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Fusion gene ID: 14423 |
FusionGeneSummary for GATA2_LAMP2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: GATA2_LAMP2 | Fusion gene ID: 14423 | Hgene | Tgene | Gene symbol | GATA2 | LAMP2 | Gene ID | 2624 | 3920 |
| Gene name | GATA binding protein 2 | lysosomal associated membrane protein 2 | |
| Synonyms | DCML|IMD21|MONOMAC|NFE1B | CD107b|LAMP-2|LAMPB|LGP-96|LGP110 | |
| Cytomap | 3q21.3 | Xq24 | |
| Type of gene | protein-coding | protein-coding | |
| Description | endothelial transcription factor GATA-2 | lysosome-associated membrane glycoprotein 2CD107 antigen-like family member B | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | P23769 | P13473 | |
| Ensembl transtripts involved in fusion gene | ENST00000341105, ENST00000489987, ENST00000430265, ENST00000487848, | ENST00000434600, ENST00000538785, ENST00000200639, ENST00000371335, ENST00000540603, | |
| Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 6 X 6 X 1=36 |
| # samples | 2 | 6 | |
| ** MAII score | log2(2/4*10)=2.32192809488736 | log2(6/36*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: GATA2 [Title/Abstract] AND LAMP2 [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 | GATA2 | GO:0006351 | transcription, DNA-templated | 16153155 |
| Hgene | GATA2 | GO:0035854 | eosinophil fate commitment | 12045236 |
| Hgene | GATA2 | GO:0045746 | negative regulation of Notch signaling pathway | 16672344 |
| Hgene | GATA2 | GO:0045766 | positive regulation of angiogenesis | 19242469 |
| Hgene | GATA2 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 15016828|20206639|21788589 |
| Hgene | GATA2 | GO:0061614 | pri-miRNA transcription by RNA polymerase II | 27780851 |
| Hgene | GATA2 | GO:2000178 | negative regulation of neural precursor cell proliferation | 16672344 |
| 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 |
| ChiTaRS3.1 | AI973078 | GATA2 | chr3 | 128198342 | + | LAMP2 | chrX | 119563198 | + |
| * 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 |
| intron-intron | ENST00000341105 | ENST00000434600 | GATA2 | chr3 | 128198342 | + | LAMP2 | chrX | 119563198 | + |
| intron-intron | ENST00000341105 | ENST00000538785 | GATA2 | chr3 | 128198342 | + | LAMP2 | chrX | 119563198 | + |
| intron-intron | ENST00000341105 | ENST00000200639 | GATA2 | chr3 | 128198342 | + | LAMP2 | chrX | 119563198 | + |
| intron-intron | ENST00000341105 | ENST00000371335 | GATA2 | chr3 | 128198342 | + | LAMP2 | chrX | 119563198 | + |
| intron-intron | ENST00000341105 | ENST00000540603 | GATA2 | chr3 | 128198342 | + | LAMP2 | chrX | 119563198 | + |
| intron-intron | ENST00000489987 | ENST00000434600 | GATA2 | chr3 | 128198342 | + | LAMP2 | chrX | 119563198 | + |
| intron-intron | ENST00000489987 | ENST00000538785 | GATA2 | chr3 | 128198342 | + | LAMP2 | chrX | 119563198 | + |
| intron-intron | ENST00000489987 | ENST00000200639 | GATA2 | chr3 | 128198342 | + | LAMP2 | chrX | 119563198 | + |
| intron-intron | ENST00000489987 | ENST00000371335 | GATA2 | chr3 | 128198342 | + | LAMP2 | chrX | 119563198 | + |
| intron-intron | ENST00000489987 | ENST00000540603 | GATA2 | chr3 | 128198342 | + | LAMP2 | chrX | 119563198 | + |
| intron-intron | ENST00000430265 | ENST00000434600 | GATA2 | chr3 | 128198342 | + | LAMP2 | chrX | 119563198 | + |
| intron-intron | ENST00000430265 | ENST00000538785 | GATA2 | chr3 | 128198342 | + | LAMP2 | chrX | 119563198 | + |
| intron-intron | ENST00000430265 | ENST00000200639 | GATA2 | chr3 | 128198342 | + | LAMP2 | chrX | 119563198 | + |
| intron-intron | ENST00000430265 | ENST00000371335 | GATA2 | chr3 | 128198342 | + | LAMP2 | chrX | 119563198 | + |
| intron-intron | ENST00000430265 | ENST00000540603 | GATA2 | chr3 | 128198342 | + | LAMP2 | chrX | 119563198 | + |
| intron-intron | ENST00000487848 | ENST00000434600 | GATA2 | chr3 | 128198342 | + | LAMP2 | chrX | 119563198 | + |
