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Kinase Fusion Gene:TAOK2_ABCA4 |
Kinase Fusion Protein Summary |
Kinase Fusion gene summary |
Kinase Fusion partner gene information | Kinase Fusion gene name: TAOK2_ABCA4 | KinaseFusionDB ID: KFG6401 | FusionGDB2.0 ID: KFG6401 | Hgene | Tgene | Gene symbol | TAOK2 | ABCA4 | Gene ID | 9344 | 24 | |
Gene name | TAO kinase 2 | ATP binding cassette subfamily A member 4 | ||||||||||
Synonyms | MAP3K17|PSK|PSK1|PSK1-BETA|TAO1|TAO2|Tao2beta | ABC10|ABCR|ARMD2|CORD3|FFM|RMP|RP19|STGD|STGD1 | ||||||||||
Cytomap | 16p11.2 | 1p22.1 | ||||||||||
Type of gene | protein-coding | protein-coding | ||||||||||
Description | serine/threonine-protein kinase TAO2PSK-1hKFC-Ckinase from chicken homolog Cprostate derived STE20-like kinase PSKprostate-derived STE20-like kinase 1prostate-derived sterile 20-like kinase 1thousand and one amino acid protein kinase 2 | retinal-specific phospholipid-transporting ATPase ABCA4ATP binding cassette transporterATP-binding cassette sub-family A member 4ATP-binding cassette transporter, retinal-specificATP-binding cassette, sub-family A (ABC1), member 4ATP-binding transpor | ||||||||||
Modification date | 20240403 | 20240416 | ||||||||||
UniProtAcc | Q9UL54 | P78363 | ||||||||||
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000308893, ENST00000543033, ENST00000279394, ENST00000416441, | ENST00000370225, ENST00000535881, ENST00000536513, ENST00000465352, ENST00000535735, | |||||||||
Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: TAOK2 [Title/Abstract] AND ABCA4 [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 | TAOK2 | GO:0006974 | DNA damage response | 17396146 |
Hgene | TAOK2 | GO:0008360 | regulation of cell shape | 10660600 |
Hgene | TAOK2 | GO:0030036 | actin cytoskeleton organization | 10660600 |
Hgene | TAOK2 | GO:0043410 | positive regulation of MAPK cascade | 10660600 |
Hgene | TAOK2 | GO:0046330 | positive regulation of JNK cascade | 10660600 |
Hgene | TAOK2 | GO:0048041 | focal adhesion assembly | 10660600 |
Hgene | TAOK2 | GO:0051403 | stress-activated MAPK cascade | 11279118 |
Tgene | ABCA4 | GO:0042574 | retinal metabolic process | 29847635|33375396 |
Tgene | ABCA4 | GO:0045332 | phospholipid translocation | 24097981 |
Kinase Fusion gene breakpoints across TAOK2 (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 ABCA4 (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 | HCC-1833 | TAOK2 | chr16 | 29985969 | ABCA4 | chr1 | 94476941 |
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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. |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
TAOK2 | ABCA4 |
FUNCTION: Serine/threonine-protein kinase involved in different processes such as membrane blebbing and apoptotic bodies formation DNA damage response and MAPK14/p38 MAPK stress-activated MAPK cascade. Phosphorylates itself, MBP, activated MAPK8, MAP2K3, MAP2K6 and tubulins. Activates the MAPK14/p38 MAPK signaling pathway through the specific activation and phosphorylation of the upstream MAP2K3 and MAP2K6 kinases. In response to DNA damage, involved in the G2/M transition DNA damage checkpoint by activating the p38/MAPK14 stress-activated MAPK cascade, probably by mediating phosphorylation of upstream MAP2K3 and MAP2K6 kinases. Isoform 1, but not isoform 2, plays a role in apoptotic morphological changes, including cell contraction, membrane blebbing and apoptotic