| UTHEALTH HOME ABOUT SBMI A-Z WEBMAIL INSIDE THE UNIVERSITY |
|
|||||||
|
Kinase Fusion Gene:CRTAP_TGFBR2 |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: CRTAP_TGFBR2 | KinaseFusionDB ID: KFG1436 | FusionGDB2.0 ID: KFG1436 | Hgene | Tgene | Gene symbol | CRTAP | TGFBR2 | Gene ID | 10491 | 7048 | |
| Gene name | cartilage associated protein | transforming growth factor beta receptor 2 | ||||||||||
| Synonyms | CASP|LEPREL3|OI7|P3H5 | AAT3|FAA3|LDS1B|LDS2|LDS2B|MFS2|RIIC|TAAD2|TBR-ii|TBRII|TGFR-2|TGFbeta-RII|tbetaR-II | ||||||||||
| Cytomap | 3p22.3 | 3p24.1 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | cartilage-associated proteinleprecan-like 3prolyl 3-hydroxylase family member 5 (non-enzymatic) | TGF-beta receptor type-2TGF-beta receptor type IIBTGF-beta type II receptortransforming growth factor beta receptor IItransforming growth factor beta receptor type IICtransforming growth factor, beta receptor II (70/80kDa)transforming growth factor, | ||||||||||
| Modification date | 20240305 | 20240416 | ||||||||||
| UniProtAcc | O75718 | P37173 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000320954, ENST00000449224, ENST00000485310, | ENST00000295754, ENST00000359013, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: CRTAP [Title/Abstract] AND TGFBR2 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | ||||||||||||
| 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 | TGFBR2 | GO:0006915 | apoptotic process | 17471240 |
| Tgene | TGFBR2 | GO:0007179 | transforming growth factor beta receptor signaling pathway | 1333888|9311995|12015308|18453574 |
| Tgene | TGFBR2 | GO:0009410 | response to xenobiotic stimulus | 17878231 |
| Tgene | TGFBR2 | GO:0010718 | positive regulation of epithelial to mesenchymal transition | 26459119 |
| Tgene | TGFBR2 | GO:0060391 | positive regulation of SMAD protein signal transduction | 18453574 |
| Tgene | TGFBR2 | GO:0070723 | response to cholesterol | 17878231 |
| Tgene | TGFBR2 | GO:2000563 | positive regulation of CD4-positive, alpha-beta T cell proliferation | 17164348 |
| Kinase Fusion gene breakpoints across CRTAP (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 TGFBR2 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
Top |
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 |
| CCLE | NP 5 | CRTAP | chr3 | 33166071 | TGFBR2 | chr3 | 30729876 |
Top |
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) |
Top |
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 |
Top |
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/chr3:/chr3:) - 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 |
| CRTAP | TGFBR2 |
| FUNCTION: Necessary for efficient 3-hydroxylation of fibrillar collagen prolyl residues. {ECO:0000269|PubMed:17055431}. | FUNCTION: Transmembrane serine/threonine kinase forming with the TGF-beta type I serine/threonine kinase receptor, TGFBR1, the non-promiscuous receptor for the TGF-beta cytokines TGFB1, TGFB2 and TGFB3. Transduces the TGFB1, TGFB2 and TGFB3 signal from the cell surface to the cytoplasm and thus regulates a plethora of physiological and pathological processes including cell cycle arrest in epithelial and hematopoietic cells, control of mesenchymal cell proliferation and differentiation, wound healing, extracellular matrix production, immunosuppression and carcinogenesis. The formation of the receptor