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Kinase Fusion Gene:HMGA2_DYRK2 |
Kinase Fusion Protein Summary |
Kinase Fusion gene summary |
Kinase Fusion partner gene information | Kinase Fusion gene name: HMGA2_DYRK2 | KinaseFusionDB ID: KFG2725 | FusionGDB2.0 ID: KFG2725 | Hgene | Tgene | Gene symbol | HMGA2 | DYRK2 | Gene ID | 8091 | 8445 | |
Gene name | high mobility group AT-hook 2 | dual specificity tyrosine phosphorylation regulated kinase 2 | ||||||||||
Synonyms | BABL|HMGI-C|HMGIC|LIPO|SRS5|STQTL9 | - | ||||||||||
Cytomap | 12q14.3 | 12q15 | ||||||||||
Type of gene | protein-coding | protein-coding | ||||||||||
Description | high mobility group protein HMGI-CHMGA2/KRT121P fusion | dual specificity tyrosine-phosphorylation-regulated kinase 2dual specificity tyrosine-(Y)-phosphorylation regulated kinase 2 | ||||||||||
Modification date | 20240407 | 20240407 | ||||||||||
UniProtAcc | P52926 | Q92630 | ||||||||||
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000354636, ENST00000393577, ENST00000393578, ENST00000403681, ENST00000425208, ENST00000536545, ENST00000541363, | ENST00000344096, ENST00000393555, ENST00000537632, | |||||||||
Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: HMGA2 [Title/Abstract] AND DYRK2 [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 | HMGA2 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 14627817 |
Hgene | HMGA2 | GO:0002062 | chondrocyte differentiation | 21484705 |
Hgene | HMGA2 | GO:0006284 | base-excision repair | 19465398 |
Hgene | HMGA2 | GO:0010564 | regulation of cell cycle process | 14645522 |
Hgene | HMGA2 | GO:0010628 | positive regulation of gene expression | 18832382 |
Hgene | HMGA2 | GO:0031507 | heterochromatin formation | 16901784 |
Hgene | HMGA2 | GO:0035556 | intracellular signal transduction | 16061642 |
Hgene | HMGA2 | GO:0035988 | chondrocyte proliferation | 21484705 |
Hgene | HMGA2 | GO:0043066 | negative regulation of apoptotic process | 19465398 |
Hgene | HMGA2 | GO:0043392 | negative regulation of DNA binding | 14645522 |
Hgene | HMGA2 | GO:0043922 | negative regulation by host of viral transcription | 17005673 |
Hgene | HMGA2 | GO:0045869 | negative regulation of single stranded viral RNA replication via double stranded DNA intermediate | 17005673 |
Hgene | HMGA2 | GO:0045892 | negative regulation of DNA-templated transcription | 18832382 |
Hgene | HMGA2 | GO:0045893 | positive regulation of DNA-templated transcription | 15225648|15755872|17005673|17324944|17426251 |
Hgene | HMGA2 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 14645522|18832382 |
Hgene | HMGA2 | GO:0071902 | positive regulation of protein serine/threonine kinase activity | 19549901 |
Hgene | HMGA2 | GO:0090402 | oncogene-induced cell senescence | 16901784 |
Hgene | HMGA2 | GO:2000648 | positive regulation of stem cell proliferation | 21484705 |
Hgene | HMGA2 | GO:2001033 | negative regulation of double-strand break repair via nonhomologous end joining | 19549901 |
Tgene | DYRK2 | GO:0006468 | protein phosphorylation | 11311121 |
Tgene | DYRK2 | GO:0042771 | intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator | 17349958 |
Tgene | DYRK2 | GO:0045725 | positive regulation of glycogen biosynthetic process | 11311121 |
Kinase Fusion gene breakpoints across HMGA2 (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 DYRK2 (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 |
ChimerKB4 | . | HMGA2 | chr12 | 66357024 | DYRK2 | chr12 | 66357024 |
