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Kinase Fusion Gene:ACTG2_PRKCI |
Kinase Fusion Protein Summary |
Kinase Fusion gene summary |
Kinase Fusion partner gene information | Kinase Fusion gene name: ACTG2_PRKCI | KinaseFusionDB ID: KFG128 | FusionGDB2.0 ID: KFG128 | Hgene | Tgene | Gene symbol | ACTG2 | PRKCI | Gene ID | 72 | 5584 | |
Gene name | actin gamma 2, smooth muscle | protein kinase C iota | ||||||||||
Synonyms | ACT|ACTA3|ACTE|ACTL3|ACTSG|MMIHS5|VSCM|VSCM1 | DXS1179E|PKCI|nPKC-iota | ||||||||||
Cytomap | 2p13.1 | 3q26.2 | ||||||||||
Type of gene | protein-coding | protein-coding | ||||||||||
Description | actin, gamma-enteric smooth muscleactin, gamma 2, smooth muscle, entericactin-like proteinalpha-actin-3 | protein kinase C iota typePRKC-lambda/iotaaPKC-lambda/iotaatypical protein kinase C-lambda/iota | ||||||||||
Modification date | 20240411 | 20240403 | ||||||||||
UniProtAcc | P63267 | P41743 | ||||||||||
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000345517, ENST00000409624, ENST00000409731, ENST00000409918, | ENST00000295797, | |||||||||
Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: ACTG2 [Title/Abstract] AND PRKCI [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | ACTG2(74146679)-PRKCI(170016880), # 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 |
Tgene | PRKCI | GO:0006468 | protein phosphorylation | 8226978 |
Tgene | PRKCI | GO:0010976 | positive regulation of neuron projection development | 36250347 |
Tgene | PRKCI | GO:0043524 | negative regulation of neuron apoptotic process | 10467349 |
Tgene | PRKCI | GO:0045197 | establishment or maintenance of epithelial cell apical/basal polarity | 11257119 |
Tgene | PRKCI | GO:0051092 | positive regulation of NF-kappaB transcription factor activity | 10467349 |
Kinase Fusion gene breakpoints across ACTG2 (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 PRKCI (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 | AI970867 | ACTG2 | chr2 | 74146679 | PRKCI | chr3 | 170016880 |
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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/:74146679/:170016880) - 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 |
ACTG2 | PRKCI |
FUNCTION: Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells. | FUNCTION: Calcium- and diacylglycerol-independent serine/ threonine-protein kinase that plays a general protective role against apoptotic stimuli, is involved in NF-kappa-B activation, cell survival, differentiation and polarity, and contributes to the regulation of microtubule dynamics in the early secretory pathway. Is necessary for BCR-ABL oncogene-mediated resistance to apoptotic drug in leukemia cells, protecting leukemia cells against drug-induced apoptosis. In cultured neurons, prevents amyloid beta protein-induced apoptosis by interrupting cell death process at a very early step. In glioblastoma cells, may function downstream of phosphatidylinositol 3-kinase (PI(3)K) and PDPK1 in the promotion of cell survival by phosphorylating and inhibiting the pro-apoptotic factor BAD. Can form a protein complex in non-small cell lung cancer (NSCLC) cells with PARD6A and ECT2 and regulate ECT2 oncogenic activity by phosphorylation, which in turn promotes transformed growth and invasion. In response to nerve growth factor (NGF), acts downstream of SRC to phosphorylate and activate IRAK1, allowing the subsequent activation of NF-kappa-B and neuronal cell survival. Functions in the organization of the apical domain in epithelial cells by phosphorylating EZR. This step is crucial for activation and normal distribution of EZR at the early stages of intestinal epithelial cell differentiation. Forms a protein complex with LLGL1 and PARD6B independently of PARD3 to regulate epithelial cell polarity. Plays a role in microtubule dynamics in the early secretory pathway through interaction with RAB2A and GAPDH and recruitment to vesicular tubular clusters (VTCs). In human coronary artery endothelial cells (HCAEC), is activated