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Kinase Fusion Gene:ATP2A2_CDK18 |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: ATP2A2_CDK18 | KinaseFusionDB ID: KFG488 | FusionGDB2.0 ID: KFG488 | Hgene | Tgene | Gene symbol | ATP2A2 | CDK18 | Gene ID | 488 | 5129 | |
| Gene name | ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 | cyclin dependent kinase 18 | ||||||||||
| Synonyms | ATP2B|DAR|DD|SERCA2 | PCTAIRE|PCTAIRE3|PCTK3 | ||||||||||
| Cytomap | 12q24.11 | 1q32.1 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | sarcoplasmic/endoplasmic reticulum calcium ATPase 2ATPase Ca++ transporting cardiac muscle slow twitch 2ATPase, Ca++ dependent, slow-twitch, cardiac muscle-2SR Ca(2+)-ATPase 2calcium pump 2cardiac Ca2+ ATPaseendoplasmic reticulum class 1/2 Ca(2+) AT | cyclin-dependent kinase 18PCTAIRE protein kinase 3PCTAIRE-motif protein kinase 3cell division protein kinase 18serine/threonine-protein kinase PCTAIRE-3 | ||||||||||
| Modification date | 20240413 | 20240413 | ||||||||||
| UniProtAcc | P16615 | Q07002 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000308664, ENST00000395494, ENST00000539276, ENST00000550248, ENST00000552636, | ENST00000360066, ENST00000429964, ENST00000506784, ENST00000509056, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: ATP2A2 [Title/Abstract] AND CDK18 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | ATP2A2(110692858)-CDK18(205477280), # 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 | ATP2A2 | GO:0000045 | autophagosome assembly | 28890335 |
| Hgene | ATP2A2 | GO:0016240 | autophagosome membrane docking | 28890335 |
| Hgene | ATP2A2 | GO:0032469 | endoplasmic reticulum calcium ion homeostasis | 16402920 |
| Hgene | ATP2A2 | GO:0032470 | positive regulation of endoplasmic reticulum calcium ion concentration | 16402920 |
| Hgene | ATP2A2 | GO:0070588 | calcium ion transmembrane transport | 16402920|28890335 |
| Hgene | ATP2A2 | GO:0086036 | regulation of cardiac muscle cell membrane potential | 16402920 |
| Hgene | ATP2A2 | GO:0140056 | organelle localization by membrane tethering | 28890335 |
| Hgene | ATP2A2 | GO:1903515 | calcium ion transport from cytosol to endoplasmic reticulum | 16402920 |
| Hgene | ATP2A2 | GO:1990036 | calcium ion import into sarcoplasmic reticulum | 16402920 |
| Hgene | ATP2A2 | GO:1990456 | mitochondrion-endoplasmic reticulum membrane tethering | 28890335 |
| Tgene | CDK18 | GO:0031643 | positive regulation of myelination | 31028571 |
| Kinase Fusion gene breakpoints across ATP2A2 (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 CDK18 (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 |
| ChiTaRS5.0 | AW818544 | ATP2A2 | chr12 | 110692858 | CDK18 | chr1 | 205477280 |
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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/:110692858/:205477280) - 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 |
| ATP2A2 | CDK18 |
| FUNCTION: This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen (PubMed:16402920, PubMed:12542527). Involved in autophagy in response to starvation. Upon interaction with VMP1 and activation, controls ER-isolation membrane contacts for autophagosome formation (PubMed:28890335). Also modulates ER contacts with lipid droplets, mitochondria and endosomes (PubMed:28890335). In coordination with FLVCR2 mediates heme-stimulated switching from mitochondrial ATP synthesis to thermogenesis (By similarity). {ECO:0000250|UniProtKB:O55143, ECO:0000269|PubMed:12542527, ECO:0000269|PubMed:16402920, ECO:0000269|PubMed:28890335}.; FUNCTION: [Isoform 2]: Involved in the regulation of the contraction/relaxation cycle. Acts as a regulator of TNFSF11-mediated Ca(2+) signaling pathways via its interaction with TMEM64 which is critical for the TNFSF11-induced CREB1 activation and mitochondrial ROS generation necessary for proper osteoclast generation. Association between TMEM64 and SERCA2 in the ER leads to cytosolic Ca(2+) spiking for activation of NFATC1 and production of mitochondrial ROS, thereby triggering Ca(2+) signaling cascades that promote osteoclast differentiation and activation. {ECO:0000250|UniProtKB:O55143}. | FUNCTION: May play a role in signal transduction cascades in terminally differentiated cells. |
| 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 ATP2A2_CDK18 |
| 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 |
