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Kinase Fusion Gene:CAMK2B_ICT1 |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: CAMK2B_ICT1 | KinaseFusionDB ID: KFG867 | FusionGDB2.0 ID: KFG867 | Hgene | Tgene | Gene symbol | CAMK2B | ICT1 | Gene ID | 816 | 3396 | |
| Gene name | calcium/calmodulin dependent protein kinase II beta | mitochondrial ribosomal protein L58 | ||||||||||
| Synonyms | CAM2|CAMK2|CAMKB|CaMKIIbeta|MRD54 | DS-1|DS1|ICT1|MRP-L58|mL62 | ||||||||||
| Cytomap | 7p13 | 17q25.1 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | calcium/calmodulin-dependent protein kinase type II subunit betaCaM kinase II beta subunitCaM-kinase II beta chaincaMK-II subunit betaproline rich calmodulin-dependent protein kinase | large ribosomal subunit protein mL6239S ribosomal protein L58, mitochondrialdigestion substraction 1immature colon carcinoma transcript 1 proteinmitochondrial large ribosomal subunit protein ICT1mitochondrial large ribosomal subunit protein mL62pept | ||||||||||
| Modification date | 20240407 | 20240305 | ||||||||||
| UniProtAcc | Q13554 | Q14197 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000502837, ENST00000258682, ENST00000346990, ENST00000347193, ENST00000350811, ENST00000353625, ENST00000358707, ENST00000395747, ENST00000395749, ENST00000440254, ENST00000457475, ENST00000489429, | ENST00000301585, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: CAMK2B [Title/Abstract] AND ICT1 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | CAMK2B(44302603)-ICT1(73015794), # 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 | CAMK2B | GO:0018105 | peptidyl-serine phosphorylation | 31930741 |
| Hgene | CAMK2B | GO:0046777 | protein autophosphorylation | 18817731 |
| Tgene | ICT1 | GO:0070126 | mitochondrial translational termination | 20186120 |
| Tgene | ICT1 | GO:0072344 | rescue of stalled ribosome | 33878294 |
| Kinase Fusion gene breakpoints across CAMK2B (5'-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 breakpoints across ICT1 (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 |
| ChimerDB4 | TCGA-LN-A4MR | CAMK2B | chr7 | 44302603 | ICT1 | chr17 | 73015794 |
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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/chr7:44302603/chr17:73015794) - 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 |
| CAMK2B | ICT1 |
| FUNCTION: Calcium/calmodulin-dependent protein kinase that functions autonomously after Ca(2+)/calmodulin-binding and autophosphorylation, and is involved in dendritic spine and synapse formation, neuronal plasticity and regulation of sarcoplasmic reticulum Ca(2+) transport in skeletal muscle (PubMed:16690701). In neurons, plays an essential structural role in the reorganization of the actin cytoskeleton during plasticity by binding and bundling actin filaments in a kinase-independent manner. This structural function is required for correct targeting of CaMK2A, which acts downstream of NMDAR to promote dendritic spine and synapse formation and maintain synaptic plasticity which enables long-term potentiation (LTP) and hippocampus-dependent learning. In developing hippocampal neurons, promotes arborization of the dendritic tree and in mature neurons, promotes dendritic remodeling. Also regulates the migration of developing neurons (PubMed:29100089). Participates in the modulation of skeletal muscle function in response to exercise (PubMed:16690701). In slow-twitch muscles, is involved in regulation of sarcoplasmic reticulum (SR) Ca(2+) transport and in fast-twitch muscle participates in the control of Ca(2+) release from the SR through phosphorylation of triadin, a ryanodine receptor-coupling factor, and phospholamban (PLN/PLB), an endogenous inhibitor of SERCA2A/ATP2A2. In response to interferon-gamma (IFN-gamma) stimulation, catalyzes phosphorylation of STAT1, stimulating the JAK-STAT signaling pathway (By similarity). Phosphorylates reticulophagy regulator RETREG1 at 'Ser-151' under endoplasmic reticulum stress conditions which enhances RETREG1 oligomerization and its membrane scission and reticulophagy activity (PubMed:31930741). {ECO:0000250|UniProtKB:P08413, ECO:0000269|PubMed:16690701, ECO:0000269|PubMed:29100089, ECO:0000269|PubMed:31930741}. | FUNCTION: Essential peptidyl-tRNA hydrolase component of the mitochondrial large ribosomal subunit (PubMed:20186120, PubMed:33878294). Acts as a codon-independent translation release factor that has lost all stop codon specificity and directs the termination of translation in mitochondrion, possibly in case of abortive elongation (PubMed:33878294). Involved in the hydrolysis of peptidyl-tRNAs that have been prematurely terminated and thus in the recycling of stalled mitochondrial ribosomes (PubMed:20186120, PubMed:33878294). {ECO:0000269|PubMed:20186120, ECO:0000269|PubMed:33878294}. |
| 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 CAMK2B_ICT1 |
| 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 |
