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Kinase Fusion Gene:PTK2_ANGPT1 |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: PTK2_ANGPT1 | KinaseFusionDB ID: KFG5120 | FusionGDB2.0 ID: KFG5120 | Hgene | Tgene | Gene symbol | PTK2 | ANGPT1 | Gene ID | 5747 | 284 | |
| Gene name | protein tyrosine kinase 2 | angiopoietin 1 | ||||||||||
| Synonyms | FADK|FADK 1|FAK|FAK1|FRNK|PPP1R71|p125FAK|pp125FAK | AGP1|AGPT|AGPT-1|ANG1|HAE5 | ||||||||||
| Cytomap | 8q24.3 | 8q23.1 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | focal adhesion kinase 1FAK-related non-kinase polypeptidePTK2 protein tyrosine kinase 2focal adhesion kinase-related nonkinaseprotein phosphatase 1 regulatory subunit 71 | angiopoietin-1ANG-1 | ||||||||||
| Modification date | 20240411 | 20240305 | ||||||||||
| UniProtAcc | Q14289 | Q15389 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000340930, ENST00000395218, ENST00000519881, ENST00000521059, ENST00000522684, ENST00000430260, ENST00000517712, ENST00000517887, ENST00000519419, ENST00000519465, ENST00000519635, ENST00000520151, ENST00000520892, ENST00000522950, ENST00000535192, ENST00000538769, | ENST00000518386, ENST00000520052, ENST00000520734, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: PTK2 [Title/Abstract] AND ANGPT1 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | PTK2(142011224)-ANGPT1(108509734), # samples:2 | |||||||||||
| 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 | PTK2 | GO:0007179 | transforming growth factor beta receptor signaling pathway | 24036928 |
| Hgene | PTK2 | GO:0007229 | integrin-mediated signaling pathway | 24036928 |
| Hgene | PTK2 | GO:0010763 | positive regulation of fibroblast migration | 26763945 |
| Hgene | PTK2 | GO:0018108 | peptidyl-tyrosine phosphorylation | 10655584|11331870 |
| Hgene | PTK2 | GO:0022408 | negative regulation of cell-cell adhesion | 21703394 |
| Hgene | PTK2 | GO:0030335 | positive regulation of cell migration | 11331870|21703394 |
| Hgene | PTK2 | GO:0033628 | regulation of cell adhesion mediated by integrin | 10655584 |
| Hgene | PTK2 | GO:0046777 | protein autophosphorylation | 10655584|11331870 |
| Hgene | PTK2 | GO:0048013 | ephrin receptor signaling pathway | 10655584 |
| Hgene | PTK2 | GO:0060396 | growth hormone receptor signaling pathway | 10925297 |
| Hgene | PTK2 | GO:0090303 | positive regulation of wound healing | 26763945 |
| Tgene | ANGPT1 | GO:0001936 | regulation of endothelial cell proliferation | 8980223 |
| Tgene | ANGPT1 | GO:0002040 | sprouting angiogenesis | 9560344|10218485 |
| Tgene | ANGPT1 | GO:0002092 | positive regulation of receptor internalization | 19424712 |
| Tgene | ANGPT1 | GO:0007162 | negative regulation of cell adhesion | 19674970 |
| Tgene | ANGPT1 | GO:0007171 | activation of transmembrane receptor protein tyrosine kinase activity | 19424712 |
| Tgene | ANGPT1 | GO:0010595 | positive regulation of endothelial cell migration | 12958144 |
| Tgene | ANGPT1 | GO:0014842 | regulation of skeletal muscle satellite cell proliferation | 19733541 |
| Tgene | ANGPT1 | GO:0030210 | heparin biosynthetic process | 19297368 |
| Tgene | ANGPT1 | GO:0031398 | positive regulation of protein ubiquitination | 19689429 |
| Tgene | ANGPT1 | GO:0034394 | protein localization to cell surface | 19615361 |
| Tgene | ANGPT1 | GO:0043066 | negative regulation of apoptotic process | 10218485|12958144 |
| Tgene | ANGPT1 | GO:0043116 | negative regulation of vascular permeability | 14978158|19297368 |
| Tgene | ANGPT1 | GO:0043536 | positive regulation of blood vessel endothelial cell migration | 9660821 |
| Tgene | ANGPT1 | GO:0048014 | Tie signaling pathway | 19689429|19922791 |
| Tgene | ANGPT1 | GO:0050731 | positive regulation of peptidyl-tyrosine phosphorylation | 15851516|19689429 |
| Tgene | ANGPT1 | GO:0050918 | positive chemotaxis | 9660821 |
