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Kinase Fusion Gene:ACTN4_MAPK4 |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: ACTN4_MAPK4 | KinaseFusionDB ID: KFG132 | FusionGDB2.0 ID: KFG132 | Hgene | Tgene | Gene symbol | ACTN4 | MAPK4 | Gene ID | 81 | 5596 | |
| Gene name | actinin alpha 4 | mitogen-activated protein kinase 4 | ||||||||||
| Synonyms | ACTININ-4|FSGS|FSGS1 | ERK-4|ERK4|PRKM4|p63-MAPK|p63MAPK | ||||||||||
| Cytomap | 19q13.2 | 18q21.1-q21.2 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | alpha-actinin-4focal segmental glomerulosclerosis 1non-muscle alpha-actinin 4 | mitogen-activated protein kinase 4Erk3-relatedMAPK 4extracellular signal-regulated kinase 4 | ||||||||||
| Modification date | 20240408 | 20240403 | ||||||||||
| UniProtAcc | O43707 | P31152 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000252699, ENST00000390009, ENST00000424234, ENST00000497637, | ENST00000400384, ENST00000540640, ENST00000587823, ENST00000588540, ENST00000592595, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: ACTN4 [Title/Abstract] AND MAPK4 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | ACTN4(39142607)-MAPK4(47842739), # 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 | ACTN4 | GO:0033209 | tumor necrosis factor-mediated signaling pathway | 25411248 |
| Hgene | ACTN4 | GO:0035357 | peroxisome proliferator activated receptor signaling pathway | 22351778 |
| Hgene | ACTN4 | GO:0048384 | retinoic acid receptor signaling pathway | 22351778 |
| Kinase Fusion gene breakpoints across ACTN4 (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 MAPK4 (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 | BF813639 | ACTN4 | chr19 | 39142607 | MAPK4 | chr18 | 47842739 |
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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/:39142607/:47842739) - 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 |
| ACTN4 | MAPK4 |
| FUNCTION: F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein (Probable). Probably involved in vesicular trafficking via its association with the CART complex. The CART complex is necessary for efficient transferrin receptor recycling but not for EGFR degradation (PubMed:15772161). Involved in tight junction assembly in epithelial cells probably through interaction with MICALL2. Links MICALL2 to the actin cytoskeleton and recruits it to the tight junctions (By similarity). May also function as a transcriptional coactivator, stimulating transcription mediated by the nuclear hormone receptors PPARG and RARA (PubMed:22351778). {ECO:0000250|UniProtKB:P57780, ECO:0000269|PubMed:15772161, ECO:0000269|PubMed:22351778, ECO:0000305|PubMed:9508771}. | FUNCTION: Atypical MAPK protein. Phosphorylates microtubule-associated protein 2 (MAP2) and MAPKAPK5. The precise role of the complex formed with MAPKAPK5 is still unclear, but the complex follows a complex set of phosphorylation events: upon interaction with atypical MAPKAPK5, ERK4/MAPK4 is phosphorylated at Ser-186 and then mediates phosphorylation and activation of MAPKAPK5, which in turn phosphorylates ERK4/MAPK4. May promote entry in the cell cycle (By similarity). {ECO:0000250}. |
| 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 ACTN4_MAPK4 |
| 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 |
| MAPK4 | P31152 | human | AKT1 | P31749 | T308 | kDGAtMKtFCGtPEy | Pkinase |
| 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 |
| MAPK4 | ID | Description | 0.00e+00 |
| MAPK4 | GO:0010918 | positive regulation of mitochondrial membrane potential | 1.25e-02 |
| MAPK4 | GO:0015911 | long-chain fatty acid import across plasma membrane | 1.25e-02 |
| MAPK4 | GO:0032070 | regulation of deoxyribonuclease activity | 1.25e-02 |
| MAPK4 | GO:0070673 | response to interleukin-18 | 1.25e-02 |
| MAPK4 | GO:0022605 | mammalian oogenesis stage | 1.25e-02 |
| MAPK4 | GO:0046322 | negative regulation of fatty acid oxidation | 1.25e-02 |