| CDK18 | Q07002 | human | RB1 | P06400 | S795 | sPykFPssPLrIPGG | Rb_C |
| CDK18 | Q07002 | human | RB1 | P06400 | S807 | PGGNIyIsPLksPyk | Rb_C |
| CDK18 | Q07002 | human | RB1 | P06400 | S811 | IyIsPLksPykIsEG | Rb_C |
| 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 |
| CDK18 | ID | Description | 0.00e+00 |
| CDK18 | GO:0043353 | enucleate erythrocyte differentiation | 1.36e-02 |
| CDK18 | GO:1903943 | regulation of hepatocyte apoptotic process | 1.36e-02 |
| CDK18 | GO:1904760 | regulation of myofibroblast differentiation | 1.36e-02 |
| CDK18 | GO:0034086 | maintenance of sister chromatid cohesion | 1.36e-02 |
| CDK18 | GO:0034088 | maintenance of mitotic sister chromatid cohesion | 1.36e-02 |
| CDK18 | GO:1902947 | regulation of tau-protein kinase activity | 1.36e-02 |
| CDK18 | GO:0045842 | positive regulation of mitotic metaphase/anaphase transition | 1.36e-02 |
| CDK18 | GO:0036446 | myofibroblast differentiation | 1.36e-02 |
| CDK18 | GO:1902101 | positive regulation of metaphase/anaphase transition of cell cycle | 1.36e-02 |
| CDK18 | GO:0034349 | glial cell apoptotic process | 1.36e-02 |
| CDK18 | GO:0045651 | positive regulation of macrophage differentiation | 1.36e-02 |
| CDK18 | GO:0060253 | negative regulation of glial cell proliferation | 1.36e-02 |
| CDK18 | GO:1901970 | positive regulation of mitotic sister chromatid separation | 1.36e-02 |
| CDK18 | GO:0097284 | hepatocyte apoptotic process | 1.36e-02 |
| CDK18 | GO:0000083 | regulation of transcription involved in G1/S transition of mitotic cell cycle | 1.36e-02 |
| CDK18 | GO:2000679 | positive regulation of transcription regulatory region DNA binding | 1.36e-02 |
| CDK18 | GO:0045649 | regulation of macrophage differentiation | 1.38e-02 |
| CDK18 | GO:1903055 | positive regulation of extracellular matrix organization | 1.38e-02 |
| CDK18 | GO:1905820 | positive regulation of chromosome separation | 1.38e-02 |
| CDK18 | GO:0034508 | centromere complex assembly | 1.38e-02 |
| CDK18 | GO:0007064 | mitotic sister chromatid cohesion | 1.38e-02 |
| CDK18 | GO:0045879 | negative regulation of smoothened signaling pathway | 1.38e-02 |
| CDK18 | GO:0003180 | aortic valve morphogenesis | 1.38e-02 |
| CDK18 | GO:0043550 | regulation of lipid kinase activity | 1.38e-02 |
| CDK18 | GO:0071459 | protein localization to chromosom | 2.12e-03 |
| CDK18 | GO:0043388 | positive regulation of DNA binding | 1.38e-02 |
| CDK18 | GO:0060251 | regulation of glial cell proliferation | 1.38e-02 |
| CDK18 | GO:0003176 | aortic valve development | 1.38e-02 |
| CDK18 | GO:0045840 | positive regulation of mitotic nuclear division | 1.38e-02 |
| CDK18 | GO:0014014 | negative regulation of gliogenesis | 1.38e-02 |
| CDK18 | GO:0120163 | negative regulation of cold-induced thermogenesis | 1.38e-02 |
| CDK18 | GO:1905314 | semi-lunar valve development | 1.38e-02 |
| CDK18 | GO:0042551 | neuron maturation | 1.38e-02 |
| CDK18 | GO:0008608 | attachment of spindle microtubules to kinetochore | 1.38e-02 |
| CDK18 | GO:0007062 | sister chromatid cohesion | 1.39e-02 |
| CDK18 | GO:0010965 | regulation of mitotic sister chromatid separation | 1.39e-02 |
| CDK18 | GO:0014009 | glial cell proliferation | 1.39e-02 |
| CDK18 | GO:0002763 | positive regulation of myeloid leukocyte differentiation | 1.39e-02 |
| CDK18 | GO:0051785 | positive regulation of nuclear division | 1.39e-02 |
| CDK18 | GO:0003179 | heart valve morphogenesis | 1.39e-02 |
| CDK18 | GO:0051306 | mitotic sister chromatid separation | 1.39e-02 |
| CDK18 | GO:1903053 | regulation of extracellular matrix organization | 1.39e-02 |
| CDK18 | GO:0030225 | macrophage differentiation | 1.39e-02 |
| CDK18 | GO:1904036 | negative regulation of epithelial cell apoptotic process | 1.39e-02 |
| CDK18 | GO:0030199 | collagen fibril organization | 1.39e-02 |
| CDK18 | GO:0003170 | heart valve development | 1.49e-02 |
| CDK18 | GO:0035914 | skeletal muscle cell differentiation | 1.49e-02 |
| CDK18 | GO:1905818 | regulation of chromosome separation | 1.49e-02 |
| CDK18 | GO:0051304 | chromosome separation | 1.56e-02 |
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Related Drugs to ATP2A2_CDK18 |
| 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 ATP2A2-CDK18 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 ATP2A2_CDK18 |
| 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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