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Fusion gene ID: 34730 |
FusionGeneSummary for SMAD2_CD226 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SMAD2_CD226 | Fusion gene ID: 34730 | Hgene | Tgene | Gene symbol | SMAD2 | CD226 | Gene ID | 4087 | 10666 |
| Gene name | SMAD family member 2 | CD226 molecule | |
| Synonyms | JV18|JV18-1|MADH2|MADR2|hMAD-2|hSMAD2 | DNAM-1|DNAM1|PTA1|TLiSA1 | |
| Cytomap | 18q21.1 | 18q22.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | mothers against decapentaplegic homolog 2MAD homolog 2SMAD, mothers against DPP homolog 2Sma- and Mad-related protein 2mother against DPP homolog 2 | CD226 antigenDNAX accessory molecule-1T lineage-specific activation antigen 1 antigenadhesion glycoproteinplatelet and T cell activation antigen 1 | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | Q15796 | Q15762 | |
| Ensembl transtripts involved in fusion gene | ENST00000262160, ENST00000402690, ENST00000356825, ENST00000586040, ENST00000591214, ENST00000587353, | ENST00000581982, ENST00000280200, ENST00000577287, ENST00000582621, | |
| Fusion gene scores | * DoF score | 6 X 4 X 6=144 | 3 X 3 X 3=27 |
| # samples | 7 | 3 | |
| ** MAII score | log2(7/144*10)=-1.04064198449735 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: SMAD2 [Title/Abstract] AND CD226 [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 | SMAD2 | GO:0007179 | transforming growth factor beta receptor signaling pathway | 8752209|9389648|9732876|18548003 |
| Hgene | SMAD2 | GO:0007182 | common-partner SMAD protein phosphorylation | 16806156 |
| Hgene | SMAD2 | GO:0007183 | SMAD protein complex assembly | 9111321 |
| Hgene | SMAD2 | GO:0045893 | positive regulation of transcription, DNA-templated | 9311995|9389648|9732876 |
| Hgene | SMAD2 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 9389648 |
| Hgene | SMAD2 | GO:0070723 | response to cholesterol | 17878231 |
| Tgene | CD226 | GO:0002891 | positive regulation of immunoglobulin mediated immune response | 16831868 |
| Tgene | CD226 | GO:0033005 | positive regulation of mast cell activation | 16831868 |
| Tgene | CD226 | GO:0060369 | positive regulation of Fc receptor mediated stimulatory signaling pathway | 16831868 |
| 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 | LUSC | TCGA-21-1083-01A | SMAD2 | chr18 | 45456732 | - | CD226 | chr18 | 67563281 | - |
| * 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-5UTR | ENST00000262160 | ENST00000581982 | SMAD2 | chr18 | 45456732 | - | CD226 | chr18 | 67563281 | - |
| 5UTR-5UTR | ENST00000262160 | ENST00000280200 | SMAD2 | chr18 | 45456732 | - | CD226 | chr18 | 67563281 | - |
| 5UTR-5UTR | ENST00000262160 | ENST00000577287 | SMAD2 | chr18 | 45456732 | - | CD226 | chr18 | 67563281 | - |
| 5UTR-5UTR | ENST00000262160 | ENST00000582621 | SMAD2 | chr18 | 45456732 | - | CD226 | chr18 | 67563281 | - |
| intron-5UTR | ENST00000402690 | ENST00000581982 | SMAD2 | chr18 | 45456732 | - | CD226 | chr18 | 67563281 | - |
| intron-5UTR | ENST00000402690 | ENST00000280200 | SMAD2 | chr18 | 45456732 | - | CD226 | chr18 | 67563281 | - |
