Gene description for DFNA5
Gene name deafness, autosomal dominant 5
Gene symbol DFNA5
Other names/aliases ICERE-1
Species Homo sapiens
 Database cross references - DFNA5
ExoCarta ExoCarta_1687
Vesiclepedia VP_1687
Entrez Gene 1687
HGNC 2810
MIM 608798
UniProt O60443  
 DFNA5 identified in exosomes derived from the following tissue/cell type
Mesenchymal stem cells 36408942    
Ovarian cancer cells 23333927    
Ovarian cancer cells 23333927    
Retinal pigment epithelial cells 35333565    
Retinal pigment epithelial cells 35333565    
 Gene ontology annotations for DFNA5
Molecular Function
    protein binding GO:0005515 IPI
    phosphatidylinositol-4,5-bisphosphate binding GO:0005546 IDA
    wide pore channel activity GO:0022829 IDA
    cardiolipin binding GO:1901612 IDA
Biological Process
    positive regulation of immune response to tumor cell GO:0002839 IDA
    sensory perception of sound GO:0007605 TAS
    negative regulation of cell population proliferation GO:0008285 IDA
    programmed cell death GO:0012501 IMP
    inner ear auditory receptor cell differentiation GO:0042491 IEA
    positive regulation of MAPK cascade GO:0043410 IMP
    transmembrane transport GO:0055085 IEA
    pyroptotic inflammatory response GO:0070269 IDA
    cellular response to tumor necrosis factor GO:0071356 IDA
    cellular response to virus GO:0098586 IDA
    granzyme-mediated programmed cell death signaling pathway GO:0140507 IDA
    pyroptotic cell death GO:0141201 IDA
    positive regulation of intrinsic apoptotic signaling pathway GO:2001244 IDA
Subcellular Localization
    cytoplasm GO:0005737 IBA
    cytosol GO:0005829 IDA
    cytosol GO:0005829 TAS
    plasma membrane GO:0005886 IDA
    membrane GO:0016020 IDA
    membrane GO:0016020 IDA
 Experiment description of studies that identified DFNA5 in exosomes
1
Experiment ID 488
MISEV standards
EM
Biophysical techniques
CD9|CD81|CD63|GAPDH|SDCBP|LAMP1|TFRC|UCHL1|FLOT2|LAMP2|FLOT1|ICAM1|RAB5B|CD151|RAB35|TSG101|RAB5A|CD82
Enriched markers
CANX
Negative markers
NTA
Particle analysis
Identified molecule Protein
Identification method Mass spectrometry
PubMed ID 36408942    
Organism Homo sapiens
Experiment description Quantitative proteomic analysis of exosomes from umbilical cord mesenchymal stem cells and rat bone marrow stem cells
Authors "Xu X, Yin F, Guo M, Gan G, Lin G, Wen C, Wang J, Song P, Wang J, Qi ZQ, Zhong CQ."
Journal name Proteomics
Publication year 2023
Sample Mesenchymal stem cells
Sample name UCMSC
Isolation/purification methods Differential centrifugation
Filtration
Ultracentrifugation
Flotation density -
Molecules identified in the study Protein
Methods used in the study Western blotting
Mass spectometry
2
Experiment ID 211
MISEV standards
EM
Biophysical techniques
TSG101|Alix|EpCAM|TFRC
Enriched markers
cytochrome c|GOLGA2
Negative markers
Particle analysis
Identified molecule protein
Identification method Mass spectrometry
PubMed ID 23333927    
Organism Homo sapiens
Experiment description Characterization and proteomic analysis of ovarian cancer-derived exosomes.
Authors "Liang B, Peng P, Chen S, Li L, Zhang M, Cao D, Yang J, Li H, Gui T, Li X, Shen K."
Journal name J Proteomics
Publication year 2013
Sample Ovarian cancer cells
Sample name IGROV1
Isolation/purification methods Differential centrifugation
Ultracentrifugation
Sucrose density gradient
Flotation density 1.09-1.15 g/mL
Molecules identified in the study Protein
Methods used in the study Mass spectrometry
3
Experiment ID 212
MISEV standards
CEM
Biophysical techniques
TSG101|Alix|EpCAM|TFRC
Enriched markers
Cytochrome C|GOLGA2
Negative markers
Particle analysis
Identified molecule protein
Identification method Mass spectrometry
PubMed ID 23333927    
Organism Homo sapiens
Experiment description Characterization and proteomic analysis of ovarian cancer-derived exosomes.
Authors "Liang B, Peng P, Chen S, Li L, Zhang M, Cao D, Yang J, Li H, Gui T, Li X, Shen K."