| CAMK2B | Q13554 | human | DLGAP1 | O14490-2 | S393 | RRFTRSNsVTTAVQA | GKAP |
| CAMK2B | Q13554 | human | DLGAP1 | O14490-2 | S349 | FKKNRCLsIGIQVDD | GKAP |
| CAMK2B | Q13554 | human | PRKAA1 | Q13131 | T183 | sDGEFLRtsCGsPNy | Pkinase |
| CAMK2B | Q13554 | human | ITGB1 | P05556 | T789 | IyksAVttVVNPkyE | Integrin_b_cyt |
| CAMK2B | Q13554 | human | STMN1 | P16949 | S16 | kELEKrAsGQAFELI | Stathmin |
| CAMK2B | Q13554 | human | RETREG1 | Q9H6L5 | S151 | AQLWRSLsESWEVIN | Reticulon |
| CAMK2B | Q13554 | human | ITGB1 | P05556 | T788 | PIyksAVttVVNPky | Integrin_b_cyt |
| CAMK2B | Q13554 | human | OCLN | Q16625 | S471 | LDDyREEsEEyMAAA | Occludin_ELL |
| CAMK2B | Q13554 | human | CAMK2G | Q13555 | T287 | sMMHRQEtVECLRKF |
| 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 |
| CAMK2B | ID | Description | 0.00e+00 |
| CAMK2B | GO:0022411 | cellular component disassembly | 4.80e-03 |
| CAMK2B | GO:0070507 | regulation of microtubule cytoskeleton organization | 4.80e-03 |
| CAMK2B | GO:0035024 | negative regulation of Rho protein signal transduction | 4.80e-03 |
| CAMK2B | GO:0035633 | maintenance of blood-brain barrier | 9.90e-03 |
| CAMK2B | GO:0032886 | regulation of microtubule-based process | 9.90e-03 |
| CAMK2B | GO:0030574 | collagen catabolic process | 1.10e-02 |
| CAMK2B | GO:0046580 | negative regulation of Ras protein signal transduction | 1.10e-02 |
| CAMK2B | GO:0051058 | negative regulation of small GTPase mediated signal transduction | 1.26e-02 |
| CAMK2B | GO:0031113 | regulation of microtubule polymerization | 1.29e-02 |
| CAMK2B | GO:0090303 | positive regulation of wound healing | 1.29e-02 |
| CAMK2B | GO:0030032 | lamellipodium assembly | 1.53e-02 |
| CAMK2B | GO:0032890 | regulation of organic acid transport | 1.53e-02 |
| CAMK2B | GO:1903036 | positive regulation of response to wounding | 1.53e-02 |
| CAMK2B | GO:0035023 | regulation of Rho protein signal transduction | 1.65e-02 |
| CAMK2B | GO:0097581 | lamellipodium organization | 1.78e-02 |
| CAMK2B | GO:0046785 | microtubule polymerization | 1.78e-02 |
| CAMK2B | GO:0031110 | regulation of microtubule polymerization or depolymerization | 1.78e-02 |
| CAMK2B | GO:0032963 | collagen metabolic process | 2.09e-02 |
| CAMK2B | GO:0010469 | regulation of signaling receptor activity | 2.13e-02 |
| CAMK2B | GO:0061041 | regulation of wound healing | 2.84e-02 |
| CAMK2B | GO:0031109 | microtubule polymerization or depolymerization | 2.84e-02 |
| CAMK2B | GO:0007266 | Rho protein signal transduction | 2.84e-02 |
| CAMK2B | GO:1903008 | organelle disassembly | 3.09e-02 |
| CAMK2B | GO:1902850 | microtubule cytoskeleton organization involved in mitosis | 3.68e-02 |
| CAMK2B | GO:1903034 | regulation of response to wounding | 3.97e-02 |
| CAMK2B | GO:0046578 | regulation of Ras protein signal transduction | 4.27e-02 |
| CAMK2B | GO:0032271 | regulation of protein polymerization | 5.00e-02 |
| CAMK2B | GO:0031032 | actomyosin structure organization | 5.00e-02 |
| CAMK2B | GO:0034764 | positive regulation of transmembrane transport | 5.00e-02 |
| CAMK2B | GO:0045542 | positive regulation of cholesterol biosynthetic process | 5.00e-02 |
| CAMK2B | GO:0051933 | amino acid neurotransmitter reuptake | 5.00e-02 |
| CAMK2B | GO:0106120 | positive regulation of sterol biosynthetic process | 5.00e-02 |
| CAMK2B | GO:1903943 | regulation of hepatocyte apoptotic process | 5.00e-02 |
| CAMK2B | GO:1904179 | positive regulation of adipose tissue development | 5.00e-02 |
| CAMK2B | GO:0038183 | bile acid signaling pathway | 5.00e-02 |
| CAMK2B | GO:0099004 | calmodulin dependent kinase signaling pathway | 5.00e-02 |
| CAMK2B | GO:1904424 | regulation of GTP binding | 5.00e-02 |
| CAMK2B | GO:0001894 | tissue homeostasis | 5.00e-02 |
| CAMK2B | GO:0060249 | anatomical structure homeostasis | 5.00e-02 |
| CAMK2B | GO:0032782 | bile acid secretion | 5.00e-02 |
| CAMK2B | GO:0048012 | hepatocyte growth factor receptor signaling pathway | 5.00e-02 |
| CAMK2B | GO:0060379 | cardiac muscle cell myoblast differentiation | 5.00e-02 |
| CAMK2B | GO:2000303 | regulation of ceramide biosynthetic process | 5.00e-02 |
| CAMK2B | GO:0051258 | protein polymerization | 5.00e-02 |
| CAMK2B | GO:0031115 | negative regulation of microtubule polymerization | 5.00e-02 |
| CAMK2B | GO:0070493 | thrombin-activated receptor signaling pathway | 5.00e-02 |
| CAMK2B | GO:0071361 | cellular response to ethanol | 5.00e-02 |
| CAMK2B | GO:0090153 | regulation of sphingolipid biosynthetic process | 5.00e-02 |
| CAMK2B | GO:1905038 | regulation of membrane lipid metabolic process | 5.00e-02 |
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Related Drugs to CAMK2B_ICT1 |
| 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 CAMK2B-ICT1 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 CAMK2B_ICT1 |
| 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 |
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