| intron-5UTR | ENST00000402690 | ENST00000577287 | SMAD2 | chr18 | 45456732 | - | CD226 | chr18 | 67563281 | - |
| intron-5UTR | ENST00000402690 | ENST00000582621 | SMAD2 | chr18 | 45456732 | - | CD226 | chr18 | 67563281 | - |
| intron-5UTR | ENST00000356825 | ENST00000581982 | SMAD2 | chr18 | 45456732 | - | CD226 | chr18 | 67563281 | - |
| intron-5UTR | ENST00000356825 | ENST00000280200 | SMAD2 | chr18 | 45456732 | - | CD226 | chr18 | 67563281 | - |
| intron-5UTR | ENST00000356825 | ENST00000577287 | SMAD2 | chr18 | 45456732 | - | CD226 | chr18 | 67563281 | - |
| intron-5UTR | ENST00000356825 | ENST00000582621 | SMAD2 | chr18 | 45456732 | - | CD226 | chr18 | 67563281 | - |
| intron-5UTR | ENST00000586040 | ENST00000581982 | SMAD2 | chr18 | 45456732 | - | CD226 | chr18 | 67563281 | - |
| intron-5UTR | ENST00000586040 | ENST00000280200 | SMAD2 | chr18 | 45456732 | - | CD226 | chr18 | 67563281 | - |
| intron-5UTR | ENST00000586040 | ENST00000577287 | SMAD2 | chr18 | 45456732 | - | CD226 | chr18 | 67563281 | - |
| intron-5UTR | ENST00000586040 | ENST00000582621 | SMAD2 | chr18 | 45456732 | - | CD226 | chr18 | 67563281 | - |
| intron-5UTR | ENST00000591214 | ENST00000581982 | SMAD2 | chr18 | 45456732 | - | CD226 | chr18 | 67563281 | - |
| intron-5UTR | ENST00000591214 | ENST00000280200 | SMAD2 | chr18 | 45456732 | - | CD226 | chr18 | 67563281 | - |
| intron-5UTR | ENST00000591214 | ENST00000577287 | SMAD2 | chr18 | 45456732 | - | CD226 | chr18 | 67563281 | - |
| intron-5UTR | ENST00000591214 | ENST00000582621 | SMAD2 | chr18 | 45456732 | - | CD226 | chr18 | 67563281 | - |
| intron-5UTR | ENST00000587353 | ENST00000581982 | SMAD2 | chr18 | 45456732 | - | CD226 | chr18 | 67563281 | - |
| intron-5UTR | ENST00000587353 | ENST00000280200 | SMAD2 | chr18 | 45456732 | - | CD226 | chr18 | 67563281 | - |
| intron-5UTR | ENST00000587353 | ENST00000577287 | SMAD2 | chr18 | 45456732 | - | CD226 | chr18 | 67563281 | - |
| intron-5UTR | ENST00000587353 | ENST00000582621 | SMAD2 | chr18 | 45456732 | - | CD226 | chr18 | 67563281 | - |
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FusionProtFeatures for SMAD2_CD226 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SMAD2 | CD226 |
| Receptor-regulated SMAD (R-SMAD) that is anintracellular signal transducer and transcriptional modulatoractivated by TGF-beta (transforming growth factor) and activintype 1 receptor kinases. Binds the TRE element in the promoterregion of many genes that are regulated by TGF-beta and, onformation of the SMAD2/SMAD4 complex, activates transcription. Mayact as a tumor suppressor in colorectal carcinoma. Positivelyregulates PDPK1 kinase activity by stimulating its dissociationfrom the 14-3-3 protein YWHAQ which acts as a negative regulator.{ECO:0000269|PubMed:16751101, ECO:0000269|PubMed:16862174,ECO:0000269|PubMed:17327236, ECO:0000269|PubMed:19289081,ECO:0000269|PubMed:9892009}. | Involved in intercellular adhesion, lymphocytesignaling, cytotoxicity and lymphokine secretion mediated bycytotoxic T-lymphocyte (CTL) and NK cell (PubMed:8673704). Cellsurface receptor for NECTIN2. Upon ligand binding, stimulates T-cell proliferation and cytokine production, including that of IL2,IL5, IL10, IL13, and IFNG. Competes with PVRIG for NECTIN2-binding(PubMed:26755705). {ECO:0000269|PubMed:26755705,ECO:0000269|PubMed:8673704}. |
