SELENON
Selenoprotein N, a key player in redox homeostasis and muscle function
Gene Information Card
| Symbol | SELENON |
|---|---|
| Full Name | Selenoprotein N |
| Gene Type | protein coding |
| Chromosomal Location | 1p36.11 |
| NCBI Gene ID | 57190 ncbi.nlm.nih.gov/gene/57190 |
| Ensembl ID | ENSG00000162437 |
| UniProt ID | Q9NZV5 |
| OMIM ID | 606210 |
| HGNC ID | 15999 |
| Aliases | SEPN1, MDRS1, RSMD1 |
Description
SELENON (selenoprotein N) is a protein-coding gene located on chromosome 1p36.11. It encodes a selenocysteine-containing protein involved in redox regulation, calcium homeostasis, and muscle cell differentiation. Mutations in SELENON are associated with early-onset muscle disorders including rigid spine muscular dystrophy 1 (RSMD1) and multiminicore disease (MmD). The protein is localized to the endoplasmic reticulum and plays a protective role against oxidative stress.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Rigid spine muscular dystrophy 1 (RSMD1) | Loss of SELENON function disrupts redox balance and calcium handling in muscle, leading to progressive spinal rigidity and respiratory insufficiency. | OMIM #602771; ClinVar pathogenic variants |
| Multiminicore disease (MmD) | SELENON deficiency impairs ryanodine receptor function and mitochondrial homeostasis, causing minicores on muscle biopsy. | OMIM #255320; ClinVar pathogenic variants |
| Congenital muscular dystrophy with spinal rigidity | Similar mechanism to RSMD1; SELENON mutations result in early-onset axial weakness and scoliosis. | OMIM #602771; literature review |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | High |
| Heart | 6.8 | Medium |
| Liver | 2.1 | Low |
| Brain | 1.5 | Low |
| Lung | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| C2C12 (mouse myoblasts) | 8.3 | Differentiation-dependent expression |
| HEK293 | 2.0 | Low endogenous expression |
| HepG2 | 1.1 | Minimal expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.943G>A (p.Gly315Ser) | Missense | Rare | Loss of function; reduced selenocysteine incorporation |
| c.1397G>A (p.Trp466*) | Nonsense | Rare | Premature termination; complete loss of protein |
| c.1A>G (p.Met1?) | Start loss | Rare | No translation initiation; null allele |
Mutation functional classification
Loss of Function (LOF)
Most SELENON mutations are recessive loss-of-function, leading to absence or severe reduction of functional selenoprotein N.
Gain of Function (GOF)
No gain-of-function mutations reported for SELENON.
Dominant Negative (DN)
No dominant-negative mutations reported; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding (GO:0005509) | • endoplasmic reticulum (GO:0005783) |
| • response to oxidative stress (GO:0006979) | • identical protein binding (GO:0042802) |
| • oxidation-reduction process (GO:0055114) |
Pathways
• Selenium micronutrient network
• Endoplasmic reticulum stress response
• Calcium signaling via ryanodine receptor
Protein Summary
Selenoprotein N is a 70 kDa transmembrane protein localized to the endoplasmic reticulum. It contains a selenocysteine residue at position 428 (UniProt Q9NZV5) and is involved in redox homeostasis, calcium release from the sarcoplasmic reticulum, and protection against oxidative stress. It is highly expressed in skeletal muscle and heart, and its deficiency leads to early-onset muscle diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SELENON Knockout HEK293 Cell Line | EDJ-KQ11315 | Human | 57190 | Details Get a Quote |
| SELENON Knockout A-549 Cell Line | EDJ-KQ40711 | Human | 57190 | Details Get a Quote |
| SELENON Knockout HCT 116 Cell Line | EDJ-KQ40713 | Human | 57190 | Details Get a Quote |
| SELENON Knockout HeLa Cell Line | EDJ-KQ40714 | Human | 57190 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
