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Kinase Fusion Gene:TOMM20_EPHB2 |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: TOMM20_EPHB2 | KinaseFusionDB ID: KFG6680 | FusionGDB2.0 ID: KFG6680 | Hgene | Tgene | Gene symbol | TOMM20 | EPHB2 | Gene ID | 9804 | 2048 | |
| Gene name | translocase of outer mitochondrial membrane 20 | EPH receptor B2 | ||||||||||
| Synonyms | MAS20|MOM19|TOM20 | BDPLT22|CAPB|DRT|EK5|EPHT3|ERK|Hek5|PCBC|Tyro5 | ||||||||||
| Cytomap | 1q42.3 | 1p36.12 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | mitochondrial import receptor subunit TOM20 homologmitochondrial 20 kDa outer membrane proteinouter mitochondrial membrane receptor Tom20translocase of outer mitochondrial membrane 20 homolog type II | ephrin type-B receptor 2EPH-like kinase 5developmentally-regulated Eph-related tyrosine kinaseelk-related tyrosine kinaseeph tyrosine kinase 3protein-tyrosine kinase HEK5renal carcinoma antigen NY-REN-47tyrosine-protein kinase TYRO5tyrosine-protei | ||||||||||
| Modification date | 20240413 | 20240411 | ||||||||||
| UniProtAcc | Q15388 | P29323 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000366607, ENST00000467767, | ENST00000465676, ENST00000374627, ENST00000374630, ENST00000374632, ENST00000400191, ENST00000544305, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: TOMM20 [Title/Abstract] AND EPHB2 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | TOMM20(235291910)-EPHB2(23208852), # samples:3 | |||||||||||
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | TOMM20 | GO:0006626 | protein targeting to mitochondrion | 14557246 |
| Tgene | EPHB2 | GO:2000785 | regulation of autophagosome assembly | 33280498 |
| Kinase Fusion gene breakpoints across TOMM20 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Kinase Fusion gene breakpoints across EPHB2 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Kinase Fusion Gene Sample Information |
| Kinase Fusion gene information. |
| Kinase Fusion gene information from four resources (ChiTars 5.0, ChimerDB 4.0, COSMIC, and CCLE) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| Source | Sample | Hgene | Hchr | Hbp | Tgene | Tchr | Tbp |
| ChimerDB4 | TCGA-BR-7716-01A | TOMM20 | chr1 | 235291910 | EPHB2 | chr1 | 23208852 |
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Kinase Fusion ORF Analysis |
| Kinase Fusion information from ORFfinder translation from full-length transcript sequence from KinaseFusionDB. |
| Henst | Tenst | Hgene | Hchr | Hbp | Tgene | Tchr | Tbp | Seq length (transcript) | Seq length (amino acids) |
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Kinase Fusion Amino Acid Sequences |
| For individual full-length fusion transcript sequence from KinaseFusionDB, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
| >Henst_Tenst_Hgene_Hchr_Hbp_Tgene_Tchr_Tbp_length(fusion AA)_AAseq |
Multiple Sequence Alignment of All Fusion Protein Isoforms |
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Kinase Fusion Protein Functional Features |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:235291910/:23208852) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TOMM20 | EPHB2 |
| FUNCTION: Central component of the receptor complex responsible for the recognition and translocation of cytosolically synthesized mitochondrial preproteins. Together with TOM22 functions as the transit peptide receptor at the surface of the mitochondrion outer membrane and facilitates the movement of preproteins into the TOM40 translocation pore (By similarity). Required for the translocation across the mitochondrial outer membrane of cytochrome P450 monooxygenases. {ECO:0000250, ECO:0000250|UniProtKB:Q62760}. | FUNCTION: Receptor tyrosine kinase which binds