TOM1L2

Chr 17

target of myb1 like 2 membrane trafficking protein

NCBI Gene: 146691 ENSG00000175662 UniProt: Q6ZVM7 OMIM: 615519

The protein functions as a MYO6/Myosin VI adapter that targets myosin VI to endocytic structures and may recruit clathrin to endosomes during vesicular trafficking. TOM1L2 is located within the 3.7 Mb deletion of chromosome 17p11.2 associated with Smith-Magenis syndrome, which typically presents in early childhood with intellectual disability, behavioral problems, and distinctive facial features. Smith-Magenis syndrome follows an autosomal dominant inheritance pattern due to the chromosomal deletion.

OMIM ResearchSummary from RefSeq, UniProt

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]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.56

LOEUF

Multiple*

Mechanism· predicted