TOM1L2

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]

Description

Target of myb1 like 2 membrane trafficking protein

Tissue specificity

Low tissue specificity

Subcell location

Golgi apparatus, Intermediate filaments

Predicted location

Intracellular

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

17:p11.2 (17843511 - 17972422)

Ensembl ID

ENSG00000175662  (ver. 103.38)

Orthologs

Mouse Tom1l2: ENSMUSG00000000538

UniProt

Q6ZVM7

neXtProt

NX_Q6ZVM7

Human splice variants
Mouse splice variants