| Tgene | ANGPT1 | GO:0051897 | positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction | 18425120 |
| Tgene | ANGPT1 | GO:0051897 | positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction | 19615361 |
| Tgene | ANGPT1 | GO:0070374 | positive regulation of ERK1 and ERK2 cascade | 18425120 |
| Tgene | ANGPT1 | GO:0070374 | positive regulation of ERK1 and ERK2 cascade | 19615361 |
| Tgene | ANGPT1 | GO:2000352 | negative regulation of endothelial cell apoptotic process | 19674970 |
| Kinase Fusion gene breakpoints across PTK2 (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 ANGPT1 (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-MP-A4SV-01A | PTK2 | chr8 | 142011224 | ANGPT1 | chr8 | 108509734 |
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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/:142011224/:108509734) - 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 |
| PTK2 | ANGPT1 |
| FUNCTION: Non-receptor protein-tyrosine kinase that regulates reorganization of the actin cytoskeleton, cell polarization, cell migration, adhesion, spreading and bone remodeling. Plays a role in the regulation of the humoral immune response, and is required for normal levels of marginal B-cells in the spleen and normal migration of splenic B-cells. Required for normal macrophage polarization and migration towards sites of inflammation. Regulates cytoskeleton rearrangement and cell spreading in T-cells, and contributes to the regulation of T-cell responses. Promotes osteoclastic bone resorption; this requires both PTK2B/PYK2 and SRC. May inhibit differentiation and activity of osteoprogenitor cells. Functions in signaling downstream of integrin and collagen receptors, immune receptors, G-protein coupled receptors (GPCR), cytokine, chemokine and growth factor receptors, and mediates responses to cellular stress. Forms multisubunit signaling complexes with SRC and SRC family members upon activation; this leads to the phosphorylation of additional tyrosine residues, creating binding sites for scaffold proteins, effectors and substrates. Regulates numerous signaling pathways. Promotes activation of phosphatidylinositol 3-kinase and of the AKT1 signaling cascade. Promotes activation of NOS3. Regulates production of the cellular messenger cGMP. Promotes activation of the MAP kinase signaling cascade, including activation of MAPK1/ERK2, MAPK3/ERK1 and MAPK8/JNK1. Promotes activation of Rho family GTPases, such as RHOA and RAC1. Recruits the ubiquitin ligase MDM2 to P53/TP53 in the nucleus, and thereby regulates P53/TP53 activity, P53/TP53 ubiquitination and proteasomal degradation. Acts as a scaffold, binding to both PDPK1 and SRC, thereby allowing SRC to phosphorylate PDPK1 at 'Tyr-9, 'Tyr-373', and 'Tyr-376'. Promotes phosphorylation of NMDA receptors by SRC family members, and thereby contributes to the regulation of NMDA receptor ion channel activity and intracellular Ca(2+) levels. May also regulate potassium ion transport by phosphorylation of potassium channel subunits. Phosphorylates SRC; this increases SRC kinase activity. Phosphorylates ASAP1, NPHP1, KCNA2 and SHC1. Promotes phosphorylation of ASAP2, RHOU and PXN; this requires both SRC and PTK2/PYK2. {ECO:0000269|PubMed:10022920, ECO:0000269|PubMed:12771146, ECO:0000269|PubMed:12893833, ECO:0000269|PubMed:14585963, ECO:0000269|PubMed:15050747, ECO:0000269|PubMed:15166227, ECO:0000269|PubMed:17634955, ECO:0000269|PubMed:18086875, ECO:0000269|PubMed:18339875, ECO:0000269|PubMed:18587400, ECO:0000269|PubMed:18765415, ECO:0000269|PubMed:19086031, ECO:0000269|PubMed:19207108, ECO:0000269|PubMed:19244237, ECO:0000269|PubMed:19428251, ECO:0000269|PubMed:19648005, ECO:0000269|PubMed:19880522, ECO:0000269|PubMed:20001213, ECO:0000269|PubMed:20381867, ECO:0000269|PubMed:20521079, ECO:0000269|PubMed:21357692, ECO:0000269|PubMed:21533080, ECO:0000269|PubMed:7544443, ECO:0000269|PubMed:8670418, ECO:0000269|PubMed:8849729}. | FUNCTION: Binds and activates TEK/TIE2 receptor by inducing its dimerization and tyrosine phosphorylation. Plays an important role in the regulation of angiogenesis, endothelial cell survival, proliferation, migration, adhesion and cell spreading, reorganization of the actin cytoskeleton, but also maintenance of vascular quiescence. Required for normal angiogenesis and heart development during embryogenesis. After birth, activates or inhibits angiogenesis, depending on the context. Inhibits angiogenesis and promotes vascular stability in quiescent vessels, where endothelial cells have tight contacts. In quiescent vessels, ANGPT1 oligomers recruit TEK to cell-cell contacts, forming complexes with TEK molecules from adjoining cells, and this leads to preferential activation of phosphatidylinositol 3-kinase and the AKT1 signaling cascades. In migrating endothelial cells that lack cell-cell adhesions, ANGT1 recruits TEK to contacts with the extracellular matrix, leading to the formation of focal adhesion complexes, activation of PTK2/FAK and of the downstream kinases MAPK1/ERK2 and MAPK3/ERK1, and ultimately to the stimulation of sprouting angiogenesis. Mediates blood vessel maturation/stability. Implicated in endothelial developmental processes later and distinct from that of VEGF. Appears to play a crucial role in mediating reciprocal interactions between the endothelium and surrounding matrix and mesenchyme. {ECO:0000269|PubMed:15284220, ECO:0000269|PubMed:18425119, ECO:0000269|PubMed:18425120, ECO:0000269|PubMed:30689269, ECO:0000269|PubMed:9204896}. |
| 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 PTK2_ANGPT1 |
| 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 |
| PTK2 | Q05397 | human | CDCP1 | Q9H5V8 | Y734 | KDNDsHVyAVIEDTM | |
| PTK2 | Q05397 | human | PIK3R2 | O00459 | Y464 | sREyDQLyEEytRTS | PI3K_P85_iSH2 |
| PTK2 | Q05397 | human | CTNNB1 | P35222 | Y142 | AVVNLINyQDDAELA | |
| PTK2 | Q05397 | human | ITGB7 | P26010 | Y753 | YRLSVEIyDRREySR | Integrin_b_cyt |
| PTK2 | Q05397 | human | NANOG | Q9H9S0 | Y35 | ICGPEENyPSLQMSS | |
| PTK2 | Q05397 | human | BECN1 | Q14457 | Y233 | EAQyQREysEFkRQQ | APG6_N |
| PTK2 | Q05397 | human | ACTN1 | P12814 | Y12 | DsQQtNDyMQPEEDW | |
| PTK2 | Q05397 | human | PXN | P49023 | Y118 | VGEEEHVysFPNkQk | Paxillin |
| PTK2 | Q05397 | human | BCAR1 | P56945 | Y165 | PSPATDLyQVPPGPG | |
| PTK2 | Q05397 | human | AKT1 | P31749 | S473 | RPHFPQFsysAsGtA | Pkinase_C |
| PTK2 | Q05397 | human | LAT | O43561-2 | Y171 | SMESIDDyVNVPESG | LAT |
| PTK2 | Q05397 | human | PTK2 | Q05397 | Y577 | yMEDstyyKAsKGKL | PK_Tyr_Ser-Thr |
| PTK2 | Q05397 | human | GIT1 | Q9Y2X7 | Y321 | FLPVNPEySATRNQG | |
| PTK2 | Q05397 | human | ATP2B4 | P23634-6 | Y1176 | LDGEVTPyANTNNNA | |
| PTK2 | Q05397 | human | PTK2 | Q05397 | Y407 | IIDEEDtytMPSTRD | |
| PTK2 | Q05397 | human | TRIO | O75962 | Y2796 | KDNFDsFySEVAELG | Pkinase |
| PTK2 | Q05397 | human | BCAR1 | P56945 | Y410 | GVVDsGVyAVPPPAE | |
| PTK2 | Q05397 | human | GRB7 | Q14451 | Y338 | AAFRLFKyGVQLyKN | PH |
| PTK2 | Q05397 | human | ITGB7 | P26010 | Y758 | EIyDRREySRFEkEQ | Integrin_b_cyt |
| PTK2 | Q05397 | human | HDAC5 | Q9UQL6 | Y642 | PLQPLQVyQAPLSLA | |
| PTK2 | Q05397 | human | CLDN11 | O75508 | Y191 | AFGENRFyyTAGsss | |
| PTK2 | Q05397 | human | PTK2 | Q05397 | Y397 | sVsEtDDyAEIIDEE | |
| PTK2 | Q05397 | human | SH3GL1 | Q99961 | Y315 | QPSCKALyDFEPEND | SH3_1 |
| PTK2 | Q05397 | human | RAC1 | P63000 | Y64 | DTAGQEDyDRLRPLs | Ras |
| PTK2 | Q05397 | human | CLDN11 | O75508 | Y192 | FGENRFyyTAGsssP | |
| PTK2 | Q05397 | human | RET | P07949 | Y905 | DVyEEDsyVKRsQGR | PK_Tyr_Ser-Thr |
| PTK2 | Q05397 | human | PTK2 | Q05397 | Y576 | RyMEDstyyKAsKGK | PK_Tyr_Ser-Thr |
| PTK2 | Q05397 | human | GRB7 | Q14451 | Y188 | FRKNFAKyELFKssP | |
