GENE：C9orf72
GeneInfo:
| GeneAttribute | GeneDescription |
|---|---|
| GeneSymbol | C9orf72 |
| FullNmae | C9orf72-SMCR8 complex subunit |
| LocusType | gene with protein product |
| Status | Approved |
| HGNC_id | HGNC:28337 |
| EnsembleID | ENSG00000147894 |
| Uniprot | Q96LT7 |
Protein Structure:
Gene Description in Publicaton:
| GeneSymbol | CellDeathType | PMID | Description | GeneType |
|---|---|---|---|---|
| C9orf72 | autophagy | 38538696 | The 18 RCD signatures collected from previous studies. Supplementary Table of Figures.xlsx (https://github.com/zwxiangya/RCDscore) | retulator signature |
| C9orf72 | autophagy | 36341760 | The PCD-related genes contained the key regulatory genes of twelve PCD patterns which is mentioned above. Genes were collected from GSEA gene sets, KEGG, review articles, and manual collation [10]. The ultimate gene list was the concatenation regulatory genes of twelve PCD patterns. | regulator signature |
Go Annotation:
| GeneSymbol | Go id |
|---|---|
| C9orf72 | GO:0000932,GO:0001933,GO:0005085,GO:0005515,GO:0005615,GO:0005634,GO:0005737,GO:0005764,GO:0005768,GO:0005768,GO:0005776,GO:0005776,GO:0005829,GO:0006897,GO:0006897,GO:0006914,GO:0006914,GO:0010494,GO:0010506,GO:0016239,GO:0016239,GO:0030425,GO:0031267,GO:0031965,GO:0032045,GO:0032880,GO:0034063,GO:0043204,GO:0043231,GO:0043547,GO:0044295,GO:0044304,GO:0048675,GO:0090543,GO:0098793,GO:0098794,GO:0110053,GO:1902774,GO:1903432,GO:2000785 |
KEGG Annotation:
| GeneSymbol | GeneID | Pathway | Pathway Name |
|---|---|---|---|
| C9orf72 | hsa:203228 | path:hsa04140 | Autophagy - animal - Homo sapiens (human) |
| C9orf72 | hsa:203228 | path:hsa05014 | Amyotrophic lateral sclerosis - Homo sapiens (human) |
| C9orf72 | hsa:203228 | path:hsa05022 | Pathways of neurodegeneration - multiple diseases - Homo sapiens (human) |
Protein-Protein Interaction(String):
Signalink 3.0 modificators
| Source | Target | Pmid | Interactiontype | Methods | Database |
|---|---|---|---|---|---|
| ETS1 | C9ORF72 | 18971253 20019798 | trascriptional regulation,stimulation | inferred by curator,chromatin immunoprecipitation assay | TFlink |
| SMARCA4 | C9ORF72 | 18971253 | trascriptional regulation,stimulation | inferred by curator | TFlink |
| CEBPA | C9ORF72 | 18971253 | trascriptional regulation,stimulation | inferred by curator | TFlink |
| CTCF | C9ORF72 | 18971253 | trascriptional regulation,stimulation | inferred by curator | TFlink |
| EGR1 | C9ORF72 | 18971253 | trascriptional regulation,stimulation | inferred by curator | TFlink |
| FOXA1 | C9ORF72 | 18971253 | trascriptional regulation,stimulation | inferred by curator | TFlink |
| FOXP1 | C9ORF72 | 18971253 | trascriptional regulation,stimulation | inferred by curator | TFlink |
| GATA2 | C9ORF72 | 18971253 | trascriptional regulation,stimulation | inferred by curator | TFlink |
| HNF4A | C9ORF72 | 18971253 | trascriptional regulation,stimulation | inferred by curator | TFlink |
| E2F2 | C9ORF72 | N/A | trascriptional regulation,stimulation | inferred by curator | TFlink |
| Source | Target | Pmid | Interactiontype | Methods | Database |
|---|---|---|---|---|---|
| NMI | C9ORF72 | 24234451 25348397 25416956 | physical association | physical interaction,two hybrid array,two hybrid prey pooling approach,validated two hybrid | ComPPI,IntAct |
| CRX | C9ORF72 | 24234451 25348397 25416956 | physical association | physical interaction,two hybrid array,two hybrid prey pooling approach,validated two hybrid | ComPPI,IntAct |
| TOMM22 | C9ORF72 | 24234451 25348397 29568061 | association | proximity-dependent biotin identification | ComPPI,IntAct |
| COIL | C9ORF72 | 24234451 25348397 | physical association | two hybrid,two hybrid array,two hybrid prey pooling approach | ComPPI,IntAct |
| EIF2B2 | C9ORF72 | 21516116 24234451 25348397 | physical association | two hybrid,physical interaction,two hybrid array,two hybrid prey pooling approach | ComPPI,IntAct |
| REL | C9ORF72 | 24234451 25348397 25416956 | physical association | physical interaction,two hybrid array,two hybrid prey pooling approach,validated two hybrid | ComPPI,IntAct |
| CANX | C9ORF72 | 24234451 25348397 29568061 | association | proximity-dependent biotin identification | ComPPI,IntAct |
| RAB1A | C9ORF72 | 24234451 25348397 27334615 | physical association | proximity ligation assay | ComPPI,IntAct |
| SRPK1 | C9ORF72 | 23602568 24234451 25348397 | phosphorylation reaction | physical interaction,protein kinase assay | ComPPI,IntAct |
| MMS19 | C9ORF72 | 25348397 | N/A | physical interaction | ComPPI |
| RAB9A | C9ORF72 | 24234451 25348397 29568061 | association | proximity-dependent biotin identification | ComPPI,IntAct |
| ELAVL1 | C9ORF72 | 25348397 | N/A | physical interaction | ComPPI |
| RB1CC1 | C9ORF72 | 20562859 24234451 25348397 | association | anti tag coimmunoprecipitation | ComPPI,IntAct |
| TOMM20 | C9ORF72 | 24234451 25348397 29568061 | association | proximity-dependent biotin identification | ComPPI,IntAct |
| ULK1 | C9ORF72 | 24234451 25348397 27334615 | physical association | proximity ligation assay | ComPPI,IntAct |
| TGOLN2 | C9ORF72 | 24234451 25348397 29568061 | association | proximity-dependent biotin identification | ComPPI,IntAct |
| APP | C9ORF72 | 25348397 | N/A | physical interaction | ComPPI |
| SMCR8 | C9ORF72 | 24234451 25348397 27107012 | physical association | two hybrid array,two hybrid prey pooling approach,validated two hybrid,barcode fusion genetics two hybrid | ComPPI,IntAct |