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Kinase Fusion Gene:ACER2_TEK |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: ACER2_TEK | KinaseFusionDB ID: KFG110 | FusionGDB2.0 ID: KFG110 | Hgene | Tgene | Gene symbol | ACER2 | TEK | Gene ID | 340485 | 7010 | |
| Gene name | alkaline ceramidase 2 | TEK receptor tyrosine kinase | ||||||||||
| Synonyms | ALKCDase2|ASAH3L | CD202B|GLC3E|TIE-2|TIE2|VMCM|VMCM1 | ||||||||||
| Cytomap | 9p22.1 | 9p21.2 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | alkaline ceramidase 2alkCDase 2alkaline CDase 2ceramide hydrolasehaCER2 | angiopoietin-1 receptorTEK tyrosine kinase, endothelialendothelial tyrosine kinasetunica interna endothelial cell kinasetyrosine kinase with Ig and EGF homology domains-2tyrosine-protein kinase receptor TEKtyrosine-protein kinase receptor TIE-2 | ||||||||||
| Modification date | 20240411 | 20240411 | ||||||||||
| UniProtAcc | Q5QJU3 | Q96M29 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000380376, ENST00000340967, | ENST00000519097, ENST00000380036, ENST00000406359, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: ACER2 [Title/Abstract] AND TEK [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | ||||||||||||
| 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 | ACER2 | GO:0001953 | negative regulation of cell-matrix adhesion | 18945876 |
| Hgene | ACER2 | GO:0006974 | DNA damage response | 26943039 |
| Hgene | ACER2 | GO:0008284 | positive regulation of cell population proliferation | 16940153 |
| Hgene | ACER2 | GO:0032526 | response to retinoic acid | 18945876 |
| Hgene | ACER2 | GO:0033629 | negative regulation of cell adhesion mediated by integrin | 18945876 |
| Hgene | ACER2 | GO:0046512 | sphingosine biosynthetic process | 16940153|20089856|20628055 |
| Tgene | TEK | GO:0007169 | cell surface receptor protein tyrosine kinase signaling pathway | 15284220 |
| Tgene | TEK | GO:0010595 | positive regulation of endothelial cell migration | 15284220 |
| Tgene | TEK | GO:0045766 | positive regulation of angiogenesis | 15284220 |
| Tgene | TEK | GO:0048014 | Tie signaling pathway | 15284220|19223473 |
| Tgene | TEK | GO:0051897 | positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction | 19615361 |
| Tgene | TEK | GO:0070374 | positive regulation of ERK1 and ERK2 cascade | 19615361 |
| Kinase Fusion gene breakpoints across ACER2 (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 TEK (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 |
| CCLE | MSTO-211H | ACER2 | chr9 | 19424839 | TEK | chr9 | 27172614 |
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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/:/:) - 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 |
| ACER2 | TEK |
| FUNCTION: Golgi ceramidase that catalyzes the hydrolysis of ceramides into sphingoid bases like sphingosine and free fatty acids at alkaline pH (PubMed:16940153, PubMed:18945876, PubMed:20207939, PubMed:20089856). Ceramides, sphingosine, and its phosphorylated form sphingosine-1-phosphate are bioactive lipids that mediate cellular signaling pathways regulating several biological processes including cell proliferation, apoptosis and differentiation (PubMed:20207939). Has a better catalytic efficiency towards unsaturated long-chain ceramides, including C18:1-, C20:1- and C24:1-ceramides (PubMed:16940153, PubMed:18945876, PubMed:20207939, PubMed:20089856). Saturated long-chain ceramides and unsaturated very long-chain ceramides are also good substrates, whereas saturated very long-chain ceramides and short-chain ceramides are poor substrates (PubMed:20089856). Also hydrolyzes dihydroceramides to produce dihydrosphingosine (PubMed:20207939, PubMed:20628055). It is the ceramidase that controls the levels of circulating sphingosine-1-phosphate and dihydrosphingosine-1-phosphate in plasma through their production by hematopoietic cells (By similarity). Regulates cell proliferation, autophagy and apoptosis by the production of sphingosine and sphingosine-1-phosphate (PubMed:16940153, PubMed:26943039, PubMed:28294157, PubMed:29229990). As part of a p53/TP53-dependent pathway, promotes for instance autophagy and apoptosis in response to DNA damage (PubMed:26943039, PubMed:28294157, PubMed:29229990). Through the production of sphingosine, may also regulate the function of the Golgi complex and regulate the glycosylation of proteins (PubMed:18945876). {ECO:0000250|UniProtKB:Q8VD53, ECO:0000269|PubMed:16940153, ECO:0000269|PubMed:18945876, ECO:0000269|PubMed:20089856, ECO:0000269|PubMed:20207939, ECO:0000269|PubMed:20628055, ECO:0000269|PubMed:26943039, ECO:0000269|PubMed:28294157, ECO:0000269|PubMed:29229990, ECO:0000303|PubMed:20207939}. | FUNCTION: May be a structural component of the sperm flagellum. {ECO:0000250|UniProtKB:G5E8A8}. |