| PTK2 | Q05397 | human | NANOG | Q9H9S0 | Y174 | QKASAPTyPSLYSSY |
| 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 |
| PTK2 | ID | Description | 0.00e+00 |
| PTK2 | GO:0001667 | ameboidal-type cell migration | 1.07e-06 |
| PTK2 | GO:0043542 | endothelial cell migration | 7.77e-06 |
| PTK2 | GO:0010631 | epithelial cell migration | 2.29e-05 |
| PTK2 | GO:0090132 | epithelium migration | 2.29e-05 |
| PTK2 | GO:0090130 | tissue migration | 2.29e-05 |
| PTK2 | GO:0010594 | regulation of endothelial cell migration | 2.57e-05 |
| PTK2 | GO:0010632 | regulation of epithelial cell migration | 9.32e-05 |
| PTK2 | GO:0071375 | cellular response to peptide hormone stimulus | 1.09e-04 |
| PTK2 | GO:0031589 | cell-substrate adhesion | 2.17e-04 |
| PTK2 | GO:1901653 | cellular response to peptide | 2.60e-04 |
| PTK2 | GO:0051347 | positive regulation of transferase activity | 4.09e-04 |
| PTK2 | GO:0034446 | substrate adhesion-dependent cell spreading | 4.09e-04 |
| PTK2 | GO:0043434 | response to peptide hormone | 4.29e-04 |
| PTK2 | GO:0007160 | cell-matrix adhesion | 4.29e-04 |
| PTK2 | GO:0007173 | epidermal growth factor receptor signaling pathway | 4.29e-04 |
| PTK2 | GO:0007229 | integrin-mediated signaling pathway | 4.66e-04 |
| PTK2 | GO:0038127 | ERBB signaling pathway | 6.79e-04 |
| PTK2 | GO:0060416 | response to growth hormone | 6.79e-04 |
| PTK2 | GO:0010762 | regulation of fibroblast migration | 6.97e-04 |
| PTK2 | GO:0043491 | phosphatidylinositol 3-kinase/protein kinase B signal transduction | 7.75e-04 |
| PTK2 | GO:0033674 | positive regulation of kinase activity | 1.47e-03 |
| PTK2 | GO:0051017 | actin filament bundle assembly | 1.47e-03 |
| PTK2 | GO:0010761 | fibroblast migration | 1.49e-03 |
| PTK2 | GO:0061572 | actin filament bundle organization | 1.49e-03 |
| PTK2 | GO:0045428 | regulation of nitric oxide biosynthetic process | 1.77e-03 |
| PTK2 | GO:0010634 | positive regulation of epithelial cell migration | 1.77e-03 |
| PTK2 | GO:0080164 | regulation of nitric oxide metabolic process | 1.81e-03 |
| PTK2 | GO:0050900 | leukocyte migration | 2.47e-03 |
| PTK2 | GO:0032869 | cellular response to insulin stimulus | 2.84e-03 |
| PTK2 | GO:0071674 | mononuclear cell migration | 2.84e-03 |
| PTK2 | GO:0006809 | nitric oxide biosynthetic process | 2.84e-03 |
| PTK2 | GO:0048012 | hepatocyte growth factor receptor signaling pathway | 3.19e-03 |
| PTK2 | GO:0046209 | nitric oxide metabolic process | 3.25e-03 |
| PTK2 | GO:2001057 | reactive nitrogen species metabolic process | 3.28e-03 |
| PTK2 | GO:0034329 | cell junction assembly | 3.47e-03 |
| PTK2 | GO:0007411 | axon guidance | 3.65e-03 |
| PTK2 | GO:0097485 | neuron projection guidance | 3.65e-03 |
| PTK2 | GO:0048041 | focal adhesion assembly | 3.65e-03 |
| PTK2 | GO:0007015 | actin filament organization | 3.68e-03 |
| PTK2 | GO:0033627 | cell adhesion mediated by integrin | 3.68e-03 |
| PTK2 | GO:0001711 | endodermal cell fate commitment | 3.68e-03 |
| PTK2 | GO:0003376 | sphingosine-1-phosphate receptor signaling pathway | 3.68e-03 |
| PTK2 | GO:0010763 | positive regulation of fibroblast migration | 3.68e-03 |
| PTK2 | GO:0043652 | engulfment of apoptotic cell | 3.68e-03 |
| PTK2 | GO:0051492 | regulation of stress fiber assembly | 4.16e-03 |
| PTK2 | GO:0007044 | cell-substrate junction assembly | 4.20e-03 |
| PTK2 | GO:0090520 | sphingolipid mediated signaling pathway | 4.86e-03 |
| PTK2 | GO:0032868 | response to insulin | 4.86e-03 |
| PTK2 | GO:0150115 | cell-substrate junction organization | 4.86e-03 |
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Related Drugs to PTK2_ANGPT1 |
| 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 PTK2-ANGPT1 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 PTK2_ANGPT1 |
| 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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