Identity
HGNC
LOCATION
9p21.2
LOCUSID
ALIAS
ALSFTD,DENND9,DENNL72,FTDALS,FTDALS1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 203228
MIM: 614260
HGNC: 28337
Ensembl: ENSG00000147894
Variants:
dbSNP: 203228
ClinVar: 203228
TCGA: ENSG00000147894
COSMIC: C9orf72
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA164713366 | Tumor necrosis factor alpha (TNF-alpha) inhibitors | Chemical | ClinicalAnnotation | associated | PD | ||
| PA443434 | Arthritis, Rheumatoid | Disease | ClinicalAnnotation | associated | PD |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37525497 | 2024 | Pathogenesis underlying hexanucleotide repeat expansions in C9orf72 gene in amyotrophic lateral sclerosis. | 0 |
| 37752346 | 2024 | Artificial microRNA suppresses C9ORF72 variants and decreases toxic dipeptide repeat proteins in vivo. | 2 |
| 37861203 | 2024 | Assessment of risk of ALS conferred by the GGGGCC hexanucleotide repeat expansion in C9orf72 among first-degree relatives of patients with ALS carrying the repeat expansion. | 1 |
| 38099605 | 2024 | Analysis of normal C9orf72 repeat length as possible disease modifier in amyotrophic lateral sclerosis. | 0 |
| 38247869 | 2024 | ALS' Perfect Storm: C9orf72-Associated Toxic Dipeptide Repeats as Potential Multipotent Disruptors of Protein Homeostasis. | 0 |
| 38254109 | 2024 | Beyond C9orf72: repeat expansions and copy number variations as risk factors of amyotrophic lateral sclerosis across various populations. | 1 |
| 38431841 | 2024 | Neuromuscular organoids model spinal neuromuscular pathologies in C9orf72 amyotrophic lateral sclerosis. | 0 |
| 38469975 | 2024 | Distinct neural signatures of pulvinar in C9orf72 amyotrophic lateral sclerosis mutation carriers and noncarriers. | 1 |
| 38597682 | 2024 | Somatic and intergenerational G4C2 hexanucleotide repeat instability in a human C9orf72 knock-in mouse model. | 0 |
| 38641715 | 2024 | Abundant transcriptomic alterations in the human cerebellum of patients with a C9orf72 repeat expansion. | 0 |
| 38738637 | 2024 | Antisense RNA C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms a triplex-like structure and binds small synthetic ligand. | 0 |
| 37525497 | 2024 | Pathogenesis underlying hexanucleotide repeat expansions in C9orf72 gene in amyotrophic lateral sclerosis. | 0 |
| 37752346 | 2024 | Artificial microRNA suppresses C9ORF72 variants and decreases toxic dipeptide repeat proteins in vivo. | 2 |
| 37861203 | 2024 | Assessment of risk of ALS conferred by the GGGGCC hexanucleotide repeat expansion in C9orf72 among first-degree relatives of patients with ALS carrying the repeat expansion. | 1 |
| 38099605 | 2024 | Analysis of normal C9orf72 repeat length as possible disease modifier in amyotrophic lateral sclerosis. | 0 |
Citation
Dessen P
C9orf72 (C9orf72-SMCR8 complex subunit)
Atlas Genet Cytogenet Oncol Haematol. 2019-04-01
Online version: http://atlasgeneticsoncology.org/gene/57902/
