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Fusion gene ID: 16205 |
FusionGeneSummary for HIPK2_KCNJ12 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: HIPK2_KCNJ12 | Fusion gene ID: 16205 | Hgene | Tgene | Gene symbol | HIPK2 | KCNJ12 | Gene ID | 28996 | 3768 |
| Gene name | homeodomain interacting protein kinase 2 | potassium voltage-gated channel subfamily J member 12 | |
| Synonyms | PRO0593 | IRK-2|IRK2|KCNJN1|Kir2.2|Kir2.2v|hIRK|hIRK1|hkir2.2x|kcnj12x | |
| Cytomap | 7q34 | 17p11.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | homeodomain-interacting protein kinase 2hHIPk2 | ATP-sensitive inward rectifier potassium channel 12inward rectifier K(+) channel Kir2.2vinward rectifier K(+) channel Kir2.6potassium channel, inwardly rectifying subfamily J, member 12potassium inwardly-rectifying channel, subfamily J, inhibitor 1 | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | Q9H2X6 | Q14500 | |
| Ensembl transtripts involved in fusion gene | ENST00000406875, ENST00000428878, ENST00000342645, | ENST00000583088, ENST00000331718, | |
| Fusion gene scores | * DoF score | 11 X 7 X 9=693 | 3 X 2 X 3=18 |
| # samples | 12 | 3 | |
| ** MAII score | log2(12/693*10)=-2.5298209465287 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: HIPK2 [Title/Abstract] AND KCNJ12 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| 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:0006978 | DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator | 14647468 |
| Hgene | HIPK2 | GO:0045766 | positive regulation of angiogenesis | 19046997 |
| Hgene | HIPK2 | GO:0060395 | SMAD protein signal transduction | 12874272 |
| Tgene | KCNJ12 | GO:0006813 | potassium ion transport | 20921230 |
| Tgene | KCNJ12 | GO:0051289 | protein homotetramerization | 21874019 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * 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. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS3.1 | BE073399 | HIPK2 | chr7 | 139255485 | + | KCNJ12 | chr17 | 21309207 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| intron-intron | ENST00000406875 | ENST00000583088 | HIPK2 | chr7 | 139255485 | + | KCNJ12 | chr17 | 21309207 | - |
| intron-intron | ENST00000406875 | ENST00000331718 | HIPK2 | chr7 | 139255485 | + | KCNJ12 | chr17 | 21309207 | - |
| intron-intron | ENST00000428878 | ENST00000583088 | HIPK2 | chr7 | 139255485 | + | KCNJ12 | chr17 | 21309207 | - |
| intron-intron | ENST00000428878 | ENST00000331718 | HIPK2 | chr7 | 139255485 | + | KCNJ12 | chr17 | 21309207 | - |
| intron-intron | ENST00000342645 | ENST00000583088 | HIPK2 | chr7 | 139255485 | + | KCNJ12 | chr17 | 21309207 | - |
| intron-intron | ENST00000342645 | ENST00000331718 | HIPK2 | chr7 | 139255485 | + | KCNJ12 | chr17 | 21309207 | - |
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FusionProtFeatures for HIPK2_KCNJ12 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| HIPK2 | KCNJ12 |
| Serine/threonine-protein kinase involved intranscription regulation, p53/TP53-mediated cellular apoptosis andregulation of the cell cycle. Acts as a corepressor of severaltranscription factors, including SMAD1 and POU4F1/Brn3a andprobably NK homeodomain transcription factors. PhosphorylatesPDX1, ATF1, PML, p53/TP53, CREB1, CTBP1, CBX4, RUNX1, EP300,CTNNB1, HMGA1 and ZBTB4. Inhibits cell growth and promotesapoptosis through the activation of p53/TP53 both at thetranscription level and at the protein level (by phosphorylationand indirect acetylation). The phosphorylation of p53/TP53 may bemediated by a p53/TP53-HIPK2-AXIN1 complex. Involved in theresponse to hypoxia by acting as a transcriptional co-suppressorof HIF1A. Mediates transcriptional activation of TP73. In responseto TGFB, cooperates with DAXX to activate JNK. Negative regulatorthrough phosphorylation and subsequent proteasomal degradation ofCTNNB1 and the antiapoptotic factor CTBP1. In the Wnt/beta-cateninsignaling pathway acts as an intermediate kinase betweenMAP3K7/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 transcriptionfactors by phosphorylation in response to genotoxic stress. Inresponse to DNA damage, stabilizes PML by phosphorylation. PML,HIPK2 and FBXO3 may act synergically to activate p53/TP53-dependent transactivation. Promotes angiogenesis, and is involvedin erythroid differentiation, especially during fetal livererythropoiesis. Phosphorylation of RUNX1 and EP300 stimulatesEP300 transcription regulation activity. Triggers ZBTB4 proteindegradation in response to DNA damage. Modulates HMGA1 DNA-bindingaffinity. In response to high glucose, triggers phosphorylation-mediated subnuclear localization shifting of PDX1. Involved in theregulation of eye size, lens formation and retinal laminationduring 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}. | Inward rectifying potassium channel that is activated byphosphatidylinositol 4,5-bisphosphate and that probablyparticipates in controlling the resting membrane potential inelectrically excitable cells. Probably participates inestablishing action potential waveform and excitability ofneuronal and muscle tissues. Inward rectifier potassium channelsare characterized by a greater tendency to allow potassium to flowinto the cell rather than out of it. Their voltage dependence isregulated by the concentration of extracellular potassium; asexternal potassium is raised, the voltage range of the channelopening shifts to more positive voltages. The inward rectificationis mainly due to the blockage of outward current by internalmagnesium. {ECO:0000269|PubMed:12417321,ECO:0000269|PubMed:20921230, ECO:0000269|PubMed:7859381,ECO:0000269|PubMed:8647284}. |
| 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. |
| - In-frame and retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for HIPK2_KCNJ12 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for HIPK2_KCNJ12 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for HIPK2_KCNJ12 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Tgene | KCNJ12 | Q14500 | DB00204 | Dofetilide | ATP-sensitive inward rectifier potassium channel 12 | small molecule | approved|investigational |
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RelatedDiseases for HIPK2_KCNJ12 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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