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Kinase Fusion Gene:ERBB2_CD99 |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: ERBB2_CD99 | KinaseFusionDB ID: KFG2050 | FusionGDB2.0 ID: KFG2050 | Hgene | Tgene | Gene symbol | ERBB2 | CD99 | Gene ID | 2064 | 4267 | |
| Gene name | erb-b2 receptor tyrosine kinase 2 | CD99 molecule (Xg blood group) | ||||||||||
| Synonyms | CD340|HER-2|HER-2/neu|HER2|MLN 19|MLN-19|NEU|NGL|TKR1|VSCN2|c-ERB-2|c-ERB2|p185(erbB2) | HBA71|MIC2|MIC2X|MIC2Y|MSK5X | ||||||||||
| Cytomap | 17q12 | X;Y | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | receptor tyrosine-protein kinase erbB-2c-erb B2/neu proteinherstatinhuman epidermal growth factor receptor 2metastatic lymph node gene 19 proteinneuro/glioblastoma derived oncogene homologneuroblastoma/glioblastoma derived oncogene homologproto-onc | CD99 antigenE2 antigenMIC2 (monoclonal antibody 12E7)T-cell surface glycoprotein E2antigen identified by monoclonal 12E7, Y homologantigen identified by monoclonal antibodies 12E7, F21 and O13cell surface antigen 12E7cell surface antigen HBA-71cel | ||||||||||
| Modification date | 20240416 | 20240411 | ||||||||||
| UniProtAcc | Q96RT1 | Q8TCZ2 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000269571, ENST00000406381, ENST00000445658, ENST00000540042, ENST00000540147, ENST00000541774, ENST00000578199, ENST00000584450, ENST00000584601, ENST00000584888, | ENST00000381180, ENST00000381184, ENST00000381187, ENST00000381192, ENST00000482405, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: ERBB2 [Title/Abstract] AND CD99 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | ERBB2(37874310)-CD99(2586265), # 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 | ERBB2 | GO:0007165 | signal transduction | 10572067 |
| Hgene | ERBB2 | GO:0007166 | cell surface receptor signaling pathway | 9685399 |
| Hgene | ERBB2 | GO:0007169 | cell surface receptor protein tyrosine kinase signaling pathway | 7514177|7556068 |
| Hgene | ERBB2 | GO:0018108 | peptidyl-tyrosine phosphorylation | 12000754 |
| Hgene | ERBB2 | GO:0032886 | regulation of microtubule-based process | 20937854 |
| Hgene | ERBB2 | GO:0035556 | intracellular signal transduction | 19372587 |
| Hgene | ERBB2 | GO:0038134 | ERBB2-EGFR signaling pathway | 8702723 |
| Hgene | ERBB2 | GO:0042060 | wound healing | 12646923 |
| Hgene | ERBB2 | GO:0043406 | positive regulation of MAP kinase activity | 10572067 |
| Hgene | ERBB2 | GO:0043491 | phosphatidylinositol 3-kinase/protein kinase B signal transduction | 7556068 |
| Hgene | ERBB2 | GO:0045785 | positive regulation of cell adhesion | 7556068 |
| Hgene | ERBB2 | GO:0050679 | positive regulation of epithelial cell proliferation | 10572067 |
| Hgene | ERBB2 | GO:0071363 | cellular response to growth factor stimulus | 20010870 |
| Hgene | ERBB2 | GO:0090314 | positive regulation of protein targeting to membrane | 20010870 |
| Kinase Fusion gene breakpoints across ERBB2 (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 CD99 (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 | BI045492 | ERBB2 | chr17 | 37874310 | CD99 | chrY | 2586265 |
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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/:37874310/:2586265) - 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 |
| ERBB2 | CD99 |
| FUNCTION: Acts as an adapter for the receptor ERBB2, in epithelia. By binding the unphosphorylated 'Tyr-1248' of receptor ERBB2, it may contribute to stabilize this unphosphorylated state (PubMed:16203728). Inhibits NOD2-dependent NF-kappa-B signaling and pro-inflammatory cytokine secretion (PubMed:16203728). {ECO:0000269|PubMed:10878805, ECO:0000269|PubMed:16203728}. | FUNCTION: Plays a role in a late step of leukocyte extravasation helping cells to overcome the endothelial basement membrane. Acts at the same site as, but independently of, PECAM1 (By similarity). Homophilic adhesion molecule, but these interactions may not be required for cell aggregation (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 ERBB2_CD99 |
| 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 |
| ERBB2 | P04626 | human | BBC3 | Q9BXH1 | Y172 | PsPWRVLyNLIMGLL | PUMA |
| ERBB2 | P04626 | human | ERBB2 | P04626 | Y1222 | PAFDNLyyWDQDPPE | |
| ERBB2 | P04626 | human | DOCK7 | Q96N67 | Y1257 | METVPQLyDFTETHN | |
| ERBB2 | P04626 | human | BBC3 | Q9BXH1 | Y58 | PTLLPAAyLCAPTAP | PUMA |
| ERBB2 | P04626 | human | ERBB2 | P04626 | Y1023 | DLVDAEEyLVPQQGF | |
| ERBB2 | P04626 | human | PLXNB1 | O43157 | Y1708 | DSVGEPLyMLFRGIK | Plexin_cytopl |
| ERBB2 | P04626 | human | BBC3 | Q9BXH1 | Y152 | ADDLNAQyERRRQEE | PUMA |