complex composed of 2 TGFBR1 and 2 TGFBR2 molecules symmetrically bound to the cytokine dimer results in the phosphorylation and activation of TGFBR1 by the constitutively active TGFBR2. Activated TGFBR1 phosphorylates SMAD2 which dissociates from the receptor and interacts with SMAD4. The SMAD2-SMAD4 complex is subsequently translocated to the nucleus where it modulates the transcription of the TGF-beta-regulated genes. This constitutes the canonical SMAD-dependent TGF-beta signaling cascade. Also involved in non-canonical, SMAD-independent TGF-beta signaling pathways. {ECO:0000269|PubMed:7774578}.; FUNCTION: [Isoform 1]: Has transforming growth factor beta-activated receptor activity. {ECO:0000269|PubMed:8635485}.; FUNCTION: [Isoform 2]: Has transforming growth factor beta-activated receptor activity. {ECO:0000269|PubMed:8635485}.; FUNCTION: [Isoform 3]: Binds TGFB1, TGFB2 and TGFB3 in the picomolar affinity range without the participation of additional receptors. Blocks activation of SMAD2 and SMAD3 by TGFB1. {ECO:0000269|PubMed:34568316}. |
| 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 |
Top |
Kinase-Substrate Information of CRTAP_TGFBR2 |
| 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 |
| TGFBR2 | P37173 | human | TGFBR1 | P36897 | T185 | kDLIyDMttsGsGsG | TGF_beta_GS |
| TGFBR2 | P37173 | human | USP2 | O75604 | S207 | ENYGRKGsASQVPSQ | |
| TGFBR2 | P37173 | human | TGFBR2 | P37173 | S213 | TRkLMEFsEHCAIIL | |
| TGFBR2 | P37173 | human | USP2 | O75604 | S225 | SRVPEIIsPTYRPIG | |
| TGFBR2 | P37173 | human | TGFBR1 | P36897 | S187 | LIyDMttsGsGsGLP | TGF_beta_GS |
| TGFBR2 | P37173 | human | ENG | P17813 | S634 | VAVAAPAssESSStN | |
| TGFBR2 | P37173 | human | TGFBR2 | P37173 | Y259 | KGRFAEVykAKLkQN | PK_Tyr_Ser-Thr |
| TGFBR2 | P37173 | human | TGFBR1 | P36897 | S191 | MttsGsGsGLPLLVQ | TGF_beta_GS |
| TGFBR2 | P37173 | human | TGFBR2 | P37173 | S416 | sVDDLANsGQVGTAR | PK_Tyr_Ser-Thr |
| TGFBR2 | P37173 | human | TGFBR2 | P37173 | Y424 | GQVGTARyMAPEVLE | PK_Tyr_Ser-Thr |
| TGFBR2 | P37173 | human | TGFBR2 | P37173 | S409 | LRLDPTLsVDDLANs | PK_Tyr_Ser-Thr |
| TGFBR2 | P37173 | human | TGFBR1 | P36897 | S189 | yDMttsGsGsGLPLL | TGF_beta_GS |
| TGFBR2 | P37173 | human | ENG | P17813 | S635 | AVAAPAssESSStNH | |
| TGFBR2 | P37173 | human | TGFBR2 | P37173 | Y336 | AKGNLQEyLTRHVIS | PK_Tyr_Ser-Thr |
| TGFBR2 | P37173 | human | TGFBR1 | P36897 | T200 | LPLLVQRtIARtIVL | TGF_beta_GS |
| TGFBR2 | P37173 | human | TGFBR1 | P36897 | T186 | DLIyDMttsGsGsGL | TGF_beta_GS |
| 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 |
| TGFBR2 | ID | Description | 0.00e+00 |
| TGFBR2 | GO:0062042 | regulation of cardiac epithelial to mesenchymal transition | 1.70e-07 |
| TGFBR2 | GO:0003198 | epithelial to mesenchymal transition involved in endocardial cushion formation | 3.22e-07 |
| TGFBR2 | GO:0003272 | endocardial cushion formation | 1.54e-06 |
| TGFBR2 | GO:0060317 | cardiac epithelial to mesenchymal transition | 2.11e-06 |
| TGFBR2 | GO:0003203 | endocardial cushion morphogenesis | 3.01e-06 |
| TGFBR2 | GO:0003197 | endocardial cushion development | 5.20e-06 |
| TGFBR2 | GO:0072132 | mesenchyme morphogenesis | 5.74e-06 |
| TGFBR2 | GO:0010718 | positive regulation of epithelial to mesenchymal transition | 5.74e-06 |
| TGFBR2 | GO:0003208 | cardiac ventricle morphogenesis | 8.41e-06 |