by saturated fatty acids and mediates lipid-induced apoptosis. Involved in early synaptic long term potentiation phase in CA1 hippocampal cells and short term memory formation (By similarity). {ECO:0000250|UniProtKB:F1M7Y5, ECO:0000269|PubMed:10356400, ECO:0000269|PubMed:10467349, ECO:0000269|PubMed:10906326, ECO:0000269|PubMed:11042363, ECO:0000269|PubMed:11724794, ECO:0000269|PubMed:12871960, ECO:0000269|PubMed:14684752, ECO:0000269|PubMed:15994303, ECO:0000269|PubMed:18270268, ECO:0000269|PubMed:19327373, ECO:0000269|PubMed:21189248, ECO:0000269|PubMed:21419810, ECO:0000269|PubMed:8226978, ECO:0000269|PubMed:9346882}. |
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 ACTG2_PRKCI |
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 |
PRKCI | P41743 | human | MARK2 | Q7KZI7 | T596 | rGVssRstFHAGQLR | |
PRKCI | P41743 | human | AMOT | Q4VCS5 | T750 | DMEGRIKtLHAQIIE | Angiomotin_C |
PRKCI | P41743 | human | MAPT | P10636-8 | S352 | DFKDrVQskIGsLDN | Tubulin-binding |
PRKCI | P41743 | human | ROCK1 | Q13464 | T1334 | AsPRtLstRstANQs | |
PRKCI | P41743 | human | EZR | P15311 | T567 | QGRDkyKtLRQIRQG | ERM_C |
PRKCI | P41743 | human | SP1 | P08047 | S59 | GGQEsQPsPLALLAA | |
PRKCI | P41743 | human | ROCK1 | Q13464 | S1333 | RAsPRtLstRstANQ | |
PRKCI | P41743 | human | NUMB | P49757 | S295 | sPFKRQLsLRINELP | NumbF |
PRKCI | P41743 | human | MARK3 | P27448 | T564 | RGTASRStFHGQPRE | |
PRKCI | P41743 | human | CDK7 | P50613 | T170 | GsPNRAytHQVVtRW | Pkinase |
PRKCI | P41743 | human | GLI1 | P08151 | S243 | DCRWDGCsQEFDSQE | |
PRKCI | P41743 | human | ROCK1 | Q13464 | T1337 | RtLstRstANQsFRK | |
PRKCI | P41743 | human | NUMB | P49757 | S7 | _MNKLRQsFRRKkDV | |
PRKCI | P41743 | human | NUMB | P49757 | S276 | EQLARQGsFrGFPAL | NumbF |
PRKCI | P41743 | human | MAPT | P10636-8 | S324 | kVTskCGsLGNIHHk | Tubulin-binding |
PRKCI | P41743 | human | PPP1R14C | Q8TAE6 | T73 | RHQQGKVtVkYDRKE | PP1_inhibitor |
PRKCI | P41743 | human | FBXW7 | Q969H0 | S10 | QELLSVGsKRRRTGG | |
PRKCI | P41743 | human | DOC2B | Q14184 | S34 | IRPIKQIsDYFPRFP | |
PRKCI | P41743 | human | FBXW7 | Q969H0 | S18 | KRRRTGGsLRGNPSs | |
PRKCI | P41743 | human | ROCK1 | Q13464 | T1024 | IDRKKANtQDLRKKE | |
PRKCI | P41743 | human | MAPT | P10636-8 | S293 | NVQskCGsKDNIkHV | Tubulin-binding |
PRKCI | P41743 | human | BAD | Q92934 | S99 | PFrGrsRsAPPNLWA | Bcl-2_BAD |
PRKCI | P41743 | human | UBTF | P17480 | S412 | EkPKRPVsAMFIFSE | HMG_box |
PRKCI | P41743 | human | ELF3 | P78545 | S68 | GEQPQFWsKTQVLDW | SAM_PNT |
PRKCI | P41743 | human | PARD6A | Q9NPB6 | S345 | RGDGSGFsL______ | |
PRKCI | P41743 | human | ECT2 | Q9H8V3 | T359 | YLYEKANtPELKksV | |
PRKCI | P41743 | human | AMOT | Q4VCS5 | T536 | GSEDTRKtIsQLFAK | |
PRKCI | P41743 | human | GLI1 | P08151 | T304 | GEKPHKCtFEGCRKS | zf-C2H2 |
PRKCI | P41743 | human | BAD | Q92934 | S75 | EIRsRHssyPAGtED | Bcl-2_BAD |
PRKCI | P41743 | human | VIM | P08670 | S34 | srsyVttstrtysLG | Filament_head |
PRKCI | P41743 | human | KLF10 | Q13118 | S384 | GkTYFKssHLkAHTR | |
PRKCI | P41743 | human | MAPT | P10636-8 | S258 | PDLkNVKskIGstEN | Tubulin-binding |
PRKCI | P41743 | human | EZH2 | Q15910 | T487 | APAEDVDtPPRKKKR | |
PRKCI | P41743 | human | EZH2 | Q15910 | S690 | KIRFANHsVNPNCyA | SET |
PRKCI | P41743 | human | CTTN | Q14247 | S261 | EKLQLHEsQkDyktG | HS1_rep |
PRKCI | P41743 | human | RPS6KB2 | Q9UBS0 | S473 | PPSGTKKsKRGRGRP | |
PRKCI | P41743 | human | BAD | Q92934 | S118 | GRELRRMsDEFVDsF | Bcl-2_BAD |
PRKCI | P41743 | human | YKT6 | O15498 | S174 | LDDLVsksEVLGtQS | Synaptobrevin |
PRKCI | P41743 | human | VIM | P08670 | S39 | ttstrtysLGsALrP | Filament_head |
PRKCI | P41743 | human | ROCK1 | Q13464 | S1341 | tRstANQsFRKVVKN | |
PRKCI | P41743 | human | AMOT | Q4VCS5 | S538 | EDTRKtIsQLFAKNk | |
PRKCI | P41743 | human | EP300 | Q09472 | S89 | SELLRSGsSPNLNMG | |
PRKCI | P41743 | human | PARD3 | Q8TEW0 | S827 | REGFGRQsMSEKRtK | |
PRKCI | P41743 | human | KLF10 | Q13118 | T445 | FMRSDHLtkHARRHL | zf-C2H2 |