| 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 ACER2_TEK |
| 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 |
| TEK | Q02763 | human | TEK | Q02763 | Y992 | LSRGQEVyVKKtMGR | PK_Tyr_Ser-Thr |
| TEK | Q02763 | human | TEK | Q02763 | Y1108 | TyVNTTLyEKFTyAG |
| 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 |
| TEK | ID | Description | 0.00e+00 |
| TEK | GO:0060347 | heart trabecula formation | 1.25e-02 |
| TEK | GO:0060216 | definitive hemopoiesis | 1.25e-02 |
| TEK | GO:0043552 | positive regulation of phosphatidylinositol 3-kinase activity | 1.25e-02 |
| TEK | GO:0051894 | positive regulation of focal adhesion assembly | 1.25e-02 |
| TEK | GO:0060343 | trabecula formation | 1.25e-02 |
| TEK | GO:0090218 | positive regulation of lipid kinase activity | 1.25e-02 |
| TEK | GO:0032878 | regulation of establishment or maintenance of cell polarity | 1.25e-02 |
| TEK | GO:0072012 | glomerulus vasculature development | 1.25e-02 |
| TEK | GO:0061437 | renal system vasculature development | 1.25e-02 |
| TEK | GO:0061440 | kidney vasculature development | 1.25e-02 |
| TEK | GO:0150117 | positive regulation of cell-substrate junction organization | 1.25e-02 |
| TEK | GO:0001958 | endochondral ossification | 1.25e-02 |
| TEK | GO:0036075 | replacement ossification | 1.25e-02 |
| TEK | GO:0061384 | heart trabecula morphogenesis | 1.25e-02 |
| TEK | GO:2000352 | negative regulation of endothelial cell apoptotic process | 1.31e-02 |
| TEK | GO:0043550 | regulation of lipid kinase activity | 1.33e-02 |
| TEK | GO:0061383 | trabecula morphogenesis | 1.35e-02 |
| TEK | GO:0043114 | regulation of vascular permeability | 1.35e-02 |
| TEK | GO:0001954 | positive regulation of cell-matrix adhesion | 1.35e-02 |
| TEK | GO:0060350 | endochondral bone morphogenesis | 1.35e-02 |
| TEK | GO:2000351 | regulation of endothelial cell apoptotic process | 1.35e-02 |
| TEK | GO:0051893 | regulation of focal adhesion assembly | 1.35e-02 |
| TEK | GO:0090109 | regulation of cell-substrate junction assembly | 1.35e-02 |
| TEK | GO:1904036 | negative regulation of epithelial cell apoptotic process | 1.35e-02 |
| TEK | GO:0072577 | endothelial cell apoptotic process | 1.35e-02 |
| TEK | GO:0150116 | regulation of cell-substrate junction organization | 1.35e-02 |
| TEK | GO:0032835 | glomerulus development | 1.35e-02 |
| TEK | GO:0043627 | response to estrogen | 1.35e-02 |
| TEK | GO:0048041 | focal adhesion assembly | 1.55e-02 |
| TEK | GO:0051591 | response to cAMP | 1.55e-02 |
| TEK | GO:0007044 | cell-substrate junction assembly | 1.64e-02 |
| TEK | GO:0034446 | substrate adhesion-dependent cell spreading | 1.64e-02 |
| TEK | GO:0060349 | bone morphogenesis | 1.64e-02 |
| TEK | GO:0150115 | cell-substrate junction organization | 1.64e-02 |
| TEK | GO:1901890 | positive regulation of cell junction assembly | 1.65e-02 |
| TEK | GO:0001938 | positive regulation of endothelial cell proliferation | 1.67e-02 |
| TEK | GO:1904035 | regulation of epithelial cell apoptotic process | 1.67e-02 |
| TEK | GO:0010811 | positive regulation of cell-substrate adhesion | 1.69e-02 |
| TEK | GO:0001952 | regulation of cell-matrix adhesion | 1.69e-02 |
| TEK | GO:0003206 | cardiac chamber morphogenesis | 1.69e-02 |
| TEK | GO:0046683 | response to organophosphorus | 1.69e-02 |
| TEK | GO:0010595 | positive regulation of endothelial cell migration | 1.69e-02 |
| TEK | GO:0014074 | response to purine-containing compound | 1.74e-02 |
| TEK | GO:1904019 | epithelial cell apoptotic process | 1.74e-02 |
| TEK | GO:0045834 | positive regulation of lipid metabolic process | 1.74e-02 |
| TEK | GO:0016525 | negative regulation of angiogenesis | 1.74e-02 |
| TEK | GO:2000181 | negative regulation of blood vessel morphogenesis | 1.74e-02 |
| TEK | GO:1901343 | negative regulation of vasculature development | 1.74e-02 |
| TEK | GO:0072006 | nephron development | 1.74e-02 |
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Related Drugs to ACER2_TEK |
| 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 ACER2-TEK 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 ACER2_TEK |
| 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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