Identity
HGNC
LOCATION
19q13.31
LOCUSID
ALIAS
C19orf61,F17127_1,HBMS
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: 56006
MIM: 613176
HGNC: 25763
Ensembl: ENSG00000105771
Variants:
dbSNP: 56006
ClinVar: 56006
TCGA: ENSG00000105771
COSMIC: SMG9
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34761517 | 2022 | Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait. | 2 |
| 35087184 | 2022 | A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development. | 7 |
| 35321723 | 2022 | Identification of a novel compound heterozygous SMG9 variants in a Chinese family with heart and brain malformation syndrome using whole exome sequencing. | 0 |
| 34761517 | 2022 | Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait. | 2 |
| 35087184 | 2022 | A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development. | 7 |
| 35321723 | 2022 | Identification of a novel compound heterozygous SMG9 variants in a Chinese family with heart and brain malformation syndrome using whole exome sequencing. | 0 |
| 34146907 | 2021 | SMG9 drives ferroptosis by directly inhibiting GPX4 degradation. | 18 |
| 34146907 | 2021 | SMG9 drives ferroptosis by directly inhibiting GPX4 degradation. | 18 |
| 32412169 | 2020 | SMG9-deficiency syndrome caused by a homozygous missense variant: Expanding the genotypic and phenotypic spectrum of this developmental disorder. | 3 |
| 32469312 | 2020 | Structure of substrate-bound SMG1-8-9 kinase complex reveals molecular basis for phosphorylation specificity. | 16 |
| 32412169 | 2020 | SMG9-deficiency syndrome caused by a homozygous missense variant: Expanding the genotypic and phenotypic spectrum of this developmental disorder. | 3 |
| 32469312 | 2020 | Structure of substrate-bound SMG1-8-9 kinase complex reveals molecular basis for phosphorylation specificity. | 16 |
| 30902786 | 2019 | MicroRNA 4651 regulates nonsense-mediated mRNA decay by targeting SMG9 mRNA. | 2 |
| 31729466 | 2019 | Cryo-EM structure of SMG1-SMG8-SMG9 complex. | 13 |
| 31792449 | 2019 | InsP(6) binding to PIKK kinases revealed by the cryo-EM structure of an SMG1-SMG8-SMG9 complex. | 20 |
Citation
Dessen P
SMG9 (SMG9 nonsense mediated mRNA decay factor)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/73559/