| 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 SMAD2_CD226 |
| 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 SMAD2_CD226 |
| 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 |
| SMAD2 | BRCA2, PML, ZFYVE9, ANAPC10, PIAS3, EID2, HIPK2, SKI, PIAS4, SMAD4, ZEB1, DVL1, ERBB2IP, TGIF1, HDAC1, FOXH1, EP300, SNIP1, JUN, SKIL, CDC27, CDC16, DAB2, CTNNB1, MEF2A, MEF2C, SMURF2, AKT1, SMAD3, NFYC, CAMK2G, MYC, INSR, RUNX1, RUNX2, RUNX3, SNW1, STRAP, ACVR1B, SMAD7, NEDD9, SP1, ESR1, TGFBR1, CAV1, LEF1, SMAD6, PIN1, RNF111, UCHL5, PRDM16, BPTF, POU2AF1, NEDD4, CITED2, WWP1, SMURF1, MYOCD, YY1, MED15, MED24, MED6, GTF2I, GTF2IRD1, MECOM, SMAD2, SOX9, ING2, KAT2B, KAT2A, CREBBP, SMARCC2, ARID1A, SMARCC1, SMARCA4, TRIM33, NCOA3, KDM6B, ATF3, ARID1B, STUB1, WWP2, USP9X, TP53, NUP214, USP15, CDK8, CDK9, ITCH, ELAVL1, RGCC, TCF12, ETV4, NEDD4L, HGS, ACVR2B, CSNK1D, DDX3Y, HSPA4, LEMD3, OPA1, DCAF7, SLC25A5, SLC25A6, SQRDL, BUB3, RIN1, KLF5, SMAD5, SMAD1, SLC25A3, ITGB4, CCT6A, C1orf116, DHX8, U2AF2, SIK3, DNAJA2, ATAD3B, PCID2, WRNIP1, PSPC1, DOCK9, EPB41L5, CAD, DGKA, FAM83G, CPSF7, S100A4, CHUK, CDK4, CDK2, ELAC2, NOTCH4, SMAD9, PSMD11, LAMA5, ZEB2, RANBP6, PLIN3, UBR5, SNAPIN, CSH1, CSH2, CYP11A1, PSAP, SNRNP70, PRKAR1A, RARB, RXRA, TGM2, PPP2R1A, SRI, PEX19, PSMD8, ST13, PAPOLA, ZNF41, MLLT4, ANTXR2, RPS14, UBA52, EEF1A1, ST5, KHDRBS1, PAPPA, OS9, ROCK1, ANK3, NCOA6, KPNB1, PSG9, ZMYND11, KIAA1033, RPS27A, RNF123, PAXIP1, TBC1D1, DOCK8, GATAD2B, COPS5, CUL5, ABTB1, DCUN1D1, RNPC3, FAM161B, RANBP9, DNAJC7, TRIM62, BTBD2, C22orf46, DYNC1H1, BAZ1A, CISH, ZNHIT6, NAGK, ANAPC2, EIF3L, SPTBN1, SH2D2A, LCK, PIK3CA, IRF7, IRF3, TSC2, FHL1, FHL2, FHL3, GFER, OTUB1, PPARG, NEFM, ANP32E, ANP32B, TUBA1B, PTMS, SOD1, SYT1, ATP5I, HDAC2, RHOA, GLI1, LDLRAD4, NFIA, PARD3, CAMK2A, YAP1, MAPT | CD226 | PVR, PVRL2, ITGB2, FYN |
| - 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 SMAD2_CD226 |
| 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 |
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RelatedDiseases for SMAD2_CD226 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | SMAD2 | C0376634 | Craniofacial Abnormalities | 2 | CTD_human |
| Hgene | SMAD2 | C0019189 | Hepatitis, Chronic | 1 | CTD_human |
| Hgene | SMAD2 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Hgene | SMAD2 | C0265287 | Acromicric Dysplasia | 1 | CTD_human |
| Hgene | SMAD2 | C0600519 | Ventricular Remodeling | 1 | CTD_human |
| Hgene | SMAD2 | C1876165 | Copper-Overload Cirrhosis | 1 | CTD_human |
| Tgene | CD226 | C0000786 | Spontaneous abortion | 1 | CTD_human |
| Tgene | CD226 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
| Tgene | CD226 | C0014175 | Endometriosis | 1 | CTD_human |
| Tgene | CD226 | C0024141 | Lupus Erythematosus, Systemic | 1 | CTD_human |
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