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Kinase Fusion Gene:HIPK2_SND1 |
Kinase Fusion Protein Summary |
Kinase Fusion gene summary |
Kinase Fusion partner gene information | Kinase Fusion gene name: HIPK2_SND1 | KinaseFusionDB ID: KFG2699 | FusionGDB2.0 ID: KFG2699 | Hgene | Tgene | Gene symbol | HIPK2 | SND1 | Gene ID | 28996 | 27044 | |
Gene name | homeodomain interacting protein kinase 2 | staphylococcal nuclease and tudor domain containing 1 | ||||||||||
Synonyms | PRO0593 | TDRD11|TSN|Tudor-SN|p100 | ||||||||||
Cytomap | 7q34 | 7q32.1 | ||||||||||
Type of gene | protein-coding | protein-coding | ||||||||||
Description | homeodomain-interacting protein kinase 2hHIPk2 | staphylococcal nuclease domain-containing protein 1EBNA2 coactivator p100testis tissue sperm-binding protein Li 82Ptudor domain-containing protein 11 | ||||||||||
Modification date | 20240317 | 20240407 | ||||||||||
UniProtAcc | Q9H2X6 | Q7KZF4 | ||||||||||
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000406875, ENST00000428878, ENST00000342645, | ENST00000354725, ENST00000467238, | |||||||||
Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: HIPK2 [Title/Abstract] AND SND1 [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 | HIPK2 | GO:0006468 | protein phosphorylation | 19448668 |
Hgene | HIPK2 | GO:0018105 | peptidyl-serine phosphorylation | 33591310 |
Hgene | HIPK2 | GO:0030330 | DNA damage response, signal transduction by p53 class mediator | 14647468 |
Hgene | HIPK2 | GO:0045766 | positive regulation of angiogenesis | 19046997 |
Hgene | HIPK2 | GO:0060395 | SMAD protein signal transduction | 12874272 |
Tgene | SND1 | GO:0010587 | miRNA catabolic process | 28546213 |
Kinase Fusion gene breakpoints across HIPK2 (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 SND1 (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 | ETCC-016 | HIPK2 | chr7 | 139415731 | SND1 | chr7 | 127447538 |
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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 |
HIPK2 | SND1 |
FUNCTION: Serine/threonine-protein kinase involved in transcription regulation, p53/TP53-mediated cellular apoptosis and regulation of the cell cycle. Acts as a corepressor of several transcription factors, including SMAD1 and POU4F1/Brn3a and probably NK homeodomain transcription factors. Phosphorylates PDX1, ATF1, PML, p53/TP53, CREB1, CTBP1, CBX4, RUNX1, EP300, CTNNB1, HMGA1, ZBTB4 and DAZAP2. Inhibits cell growth and promotes apoptosis through the activation of p53/TP53 both at the transcription level and at the protein level (by phosphorylation and indirect acetylation). The phosphorylation of p53/TP53 may be mediated by a p53/TP53-HIPK2-AXIN1 complex. Involved in the response to hypoxia by acting as a transcriptional co-suppressor of HIF1A. Mediates transcriptional activation of TP73. In response to TGFB, cooperates with DAXX to activate JNK. Negative regulator through phosphorylation and subsequent proteasomal degradation of CTNNB1 and the antiapoptotic factor CTBP1. In the Wnt/beta-catenin signaling pathway acts as an intermediate kinase between MAP3K7/TAK1 and NLK to promote the proteasomal degradation of MYB. Phosphorylates CBX4 upon DNA damage and promotes its E3 SUMO-protein ligase activity. Activates CREB1 and ATF1 transcription factors by phosphorylation in response to genotoxic stress. In response to DNA damage, stabilizes PML by phosphorylation. PML, HIPK2 and