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Kinase Fusion Gene:ZBTB17_EPHA2 |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: ZBTB17_EPHA2 | KinaseFusionDB ID: KFG7221 | FusionGDB2.0 ID: KFG7221 | Hgene | Tgene | Gene symbol | ZBTB17 | EPHA2 | Gene ID | 7709 | 1969 | |
| Gene name | zinc finger and BTB domain containing 17 | EPH receptor A2 | ||||||||||
| Synonyms | MIZ-1|ZNF151|ZNF60|pHZ-67 | ARCC2|CTPA|CTPP1|CTRCT6|ECK | ||||||||||
| Cytomap | 1p36.13 | 1p36.13 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | zinc finger and BTB domain-containing protein 17Myc-interacting Zn finger protein-1zinc finger protein 151 (pHZ-67)zinc finger protein 60 | ephrin type-A receptor 2epithelial cell receptor protein tyrosine kinasetyrosine-protein kinase receptor ECK | ||||||||||
| Modification date | 20240403 | 20240411 | ||||||||||
| UniProtAcc | Q13105 | P29317 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000375733, ENST00000375743, ENST00000537142, ENST00000479282, ENST00000448462, | ENST00000461614, ENST00000358432, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: ZBTB17 [Title/Abstract] AND EPHA2 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | ZBTB17(16273429)-EPHA2(16451815), # samples:1 | |||||||||||
| 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 | ZBTB17 | GO:0008285 | negative regulation of cell population proliferation | 19160485 |
| Hgene | ZBTB17 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 9312026 |
| Hgene | ZBTB17 | GO:0070314 | G1 to G0 transition | 19160485 |
| Tgene | EPHA2 | GO:0008630 | intrinsic apoptotic signaling pathway in response to DNA damage | 18339848 |
| Tgene | EPHA2 | GO:0030335 | positive regulation of cell migration | 24002999 |
| Tgene | EPHA2 | GO:0033628 | regulation of cell adhesion mediated by integrin | 10655584 |
| Tgene | EPHA2 | GO:0043491 | phosphatidylinositol 3-kinase/protein kinase B signal transduction | 19573808 |
| Tgene | EPHA2 | GO:0048013 | ephrin receptor signaling pathway | 10655584|20861311 |
| Tgene | EPHA2 | GO:0051898 | negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction | 19573808 |
| Kinase Fusion gene breakpoints across ZBTB17 (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 EPHA2 (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-VQ-A91Y | ZBTB17 | chr1 | 16273429 | EPHA2 | chr1 | 16451815 |
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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/:16273429/:16451815) - 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 |
| ZBTB17 | EPHA2 |
| FUNCTION: Transcription factor that can function as an activator or repressor depending on its binding partners, and by targeting negative regulators of cell cycle progression. Plays a critical role in early lymphocyte development, where it is essential to prevent apoptosis in lymphoid precursors, allowing them to survive in response to IL7 and undergo proper lineage commitment. Has been shown to bind to the promoters of adenovirus major late protein and cyclin D1 and activate transcription. Required for early embryonic development during gastrulation. Represses RB1 transcription; this repression can be blocked by interaction with ZBTB49 isoform 3/ZNF509S1 (PubMed:25245946). {ECO:0000269|PubMed:16142238, ECO:0000269|PubMed:19164764, ECO:0000269|PubMed:25245946, ECO:0000269|PubMed:9308237, ECO:0000269|PubMed:9312026}. | FUNCTION: Receptor tyrosine kinase which binds