| TGFBR2 | GO:0060411 | cardiac septum morphogenesis | 8.41e-06 |
| TGFBR2 | GO:0048844 | artery morphogenesis | 1.05e-05 |
| TGFBR2 | GO:0090100 | positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 2.08e-05 |
| TGFBR2 | GO:0003279 | cardiac septum development | 2.08e-05 |
| TGFBR2 | GO:0010717 | regulation of epithelial to mesenchymal transition | 2.08e-05 |
| TGFBR2 | GO:0060840 | artery development | 2.08e-05 |
| TGFBR2 | GO:0003206 | cardiac chamber morphogenesis | 2.76e-05 |
| TGFBR2 | GO:0003231 | cardiac ventricle development | 2.76e-05 |
| TGFBR2 | GO:0003205 | cardiac chamber development | 6.06e-05 |
| TGFBR2 | GO:0003222 | ventricular trabecula myocardium morphogenesis | 6.39e-05 |
| TGFBR2 | GO:0001837 | epithelial to mesenchymal transition | 6.49e-05 |
| TGFBR2 | GO:0007179 | transforming growth factor beta receptor signaling pathway | 1.32e-04 |
| TGFBR2 | GO:0003148 | outflow tract septum morphogenesis | 1.67e-04 |
| TGFBR2 | GO:0048762 | mesenchymal cell differentiation | 1.73e-04 |
| TGFBR2 | GO:0003007 | heart morphogenesis | 1.73e-04 |
| TGFBR2 | GO:0060391 | positive regulation of SMAD protein signal transduction | 1.73e-04 |
| TGFBR2 | GO:0071560 | cellular response to transforming growth factor beta stimulus | 2.01e-04 |
| TGFBR2 | GO:0070723 | response to cholesterol | 2.01e-04 |
| TGFBR2 | GO:0071559 | response to transforming growth factor beta | 2.01e-04 |
| TGFBR2 | GO:0048562 | embryonic organ morphogenesis | 2.01e-04 |
| TGFBR2 | GO:0090092 | regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 2.01e-04 |
| TGFBR2 | GO:0061384 | heart trabecula morphogenesis | 2.13e-04 |
| TGFBR2 | GO:0036314 | response to sterol | 2.44e-04 |
| TGFBR2 | GO:0060485 | mesenchyme development | 2.44e-04 |
| TGFBR2 | GO:0001569 | branching involved in blood vessel morphogenesis | 2.47e-04 |
| TGFBR2 | GO:0035909 | aorta morphogenesis | 2.67e-04 |
| TGFBR2 | GO:0007517 | muscle organ development | 2.84e-04 |
| TGFBR2 | GO:0060412 | ventricular septum morphogenesis | 3.25e-04 |
| TGFBR2 | GO:0048701 | embryonic cranial skeleton morphogenesis | 3.47e-04 |
| TGFBR2 | GO:0055010 | ventricular cardiac muscle tissue morphogenesis | 3.60e-04 |
| TGFBR2 | GO:0061383 | trabecula morphogenesis | 3.60e-04 |
| TGFBR2 | GO:0032924 | activin receptor signaling pathway | 3.78e-04 |
| TGFBR2 | GO:0007178 | transmembrane receptor protein serine/threonine kinase signaling pathway | 3.78e-04 |
| TGFBR2 | GO:0003002 | regionalization | 4.16e-04 |
| TGFBR2 | GO:0060390 | regulation of SMAD protein signal transduction | 4.16e-04 |
| TGFBR2 | GO:0048568 | embryonic organ development | 4.75e-04 |
| TGFBR2 | GO:0003229 | ventricular cardiac muscle tissue development | 4.78e-04 |
| TGFBR2 | GO:0055008 | cardiac muscle tissue morphogenesis | 5.13e-04 |
| TGFBR2 | GO:0007389 | pattern specification process | 5.13e-04 |
| TGFBR2 | GO:0001947 | heart looping | 5.53e-04 |
Top |
Related Drugs to CRTAP_TGFBR2 |
| 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 CRTAP-TGFBR2 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 |
Top |
Related Diseases to CRTAP_TGFBR2 |
| 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 |
Top |
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 |
Copyright 2024-Present -The University of Texas Health Science Center at Houston
Web File Viewing | Emergency Information |Campus Carry|Site Policies |