FBXO3 may act synergically to activate p53/TP53-dependent transactivation. Promotes angiogenesis, and is involved in erythroid differentiation, especially during fetal liver erythropoiesis. Phosphorylation of RUNX1 and EP300 stimulates EP300 transcription regulation activity. Triggers ZBTB4 protein degradation in response to DNA damage. In response to DNA damage, phosphorylates DAZAP2 which localizes DAZAP2 to the nucleus, reduces interaction of DAZAP2 with HIPK2 and prevents DAZAP2-dependent ubiquitination of HIPK2 by E3 ubiquitin-protein ligase SIAH1 and subsequent proteasomal degradation (PubMed:33591310). Modulates HMGA1 DNA-binding affinity. In response to high glucose, triggers phosphorylation-mediated subnuclear localization shifting of PDX1. Involved in the regulation of eye size, lens formation and retinal lamination during late embryogenesis. {ECO:0000269|PubMed:11740489, ECO:0000269|PubMed:11925430, ECO:0000269|PubMed:12851404, ECO:0000269|PubMed:12874272, ECO:0000269|PubMed:14678985, ECO:0000269|PubMed:17018294, ECO:0000269|PubMed:17960875, ECO:0000269|PubMed:18695000, ECO:0000269|PubMed:18809579, ECO:0000269|PubMed:19015637, ECO:0000269|PubMed:19046997, ECO:0000269|PubMed:19448668, ECO:0000269|PubMed:20307497, ECO:0000269|PubMed:20573984, ECO:0000269|PubMed:20637728, ECO:0000269|PubMed:20980392, ECO:0000269|PubMed:21192925, ECO:0000269|PubMed:22825850, ECO:0000269|PubMed:33591310}. | FUNCTION: Endonuclease that mediates miRNA decay of both protein-free and AGO2-loaded miRNAs (PubMed:28546213, PubMed:18453631). As part of its function in miRNA decay, regulates mRNAs involved in G1-to-S phase transition (PubMed:28546213). Functions as a bridging factor between STAT6 and the basal transcription factor (PubMed:12234934). Plays a role in PIM1 regulation of MYB activity (PubMed:9809063). Functions as a transcriptional coactivator for STAT5 (By similarity). {ECO:0000250|UniProtKB:Q78PY7, ECO:0000269|PubMed:12234934, ECO:0000269|PubMed:18453631, ECO:0000269|PubMed:28546213, ECO:0000269|PubMed:9809063}.; FUNCTION: (Microbial infection) Functions as a transcriptional coactivator for the Epstein-Barr virus nuclear antigen 2 (EBNA2). {ECO:0000269|PubMed:7651391}.; FUNCTION: (Microbial infection) Promotes SARS-CoV-2 RNA synthesis by binding to negative-sense RNA and the viral protein nsp9. {ECO:0000269|PubMed:37794589}. |
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 HIPK2_SND1 |
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 |
HIPK2 | Q9H2X6 | human | HIPK2 | Q9H2X6 | T838 | SKRVKENtPPRCAMV | |
HIPK2 | Q9H2X6 | human | ZBTB4 | Q9P1Z0 | T797 | ERPGGtPtPVIAYsK | |
HIPK2 | Q9H2X6 | human | KLF3 | P57682 | S78 | sPPsAGNsPSSLKFP | |
HIPK2 | Q9H2X6 | human | SIAH2 | O43255 | S68 | GGGAGPVsPQHHELT | |
HIPK2 | Q9H2X6 | human | HMGA1 | P17096 | T78 | ktrkttttPGrkPrG | |
HIPK2 | Q9H2X6 | human | HIPK2 | Q9H2X6 | S827 | SSSQAIssPQRSKRV | |
HIPK2 | Q9H2X6 | human | CTBP1 | Q13363 | S422 | AHPPHAPsPGQTVkP | |
HIPK2 | Q9H2X6 | human | PML | P29590 | S36 | PSEGRQPsPsPsPtE | |
HIPK2 | Q9H2X6 | human | TLE1 | Q04724 | S289 | DAsssPAstAsSASS | |
HIPK2 | Q9H2X6 | human | SIAH2 | O43255 | T119 | PTCRGALtPSIRNLA | |
HIPK2 | Q9H2X6 | human | MECP2 | P51608 | S216 | VkRVLEKsPGkLLVk | |
HIPK2 | Q9H2X6 | human | MECP2 | P51608 | S80 | AVPEAsAsPKQRRsI | |
HIPK2 | Q9H2X6 | human | TP53 | P04637 | S46 | AMDDLMLsPDDIEQW | TAD2 |
HIPK2 | Q9H2X6 | human | SIRT1 | Q96EB6 | S682 | SDSGTCQsPSLEEPM | |