bodies formation. This function, which requires the activation of MAPK8/JNK and nuclear localization of C-terminally truncated isoform 1, may be linked to the mitochondrial CASP9-associated death pathway. Isoform 1 binds to microtubules and affects their organization and stability independently of its kinase activity. Prevents MAP3K7-mediated activation of CHUK, and thus NF-kappa-B activation, but not that of MAPK8/JNK. May play a role in the osmotic stress-MAPK8 pathway. Isoform 2, but not isoform 1, is required for PCDH8 endocytosis. Following homophilic interactions between PCDH8 extracellular domains, isoform 2 phosphorylates and activates MAPK14/p38 MAPK which in turn phosphorylates isoform 2. This process leads to PCDH8 endocytosis and CDH2 cointernalization. Both isoforms are involved in MAPK14 phosphorylation. {ECO:0000269|PubMed:10660600, ECO:0000269|PubMed:11279118, ECO:0000269|PubMed:12639963, ECO:0000269|PubMed:12665513, ECO:0000269|PubMed:13679851, ECO:0000269|PubMed:16893890, ECO:0000269|PubMed:17158878, ECO:0000269|PubMed:17396146}. | FUNCTION: Flippase that catalyzes in an ATP-dependent manner the transport of retinal-phosphatidylethanolamine conjugates like the 11-cis and all-trans isomers of N-retinylidene-phosphatidylethanolamine from the lumen to the cytoplasmic leaflet of photoreceptor outer segment disk membranes, where N-cis-retinylidene-phosphatidylethanolamine (N-cis-R-PE) is then isomerized to its all-trans isomer (N-trans-R-PE) and reduced by RDH8 to produce all-trans-retinol (all-trans-rol) and therefore prevents the accumulation of excess of 11-cis-retinal and its schiff-base conjugate and the formation of toxic bisretinoid (PubMed:24097981, PubMed:22735453, PubMed:23144455, PubMed:20404325, PubMed:10075733, PubMed:29847635, PubMed:33375396). May display both ATPase and GTPase activity that is strongly influenced by the lipid environment and the presence of retinoid compounds (PubMed:22735453). Binds the unprotonated form of N-retinylidene-phosphatidylethanolamine with high affinity in the absence of ATP, and ATP binding and hydrolysis induce a protein conformational change that causes the dissociation of N-retinylidene-phosphatidylethanolamine (By similarity). {ECO:0000250|UniProtKB:F1MWM0, ECO:0000269|PubMed:10075733, ECO:0000269|PubMed:20404325, ECO:0000269|PubMed:22735453, ECO:0000269|PubMed:23144455, ECO:0000269|PubMed:24097981, ECO:0000269|PubMed:29847635, ECO:0000269|PubMed:33375396}. |
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 TAOK2_ABCA4 |
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 |
TAOK2 | Q9UL54 | human | RND3 | P61587 | S210 | KNVKRNKsQRATKRI | |
TAOK2 | Q9UL54 | human | RND3 | P61587 | S218 | QRATKRIsHMPsRPE | |
TAOK2 | Q9UL54 | human | TAOK2 | Q9UL54 | S181 | SIMAPANsFVGtPYW | Pkinase |
TAOK2 | Q9UL54 | human | RND3 | P61587 | S240 | LRKDKAKsCTVM___ | |
TAOK2 | Q9UL54 | human | SEPTIN7 | Q16181 | T426 | EQQNssrtLEKNKKK |
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 |
TAOK2 | ID | Description | 0.00e+00 |
TAOK2 | GO:0008360 | regulation of cell shape | 1.26e-02 |
TAOK2 | GO:0022604 | regulation of cell morphogenesis | 1.95e-02 |
TAOK2 | GO:0140059 | dendrite arborization | 3.36e-02 |
TAOK2 | GO:1902855 | regulation of non-motile cilium assembly | 3.36e-02 |
TAOK2 | GO:0031954 | positive regulation of protein autophosphorylation | 4.79e-02 |
TAOK2 | GO:0045724 | positive regulation of cilium assembly | 4.79e-02 |