promiscuously transmembrane ephrin-B family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Functions in axon guidance during development. Involved in the guidance of commissural axons, that form a major interhemispheric connection between the 2 temporal lobes of the cerebral cortex. Also involved in guidance of contralateral inner ear efferent growth cones at the midline and of retinal ganglion cell axons to the optic disk. In addition to axon guidance, also regulates dendritic spines development and maturation and stimulates the formation of excitatory synapses. Upon activation by EFNB1, abolishes the ARHGEF15-mediated negative regulation on excitatory synapse formation. Controls other aspects of development including angiogenesis, palate development and in inner ear development through regulation of endolymph production. Forward and reverse signaling through the EFNB2/EPHB2 complex regulate movement and adhesion of cells that tubularize the urethra and septate the cloaca. May function as a tumor suppressor. May be involved in the regulation of platelet activation and blood coagulation (PubMed:30213874). {ECO:0000269|PubMed:15300251, ECO:0000269|PubMed:30213874}. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at * Minus value of BPloci means that the break pointn is located before the CDS. |
| - Retained domain in the 5'-partner of fusion protein (protein functional feature from UniProt). |
| Partner | Hgeneene | Hbp | Tgeneene | Tbp | ENST | BPexon | TotalExon | Protein feature loci | BPloci | TotalLen | Feature | Note |
| - Retained domain in the 3'-partner of fusion protein (protein functional feature from UniProt). |
| Partner | Hgeneene | Hbp | Tgeneene | Tbp | ENST | BPexon | TotalExon | Protein feature loci | BPloci | TotalLen | Feature | Note |
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Kinase-Substrate Information of TOMM20_EPHB2 |
| Phosphorylation target of the kinase (phosphosite, 03-17-2024) |
| Kinase | Kinase UniProt Acc | Kinase species | Substrate | Substrate UniProt Acc | Substrate phosphorylated residues | Substrate phosphorylated sites (+/-7AA) | Domain |
| EPHB2 | P29323 | human | TAGAP | Q8N103 | Y310 | TLQNDSAyDSNDPDV | |
| EPHB2 | P29323 | human | L1CAM | P32004 | Y1229 | DGSFIGQySGKKEkE | Bravo_FIGEY |
| EPHB2 | P29323 | human | RRAS | P10301 | Y66 | DPTIEDSyTKICSVD | Ras |
| EPHB2 | P29323 | human | SRC | P12931 | Y419 | RLIEDNEytARQGAk | PK_Tyr_Ser-Thr |
| Biological Network Integration of This Kinase and Substrates (GeneMANIA website) |
| Enriched GO biological processes of the phosphorylation target genes of the kinase |
| Kinase | GOID | GO term | P.adjust |
| EPHB2 | ID | Description | 0.00e+00 |
| EPHB2 | GO:0007160 | cell-matrix adhesion | 3.57e-03 |
| EPHB2 | GO:0007265 | Ras protein signal transduction | 3.93e-03 |
| EPHB2 | GO:0031589 | cell-substrate adhesion | 3.93e-03 |
| EPHB2 | GO:0007264 | small GTPase mediated signal transduction | 7.71e-03 |
| EPHB2 | GO:0001952 | regulation of cell-matrix adhesion | 2.33e-02 |
| EPHB2 | GO:0010634 | positive regulation of epithelial cell migration | 3.43e-02 |
| EPHB2 | GO:0046578 | regulation of Ras protein signal transduction | 3.43e-02 |
| EPHB2 | GO:0010810 | regulation of cell-substrate adhesion | 3.43e-02 |
| EPHB2 | GO:0051896 | regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction | 3.43e-02 |
| EPHB2 | GO:0043491 | phosphatidylinositol 3-kinase/protein kinase B signal transduction | 3.43e-02 |
| EPHB2 | GO:0010632 | regulation of epithelial cell migration | 3.43e-02 |
| EPHB2 | GO:0051056 | regulation of small GTPase mediated signal transduction | 3.43e-02 |
| EPHB2 | GO:0070372 | regulation of ERK1 and ERK2 cascade | 3.43e-02 |
| EPHB2 | GO:0070371 | ERK1 and ERK2 cascade | 3.43e-02 |