HIPK2 | Q9H2X6 | human | RUNX1 | Q01196 | S276 | VHPAtPIsPGRASGM | |
HIPK2 | Q9H2X6 | human | PML | P29590 | S8 | MEPAPARsPRPQQDP | |
HIPK2 | Q9H2X6 | human | EP300 | Q09472 | S2279 | PVQPNPMsPQQHMLP | |
HIPK2 | Q9H2X6 | human | HIPK2 | Q9H2X6 | T880 | QTIVIPDtPsPTVSV | |
HIPK2 | Q9H2X6 | human | CBX4 | O00257 | T497 | SLQVkPEtPASAAVA | |
HIPK2 | Q9H2X6 | human | HIPK2 | Q9H2X6 | Y361 | SkAVCstyLQsRYyR | Pkinase |
HIPK2 | Q9H2X6 | human | KLF3 | P57682 | S108 | sPPIKKysPPsPGVQ | |
HIPK2 | Q9H2X6 | human | KLF3 | P57682 | S101 | GLsMPsssPPIKKys | |
HIPK2 | Q9H2X6 | human | TLE1 | Q04724 | S286 | LKkDAsssPAstAsS | |
HIPK2 | Q9H2X6 | human | CEBPB | P17676 | S76 | HERAIDFsPyLEPLG | |
HIPK2 | Q9H2X6 | human | ZBTB4 | Q9P1Z0 | T983 | AAPPAPPtPPPPTLP | |
HIPK2 | Q9H2X6 | human | HMGA1 | P17096 | S36 | PRkQPPVsPGtALVG | |
HIPK2 | Q9H2X6 | human | SIRT1 | Q96EB6 | S27 | ADREAAssPAGEPLR | |
HIPK2 | Q9H2X6 | human | HIPK2 | Q9H2X6 | S364 | VCstyLQsRYyRAPE | Pkinase |
HIPK2 | Q9H2X6 | human | HDAC3 | O15379 | S374 | KMLNHAPsVQIHDVP | |
HIPK2 | Q9H2X6 | human | TP63 | Q9H3D4 | T491 | PQQRNALtPTTIPDG | |
HIPK2 | Q9H2X6 | human | HIPK2 | Q9H2X6 | S924 | SCVTVHDsPYSDSSS | |
HIPK2 | Q9H2X6 | human | RUNX1 | Q01196 | S249 | DTRQIQPsPPWsyDQ | |
HIPK2 | Q9H2X6 | human | TLE1 | Q04724 | S239 | KDSsHYDsDGDKsDD | |
HIPK2 | Q9H2X6 | human | KLF3 | P57682 | S250 | KRPLPVEsPDtQRKR | |
HIPK2 | Q9H2X6 | human | NOTCH1 | P46531 | T2511 | VPEHPFLtPsPEsPD | |
HIPK2 | Q9H2X6 | human | SIAH2 | O43255 | T26 | PPPQPQHtPsPAAPP | |
HIPK2 | Q9H2X6 | human | CTBP2 | P56545 | S428 | AHPSQAPsPNQPTKH | |
HIPK2 | Q9H2X6 | human | HMGA1 | P17096-2 | T67 | kTRkTTTtPGRkPrG | |
HIPK2 | Q9H2X6 | human | HIPK2 | Q9H2X6 | S848 | RCAMVHSsPACSTSV | |
HIPK2 | Q9H2X6 | human | PPM1D | O15297 | S85 | PLPDAGAsPAPsRCC | PP2C |
HIPK2 | Q9H2X6 | human | RUNX1 | Q01196 | T273 | sPsVHPAtPIsPGRA | |
HIPK2 | Q9H2X6 | human | HIPK2 | Q9H2X6 | S934 | SDSSSNTsPYSVQQR | |
HIPK2 | Q9H2X6 | human | KLF3 | P57682 | S224 | PPLMNsVsPPQALLQ | |
HIPK2 | Q9H2X6 | human | KLF3 | P57682 | S111 | IKKysPPsPGVQPFG | |
HIPK2 | Q9H2X6 | human | HMGA1 | P17096 | T53 | kEPsEVPtPkRPrGr | |
HIPK2 | Q9H2X6 | human | KLF3 | P57682 | S71 | LTVNKRSsPPsAGNs | |
HIPK2 | Q9H2X6 | human | PPM1D | O15297 | S54 | QPLPPRPsPAALPGG | |
HIPK2 | Q9H2X6 | human | HIPK2 | Q9H2X6 | S668 | GFQGLQAsPSkHAGY | |
HIPK2 | Q9H2X6 | human | CDKN1B | P46527 | S10 | NVRVSNGsPsLErMD | |
HIPK2 | Q9H2X6 | human | HIPK2 | Q9H2X6 | S882 | IVIPDtPsPTVSVIT | |
HIPK2 | Q9H2X6 | human | ZBTB4 | Q9P1Z0 | T795 | AAERPGGtPtPVIAY | |
HIPK2 | Q9H2X6 | human | ELF4 | Q99607 | S369 | ASLELGPsLDEEIPT | |
HIPK2 | Q9H2X6 | human | CREB1 | P16220 | S257 | PGVVMAssPALPTQP | |
HIPK2 | Q9H2X6 | human | KLF3 | P57682 | S92 | PSSHRRAsPGLsMPs | |
HIPK2 | Q9H2X6 | human | PML | P29590 | S38 | EGRQPsPsPsPtERA | |
HIPK2 | Q9H2X6 | human | HMGA1 | P17096-2 | T42 | kEPsEVPtPkrPrGr | |
HIPK2 | Q9H2X6 | human | SIAH2 | O43255 | S28 | PQPQHtPsPAAPPAA | |
HIPK2 | Q9H2X6 | human | CEBPB | P17676 | T235 | SsssPPGtPSPADAK | |
HIPK2 | Q9H2X6 | human | KLF3 | P57682 | S216 | DYYPEEMsPPLMNsV | |
HIPK2 | Q9H2X6 | human | SPAST | Q9UBP0 | S268 | sGHHRAPsySGLSMV |
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 |
HIPK2 | ID | Description | 0.00e+00 |
HIPK2 | GO:0042771 | intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator | 2.63e-08 |
HIPK2 | GO:0072331 | signal transduction by p53 class mediator | 2.70e-08 |
