TOM1L2: Target of Myb1 Like 2 Membrane Trafficking Protein
A gene encoding a protein involved in endosomal trafficking and ubiquitin signaling, with potential implications in cancer and neurological disorders.
Gene Information Card
| Symbol | TOM1L2 |
|---|---|
| Full Name | Target of Myb1 Like 2 (Chicken) |
| Gene Type | Protein coding |
| Chromosomal Location | 17p11.2 |
| NCBI Gene ID | 146691 ncbi.nlm.nih.gov/gene/146691 |
| Ensembl ID | ENSG00000141510 |
| UniProt ID | Q6ZVM7 |
| OMIM ID | 615519 |
| HGNC ID | 25522 |
| Aliases | DKFZp686B10107, FLJ13052, MGC138207, MGC138209 |
Description
TOM1L2 (Target of Myb1 Like 2) is a protein-coding gene located on chromosome 17p11.2. The encoded protein is a member of the TOM1 family, which functions as an adaptor in clathrin- and ubiquitin-dependent endosomal trafficking. TOM1L2 contains an N-terminal VHS domain and a C-terminal GAT domain, mediating interactions with ubiquitin and endosomal sorting complexes. It is involved in the regulation of receptor signaling, lysosomal degradation, and intracellular membrane trafficking. Alternative splicing generates multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered expression may affect endosomal trafficking of growth factor receptors, influencing cell proliferation and migration. | Limited evidence from expression studies; not yet validated in large cohorts. |
| Neurodevelopmental disorders | Potential role in synaptic vesicle trafficking; mutations may disrupt neuronal endocytosis. | Reported in rare case studies; no GWAS association. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.0 | Moderate expression |
| HeLa | 11.5 | Moderate expression |
| K562 | 7.2 | Low expression |
| SH-SY5Y | 16.8 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123C>T (p.Arg375Trp) | Missense | <0.01% | Unknown; predicted damaging by in silico tools |
| c.1456G>A (p.Gly486Ser) | Missense | <0.01% | Unknown; no functional studies |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in TOM1L2.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in TOM1L2.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Endosomal sorting complex required for transport (ESCRT) pathway
• Clathrin-mediated endocytosis
Protein Summary
TOM1L2 is a 507-amino acid protein containing an N-terminal VHS domain and a C-terminal GAT domain. It functions as an adaptor protein that binds ubiquitin and clathrin, facilitating the sorting of ubiquitinated membrane proteins into multivesicular bodies for lysosomal degradation. TOM1L2 is localized to endosomes and the trans-Golgi network, and it interacts with components of the ESCRT machinery. Its expression is enriched in brain and testis, suggesting roles in neuronal and reproductive tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TOM1L2 Knockout HEK293 Cell Line | EDJ-KQ10488 | Human | 146691 | Details Get a Quote |
| TOM1L2 Knockout A-549 Cell Line | EDJ-KQ37885 | Human | 146691 | Details Get a Quote |
| TOM1L2 Knockout HCT 116 Cell Line | EDJ-KQ37886 | Human | 146691 | Details Get a Quote |
| TOM1L2 Knockout HeLa Cell Line | EDJ-KQ37887 | Human | 146691 | Details Get a Quote |
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