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: 140775
MIM: 617074
HGNC: 17921
Ensembl: ENSG00000176994
Variants:
dbSNP: 140775
ClinVar: 140775
TCGA: ENSG00000176994
COSMIC: SMCR8
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000176994 | ENST00000406438 | Q8TEV9 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38064514 | 2023 | ALS-linked C9orf72-SMCR8 complex is a negative regulator of primary ciliogenesis. | 1 |
| 38064514 | 2023 | ALS-linked C9orf72-SMCR8 complex is a negative regulator of primary ciliogenesis. | 1 |
| 32303654 | 2020 | Cryo-EM structure of C9ORF72-SMCR8-WDR41 reveals the role as a GAP for Rab8a and Rab11a. | 43 |
| 32678027 | 2020 | C9orf72-associated SMCR8 protein binds in the ubiquitin pathway and with proteins linked with neurological disease. | 11 |
| 32848248 | 2020 | Structure of the C9orf72 ARF GAP complex that is haploinsufficient in ALS and FTD. | 39 |
| 32303654 | 2020 | Cryo-EM structure of C9ORF72-SMCR8-WDR41 reveals the role as a GAP for Rab8a and Rab11a. | 43 |
| 32678027 | 2020 | C9orf72-associated SMCR8 protein binds in the ubiquitin pathway and with proteins linked with neurological disease. | 11 |
| 32848248 | 2020 | Structure of the C9orf72 ARF GAP complex that is haploinsufficient in ALS and FTD. | 39 |
| 28195531 | 2017 | Multiplex image-based autophagy RNAi screening identifies SMCR8 as ULK1 kinase activity and gene expression regulator. | 50 |
| 28195531 | 2017 | Multiplex image-based autophagy RNAi screening identifies SMCR8 as ULK1 kinase activity and gene expression regulator. | 50 |
| 27193190 | 2016 | The ALS/FTLD associated protein C9orf72 associates with SMCR8 and WDR41 to regulate the autophagy-lysosome pathway. | 171 |
| 27193190 | 2016 | The ALS/FTLD associated protein C9orf72 associates with SMCR8 and WDR41 to regulate the autophagy-lysosome pathway. | 171 |
Citation
Dessen P
SMCR8 (SMCR8-C9orf72 complex subunit)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/73546/smcr8-(smcr8-c9orf72-complex-subunit)
