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Fusion gene ID: 29339 |
FusionGeneSummary for PTK2B_SLC5A1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PTK2B_SLC5A1 | Fusion gene ID: 29339 | Hgene | Tgene | Gene symbol | PTK2B | SLC5A1 | Gene ID | 2185 | 6523 |
| Gene name | protein tyrosine kinase 2 beta | solute carrier family 5 member 1 | |
| Synonyms | CADTK|CAKB|FADK2|FAK2|PKB|PTK|PYK2|RAFTK | D22S675|NAGT|SGLT1 | |
| Cytomap | 8p21.2 | 22q12.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein-tyrosine kinase 2-betaCAK-betaFADK 2PTK2B protein tyrosine kinase 2 betacalcium-dependent tyrosine kinasecalcium-regulated non-receptor proline-rich tyrosine kinasecell adhesion kinase betafocal adhesion kinase 2proline-rich tyrosine kinas | sodium/glucose cotransporter 1Na+/glucose cotransporter 1high affinity sodium-glucose cotransportersolute carrier family 5 (sodium/glucose cotransporter), member 1 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q14289 | P13866 | |
| Ensembl transtripts involved in fusion gene | ENST00000544172, ENST00000397501, ENST00000338238, ENST00000346049, ENST00000420218, ENST00000517339, ENST00000519650, ENST00000397497, | ENST00000266088, ENST00000543737, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 3 X 3 X 3=27 |
| # samples | 2 | 3 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: PTK2B [Title/Abstract] AND SLC5A1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| 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 | PTK2B | GO:0010595 | positive regulation of endothelial cell migration | 21245381 |
| Hgene | PTK2B | GO:0018108 | peptidyl-tyrosine phosphorylation | 7544443 |
| Hgene | PTK2B | GO:0038083 | peptidyl-tyrosine autophosphorylation | 9545257|10518561 |
| Hgene | PTK2B | GO:0043267 | negative regulation of potassium ion transport | 7544443 |
| Hgene | PTK2B | GO:0050731 | positive regulation of peptidyl-tyrosine phosphorylation | 10022914|10518561|21245381 |
| Hgene | PTK2B | GO:2000058 | regulation of ubiquitin-dependent protein catabolic process | 19880522 |
| Tgene | SLC5A1 | GO:1904659 | glucose transmembrane transport | 8836035 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * 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. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | RV | TGCT | TCGA-YU-A94I-01A | PTK2B | chr8 | 27183198 | + | SLC5A1 | chr22 | 32462922 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| 5UTR-3CDS | ENST00000544172 | ENST00000266088 | PTK2B | chr8 | 27183198 | + | SLC5A1 | chr22 | 32462922 | + |
| 5UTR-5UTR | ENST00000544172 | ENST00000543737 | PTK2B | chr8 | 27183198 | + | SLC5A1 | chr22 | 32462922 | + |
| 5UTR-3CDS | ENST00000397501 | ENST00000266088 | PTK2B | chr8 | 27183198 | + | SLC5A1 | chr22 | 32462922 | + |
| 5UTR-5UTR | ENST00000397501 | ENST00000543737 | PTK2B | chr8 | 27183198 | + | SLC5A1 | chr22 | 32462922 | + |
| 5UTR-3CDS | ENST00000338238 | ENST00000266088 | PTK2B | chr8 | 27183198 | + | SLC5A1 | chr22 | 32462922 | + |
| 5UTR-5UTR | ENST00000338238 | ENST00000543737 | PTK2B | chr8 | 27183198 | + | SLC5A1 | chr22 | 32462922 | + |
| 5UTR-3CDS | ENST00000346049 | ENST00000266088 | PTK2B | chr8 | 27183198 | + | SLC5A1 | chr22 | 32462922 | + |
| 5UTR-5UTR | ENST00000346049 | ENST00000543737 | PTK2B | chr8 | 27183198 | + | SLC5A1 | chr22 | 32462922 | + |
| 5UTR-3CDS | ENST00000420218 | ENST00000266088 | PTK2B | chr8 | 27183198 | + | SLC5A1 | chr22 | 32462922 | + |
| 5UTR-5UTR | ENST00000420218 | ENST00000543737 | PTK2B | chr8 | 27183198 | + | SLC5A1 | chr22 | 32462922 | + |
| intron-3CDS | ENST00000517339 | ENST00000266088 | PTK2B | chr8 | 27183198 | + | SLC5A1 | chr22 | 32462922 | + |
| intron-5UTR | ENST00000517339 | ENST00000543737 | PTK2B | chr8 | 27183198 | + | SLC5A1 | chr22 | 32462922 | + |
| intron-3CDS | ENST00000519650 | ENST00000266088 | PTK2B | chr8 | 27183198 | + | SLC5A1 | chr22 | 32462922 | + |
| intron-5UTR | ENST00000519650 | ENST00000543737 | PTK2B | chr8 | 27183198 | + | SLC5A1 | chr22 | 32462922 | + |
| intron-3CDS | ENST00000397497 | ENST00000266088 | PTK2B | chr8 | 27183198 | + | SLC5A1 | chr22 | 32462922 | + |
| intron-5UTR | ENST00000397497 | ENST00000543737 | PTK2B | chr8 | 27183198 | + | SLC5A1 | chr22 | 32462922 | + |
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FusionProtFeatures for PTK2B_SLC5A1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PTK2B | SLC5A1 |