| EPHB2 | GO:0031346 | positive regulation of cell projection organization | 3.43e-02 |
| EPHB2 | GO:0035332 | positive regulation of hippo signaling | 3.43e-02 |
| EPHB2 | GO:0036093 | germ cell proliferation | 3.43e-02 |
| EPHB2 | GO:0071803 | positive regulation of podosome assembly | 3.43e-02 |
| EPHB2 | GO:0010631 | epithelial cell migration | 3.43e-02 |
| EPHB2 | GO:0090132 | epithelium migration | 3.43e-02 |
| EPHB2 | GO:0033625 | positive regulation of integrin activation | 3.43e-02 |
| EPHB2 | GO:0034139 | regulation of toll-like receptor 3 signaling pathway | 3.43e-02 |
| EPHB2 | GO:0050847 | progesterone receptor signaling pathway | 3.43e-02 |
| EPHB2 | GO:0072584 | caveolin-mediated endocytosis | 3.43e-02 |
| EPHB2 | GO:2000392 | regulation of lamellipodium morphogenesis | 3.43e-02 |
| EPHB2 | GO:0090130 | tissue migration | 3.43e-02 |
| EPHB2 | GO:2001214 | positive regulation of vasculogenesis | 3.43e-02 |
| EPHB2 | GO:0071801 | regulation of podosome assembly | 3.43e-02 |
| EPHB2 | GO:0035791 | platelet-derived growth factor receptor-beta signaling pathway | 3.43e-02 |
| EPHB2 | GO:0051895 | negative regulation of focal adhesion assembly | 3.43e-02 |
| EPHB2 | GO:0150118 | negative regulation of cell-substrate junction organization | 3.43e-02 |
| EPHB2 | GO:2001212 | regulation of vasculogenesis | 3.43e-02 |
| EPHB2 | GO:0033623 | regulation of integrin activation | 3.43e-02 |
| EPHB2 | GO:0045785 | positive regulation of cell adhesion | 3.43e-02 |
| EPHB2 | GO:0036035 | osteoclast development | 3.43e-02 |
| EPHB2 | GO:0038128 | ERBB2 signaling pathway | 3.43e-02 |
| EPHB2 | GO:0045780 | positive regulation of bone resorption | 3.43e-02 |
| EPHB2 | GO:0060576 | intestinal epithelial cell development | 3.43e-02 |
| EPHB2 | GO:0072673 | lamellipodium morphogenesis | 3.43e-02 |
| EPHB2 | GO:0086103 | G protein-coupled receptor signaling pathway involved in heart process | 3.43e-02 |
| EPHB2 | GO:0098751 | bone cell development | 3.43e-02 |
| EPHB2 | GO:2000811 | negative regulation of anoikis | 3.43e-02 |
| EPHB2 | GO:0001667 | ameboidal-type cell migration | 3.43e-02 |
| EPHB2 | GO:0038166 | angiotensin-activated signaling pathway | 3.43e-02 |
| EPHB2 | GO:0071800 | podosome assembly | 3.43e-02 |
| EPHB2 | GO:2000641 | regulation of early endosome to late endosome transport | 3.43e-02 |
| EPHB2 | GO:0032211 | negative regulation of telomere maintenance via telomerase | 3.43e-02 |
| EPHB2 | GO:0045056 | transcytosis | 3.43e-02 |
| EPHB2 | GO:0051900 | regulation of mitochondrial depolarization | 3.43e-02 |
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Related Drugs to TOMM20_EPHB2 |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
| Distribution of the number of studies mentioning TOMM20-EPHB2 and kinase inhibitors the PubMed Abstract (04-01-2024) |
| Fusion gene - drug pair 1 | Fusion gene - drug pair 2 | PMID | Publication date | DOI | Study title |
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Related Diseases to TOMM20_EPHB2 |
| Diseases that have this fusion gene. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Disease | Source | PMID |
| Related diseases from the literature mentioned this fusion gene and drug. (PubMed, 04-01-2024) |
| MeSH ID | MeSH term |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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Clinical Trials of the Found Drugs/Small Molecules |
| Statistics of the Clinical Trials of the Found Kinase Inibitors from clinicaltrials.gov (06-17-2024) |
| Clinical Trials from clinicaltrials.gov (06-17-2024) |
| Fusion Gene | Kinase Inhibitor | NCT ID | Study Status | Phases | Disease | # Enrolment | Date |
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