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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 |
HMGA2 | DYRK2 |
FUNCTION: Functions as a transcriptional regulator. Functions in cell cycle regulation through CCNA2. Plays an important role in chromosome condensation during the meiotic G2/M transition of spermatocytes. Plays a role in postnatal myogenesis, is involved in satellite cell activation (By similarity). Positively regulates IGF2 expression through PLAG1 and in a PLAG1-independent manner (PubMed:28796236). {ECO:0000250|UniProtKB:P52927, ECO:0000269|PubMed:14645522, ECO:0000269|PubMed:28796236}. | FUNCTION: Serine/threonine-protein kinase involved in the regulation of the mitotic cell cycle, cell proliferation, apoptosis, organization of the cytoskeleton and neurite outgrowth. Functions in part via its role in ubiquitin-dependent proteasomal protein degradation. Functions downstream of ATM and phosphorylates p53/TP53 at 'Ser-46', and thereby contributes to the induction of apoptosis in response to DNA damage. Phosphorylates NFATC1, and thereby inhibits its accumulation in the nucleus and its transcription factor activity. Phosphorylates EIF2B5 at 'Ser-544', enabling its subsequent phosphorylation and inhibition by GSK3B. Likewise, phosphorylation of NFATC1, CRMP2/DPYSL2 and CRMP4/DPYSL3 promotes their subsequent phosphorylation by GSK3B. May play a general role in the priming of GSK3 substrates. Inactivates GYS1 by phosphorylation at 'Ser-641', and potentially also a second phosphorylation site, thus regulating glycogen synthesis. Mediates EDVP E3 ligase complex formation and is required for the phosphorylation and subsequent degradation of KATNA1. Phosphorylates TERT at 'Ser-457', promoting TERT ubiquitination by the EDVP complex. Phosphorylates SIAH2, and thereby increases its ubiquitin ligase activity. Promotes the proteasomal degradation of MYC and JUN, and thereby regulates progress through the mitotic cell cycle and cell proliferation. Promotes proteasomal degradation of GLI2 and GLI3, and thereby plays a role in smoothened and sonic hedgehog signaling. Plays a role in cytoskeleton organization and neurite outgrowth via its phosphorylation of DCX and DPYSL2. Phosphorylates CRMP2/DPYSL2, CRMP4/DPYSL3, DCX, EIF2B5, EIF4EBP1, GLI2, GLI3, GYS1, JUN, MDM2, MYC, NFATC1, p53/TP53, TAU/MAPT and KATNA1. Can phosphorylate histone H1, histone H3 and histone H2B (in vitro). Can phosphorylate CARHSP1 (in vitro). {ECO:0000269|PubMed:11311121, ECO:0000269|PubMed:12588975, ECO:0000269|PubMed:14593110, ECO:0000269|PubMed:15910284, ECO:0000269|PubMed:16511445, ECO:0000269|PubMed:16611631, ECO:0000269|PubMed:17349958, ECO:0000269|PubMed:18455992, ECO:0000269|PubMed:18599021, ECO:0000269|PubMed:19287380, ECO:0000269|PubMed:22307329, ECO:0000269|PubMed:22878263, ECO:0000269|PubMed:23362280, ECO:0000269|PubMed:9748265}. |
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 HMGA2_DYRK2 |
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 |
DYRK2 | Q92630 | human | SIAH2 | O43255 | S68 | GGGAGPVsPQHHELT | |
DYRK2 | Q92630 | human | CARHSP1 | Q9Y2V2 | S41 | LRGNVVPsPLPtRRt | |
DYRK2 | Q92630 | human | DCX | O43602-2 | S306 | GPMRRSKsPADSANG | |
DYRK2 | Q92630 | human | CDC25A | P30304 | S283 | PErsQEEsPPGSTKr | M-inducer_phosp |
DYRK2 | Q92630 | human | SIAH2 | O43255 | T119 | PTCRGALtPSIRNLA | |
DYRK2 | Q92630 | human | KATNA1 | O75449 | S42 | QMNKYLYsVkDTYLQ | |
DYRK2 | Q92630 | human | TP53 | P04637 | S46 | AMDDLMLsPDDIEQW | TAD2 |
DYRK2 | Q92630 | human | CDC25A | P30304 | S321 | QSLSLAssPKGTIEN | M-inducer_phosp |
DYRK2 | Q92630 | human | CDC25A | P30304 | S107 | NPMRRIHsLPQkLLG | M-inducer_phosp |
DYRK2 | Q92630 | human | DYRK2 | Q92630-2 | S483 | SVKRITEstGAItsI | |
DYRK2 | Q92630 | human | CDC25A | P30304 | S18 | RRLLFACsPPPASQP | |
DYRK2 | Q92630 | human | KATNA1 | O75449 | S109 | VPVERRPsPGPRKRQ | |
DYRK2 | Q92630 | human | DYRK2 | Q92630-2 | T484 | VKRITEstGAItsIS | |
DYRK2 | Q92630 | human | DYRK2 | Q92630-2 | T32 | SNKRTVLttQPNGLT | |
DYRK2 | Q92630 | human | KATNA1 | O75449 | T133 | HGNRPSTtVRVHRSS | |
DYRK2 | Q92630 | human | PSMC4 | P43686 | T25 | LSVsRPQtGLsFLGP | |
DYRK2 | Q92630 | human | DYRK2 | Q92630-2 | T488 | TEstGAItsISKLPP | |
DYRK2 | Q92630 | human | DYRK2 | Q92630-2 | T82 | KVKATPMtPEQAMKQ | |
DYRK2 | Q92630 | human | CRMP1 | Q14194 | S522 | PAPsAKssPsKHQPP | |
DYRK2 | Q92630 | human | EIF4EBP1 | Q13541 | S65 | FLMECrNsPVtktPP | eIF_4EBP |
DYRK2 | Q92630 | human | SNAI1 | O95863 | S104 | GkGsQPPsPPsPAPs | |
DYRK2 | Q92630 | human | DYRK2 | Q92630-2 | Y309 | EHQRVYTyIQSRFYR | Pkinase |
DYRK2 | Q92630 | human | H3-3A | P84243 | T45 | PHryrPGtVALrEIR | Histone |
DYRK2 | Q92630 | human | CDC25A | P30304 | S88 | DsGFCLDsPGPLDSK | M-inducer_phosp |
DYRK2 | Q92630 | human | HSF1 | Q00613 | S363 | DtEGRPPsPPPtstP | Vert_HS_TF |
DYRK2 | Q92630 | human | NOTCH1 | P46531 | T2511 | VPEHPFLtPsPEsPD | |
DYRK2 | Q92630 | human | SIAH2 | O43255 | T26 | PPPQPQHtPsPAAPP | |
DYRK2 | Q92630 | human | CARHSP1 | Q9Y2V2 | S30 | tPRsRERsPsPLRGN | |
DYRK2 | Q92630 | human | CDC25A | P30304 | S320 | HQSLSLAssPKGTIE | M-inducer_phosp |
DYRK2 | Q92630 | human | CARHSP1 | Q9Y2V2 | S32 | RsRERsPsPLRGNVV | |
DYRK2 | Q92630 | human | HSF1 | Q00613 | S307 | EPPsPPQsPRVEEAs | Vert_HS_TF |
DYRK2 | Q92630 | human | HSF1 | Q00613 | S320 | AsPGRPssVDtLLsP | Vert_HS_TF |
DYRK2 | Q92630 | human | DPYSL3 | Q14195 | S522 | PAGsArGsPtRPNPP | |
DYRK2 | Q92630 | human | DPYSL2 | Q16555 | S522 | PAssAktsPAkQQAP | |
DYRK2 | Q92630 | human | MAPT | P10636-8 | T212 | tPGsRsRtPsLPtPP | |
DYRK2 | Q92630 | human | DYRK2 | Q92630-2 | S497 | ISKLPPPsssAsKLR | |
DYRK2 | Q92630 | human | DYRK2 | Q92630-2 | T33 | NKRTVLttQPNGLTT | |
DYRK2 | Q92630 | human | SIAH2 | O43255 | S16 | PsANkPCsKQPPPQP | |
DYRK2 | Q92630 | human | HSF1 | Q00613 | S326 | ssVDtLLsPTALIDs | Vert_HS_TF |
DYRK2 | Q92630 | human | EIF4EBP1 | Q13541 | S101 | sQSHLRNsPEDKRAG | eIF_4EBP |
DYRK2 | Q92630 | human | CDC25A | P30304 | S156 | KkPVRPVsRGCLHSH | M-inducer_phosp |
DYRK2 | Q92630 | human | CDC25A | P30304 | S185 | sAPARMLsSNERDSS | M-inducer_phosp |
DYRK2 | Q92630 | human | TBK1 | Q9UHD2 | S527 | QDIDSRLsPGGSLAD | TBK1_CCD1 |
DYRK2 | Q92630 | human | DYRK2 | Q92630-2 | S489 | EstGAItsISKLPPP | |
DYRK2 | Q92630 | human | SIAH2 | O43255 | S28 | PQPQHtPsPAAPPAA | |
DYRK2 | Q92630 | human | HSF1 | Q00613 | T323 | GRPssVDtLLsPTAL | Vert_HS_TF |
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 |
DYRK2 | ID | Description | 0.00e+00 |
DYRK2 | GO:0061314 | Notch signaling involved in heart development | 2.82e-02 |
DYRK2 | GO:0003198 | epithelial to mesenchymal transition involved in endocardial cushion formation | 2.82e-02 |
DYRK2 | GO:1900034 | regulation of cellular response to heat | 2.82e-02 |
DYRK2 | GO:0060253 | negative regulation of glial cell proliferation | 2.82e-02 |
DYRK2 | GO:0008630 | intrinsic apoptotic signaling pathway in response to DNA damage | 2.82e-02 |
DYRK2 | GO:1901796 | regulation of signal transduction by p53 class mediator | 2.82e-02 |
