Broad expression in heart (RPKM 43.2), brain (RPKM 27.4) and 23 other tissues See more Orthologs mouse all