| MAPK4 | GO:0070141 | response to UV-A | 1.25e-02 |
| MAPK4 | GO:0140052 | cellular response to oxidised low-density lipoprotein particle stimulus | 1.25e-02 |
| MAPK4 | GO:0003376 | sphingosine-1-phosphate receptor signaling pathway | 1.25e-02 |
| MAPK4 | GO:0010763 | positive regulation of fibroblast migration | 1.25e-02 |
| MAPK4 | GO:0045725 | positive regulation of glycogen biosynthetic process | 1.25e-02 |
| MAPK4 | GO:0045737 | positive regulation of cyclin-dependent protein serine/threonine kinase activity | 1.25e-02 |
| MAPK4 | GO:0045838 | positive regulation of membrane potential | 1.25e-02 |
| MAPK4 | GO:2000402 | negative regulation of lymphocyte migration | 1.25e-02 |
| MAPK4 | GO:0071380 | cellular response to prostaglandin E stimulus | 1.25e-02 |
| MAPK4 | GO:0007252 | I-kappaB phosphorylation | 1.25e-02 |
| MAPK4 | GO:0044539 | long-chain fatty acid import into cell | 1.25e-02 |
| MAPK4 | GO:0060644 | mammary gland epithelial cell differentiation | 1.25e-02 |
| MAPK4 | GO:0070875 | positive regulation of glycogen metabolic process | 1.25e-02 |
| MAPK4 | GO:0043217 | myelin maintenance | 1.25e-02 |
| MAPK4 | GO:0051000 | positive regulation of nitric-oxide synthase activity | 1.25e-02 |
| MAPK4 | GO:0090520 | sphingolipid mediated signaling pathway | 1.25e-02 |
| MAPK4 | GO:1904031 | positive regulation of cyclin-dependent protein kinase activity | 1.25e-02 |
| MAPK4 | GO:0035821 | modulation of process of another organism | 1.25e-02 |
| MAPK4 | GO:0048266 | behavioral response to pain | 1.25e-02 |
| MAPK4 | GO:0060716 | labyrinthine layer blood vessel development | 1.25e-02 |
| MAPK4 | GO:0031998 | regulation of fatty acid beta-oxidation | 1.25e-02 |
| MAPK4 | GO:0090201 | negative regulation of release of cytochrome c from mitochondria | 1.25e-02 |
| MAPK4 | GO:0140354 | lipid import into cell | 1.25e-02 |
| MAPK4 | GO:1902001 | fatty acid transmembrane transport | 1.25e-02 |
| MAPK4 | GO:1902018 | negative regulation of cilium assembly | 1.25e-02 |
| MAPK4 | GO:0071379 | cellular response to prostaglandin stimulus | 1.25e-02 |
| MAPK4 | GO:2000010 | positive regulation of protein localization to cell surface | 1.25e-02 |
| MAPK4 | GO:0032069 | regulation of nuclease activity | 1.25e-02 |
| MAPK4 | GO:0003323 | type B pancreatic cell development | 1.25e-02 |
| MAPK4 | GO:0032891 | negative regulation of organic acid transport | 1.25e-02 |
| MAPK4 | GO:0034695 | response to prostaglandin E | 1.25e-02 |
| MAPK4 | GO:0071676 | negative regulation of mononuclear cell migration | 1.25e-02 |
| MAPK4 | GO:0050995 | negative regulation of lipid catabolic process | 1.25e-02 |
| MAPK4 | GO:0022011 | myelination in peripheral nervous system | 1.25e-02 |
| MAPK4 | GO:0032292 | peripheral nervous system axon ensheathment | 1.25e-02 |
| MAPK4 | GO:0032770 | positive regulation of monooxygenase activity | 1.25e-02 |
| MAPK4 | GO:0003309 | type B pancreatic cell differentiation | 1.25e-02 |
| MAPK4 | GO:0005979 | regulation of glycogen biosynthetic process | 1.25e-02 |
| MAPK4 | GO:0010962 | regulation of glucan biosynthetic process | 1.25e-02 |
| MAPK4 | GO:0014044 | Schwann cell development | 1.25e-02 |
| MAPK4 | GO:0050999 | regulation of nitric-oxide synthase activity | 1.25e-02 |
| MAPK4 | GO:0060674 | placenta blood vessel development | 1.25e-02 |
| MAPK4 | GO:2000191 | regulation of fatty acid transport | 1.25e-02 |
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Related Drugs to ACTN4_MAPK4 |
| 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 ACTN4-MAPK4 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 ACTN4_MAPK4 |
| 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 | ACTN4 | C4551527 | Focal segmental glomerulosclerosis 1 | 9 | GENOMICS_ENGLAND;UNIPROT |
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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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