TAOK2 | GO:0140058 | neuron projection arborization | 4.79e-02 |
TAOK2 | GO:0007095 | mitotic G2 DNA damage checkpoint signaling | 4.79e-02 |
TAOK2 | GO:0031952 | regulation of protein autophosphorylation | 4.79e-02 |
TAOK2 | GO:0044818 | mitotic G2/M transition checkpoint | 4.79e-02 |
TAOK2 | GO:1905515 | non-motile cilium assembly | 4.79e-02 |
TAOK2 | GO:0010972 | negative regulation of G2/M transition of mitotic cell cycle | 4.79e-02 |
TAOK2 | GO:1902750 | negative regulation of cell cycle G2/M phase transition | 4.79e-02 |
TAOK2 | GO:1902017 | regulation of cilium assembly | 4.79e-02 |
TAOK2 | GO:0044773 | mitotic DNA damage checkpoint signaling | 4.79e-02 |
TAOK2 | GO:1902117 | positive regulation of organelle assembly | 4.79e-02 |
TAOK2 | GO:0048041 | focal adhesion assembly | 4.79e-02 |
TAOK2 | GO:0044774 | mitotic DNA integrity checkpoint signaling | 4.79e-02 |
TAOK2 | GO:0032147 | activation of protein kinase activity | 4.79e-02 |
TAOK2 | GO:0046330 | positive regulation of JNK cascade | 4.79e-02 |
TAOK2 | GO:0045995 | regulation of embryonic development | 4.79e-02 |
TAOK2 | GO:0007044 | cell-substrate junction assembly | 4.79e-02 |
TAOK2 | GO:0150115 | cell-substrate junction organization | 4.79e-02 |
TAOK2 | GO:0010389 | regulation of G2/M transition of mitotic cell cycle | 4.79e-02 |
TAOK2 | GO:0120034 | positive regulation of plasma membrane bounded cell projection assembly | 4.79e-02 |
TAOK2 | GO:1902749 | regulation of cell cycle G2/M phase transition | 4.79e-02 |
TAOK2 | GO:0061640 | cytoskeleton-dependent cytokinesis | 4.79e-02 |
TAOK2 | GO:0032874 | positive regulation of stress-activated MAPK cascade | 4.79e-02 |
TAOK2 | GO:0070304 | positive regulation of stress-activated protein kinase signaling cascade | 4.79e-02 |
TAOK2 | GO:0000077 | DNA damage checkpoint signaling | 4.79e-02 |
TAOK2 | GO:0046328 | regulation of JNK cascade | 4.79e-02 |
TAOK2 | GO:0006612 | protein targeting to membrane | 4.79e-02 |
TAOK2 | GO:0031570 | DNA integrity checkpoint signaling | 4.79e-02 |
TAOK2 | GO:0048813 | dendrite morphogenesis | 4.79e-02 |
TAOK2 | GO:0000086 | G2/M transition of mitotic cell cycle | 4.79e-02 |
TAOK2 | GO:0007093 | mitotic cell cycle checkpoint signaling | 4.79e-02 |
TAOK2 | GO:0044839 | cell cycle G2/M phase transition | 5.09e-02 |
TAOK2 | GO:0007254 | JNK cascade | 5.21e-02 |
TAOK2 | GO:0032872 | regulation of stress-activated MAPK cascade | 5.28e-02 |
TAOK2 | GO:0000910 | cytokinesis | 5.28e-02 |
TAOK2 | GO:0042770 | signal transduction in response to DNA damage | 5.28e-02 |
TAOK2 | GO:0070302 | regulation of stress-activated protein kinase signaling cascade | 5.28e-02 |
TAOK2 | GO:0000075 | cell cycle checkpoint signaling | 5.28e-02 |
TAOK2 | GO:1901991 | negative regulation of mitotic cell cycle phase transition | 5.28e-02 |
TAOK2 | GO:0046777 | protein autophosphorylation | 5.28e-02 |
TAOK2 | GO:0120032 | regulation of plasma membrane bounded cell projection assembly | 5.28e-02 |
TAOK2 | GO:0060491 | regulation of cell projection assembly | 5.28e-02 |
TAOK2 | GO:1902115 | regulation of organelle assembly | 5.50e-02 |
TAOK2 | GO:0051403 | stress-activated MAPK cascade | 5.56e-02 |
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Related Drugs to TAOK2_ABCA4 |
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 TAOK2-ABCA4 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 TAOK2_ABCA4 |
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 |