PRKCI | P41743 | human | EZH2 | Q15910 | T345 | LtAERIKtPPkRPGG | |
PRKCI | P41743 | human | NFE2L2 | Q16236 | S40 | SREVFDFsQRRkEYE | |
PRKCI | P41743 | human | VIM | P08670 | S56 | srsLyAssPGGVyAt | Filament_head |
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 |
PRKCI | ID | Description | 0.00e+00 |
PRKCI | GO:1903829 | positive regulation of protein localization | 3.05e-04 |
PRKCI | GO:0010821 | regulation of mitochondrion organization | 1.51e-03 |
PRKCI | GO:0051222 | positive regulation of protein transport | 1.81e-03 |
PRKCI | GO:1904951 | positive regulation of establishment of protein localization | 1.81e-03 |
PRKCI | GO:0033674 | positive regulation of kinase activity | 1.81e-03 |
PRKCI | GO:0010506 | regulation of autophagy | 2.04e-03 |
PRKCI | GO:0045216 | cell-cell junction organization | 2.28e-03 |
PRKCI | GO:0007163 | establishment or maintenance of cell polarity | 2.71e-03 |
PRKCI | GO:0051347 | positive regulation of transferase activity | 3.24e-03 |
PRKCI | GO:0030866 | cortical actin cytoskeleton organization | 3.92e-03 |
PRKCI | GO:0010975 | regulation of neuron projection development | 4.40e-03 |
PRKCI | GO:0030865 | cortical cytoskeleton organization | 5.18e-03 |
PRKCI | GO:0048511 | rhythmic process | 5.18e-03 |
PRKCI | GO:0045197 | establishment or maintenance of epithelial cell apical/basal polarity | 5.18e-03 |
PRKCI | GO:0034614 | cellular response to reactive oxygen species | 5.18e-03 |
PRKCI | GO:0030010 | establishment of cell polarity | 5.18e-03 |
PRKCI | GO:0010976 | positive regulation of neuron projection development | 5.18e-03 |
PRKCI | GO:0035088 | establishment or maintenance of apical/basal cell polarity | 5.18e-03 |
PRKCI | GO:0061245 | establishment or maintenance of bipolar cell polarity | 5.18e-03 |
PRKCI | GO:0062197 | cellular response to chemical stress | 5.24e-03 |
PRKCI | GO:0051660 | establishment of centrosome localization | 5.69e-03 |
PRKCI | GO:0034250 | positive regulation of amide metabolic process | 5.72e-03 |
PRKCI | GO:0071496 | cellular response to external stimulus | 6.56e-03 |
PRKCI | GO:0070301 | cellular response to hydrogen peroxide | 6.56e-03 |
PRKCI | GO:0043534 | blood vessel endothelial cell migration | 6.56e-03 |
PRKCI | GO:0070830 | bicellular tight junction assembly | 6.61e-03 |
PRKCI | GO:0031346 | positive regulation of cell projection organization | 6.61e-03 |
PRKCI | GO:0010631 | epithelial cell migration | 7.44e-03 |
PRKCI | GO:0120192 | tight junction assembly | 7.44e-03 |
PRKCI | GO:0090132 | epithelium migration | 7.44e-03 |
PRKCI | GO:0043297 | apical junction assembly | 7.44e-03 |
PRKCI | GO:0090130 | tissue migration | 7.44e-03 |
PRKCI | GO:0032388 | positive regulation of intracellular transport | 7.44e-03 |
PRKCI | GO:0007623 | circadian rhythm | 7.56e-03 |
PRKCI | GO:0000302 | response to reactive oxygen species | 7.56e-03 |
PRKCI | GO:0120193 | tight junction organization | 7.70e-03 |
PRKCI | GO:1902806 | regulation of cell cycle G1/S phase transition | 7.70e-03 |
PRKCI | GO:0006979 | response to oxidative stress | 7.73e-03 |
PRKCI | GO:0002064 | epithelial cell development | 7.73e-03 |
PRKCI | GO:1900034 | regulation of cellular response to heat | 7.73e-03 |
PRKCI | GO:2000345 | regulation of hepatocyte proliferation | 7.73e-03 |
PRKCI | GO:0043923 | positive regulation by host of viral transcription | 8.54e-03 |
PRKCI | GO:0022406 | membrane docking | 9.50e-03 |
PRKCI | GO:0000422 | autophagy of mitochondrion | 1.09e-02 |
PRKCI | GO:0061726 | mitochondrion disassembly | 1.09e-02 |
PRKCI | GO:0018107 | peptidyl-threonine phosphorylation | 1.12e-02 |
PRKCI | GO:0007409 | axonogenesis | 1.12e-02 |
PRKCI | GO:0042542 | response to hydrogen peroxide | 1.12e-02 |
PRKCI | GO:0090043 | regulation of tubulin deacetylation | 1.13e-02 |
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Related Drugs to ACTG2_PRKCI |
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 ACTG2-PRKCI 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 ACTG2_PRKCI |
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 |