GENE NAME | TOM1L2 |
CHROMOSOME | 17 |
ENSEMBL ID | ENSG00000175662 |
ENTREZ ID | 146691 |
UNIPROT ACCESSION NUMBER | Q6ZVM7 |
GO MOLECULAR FUNCTION | protein kinase binding; clathrin binding; protein binding; ubiquitin binding; phosphatidylinositol binding |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | |
1 combination linked to TOM1L2 | OLI983 |
1 variant linked to TOM1L2 | TOM1L2:c.98A>C, p.Asn33Thr |
1 disease linked to TOM1L2 | Overgrowth or tall stature syndrome with skeletal involvement |