Journal name J Proteomics
Publication year 2013
Sample Ovarian cancer cells
Sample name OVCAR-3
Isolation/purification methods Differential centrifugation
Ultracentrifugation
Sucrose density gradient
Flotation density 1.09-1.15 g/mL
Molecules identified in the study Protein
Methods used in the study Mass spectrometry
4
Experiment ID 834
MISEV standards
EM
Biophysical techniques
LAMP2|CD63|FLOT1|ITGA2B|ICAM1|CD9|CD151|TFRC|RAB5A|GAPDH|AQP1|TSG101
Enriched markers
CANX
Negative markers
NTA
Particle analysis
Identified molecule Protein
Identification method Mass spectrometry
PubMed ID 35333565    
Organism Homo sapiens
Experiment description LAMP2A regulates the loading of proteins into exosomes
Authors "Ferreira JV, da Rosa Soares A, Ramalho J, Máximo Carvalho C, Cardoso MH, Pintado P, Carvalho AS, Beck HC, Matthiesen R, Zuzarte M, Girão H, van Niel G, Pereira P"
Journal name Sci Adv
Publication year 2022
Sample Retinal pigment epithelial cells
Sample name ARPE-19
Isolation/purification methods Differential centrifugation
Filtration
Ultracentrifugation
Flotation density -
Molecules identified in the study Protein
Methods used in the study Western blotting
Mass spectrometry
5
Experiment ID 835
MISEV standards
EM
Biophysical techniques
CD63|FLOT1|ITGA2B|ICAM1|CD9|CD151|TFRC|RAB5A|GAPDH|AQP1|TSG101
Enriched markers
CANX
Negative markers
NTA
Particle analysis
Identified molecule Protein
Identification method Mass spectrometry
PubMed ID 35333565    
Organism Homo sapiens
Experiment description LAMP2A regulates the loading of proteins into exosomes
Authors "Ferreira JV, da Rosa Soares A, Ramalho J, Máximo Carvalho C, Cardoso MH, Pintado P, Carvalho AS, Beck HC, Matthiesen R, Zuzarte M, Girão H, van Niel G, Pereira P"
Journal name Sci Adv
Publication year 2022
Sample Retinal pigment epithelial cells
Sample name ARPE-19
Isolation/purification methods Differential centrifugation
Filtration
Ultracentrifugation
Flotation density -
Molecules identified in the study Protein
Methods used in the study Western blotting
Mass spectrometry
 Protein-protein interactions for DFNA5
  Protein Interactor ExoCarta ID Identification method PubMed Species
1 ZSCAN29  
Affinity Capture-MS Homo sapiens
Affinity Capture-MS Homo sapiens
2 GYPA  
Affinity Capture-MS Homo sapiens
3 PTN  
Two-hybrid Homo sapiens
4 CEP63  
Affinity Capture-MS Homo sapiens
5 MUL1  
Affinity Capture-MS Homo sapiens
Affinity Capture-MS Homo sapiens
6 TIFA  
Two-hybrid Homo sapiens
7 PLEC 5339
Affinity Capture-MS Homo sapiens
Affinity Capture-MS Homo sapiens
8 SIGLECL1  
Affinity Capture-MS Homo sapiens
Affinity Capture-MS Homo sapiens
9 KIF14 9928
Affinity Capture-MS Homo sapiens
10 BTNL9  
Affinity Capture-MS Homo sapiens
11 KLC3  
Affinity Capture-MS Homo sapiens
12 CD70 970
Affinity Capture-MS Homo sapiens
13 EFNB1 1947
Affinity Capture-MS Homo sapiens
14 C19orf38  
Affinity Capture-MS Homo sapiens
15 EGFR 1956
Affinity Capture-MS Homo sapiens
16 OCIAD1 54940
Affinity Capture-MS Homo sapiens
17 RPS3 6188
Affinity Capture-MS Homo sapiens
18 MRS2  
Affinity Capture-MS Homo sapiens
Affinity Capture-MS Homo sapiens
19 APEX1 328
Affinity Capture-RNA Homo sapiens
20 BIRC6 57448
Affinity Capture-MS Homo sapiens
21 COMTD1 118881
Affinity Capture-MS Homo sapiens
22 C16orf58 64755
Affinity Capture-MS Homo sapiens
23 NTRK1 4914
Affinity Capture-MS Homo sapiens
24 GPR45  
Affinity Capture-MS Homo sapiens
25 HVCN1 84329
Affinity Capture-MS Homo sapiens
26 FAM174A 345757
Affinity Capture-MS Homo sapiens
27 AGPAT6 137964
Affinity Capture-MS Homo sapiens
Affinity Capture-MS Homo sapiens
28 TPST2 8459
Affinity Capture-MS Homo sapiens
29 SCN2B  
Affinity Capture-MS Homo sapiens
Affinity Capture-MS Homo sapiens
Affinity Capture-MS Homo sapiens
30 SNW1 22938
Affinity Capture-MS Homo sapiens
31 SLC27A2 11001
Affinity Capture-MS Homo sapiens
Affinity Capture-MS Homo sapiens
32 UQCRH 7388
Affinity Capture-MS Homo sapiens
33 EPHA1 2041
Affinity Capture-MS Homo sapiens
Affinity Capture-MS Homo sapiens
34 B3GNT8  
Affinity Capture-MS Homo sapiens
35 TACSTD2 4070
Affinity Capture-MS Homo sapiens
36 CDC5L 988
Affinity Capture-MS Homo sapiens
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