Human Gene TOM1L2 (ENST00000581396.5) Description and Page Index
Description: Homo sapiens target of myb1 like 2 membrane trafficking protein (TOM1L2), transcript variant 1, mRNA. (from RefSeq NM_001033551) RefSeq Summary (NM_001033551): 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR7346977.2324549.1, BC051650.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## Gencode Transcript: ENST00000581396.5 Gencode Gene: ENSG00000175662.17 Transcript (Including UTRs) Position: hg38 chr17:17,843,511-17,972,410 Size: 128,900 Total Exon Count: 14 Strand: - Coding Region Position: hg38 chr17:17,847,635-17,972,313 Size: 124,679 Coding Exon Count: 14
ID:TM1L2_HUMAN DESCRIPTION: RecName: Full=TOM1-like protein 2; AltName: Full=Target of Myb-like protein 2; FUNCTION: Probable role in protein transport. May regulate growth factor-induced mitogenic signaling. SUBUNIT: Interacts with clathrin, SRC and TOLLIP. TISSUE SPECIFICITY: Ubiquitously expressed with higher expression in heart and skeletal muscle. DOMAIN: The GAT domain mediates interaction with TOLLIP. SIMILARITY: Belongs to the TOM1 family. SIMILARITY: Contains 1 GAT domain. SIMILARITY: Contains 1 VHS domain. SEQUENCE CAUTION: Sequence=AAL78338.1; Type=Frameshift; Positions=101, 121, 170;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q6ZVM7
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.