C9orf72
Summary: The protein encoded by this gene plays an important role in the regulation of endosomal trafficking, and has been shown to interact with Rab proteins that are involved in autophagy and endocytic transport. Expansion of a GGGGCC repeat from 2-22 copies to 700-1600 copies in the intronic sequence between alternate 5' exons in transcripts from this gene is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) (PMID: 21944778, 21944779). Studies suggest that hexanucleotide expansions could result in the selective stabilization of repeat-containing pre-mRNA, and the accumulation of insoluble dipeptide repeat protein aggregates that could be pathogenic in FTD-ALS patients (PMID: 23393093). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2016].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| chromosome 9 open reading frame 72 | MIM:614260 | Ensembl:ENSG00000147894 | HGNC:HGNC:28337 | PA134908144 | 9p21.2 |
GO terms in C9orf72
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IDA | GO:0000932 | P-body |
| CC | IDA | GO:0005615 | extracellular space |
| CC | IDA | GO:0005634 | nucleus |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | IDA | GO:0005764 | lysosome |
| CC | IBA | GO:0005768 | endosome |
| CC | IDA | GO:0005768 | endosome |
| CC | IBA | GO:0005776 | autophagosome |
| CC | IDA | GO:0005776 | autophagosome |
| CC | IDA | GO:0010494 | cytoplasmic stress granule |
| CC | IEA | GO:0030425 | dendrite |
| CC | IEA | GO:0031965 | nuclear membrane |
| CC | IDA | GO:0032045 | guanyl-nucleotide exchange factor complex |
| CC | IEA | GO:0043204 | perikaryon |
| CC | IDA | GO:0044295 | axonal growth cone |
| CC | IDA | GO:0044304 | main axon |
| CC | IDA | GO:1990316 | Atg1/ULK1 kinase complex |
| BP | IMP | GO:0001933 | negative regulation of protein phosphorylation |
| BP | IBA | GO:0006897 | endocytosis |
| BP | IMP | GO:0006897 | endocytosis |
| BP | IBA | GO:0006914 | autophagy |
| BP | IMP | GO:0006914 | autophagy |
| BP | IMP | GO:0010506 | regulation of autophagy |
| BP | IGI | GO:0016239 | positive regulation of macroautophagy |
| BP | IMP | GO:0016239 | positive regulation of macroautophagy |
| BP | IMP | GO:0034063 | stress granule assembly |
| BP | IMP | GO:0048675 | axon extension |
| BP | IMP | GO:0110053 | regulation of actin filament organization |
| BP | ISS | GO:1902774 | late endosome to lysosome transport |
| BP | IMP | GO:1903432 | regulation of TORC1 signaling |
| BP | IMP | GO:2000785 | regulation of autophagosome assembly |
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0017112 | Rab guanyl-nucleotide exchange factor activity |
| MF | IDA | GO:0017137 | Rab GTPase binding |
Gene expression in normal tissue: C9orf72
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in C9orf72
Copyright © 2018 Modellab | All Rights Reserved
Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.