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 |
|---|---|---|---|---|---|
OMIM IDMIM:614260 Ensembl IDEnsembl:ENSG00000147894 HGNC IDHGNC:HGNC:28337 PHARMGKB IDPA134908144 Map Location9p21.2 | |||||
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 |
Gene expression in normal tissue: C9orf72
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in C9orf72
Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP2857 | Mesodermal Commitment Pathway |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in C9orf72
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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