DYRK2 | GO:0045931 | positive regulation of mitotic cell cycle | 3.63e-02 |
DYRK2 | GO:0070841 | inclusion body assembly | 3.63e-02 |
DYRK2 | GO:0061311 | cell surface receptor signaling pathway involved in heart development | 3.63e-02 |
DYRK2 | GO:0071480 | cellular response to gamma radiation | 3.63e-02 |
DYRK2 | GO:0003272 | endocardial cushion formation | 3.63e-02 |
DYRK2 | GO:0001701 | in utero embryonic development | 3.88e-02 |
DYRK2 | GO:0031069 | hair follicle morphogenesis | 3.88e-02 |
DYRK2 | GO:0060317 | cardiac epithelial to mesenchymal transition | 3.88e-02 |
DYRK2 | GO:0048730 | epidermis morphogenesis | 3.88e-02 |
DYRK2 | GO:0043254 | regulation of protein-containing complex assembly | 3.88e-02 |
DYRK2 | GO:0072331 | signal transduction by p53 class mediator | 3.88e-02 |
DYRK2 | GO:0003180 | aortic valve morphogenesis | 3.88e-02 |
DYRK2 | GO:0043516 | regulation of DNA damage respons | 5.92e-04 |
DYRK2 | GO:0003203 | endocardial cushion morphogenesis | 3.90e-02 |
DYRK2 | GO:0060251 | regulation of glial cell proliferation | 3.90e-02 |
DYRK2 | GO:1990000 | amyloid fibril formation | 3.92e-02 |
DYRK2 | GO:0003176 | aortic valve development | 3.94e-02 |
DYRK2 | GO:0042771 | intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator | 3.96e-02 |
DYRK2 | GO:0014014 | negative regulation of gliogenesis | 3.98e-02 |
DYRK2 | GO:1905314 | semi-lunar valve development | 4.06e-02 |
DYRK2 | GO:2000241 | regulation of reproductive process | 4.06e-02 |
DYRK2 | GO:0043086 | negative regulation of catalytic activity | 4.06e-02 |
DYRK2 | GO:0010665 | regulation of cardiac muscle cell apoptotic process | 4.06e-02 |
DYRK2 | GO:0010332 | response to gamma radiation | 4.06e-02 |
DYRK2 | GO:0003197 | endocardial cushion development | 4.06e-02 |
DYRK2 | GO:0010662 | regulation of striated muscle cell apoptotic process | 4.06e-02 |
DYRK2 | GO:0010823 | negative regulation of mitochondrion organization | 4.06e-02 |
DYRK2 | GO:1902692 | regulation of neuroblast proliferation | 4.10e-02 |
DYRK2 | GO:0010659 | cardiac muscle cell apoptotic process | 4.13e-02 |
DYRK2 | GO:0010658 | striated muscle cell apoptotic process | 4.32e-02 |
DYRK2 | GO:0072132 | mesenchyme morphogenesis | 4.33e-02 |
DYRK2 | GO:0010718 | positive regulation of epithelial to mesenchymal transition | 4.33e-02 |
DYRK2 | GO:0014009 | glial cell proliferation | 4.33e-02 |
DYRK2 | GO:0031122 | cytoplasmic microtubule organization | 4.33e-02 |
DYRK2 | GO:0003179 | heart valve morphogenesis | 4.51e-02 |
DYRK2 | GO:0000082 | G1/S transition of mitotic cell cycle | 4.62e-02 |
DYRK2 | GO:0034599 | cellular response to oxidative stress | 4.62e-02 |
DYRK2 | GO:0045927 | positive regulation of growth | 4.62e-02 |
DYRK2 | GO:0001649 | osteoblast differentiation | 4.62e-02 |
DYRK2 | GO:0001756 | somitogenesis | 4.62e-02 |
DYRK2 | GO:0034605 | cellular response to heat | 4.62e-02 |
DYRK2 | GO:2000379 | positive regulation of reactive oxygen species metabolic process | 4.67e-02 |
DYRK2 | GO:0003007 | heart morphogenesis | 4.67e-02 |
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Related Drugs to HMGA2_DYRK2 |
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 HMGA2-DYRK2 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 HMGA2_DYRK2 |
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 |
Hgene | HMGA2 | C1519176 | Salivary Gland Pleomorphic Adenoma | 2 | ORPHANET |
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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 |