TOM1L2 (target of myb1 like 2 membrane trafficking protein)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 146691 |
| Gene name | Target of myb1 like 2 membrane trafficking protein |
| Gene symbol | TOM1L2 |
| Synonyms (NCBI Gene) |
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| Chromosome | 17 |
| Chromosome location | 17p11.2 |
| 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 |
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q6ZVM7 | |||||||||||||||
| Protein name | TOM1-like protein 2 (Target of Myb-like protein 2) | |||||||||||||||
| Protein function | Acts as a MYO6/Myosin VI adapter protein that targets myosin VI to endocytic structures (PubMed:23023224). May also play a role in recruiting clathrin to endosomes (PubMed:16412388). May regulate growth factor-induced mitogenic signaling (PubMed | |||||||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Ubiquitously expressed with higher expression in heart and skeletal muscle. {ECO:0000269|PubMed:11997338}. | |||||||||||||||
| Sequence |
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| Sequence length | 507 | |||||||||||||||
| Interactions | View interactions | |||||||||||||||
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score:
★☆☆☆☆ Gene-disease association found in Text Mining only
★★☆☆☆ Found in Text Mining and Unknown/Other Associations
★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources
★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
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