| Non-receptor protein-tyrosine kinase that regulatesreorganization of the actin cytoskeleton, cell polarization, cellmigration, adhesion, spreading and bone remodeling. Plays a rolein the regulation of the humoral immune response, and is requiredfor normal levels of marginal B-cells in the spleen and normalmigration of splenic B-cells. Required for normal macrophagepolarization and migration towards sites of inflammation.Regulates cytoskeleton rearrangement and cell spreading in T-cells, and contributes to the regulation of T-cell responses.Promotes osteoclastic bone resorption; this requires bothPTK2B/PYK2 and SRC. May inhibit differentiation and activity ofosteoprogenitor cells. Functions in signaling downstream ofintegrin and collagen receptors, immune receptors, G-proteincoupled receptors (GPCR), cytokine, chemokine and growth factorreceptors, and mediates responses to cellular stress. Formsmultisubunit signaling complexes with SRC and SRC family membersupon activation; this leads to the phosphorylation of additionaltyrosine residues, creating binding sites for scaffold proteins,effectors and substrates. Regulates numerous signaling pathways.Promotes activation of phosphatidylinositol 3-kinase and of theAKT1 signaling cascade. Promotes activation of NOS3. Regulatesproduction of the cellular messenger cGMP. Promotes activation ofthe MAP kinase signaling cascade, including activation ofMAPK1/ERK2, MAPK3/ERK1 and MAPK8/JNK1. Promotes activation of Rhofamily GTPases, such as RHOA and RAC1. Recruits the ubiquitinligase MDM2 to P53/TP53 in the nucleus, and thereby regulatesP53/TP53 activity, P53/TP53 ubiquitination and proteasomaldegradation. Acts as a scaffold, binding to both PDPK1 and SRC,thereby allowing SRC to phosphorylate PDPK1 at 'Tyr-9, 'Tyr-373',and 'Tyr-376'. Promotes phosphorylation of NMDA receptors by SRCfamily members, and thereby contributes to the regulation of NMDAreceptor ion channel activity and intracellular Ca(2+) levels. Mayalso regulate potassium ion transport by phosphorylation ofpotassium channel subunits. Phosphorylates SRC; this increases SRCkinase activity. Phosphorylates ASAP1, NPHP1, KCNA2 and SHC1.Promotes phosphorylation of ASAP2, RHOU and PXN; this requiresboth SRC and PTK2/PYK2. {ECO:0000269|PubMed:10022920,ECO:0000269|PubMed:12771146, ECO:0000269|PubMed:12893833,ECO:0000269|PubMed:14585963, ECO:0000269|PubMed:15050747,ECO:0000269|PubMed:15166227, ECO:0000269|PubMed:17634955,ECO:0000269|PubMed:18086875, ECO:0000269|PubMed:18339875,ECO:0000269|PubMed:18587400, ECO:0000269|PubMed:18765415,ECO:0000269|PubMed:19086031, ECO:0000269|PubMed:19207108,ECO:0000269|PubMed:19244237, ECO:0000269|PubMed:19428251,ECO:0000269|PubMed:19648005, ECO:0000269|PubMed:19880522,ECO:0000269|PubMed:20001213, ECO:0000269|PubMed:20381867,ECO:0000269|PubMed:20521079, ECO:0000269|PubMed:21357692,ECO:0000269|PubMed:21533080, ECO:0000269|PubMed:7544443,ECO:0000269|PubMed:8670418, ECO:0000269|PubMed:8849729}. | Actively transports glucose into cells by Na(+)cotransport with a Na(+) to glucose coupling ratio of 2:1.Efficient substrate transport in mammalian kidney is provided bythe concerted action of a low affinity high capacity and a highaffinity low capacity Na(+)/glucose cotransporter arranged inseries along kidney proximal tubules. |
| 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. |
| - In-frame and retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for PTK2B_SLC5A1 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for PTK2B_SLC5A1 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| PTK2B | TGFB1I1, CBL, SORBS2, GIT1, GSN, GRIN2A, DLG3, DLG4, PTPN6, SYK, LCK, FYN, PTK2B, JAK3, JAK1, IL7R, PXN, KCNA2, LYN, BCAR1, NEDD9, JAK2, EGFR, SRC, PITPNM3, PITPNM1, PITPNM2, SLC2A1, PRKCD, ASAP2, GNA13, LPXN, ITGB2, TLN1, NPHP1, PTPN12, ITGB3, PTPN11, GRB2, RB1CC1, EWSR1, VAV1, RASA1, ERBB2, SOCS3, MBD2, PTEN, SOCS2, SH3KBP1, PDCD6IP, ALG2, DNM1, GP6, GP1BB, TRAF4, SKAP2, MAPT, HSP90AA1, CBLB, ERBB3, NEDD4L, NEDD4 | SLC5A1 | PAWR, HSPA1A |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for PTK2B_SLC5A1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Hgene | PTK2B | Q14289 | DB01097 | Leflunomide | Protein-tyrosine kinase 2-beta | small molecule | approved|investigational |
| Tgene | SLC5A1 | P13866 | DB08907 | Canagliflozin | Sodium/glucose cotransporter 1 | small molecule | approved |
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RelatedDiseases for PTK2B_SLC5A1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PTK2B | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |
| Hgene | PTK2B | C0025202 | melanoma | 1 | CTD_human |
| Hgene | PTK2B | C0037286 | Skin Neoplasms | 1 | CTD_human |
| Hgene | PTK2B | C0038220 | Status Epilepticus | 1 | CTD_human |
| Tgene | SLC5A1 | C0268186 | Congenital glucose-galactose malabsorption | 4 | CTD_human;ORPHANET;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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