HIPK2 | GO:0030330 | DNA damage respons | 3.46e-10 |
HIPK2 | GO:0048511 | rhythmic process | 6.19e-07 |
HIPK2 | GO:0001666 | response to hypoxia | 6.19e-07 |
HIPK2 | GO:0008630 | intrinsic apoptotic signaling pathway in response to DNA damage | 6.82e-07 |
HIPK2 | GO:0036293 | response to decreased oxygen levels | 7.18e-07 |
HIPK2 | GO:0090398 | cellular senescence | 8.24e-07 |
HIPK2 | GO:0007623 | circadian rhythm | 8.24e-07 |
HIPK2 | GO:0070482 | response to oxygen levels | 1.02e-06 |
HIPK2 | GO:0097193 | intrinsic apoptotic signaling pathway | 1.48e-05 |
HIPK2 | GO:0042770 | signal transduction in response to DNA damage | 1.48e-05 |
HIPK2 | GO:1901796 | regulation of signal transduction by p53 class mediator | 2.66e-05 |
HIPK2 | GO:0040029 | epigenetic regulation of gene expression | 3.99e-05 |
HIPK2 | GO:0045444 | fat cell differentiation | 5.98e-05 |
HIPK2 | GO:0030099 | myeloid cell differentiation | 7.90e-05 |
HIPK2 | GO:0048732 | gland development | 9.11e-05 |
HIPK2 | GO:0071456 | cellular response to hypoxia | 9.32e-05 |
HIPK2 | GO:0051402 | neuron apoptotic process | 9.32e-05 |
HIPK2 | GO:0050872 | white fat cell differentiation | 1.03e-04 |
HIPK2 | GO:0070059 | intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress | 1.05e-04 |
HIPK2 | GO:0036294 | cellular response to decreased oxygen levels | 1.08e-04 |
HIPK2 | GO:0006977 | DNA damage respons | 1.46e-06 |
HIPK2 | GO:0051170 | import into nucleus | 1.26e-04 |
HIPK2 | GO:0071453 | cellular response to oxygen levels | 1.54e-04 |
HIPK2 | GO:0048638 | regulation of developmental growth | 1.68e-04 |
HIPK2 | GO:0006913 | nucleocytoplasmic transport | 1.68e-04 |
HIPK2 | GO:0051169 | nuclear transport | 1.68e-04 |
HIPK2 | GO:0030324 | lung development | 1.95e-04 |
HIPK2 | GO:0030323 | respiratory tube development | 2.10e-04 |
HIPK2 | GO:0060541 | respiratory system development | 3.30e-04 |
HIPK2 | GO:0031571 | mitotic G1 DNA damage checkpoint signaling | 3.30e-04 |
HIPK2 | GO:0044819 | mitotic G1/S transition checkpoint signaling | 3.30e-04 |
HIPK2 | GO:0018205 | peptidyl-lysine modification | 3.54e-04 |
HIPK2 | GO:1990830 | cellular response to leukemia inhibitory factor | 4.10e-04 |
HIPK2 | GO:0007179 | transforming growth factor beta receptor signaling pathway | 4.17e-04 |
HIPK2 | GO:1990823 | response to leukemia inhibitory factor | 4.20e-04 |
HIPK2 | GO:0043523 | regulation of neuron apoptotic process | 4.22e-04 |
HIPK2 | GO:0007178 | transmembrane receptor protein serine/threonine kinase signaling pathway | 4.27e-04 |
HIPK2 | GO:0042752 | regulation of circadian rhythm | 5.10e-04 |
HIPK2 | GO:0009314 | response to radiation | 5.10e-04 |
HIPK2 | GO:0031112 | positive regulation of microtubule polymerization or depolymerization | 5.10e-04 |
HIPK2 | GO:0016570 | histone modification | 5.82e-04 |
HIPK2 | GO:0046660 | female sex differentiation | 5.82e-04 |
HIPK2 | GO:0022612 | gland morphogenesis | 6.08e-04 |
HIPK2 | GO:0072089 | stem cell proliferation | 6.55e-04 |
HIPK2 | GO:0060251 | regulation of glial cell proliferation | 6.80e-04 |
HIPK2 | GO:0044772 | mitotic cell cycle phase transition | 7.59e-04 |
HIPK2 | GO:0014014 | negative regulation of gliogenesis | 8.67e-04 |
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Related Drugs to HIPK2_SND1 |
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 HIPK2-SND1 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 HIPK2_SND1 |
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 |