| intron-intron | ENST00000487848 | ENST00000538785 | GATA2 | chr3 | 128198342 | + | LAMP2 | chrX | 119563198 | + |
| intron-intron | ENST00000487848 | ENST00000200639 | GATA2 | chr3 | 128198342 | + | LAMP2 | chrX | 119563198 | + |
| intron-intron | ENST00000487848 | ENST00000371335 | GATA2 | chr3 | 128198342 | + | LAMP2 | chrX | 119563198 | + |
| intron-intron | ENST00000487848 | ENST00000540603 | GATA2 | chr3 | 128198342 | + | LAMP2 | chrX | 119563198 | + |
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FusionProtFeatures for GATA2_LAMP2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| GATA2 | LAMP2 |
| Transcriptional activator which regulates endothelin-1gene expression in endothelial cells. Binds to the consensussequence 5'-AGATAG-3'. | Plays an important role in chaperone-mediated autophagy,a process that mediates lysosomal degradation of proteins inresponse to various stresses and as part of the normal turnover ofproteins with a long biological half-live (PubMed:8662539,PubMed:11082038, PubMed:18644871, PubMed:24880125,PubMed:27628032). Functions by binding target proteins, such asGAPDH and MLLT11, and targeting them for lysosomal degradation(PubMed:8662539, PubMed:11082038, PubMed:18644871,PubMed:24880125). Plays a role in lysosomal protein degradation inresponse to starvation (By similarity). Required for the fusion ofautophagosomes with lysosomes during autophagy (PubMed:27628032).Cells that lack LAMP2 express normal levels of VAMP8, but fail toaccumulate STX17 on autophagosomes, which is the most likelyexplanation for the lack of fusion between autophagosomes andlysosomes (PubMed:27628032). Required for normal degradation ofthe contents of autophagosomes (PubMed:27628032). Required forefficient MHCII-mediated presentation of exogenous antigens viaits function in lysosomal protein degradation; antigenic peptidesgenerated by proteases in the endosomal/lysosomal compartment arecaptured by nascent MHCII subunits (PubMed:20518820). Is notrequired for efficient MHCII-mediated presentation of endogenousantigens (PubMed:20518820). {ECO:0000250|UniProtKB:P17046,ECO:0000269|PubMed:11082038, ECO:0000269|PubMed:18644871,ECO:0000269|PubMed:20518820, ECO:0000269|PubMed:24880125,ECO:0000269|PubMed:27628032, ECO:0000269|PubMed:8662539}. Isoform LAMP-2C: Modulates chaperone-mediated autophagy.Decreases presentation of endogenous antigens by MHCII. Does notplay a role in the presentation of exogenous and membrane-derivedantigens by MHCII. {ECO:0000269|PubMed:26856698}. |
| 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 GATA2_LAMP2 |
| 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 GATA2_LAMP2 |
| 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 |
| - 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 GATA2_LAMP2 |
| 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 GATA2_LAMP2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | GATA2 | C0023467 | Leukemia, Myelocytic, Acute | 2 | CTD_human |
| Hgene | GATA2 | C3280030 | IMMUNODEFICIENCY 21 | 2 | ORPHANET;UNIPROT |
| Hgene | GATA2 | C3463824 | MYELODYSPLASTIC SYNDROME | 2 | CTD_human;HPO;UNIPROT |
| Hgene | GATA2 | C0007302 | Cartilage Diseases | 1 | CTD_human |
| Hgene | GATA2 | C0024236 | Lymphedema | 1 | CTD_human;HPO |
| Hgene | GATA2 | C0243050 | Cardiovascular Abnormalities | 1 | CTD_human |
| Hgene | GATA2 | C0349639 | Juvenile Myelomonocytic Leukemia | 1 | CTD_human |
| Hgene | GATA2 | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
| Hgene | GATA2 | C3279664 | Emberger syndrome | 1 | ORPHANET;UNIPROT |
| Tgene | LAMP2 | C0038220 | Status Epilepticus | 1 | CTD_human |
| Tgene | LAMP2 | C0878677 | Glycogen Storage Disease Type IIb | 1 | CTD_human;ORPHANET;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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