SELENON Chromosome 1
Selenoprotein N
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What This Gene Does
This gene encodes a glycoprotein that is localized in the endoplasmic reticulum. It plays an important role in cell protection against oxidative stress, and in the regulation of redox-related calcium homeostasis. Mutations in this gene are associated with early onset muscle disorders, referred to as SEPN1-related myopathy. SEPN1-related myopathy consists of 4 autosomal recessive disorders, originally thought to be separate entities: rigid spine muscular dystrophy (RSMD1), the classical form of multiminicore disease, desmin related myopathy with Mallory-body like inclusions, and congenital fiber-type disproportion (CFTD). This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. A second stop-codon redefinition element (SRE) adjacent to the UGA codon has been identified in this gene (PMID:15791204). SRE is a phylogenetically conserved stem-loop structure that stimulates readthrough at the UGA codon, and augments the Sec insertion efficiency by SECIS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2016]
Gene Info
Gene Group
"EF-hand domain containing|Selenoproteins"
Locus Type
gene with protein product
Location
1p36.11
Ensembl
ENSG00000162430
Associated Conditions (13)
Eichsfeld type congenital muscular dystrophy
Inborn genetic diseases
Congenital myopathy with fiber type disproportion
SEPN1-related disorder
Congenital myopathy 4A
autosomal dominant
SELENON-related myopathy
Malignant tumor of esophagus
SELENON-related disorder
See cases
Abnormality of the musculature
Muscular dystrophy
Cleft lip/palate
Key Variants
RS1050852336
Conflicting classifications of pathogenicity
Eichsfeld type congenital muscular dystrophy, Inborn genetic diseases, Eichsfeld type congenital muscular dystrophy
Health Risk
RS1176143542
Conflicting classifications of pathogenicity
Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
Health Risk
RS121908188
Conflicting classifications of pathogenicity
Congenital myopathy with fiber type disproportion, Eichsfeld type congenital muscular dystrophy, SEPN1-related disorder
Health Risk
RS1286430947
Conflicting classifications of pathogenicity
Eichsfeld type congenital muscular dystrophy, Inborn genetic diseases, Eichsfeld type congenital muscular dystrophy
Health Risk
RS139020143
Conflicting classifications of pathogenicity
SEPN1-related disorder, Eichsfeld type congenital muscular dystrophy, SELENON-related disorder
Health Risk
RS141295085
Conflicting classifications of pathogenicity
Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
Health Risk
RS149623434
Conflicting classifications of pathogenicity
Eichsfeld type congenital muscular dystrophy, SELENON-related disorder, Eichsfeld type congenital muscular dystrophy
Health Risk
RS183272965
Conflicting classifications of pathogenicity
Congenital myopathy with fiber type disproportion, Eichsfeld type congenital muscular dystrophy, SELENON-related disorder
Health Risk
RS184807941
Conflicting classifications of pathogenicity
SEPN1-related disorder, SEPN1-related disorder
Health Risk
RS199742668
Conflicting classifications of pathogenicity
SEPN1-related disorder, Eichsfeld type congenital muscular dystrophy, SELENON-related disorder
Health Risk
RS199911454
Conflicting classifications of pathogenicity
SEPN1-related disorder, Eichsfeld type congenital muscular dystrophy, SEPN1-related disorder
Health Risk
RS200128474
Conflicting classifications of pathogenicity
Eichsfeld type congenital muscular dystrophy, SEPN1-related disorder, Congenital myopathy with fiber type disproportion
Health Risk
All Variants (130)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2525005084 | Health Risk | Likely pathogenic | Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |
| RS761631813 | Health Risk | Likely pathogenic | Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |
| RS797045950 | Health Risk | Likely pathogenic | Congenital myopathy with fiber type disproportion, Eichsfeld type congenital muscular dystrophy, Congenital myopathy 4A |
| RS1005071009 | Health Risk | Pathogenic | Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |
| RS1192828749 | Health Risk | Pathogenic | Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |
| RS121908182 | Health Risk | Pathogenic | Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |
| RS121908187 | Health Risk | Pathogenic | Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |
| RS1269951927 | Health Risk | Pathogenic | Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |
| RS1289523206 | Health Risk | Pathogenic | Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |
| RS1553120047 | Health Risk | Pathogenic | Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |
| RS1553120055 | Health Risk | Pathogenic | Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |
| RS1553120202 | Health Risk | Pathogenic | Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |
| RS1553120678 | Health Risk | Pathogenic | — |
| RS1553198611 | Health Risk | Pathogenic | Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |
| RS1557814066 | Health Risk | Pathogenic | Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |
| RS1572226578 | Health Risk | Pathogenic | Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |
| RS1572226620 | Health Risk | Pathogenic | Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |
| RS1572226744 | Health Risk | Pathogenic | Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |
| RS2047846279 | Health Risk | Pathogenic | Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |
| RS2047848157 | Health Risk | Pathogenic | Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |
| RS2047850525 | Health Risk | Pathogenic | Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |
| RS2047929645 | Health Risk | Pathogenic | Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |
| RS2047931126 | Health Risk | Pathogenic | Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |
| RS2047932848 | Health Risk | Pathogenic | Muscular dystrophy, Eichsfeld type congenital muscular dystrophy, SELENON-related myopathy |
| RS2047935649 | Health Risk | Pathogenic | — |
| RS2124436380 | Health Risk | Pathogenic | Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |
| RS2124436429 | Health Risk | Pathogenic | Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |
| RS2124447526 | Health Risk | Pathogenic | Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |
| RS2124450830 | Health Risk | Pathogenic | Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |
| RS2124452873 | Health Risk | Pathogenic | Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |
| RS2524953933 | Health Risk | Pathogenic | Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |
| RS2524954033 | Health Risk | Pathogenic | Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |
| RS2524954100 | Health Risk | Pathogenic | Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |
| RS2524983904 | Health Risk | Pathogenic | Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |
| RS2524986424 | Health Risk | Pathogenic | Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |
| RS2524986843 | Health Risk | Pathogenic | Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |
| RS2524994638 | Health Risk | Pathogenic | Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |
| RS2524994791 | Health Risk | Pathogenic | Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |
| RS368104077 | Health Risk | Pathogenic | Eichsfeld type congenital muscular dystrophy, Congenital myopathy with fiber type disproportion, SELENON-related disorder |
| RS377215510 | Health Risk | Pathogenic | Eichsfeld type congenital muscular dystrophy, See cases, Eichsfeld type congenital muscular dystrophy |
| RS398124360 | Health Risk | Pathogenic | — |
| RS587776597 | Health Risk | Pathogenic | Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |
| RS747284477 | Health Risk | Pathogenic | Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |
| RS770106849 | Health Risk | Pathogenic | Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |
| RS774283170 | Health Risk | Pathogenic | Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |
| RS797044620 | Health Risk | Pathogenic | Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |
| RS797044621 | Health Risk | Pathogenic | Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |
| RS886041584 | Health Risk | Pathogenic | Congenital myopathy 4A, autosomal dominant, Congenital myopathy 4A |
| RS886041686 | Health Risk | Pathogenic | Eichsfeld type congenital muscular dystrophy, Congenital myopathy with fiber type disproportion, Eichsfeld type congenital muscular dystrophy |
| RS911937146 | Health Risk | Pathogenic | Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |