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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SELENON
selenoprotein N
Chromosome 1 Β· 1p36.11
NCBI Gene: 57190Ensembl: ENSG00000162430.18HGNC: HGNC:15999UniProt: Q9NZV5
51PubMed Papers
21Diseases
0Drugs
113Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
positive regulation of response to oxidative stressprotein bindingendoplasmic reticulum membranecalcium ion homeostasisrigid spine muscular dystrophy 1classic multiminicore myopathycongenital fiber-type disproportion myopathySELENON-related myopathy
✦AI Summary

SELENON encodes selenoprotein N (SelN), a selenocysteine-containing redox enzyme located in the endoplasmic reticulum membrane where it colocalizes with mitochondria-associated membranes 1. The protein functions as a critical regulator of cellular redox homeostasis and calcium handling in skeletal muscle. SelN is essential for muscle regeneration and satellite cell maintenance, playing a key role in early satellite cell activation processes 2. The protein regulates glutathione redox pathways and cellular energy metabolism, with SelN-deficient myoblasts exhibiting altered glutathione homeostasis and abnormal metabolic patterns 1. SelN also appears to influence ER calcium homeostasis through its role in oxidative protein folding processes 3. Mutations in SELENON cause SELENON-related myopathy (SELENON-RM), a congenital myopathy characterized by axial muscle weakness, progressive respiratory insufficiency, and multiminicore pattern on muscle biopsy 1. This condition affects approximately 15% of patients with cardiac abnormalities, primarily secondary right ventricular dysfunction due to pulmonary complications 4. The disease demonstrates the critical importance of SelN in maintaining skeletal muscle function and cellular homeostasis 5.

Sources cited
1
SelN is a selenocysteine-containing redox enzyme in ER membrane, regulates glutathione homeostasis and metabolism
PMID: 40087793
2
SelN is involved in satellite cell activation and muscle regeneration
PMID: 35302338
3
SelN plays role in ER calcium homeostasis and oxidative protein folding
PMID: 39471738
4
SELENON mutations cause myopathy with cardiac involvement in 15% of cases
PMID: 35868898
5
SELENON-related myopathy is a core myopathy with multiminicore pathology
PMID: 34627702
Disease Associationsβ“˜21
rigid spine muscular dystrophy 1Open Targets
0.82Strong
classic multiminicore myopathyOpen Targets
0.71Strong
congenital fiber-type disproportion myopathyOpen Targets
0.65Moderate
SELENON-related myopathyOpen Targets
0.56Moderate
Joubert syndrome and related disordersOpen Targets
0.49Moderate
muscular dystrophyOpen Targets
0.43Moderate
myopathyOpen Targets
0.39Weak
rigid spine syndromeOpen Targets
0.38Weak
desmin-related myopathy with Mallory body-like inclusionsOpen Targets
0.37Weak
cleft lip/palateOpen Targets
0.34Weak
Abnormality of the musculatureOpen Targets
0.27Weak
genetic disorderOpen Targets
0.19Weak
EMG abnormalityOpen Targets
0.12Weak
EMG: myopathic abnormalitiesOpen Targets
0.12Weak
Joint hypermobilityOpen Targets
0.12Weak
PainOpen Targets
0.12Weak
EpiphoraOpen Targets
0.09Suggestive
gliomaOpen Targets
0.08Suggestive
Distal myopathy, Nonaka typeOpen Targets
0.07Suggestive
cancerOpen Targets
0.07Suggestive
Congenital myopathy 3 with rigid spineUniProt
Pathogenic Variants113
NM_206926.2(SELENON):c.841G>A (p.Gly281Ser)Pathogenic
Eichsfeld type congenital muscular dystrophy|Congenital myopathy with fiber type disproportion|not provided|Eichsfeld type congenital muscular dystrophy;Congenital myopathy with fiber type disproportion|SEPN1-related disorder|Eichsfeld type congenital muscular dystrophy;Congenital myopathy 4A, autosomal dominant|SELENON-related myopathy|Malignant tumor of esophagus|Inborn genetic diseases
β˜…β˜…β˜†β˜†2026β†’ Residue 281
NM_206926.2(SELENON):c.1078G>T (p.Glu360Ter)Pathogenic
Eichsfeld type congenital muscular dystrophy
β˜…β˜…β˜†β˜†2026β†’ Residue 360
NM_206926.2(SELENON):c.611dup (p.Asn204fs)Pathogenic
Eichsfeld type congenital muscular dystrophy|not provided|Congenital myopathy with fiber type disproportion;Eichsfeld type congenital muscular dystrophy|SELENON-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 204
NM_206926.2(SELENON):c.9_33del (p.Ala4fs)Pathogenic
not provided|Eichsfeld type congenital muscular dystrophy
β˜…β˜…β˜†β˜†2026β†’ Residue 4
NM_206926.2(SELENON):c.1285+1G>APathogenic
Eichsfeld type congenital muscular dystrophy
β˜…β˜…β˜†β˜†2026
NM_206926.2(SELENON):c.1367G>A (p.Trp456Ter)Pathogenic
Eichsfeld type congenital muscular dystrophy|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 456
NM_206926.2(SELENON):c.1303C>T (p.Arg435Trp)Pathogenic
Eichsfeld type congenital muscular dystrophy|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 435
NM_206926.2(SELENON):c.13_22dup (p.Gln8fs)Pathogenic
not provided|Eichsfeld type congenital muscular dystrophy
β˜…β˜…β˜†β˜†2025β†’ Residue 8
NM_206926.2(SELENON):c.1213C>T (p.Arg405Ter)Pathogenic
not provided|Eichsfeld type congenital muscular dystrophy|See cases
β˜…β˜…β˜†β˜†2025β†’ Residue 405
NM_206926.2(SELENON):c.895_898del (p.Val299fs)Pathogenic
not provided|Eichsfeld type congenital muscular dystrophy|Congenital myopathy with fiber type disproportion
β˜…β˜…β˜†β˜†2025β†’ Residue 299
NM_206926.2(SELENON):c.1295G>A (p.Arg432Gln)Pathogenic
Eichsfeld type congenital muscular dystrophy|not provided|SEPN1-related disorder|Muscular dystrophy|Cleft lip/palate|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 432
NM_206926.2(SELENON):c.770G>A (p.Arg257Gln)Pathogenic
not provided|Eichsfeld type congenital muscular dystrophy;Congenital myopathy with fiber type disproportion|Eichsfeld type congenital muscular dystrophy|See cases
β˜…β˜…β˜†β˜†2025β†’ Residue 257
NM_206926.2(SELENON):c.1A>G (p.Met1Val)Pathogenic
Eichsfeld type congenital muscular dystrophy|not provided|Congenital myopathy with fiber type disproportion|Eichsfeld type congenital muscular dystrophy;Congenital myopathy with fiber type disproportion
β˜…β˜…β˜†β˜†2025β†’ Residue 1
NM_206926.2(SELENON):c.379C>T (p.Arg127Ter)Pathogenic
Eichsfeld type congenital muscular dystrophy|Congenital myopathy with fiber type disproportion
β˜…β˜…β˜†β˜†2025β†’ Residue 127
NM_206926.2(SELENON):c.776A>G (p.His259Arg)Pathogenic
SEPN1-related disorder|Eichsfeld type congenital muscular dystrophy
β˜…β˜…β˜†β˜†2025β†’ Residue 259
NM_206926.2(SELENON):c.463C>T (p.Arg155Ter)Pathogenic
Eichsfeld type congenital muscular dystrophy|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 155
NM_206926.2(SELENON):c.-11_81del (p.Met1fs)Pathogenic
not provided|Congenital myopathy with fiber type disproportion|Eichsfeld type congenital muscular dystrophy
β˜…β˜…β˜†β˜†2025β†’ Residue 1
NM_206926.2(SELENON):c.581_587dup (p.Met196fs)Pathogenic
not provided|Eichsfeld type congenital muscular dystrophy
β˜…β˜…β˜†β˜†2025β†’ Residue 196
NM_206926.2(SELENON):c.1294C>T (p.Arg432Trp)Pathogenic
Eichsfeld type congenital muscular dystrophy|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 432
NM_206926.2(SELENON):c.770+2T>CPathogenic
not provided|Eichsfeld type congenital muscular dystrophy
β˜…β˜…β˜†β˜†2025
View on ClinVar β†—
Related Genes
GPX7Protein interaction92%GPX2Protein interaction91%GPX3Protein interaction90%TXNRD1Protein interaction87%TXNRD2Protein interaction87%RYR1Protein interaction86%
Tissue Expression6 tissues
Lung
100%
Heart
96%
Ovary
96%
Brain
85%
Bone Marrow
44%
Liver
34%
Gene Interaction Network
Click a node to explore
SELENONGPX7GPX2GPX3TXNRD1TXNRD2RYR1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9NZV5
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.00LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.78 [0.61–1.00]
RankingsWhere SELENON stands among ~20K protein-coding genes
  • #8,728of 20,598
    Most Researched51
  • #694of 5,498
    Most Pathogenic Variants113 Β· top quartile
  • #9,748of 17,882
    Most Constrained (LOEUF)1.00
Genes detectedSELENON
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis Β· 2022
1.00
2
ER stress as a sentinel mechanism for ER Ca
PMID: 39471738
Cell Calcium Β· 2024
0.90
3
Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies.
PMID: 35302338
Eur J Transl Myol Β· 2022
0.80
4
Cardiac involvement in two rare neuromuscular diseases: LAMA2-related muscular dystrophy and SELENON-related myopathy.
PMID: 35868898
Neuromuscul Disord Β· 2022
0.70
5
Zebrafish and cellular models of SELENON-Congenital myopathy exhibit novel embryonic and metabolic phenotypes.
PMID: 40087793
Skelet Muscle Β· 2025
0.60