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Fusion gene ID: 32793 |
FusionGeneSummary for SCARB2_LAMP2 |
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Fusion gene information | Fusion gene name: SCARB2_LAMP2 | Fusion gene ID: 32793 | Hgene | Tgene | Gene symbol | SCARB2 | LAMP2 | Gene ID | 950 | 3920 |
Gene name | scavenger receptor class B member 2 | lysosomal associated membrane protein 2 | |
Synonyms | AMRF|CD36L2|EPM4|HLGP85|LGP85|LIMP-2|LIMPII|SR-BII | CD107b|LAMP-2|LAMPB|LGP-96|LGP110 | |
Cytomap | 4q21.1 | Xq24 | |
Type of gene | protein-coding | protein-coding | |
Description | lysosome membrane protein 285 kDa lysosomal membrane sialoglycoprotein85 kDa lysosomal sialoglycoprotein scavenger receptor class B, member 2CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II | lysosome-associated membrane glycoprotein 2CD107 antigen-like family member B | |
Modification date | 20180519 | 20180519 | |
UniProtAcc | Q14108 | P13473 | |
Ensembl transtripts involved in fusion gene | ENST00000264896, ENST00000452464, | ENST00000434600, ENST00000538785, ENST00000200639, ENST00000371335, ENST00000540603, | |
Fusion gene scores | * DoF score | 11 X 9 X 5=495 | 6 X 6 X 1=36 |
# samples | 11 | 6 | |
** MAII score | log2(11/495*10)=-2.16992500144231 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/36*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: SCARB2 [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
![]() (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 | BE890392 | SCARB2 | chr4 | 77080922 | - | LAMP2 | chrX | 119571799 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 | ENST00000264896 | ENST00000434600 | SCARB2 | chr4 | 77080922 | - | LAMP2 | chrX | 119571799 | - |
intron-intron | ENST00000264896 | ENST00000538785 | SCARB2 | chr4 | 77080922 | - | LAMP2 | chrX | 119571799 | - |
intron-intron | ENST00000264896 | ENST00000200639 | SCARB2 | chr4 | 77080922 | - | LAMP2 | chrX | 119571799 | - |
intron-3UTR | ENST00000264896 | ENST00000371335 | SCARB2 | chr4 | 77080922 | - | LAMP2 | chrX | 119571799 | - |
intron-intron | ENST00000264896 | ENST00000540603 | SCARB2 | chr4 | 77080922 | - | LAMP2 | chrX | 119571799 | - |
intron-intron | ENST00000452464 | ENST00000434600 | SCARB2 | chr4 | 77080922 | - | LAMP2 | chrX | 119571799 | - |
intron-intron | ENST00000452464 | ENST00000538785 | SCARB2 | chr4 | 77080922 | - | LAMP2 | chrX | 119571799 | - |
intron-intron | ENST00000452464 | ENST00000200639 | SCARB2 | chr4 | 77080922 | - | LAMP2 | chrX | 119571799 | - |
intron-3UTR | ENST00000452464 | ENST00000371335 | SCARB2 | chr4 | 77080922 | - | LAMP2 | chrX | 119571799 | - |
intron-intron | ENST00000452464 | ENST00000540603 | SCARB2 | chr4 | 77080922 | - | LAMP2 | chrX | 119571799 | - |
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FusionProtFeatures for SCARB2_LAMP2 |
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Hgene | Tgene |
SCARB2 | LAMP2 |
Acts as a lysosomal receptor for glucosylceramidase(GBA) targeting. {ECO:0000269|PubMed:18022370}. (Microbial infection) Acts as a receptor for enterovirus71. {ECO:0000269|PubMed:19543282}. | 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}. |
![]() * 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 SCARB2_LAMP2 |
![]() (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 SCARB2_LAMP2 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for SCARB2_LAMP2 |
![]() (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 SCARB2_LAMP2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | SCARB2 | C0751779 | Action Myoclonus-Renal Failure Syndrome | 1 | CTD_human;ORPHANET;UNIPROT |
Tgene | LAMP2 | C0038220 | Status Epilepticus | 1 | CTD_human |
Tgene | LAMP2 | C0878677 | Glycogen Storage Disease Type IIb | 1 | CTD_human;ORPHANET;UNIPROT |