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: 57190
MIM: 606210
HGNC: 15999
Ensembl: ENSG00000162430
Variants:
dbSNP: 57190
ClinVar: 57190
TCGA: ENSG00000162430
COSMIC: SELENON
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000162430 | ENST00000354177 | H9KV50 |
| ENSG00000162430 | ENST00000361547 | Q9NZV5 |
| ENSG00000162430 | ENST00000374315 | Q9NZV5 |
| ENSG00000162430 | ENST00000630065 | A0A0D9SGI9 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 32661288 | 2021 | Defective endoplasmic reticulum-mitochondria contacts and bioenergetics in SEPN1-related myopathy. | 21 |
| 33762497 | 2021 | [Selenoprotein-related myopathy in a patient with old-age-onset type 2 respiratory failure: a case report]. | 1 |
| 32661288 | 2021 | Defective endoplasmic reticulum-mitochondria contacts and bioenergetics in SEPN1-related myopathy. | 21 |
| 33762497 | 2021 | [Selenoprotein-related myopathy in a patient with old-age-onset type 2 respiratory failure: a case report]. | 1 |
| 32796131 | 2020 | The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series. | 23 |
| 32817544 | 2020 | Selenoprotein N is an endoplasmic reticulum calcium sensor that links luminal calcium levels to a redox activity. | 30 |
| 32864802 | 2020 | The first report of two homozygous sequence variants in FKRP and SELENON genes associated with syndromic congenital muscular dystrophy in Iran: Further expansion of the clinical phenotypes. | 1 |
| 33037864 | 2020 | Selenoprotein N-related myopathy: a retrospective natural history study to guide clinical trials. | 10 |
| 32796131 | 2020 | The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series. | 23 |
| 32817544 | 2020 | Selenoprotein N is an endoplasmic reticulum calcium sensor that links luminal calcium levels to a redox activity. | 30 |
| 32864802 | 2020 | The first report of two homozygous sequence variants in FKRP and SELENON genes associated with syndromic congenital muscular dystrophy in Iran: Further expansion of the clinical phenotypes. | 1 |
| 33037864 | 2020 | Selenoprotein N-related myopathy: a retrospective natural history study to guide clinical trials. | 10 |
| 31880214 | 2019 | High glucose and TGF-β1 reduce expression of endoplasmic reticulum-resident selenoprotein S and selenoprotein N in human mesangial cells. | 6 |
| 31880214 | 2019 | High glucose and TGF-β1 reduce expression of endoplasmic reticulum-resident selenoprotein S and selenoprotein N in human mesangial cells. | 6 |
| 26780752 | 2016 | SEPN1-related myopathy in three patients: novel mutations and diagnostic clues. | 7 |
Citation
Dessen P
SELENON (selenoprotein N)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56019/