| ERBB2 | P04626 | human | PLXNB1 | O43157 | Y1732 | SVtGKAKyTLNDNRL | Plexin_cytopl |
| ERBB2 | P04626 | human | ERBB2 | P04626 | Y877 | LDIDEtEyHADGGkV | PK_Tyr_Ser-Thr |
| ERBB2 | P04626 | human | CTNNB1 | P35222 | Y654 | RNEGVAtyAAAVLFR | |
| ERBB2 | P04626 | human | ERBB2 | P04626 | Y1112 | DPsPLQRySEDPTVP | |
| ERBB2 | P04626 | human | ERBB2 | P04626 | Y1221 | sPAFDNLyyWDQDPP | |
| ERBB2 | P04626 | human | ERBB2 | P04626 | Y1248 | PtAENPEyLGLDVPV | |
| ERBB2 | P04626 | human | ERBB2 | P04626 | Y1139 | tCsPQPEyVNQPDVR | |
| ERBB2 | P04626 | human | CDK1 | P06493 | Y15 | EkIGEGtyGVVykGR | Pkinase |
| ERBB2 | P04626 | human | LDHA | P00338 | Y10 | tLkDQLIyNLLkEEQ | |
| ERBB2 | P04626 | human | ERBB2 | P04626 | Y1196 | GAVENPEyLtPQGGA |
| 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 |
| ERBB2 | ID | Description | 0.00e+00 |
| ERBB2 | GO:0090316 | positive regulation of intracellular protein transport | 1.24e-02 |
| ERBB2 | GO:0032388 | positive regulation of intracellular transport | 1.24e-02 |
| ERBB2 | GO:0033157 | regulation of intracellular protein transport | 1.24e-02 |
| ERBB2 | GO:0043547 | positive regulation of GTPase activity | 1.24e-02 |
| ERBB2 | GO:0010001 | glial cell differentiation | 1.24e-02 |
| ERBB2 | GO:0043087 | regulation of GTPase activity | 1.48e-02 |
| ERBB2 | GO:0051222 | positive regulation of protein transport | 1.48e-02 |
| ERBB2 | GO:1904951 | positive regulation of establishment of protein localization | 1.48e-02 |
| ERBB2 | GO:0032386 | regulation of intracellular transport | 1.48e-02 |
| ERBB2 | GO:0042063 | gliogenesis | 1.48e-02 |
| ERBB2 | GO:0050767 | regulation of neurogenesis | 2.05e-02 |
| ERBB2 | GO:0045685 | regulation of glial cell differentiation | 2.10e-02 |
| ERBB2 | GO:0007405 | neuroblast proliferation | 2.10e-02 |
| ERBB2 | GO:0007422 | peripheral nervous system development | 2.10e-02 |
| ERBB2 | GO:0007409 | axonogenesis | 2.11e-02 |
| ERBB2 | GO:0033077 | T cell differentiation in thymus | 2.11e-02 |
| ERBB2 | GO:0051960 | regulation of nervous system development | 2.11e-02 |
| ERBB2 | GO:0045995 | regulation of embryonic development | 2.11e-02 |
| ERBB2 | GO:1903829 | positive regulation of protein localization | 2.11e-02 |
| ERBB2 | GO:0050808 | synapse organization | 2.11e-02 |
| ERBB2 | GO:1905477 | positive regulation of protein localization to membrane | 2.21e-02 |
| ERBB2 | GO:0048709 | oligodendrocyte differentiation | 2.21e-02 |
| ERBB2 | GO:0048144 | fibroblast proliferation | 2.21e-02 |
| ERBB2 | GO:2001252 | positive regulation of chromosome organization | 2.21e-02 |
| ERBB2 | GO:1902106 | negative regulation of leukocyte differentiation | 2.21e-02 |
| ERBB2 | GO:1903707 | negative regulation of hemopoiesis | 2.40e-02 |
| ERBB2 | GO:0007098 | centrosome cycle | 3.15e-02 |
| ERBB2 | GO:0042552 | myelination | 3.21e-02 |
| ERBB2 | GO:0007272 | ensheathment of neurons | 3.21e-02 |
| ERBB2 | GO:0008366 | axon ensheathment | 3.21e-02 |
| ERBB2 | GO:0031023 | microtubule organizing center organization | 3.41e-02 |
| ERBB2 | GO:0061351 | neural precursor cell proliferation | 3.67e-02 |
| ERBB2 | GO:1905475 | regulation of protein localization to membrane | 3.67e-02 |
| ERBB2 | GO:0042129 | regulation of T cell proliferation | 3.67e-02 |
| ERBB2 | GO:2001242 | regulation of intrinsic apoptotic signaling pathway | 3.67e-02 |
| ERBB2 | GO:0007416 | synapse assembly | 3.67e-02 |
| ERBB2 | GO:0042098 | T cell proliferation | 3.67e-02 |
| ERBB2 | GO:0050679 | positive regulation of epithelial cell proliferation | 3.67e-02 |
| ERBB2 | GO:0007411 | axon guidance | 3.67e-02 |
| ERBB2 | GO:0097485 | neuron projection guidance | 3.67e-02 |
| ERBB2 | GO:0050670 | regulation of lymphocyte proliferation | 3.67e-02 |
| ERBB2 | GO:0032944 | regulation of mononuclear cell proliferation | 3.67e-02 |
| ERBB2 | GO:0050769 | positive regulation of neurogenesis | 3.67e-02 |
| ERBB2 | GO:0033002 | muscle cell proliferation | 3.67e-02 |
| ERBB2 | GO:0033044 | regulation of chromosome organization | 3.67e-02 |
| ERBB2 | GO:0045930 | negative regulation of mitotic cell cycle | 3.67e-02 |
| ERBB2 | GO:0097305 | response to alcohol | 3.67e-02 |
| ERBB2 | GO:0045927 | positive regulation of growth | 3.67e-02 |
| ERBB2 | GO:0007440 | foregut morphogenesis | 3.67e-02 |
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Related Drugs to ERBB2_CD99 |
| 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 ERBB2-CD99 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 ERBB2_CD99 |
| 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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