promiscuously membrane-bound ephrin-A 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. Activated by the ligand ephrin-A1/EFNA1 regulates migration, integrin-mediated adhesion, proliferation and differentiation of cells. Regulates cell adhesion and differentiation through DSG1/desmoglein-1 and inhibition of the ERK1/ERK2 (MAPK3/MAPK1, respectively) signaling pathway. May also participate in UV radiation-induced apoptosis and have a ligand-independent stimulatory effect on chemotactic cell migration. During development, may function in distinctive aspects of pattern formation and subsequently in development of several fetal tissues. Involved for instance in angiogenesis, in early hindbrain development and epithelial proliferation and branching morphogenesis during mammary gland development. Engaged by the ligand ephrin-A5/EFNA5 may regulate lens fiber cells shape and interactions and be important for lens transparency development and maintenance. With ephrin-A2/EFNA2 may play a role in bone remodeling through regulation of osteoclastogenesis and osteoblastogenesis. {ECO:0000269|PubMed:10655584, ECO:0000269|PubMed:16236711, ECO:0000269|PubMed:18339848, ECO:0000269|PubMed:19573808, ECO:0000269|PubMed:20679435, ECO:0000269|PubMed:20861311, ECO:0000269|PubMed:23358419, ECO:0000269|PubMed:26158630, ECO:0000269|PubMed:27385333}.; FUNCTION: (Microbial infection) Acts as a receptor for hepatitis C virus (HCV) in hepatocytes and facilitates its cell entry. Mediates HCV entry by promoting the formation of the CD81-CLDN1 receptor complexes that are essential for HCV entry and by enhancing membrane fusion of cells expressing HCV envelope glycoproteins. {ECO:0000269|PubMed:21516087}.; FUNCTION: Acts as a receptor for human cytomegalovirus (HCMV) to mediate viral entry and fusion in glioblastoma cells. {ECO:0000269|PubMed:37146061}. |
| 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 ZBTB17_EPHA2 |
| 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 |
| EPHA2 | P29317 | human | EPHA2 | P29317 | Y921 | ESIKMQQytEHFMAA | SAM_1 |
| EPHA2 | P29317 | human | EPHA2 | P29317 | Y575 | RQsPEDVyFsksEQL | EphA2_TM |
| EPHA2 | P29317 | human | EPHA2 | P29317 | Y694 | PMMIItEyMENGALD | PK_Tyr_Ser-Thr |
| EPHA2 | P29317 | human | EPHA2 | P29317 | Y628 | AGEFGEVykGMLKTS | PK_Tyr_Ser-Thr |
| EPHA2 | P29317 | human | GLO1 | Q04760 | Y136 | GIAVPDVysACkRFE | Glyoxalase |
| EPHA2 | P29317 | human | EPHA2 | P29317 | Y772 | EDDPEAtyttsGGkI | PK_Tyr_Ser-Thr |
| EPHA2 | P29317 | human | EPHA2 | P29317 | Y960 | GHQKRIAysLLGLKD | SAM_1 |
| EPHA2 | P29317 | human | EPHA2 | P29317 | Y588 | QLkPLktyVDPHtyE | EphA2_TM |
| EPHA2 | P29317 | human | CLDN4 | O14493 | Y208 | RsAAAsNyV______ | |
| EPHA2 | P29317 | human | EPHA2 | P29317 | Y594 | tyVDPHtyEDPNQAV | EphA2_TM |
| EPHA2 | P29317 | human | EPHA2 | P29317 | Y735 | kYLANMNyVHRDLAA | PK_Tyr_Ser-Thr |
| EPHA2 | P29317 | human | YES1 | P07947 | Y426 | 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 |
| EPHA2 | ID | Description | 0.00e+00 |
| EPHA2 | GO:0048013 | ephrin receptor signaling pathway | 4.69e-03 |
| EPHA2 | GO:0070830 | bicellular tight junction assembly | 4.69e-03 |
| EPHA2 | GO:0120192 | tight junction assembly | 4.69e-03 |
| EPHA2 | GO:0043297 | apical junction assembly | 4.69e-03 |
| EPHA2 | GO:0120193 | tight junction organization | 4.69e-03 |
| EPHA2 | GO:0030316 | osteoclast differentiation | 6.70e-03 |
| EPHA2 | GO:0007043 | cell-cell junction assembly | 1.26e-02 |
| EPHA2 | GO:0045216 | cell-cell junction organization | 2.04e-02 |
| EPHA2 | GO:0002573 | myeloid leukocyte differentiation | 2.19e-02 |
| EPHA2 | GO:0043588 | skin development | 3.57e-02 |
| EPHA2 | GO:1905050 | positive regulation of metallopeptidase activity | 3.83e-02 |
| EPHA2 | GO:1904238 | pericyte cell differentiation | 3.83e-02 |
| EPHA2 | GO:0008544 | epidermis development | 3.83e-02 |
| EPHA2 | GO:0070307 | lens fiber cell development | 3.83e-02 |
| EPHA2 | GO:0030099 | myeloid cell differentiation | 3.83e-02 |
| EPHA2 | GO:0034329 | cell junction assembly | 3.83e-02 |
| EPHA2 | GO:0001946 | lymphangiogenesis | 3.83e-02 |
| EPHA2 | GO:0030903 | notochord development | 3.83e-02 |
| EPHA2 | GO:0036342 | post-anal tail morphogenesis | 3.83e-02 |
| EPHA2 | GO:0060444 | branching involved in mammary gland duct morphogenesis | 3.83e-02 |
| EPHA2 | GO:0002089 | lens morphogenesis in camera-type eye | 3.83e-02 |
| EPHA2 | GO:2000810 | regulation of bicellular tight junction assembly | 3.83e-02 |
| EPHA2 | GO:0016338 | calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules | 3.83e-02 |
| EPHA2 | GO:0036120 | cellular response to platelet-derived growth factor stimulus | 3.83e-02 |
| EPHA2 | GO:0036303 | lymph vessel morphogenesis | 3.83e-02 |
| EPHA2 | GO:0046058 | cAMP metabolic process | 3.83e-02 |
| EPHA2 | GO:1905048 | regulation of metallopeptidase activity | 3.83e-02 |
| EPHA2 | GO:0036119 | response to platelet-derived growth factor | 3.83e-02 |
| EPHA2 | GO:0002433 | immune response-regulating cell surface receptor signaling pathway involved in phagocytosis | 3.83e-02 |
| EPHA2 | GO:0033598 | mammary gland epithelial cell proliferation | 3.83e-02 |
| EPHA2 | GO:0038096 | Fc-gamma receptor signaling pathway involved in phagocytosis | 3.83e-02 |
| EPHA2 | GO:0060603 | mammary gland duct morphogenesis | 3.97e-02 |
| EPHA2 | GO:0001945 | lymph vessel development | 3.97e-02 |
| EPHA2 | GO:0032682 | negative regulation of chemokine production | 3.97e-02 |
| EPHA2 | GO:0002431 | Fc receptor mediated stimulatory signaling pathway | 3.97e-02 |
| EPHA2 | GO:0002862 | negative regulation of inflammatory response to antigenic stimulus | 3.97e-02 |
| EPHA2 | GO:0038094 | Fc-gamma receptor signaling pathway | 3.97e-02 |
| EPHA2 | GO:0061436 | establishment of skin barrier | 3.97e-02 |
| EPHA2 | GO:0070293 | renal absorption | 3.98e-02 |
| EPHA2 | GO:0070306 | lens fiber cell differentiation | 4.22e-02 |
| EPHA2 | GO:0032570 | response to progesterone | 4.25e-02 |
| EPHA2 | GO:0052652 | cyclic purine nucleotide metabolic process | 4.25e-02 |
| EPHA2 | GO:0009187 | cyclic nucleotide metabolic process | 4.25e-02 |
| EPHA2 | GO:0010591 | regulation of lamellipodium assembly | 4.25e-02 |
| EPHA2 | GO:0060443 | mammary gland morphogenesis | 4.36e-02 |
| EPHA2 | GO:0002861 | regulation of inflammatory response to antigenic stimulus | 4.56e-02 |
| EPHA2 | GO:0031295 | T cell costimulation | 4.56e-02 |
| EPHA2 | GO:0033628 | regulation of cell adhesion mediated by integrin | 4.56e-02 |
| EPHA2 | GO:0031294 | lymphocyte costimulation | 4.56e-02 |
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Related Drugs to ZBTB17_EPHA2 |
| 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 ZBTB17-EPHA2 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 ZBTB17_EPHA2 |
| 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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