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Kinase Fusion Gene:MIB2_ACVR1B |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: MIB2_ACVR1B | KinaseFusionDB ID: KFG3848 | FusionGDB2.0 ID: KFG3848 | Hgene | Tgene | Gene symbol | MIB2 | ACVR1B | Gene ID | 142678 | 91 | |
| Gene name | MIB E3 ubiquitin protein ligase 2 | activin A receptor type 1B | ||||||||||
| Synonyms | ZZANK1|ZZZ5 | ACTRIB|ACVRLK4|ALK4|SKR2 | ||||||||||
| Cytomap | 1p36.33 | 12q13.13 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | E3 ubiquitin-protein ligase MIB2RING-type E3 ubiquitin transferase MIB2mind bomb homolog 2mindbomb E3 ubiquitin protein ligase 2mindbomb homolog 2novel zinc finger proteinnovelzinputative NF-kappa-B-activating protein 002Nskeletrophinzinc finger | activin receptor type-1Bactivin A receptor, type IBactivin A receptor, type II-like kinase 4activin receptor-like kinase 4serine/threonine-protein kinase receptor R2 | ||||||||||
| Modification date | 20240403 | 20240411 | ||||||||||
| UniProtAcc | Q96AX9 | P36896 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000512004, ENST00000355826, ENST00000357210, ENST00000360522, ENST00000378708, ENST00000378710, ENST00000378712, ENST00000504599, ENST00000505820, ENST00000518681, ENST00000520777, | ENST00000257963, ENST00000415850, ENST00000426655, ENST00000541224, ENST00000542485, ENST00000563121, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: MIB2 [Title/Abstract] AND ACVR1B [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | MIB2(1559325)-ACVR1B(52369049), # samples:3 | |||||||||||
| 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 | ACVR1B | GO:0000082 | G1/S transition of mitotic cell cycle | 11117535 |
| Tgene | ACVR1B | GO:0006355 | regulation of DNA-templated transcription | 8622651|12665502 |
| Tgene | ACVR1B | GO:0007165 | signal transduction | 8622651|12665502 |
| Tgene | ACVR1B | GO:0018107 | peptidyl-threonine phosphorylation | 18039968 |
| Tgene | ACVR1B | GO:0030308 | negative regulation of cell growth | 11117535 |
| Tgene | ACVR1B | GO:0032924 | activin receptor signaling pathway | 9892009|12065756 |
| Tgene | ACVR1B | GO:0032927 | positive regulation of activin receptor signaling pathway | 16720724 |
| Tgene | ACVR1B | GO:0045648 | positive regulation of erythrocyte differentiation | 9032295 |
| Tgene | ACVR1B | GO:0046777 | protein autophosphorylation | 18039968 |
| Tgene | ACVR1B | GO:1901165 | positive regulation of trophoblast cell migration | 21356369 |
| Kinase Fusion gene breakpoints across MIB2 (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 ACVR1B (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-FI-A3PV-01A | MIB2 | chr1 | 1559325 | ACVR1B | chr12 | 52369049 |
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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/:1559325/:52369049) - 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 |
| MIB2 | ACVR1B |
| FUNCTION: E3 ubiquitin-protein ligase that mediates ubiquitination of Delta receptors, which act as ligands of Notch proteins. Positively regulates the Delta-mediated Notch signaling by ubiquitinating the intracellular domain of Delta, leading to endocytosis of Delta receptors. {ECO:0000250|UniProtKB:Q8R516}. | FUNCTION: Transmembrane serine/threonine kinase activin type-1 receptor forming an activin receptor complex with activin receptor type-2 (ACVR2A or ACVR2B). Transduces the activin signal from the cell surface to the cytoplasm and is thus regulating a many physiological and pathological processes including neuronal differentiation and neuronal survival, hair follicle development and cycling, FSH production by the pituitary gland, wound healing, extracellular matrix production, immunosuppression and carcinogenesis. Activin is also thought to have a paracrine or autocrine role in follicular development in the ovary. Within the receptor complex, type-2 receptors (ACVR2A and/or ACVR2B) act as a primary activin receptors whereas the type-1 receptors like ACVR1B act as downstream transducers of activin signals. Activin binds to type-2 receptor at the plasma membrane and activates its serine-threonine kinase. The activated receptor type-2 then phosphorylates and activates the type-1 receptor such as ACVR1B. Once activated, the type-1 receptor binds and phosphorylates the SMAD proteins SMAD2 and SMAD3, on serine residues of the C-terminal tail. Soon after their association with the activin receptor and subsequent phosphorylation, SMAD2 and SMAD3 are released into the cytoplasm where they interact with the common partner SMAD4. This SMAD complex translocates into the nucleus where it mediates activin-induced transcription. Inhibitory SMAD7, which is recruited to ACVR1B through FKBP1A, can prevent the association of SMAD2 and SMAD3 with the activin receptor complex, thereby blocking the activin signal. Activin signal transduction is also antagonized by the binding to the receptor of inhibin-B via the IGSF1 inhibin coreceptor. ACVR1B also phosphorylates TDP2. {ECO:0000269|PubMed:12364468, ECO:0000269|PubMed:12639945, ECO:0000269|PubMed:18039968, ECO:0000269|PubMed:20226172, ECO:0000269|PubMed:8196624, ECO:0000269|PubMed:9032295, ECO:0000269|PubMed:9892009}. |
| 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 MIB2_ACVR1B |
| 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 |
| ACVR1B | P36896 | human | TDP2 | O95551 | T88 | PkTyVDLtNEEtTDs | |
| ACVR1B | P36896 | human | TDP2 | O95551 | T92 | VDLtNEEtTDsTTSK |
| 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 |
| ACVR1B | ID | Description | 0.00e+00 |
| ACVR1B | GO:0006302 | double-strand break repair | 1.63e-02 |
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Related Drugs to MIB2_ACVR1B |
| 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 MIB2-ACVR1B 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 MIB2_ACVR1B |
| 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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