Gene
SELENON
selenoprotein N
- HGNC 15999(opens in a new tab)
- Ensembl gene ENSG00000162430(opens in a new tab)
- NCBI Gene 57190(opens in a new tab)
Summary
- Cytogenetic location
- 1p36.11
- Coordinates
- Chromosome 1: 25,800,193–25,818,221 (GRCh38)
- Exons
- 12 exons across 18 kb
- Protein
- 556 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- SELN, RSS
- Previous symbols
- RSMD1, MDRS1, SEPN1
- MANE Select transcript
- ENST00000374315.1NM_206926.2
- Locus type
- gene with protein product
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Congenital Muscular Dystrophies
- Congenital muscular dystrophy
A group of muscular dystrophies with onset at birth or in infancy, including dystroglycanopathies (such as FKRP, FKTN and POMT1/2-related forms).
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
Congenital Myopathies
- SELENON-related congenital myopathy with rigid spineAutosomal recessive
A congenital myopathy caused by SELENON variants, with early stiffness of the spine, scoliosis and weakness of the breathing muscles.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
What knowing changes
Regular checks of breathing function are recommended, because breathing weakness can develop while walking is still preserved.
- Nemaline myopathy
A congenital myopathy defined by rod-shaped structures in muscle fibers, most often caused by NEB or ACTA1 variants.
- 1 GenCC submitter rates it definitive or strong
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How SELENON is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 4.2 kb of the gene's 18 kb; 1,671 of those bases code for the protein.
How a genome test reads SELENON
89
positions in SELENON where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 18 kb of SELENON, introns included, not only the 4.2 kb of exons.
Traits linked to SELENON
The Human Phenotype Ontology lists these as features of the rare conditions SELENON can cause. Each trait's page lists the other genes linked to it.
Abnormality of the musculoskeletal system
- Centrally nucleated skeletal muscle fibers
- Increased endomysial connective tissue
- Increased variability in muscle fiber diameter
- Neck flexion weakness
- Type 1 muscle fiber predominance
- Abnormally shaped skeletal
- Generalized decreased muscle tone
- Low muscle tone
Show 32 more traits
- Muscle tissue disease
- Muscular dystrophy
- Neck muscle weakness
- Progressive muscle weakness
- Reduced spine movement
- Scoliosis
- Type 1 muscle fiber atrophy
- Axial muscle weakness
- Decreased lung function due to weak breathing muscles
- Diffuse skeletal muscle wasting
- Fatigable weakness of bulbar muscles
- Flexed joint that cannot be straightened
- Hamstring contractures
- Intermittent episodes of respiratory insufficiency due to muscle weakness
- Multiple joint contractures
- Muscle degeneration
- Muscle fiber degeneration
- Poor head control
- Prominent swayback
- Tired easily
- Weakness of muscles of respiration
- Abnormal formation of the hip
- Funnel chest
- Generalized muscle weakness
- Gowers sign
- Kyphoscoliosis
- Muscle weakness between ribs
- Poorly developed skeletal musculature
- Abnormality of the rib cage
- Absent muscle fiber merosin
- Minicore myopathy
- Type 1 and type 2 muscle fiber minicore regions
Abnormality of the nervous system
- Absent reflexes
- Decreased reflex response
- Delayed motor skills
- Diminished deep tendon reflex
- High pitched voice
- Motor delay
- Delayed ability to walk
- Difficulty sleeping
Show 4 more traits
Abnormality of head or neck
- Bell's palsy
- Dental crowding
- High palate
- Limited neck flexibility
- Myopathic facies
- Weakness of facial musculature
- Big lower jaw
- Chewing difficulties
Show 3 more traits
Abnormality of the respiratory system
- Reduced vital capacity
- Respiratory function loss
- Abnormality of the respiratory system
- Abnormality on pulmonary function testing
- Nocturnal hypoventilation
- Stiff lung or chest wall causing decreased lung volume
- High blood carbon dioxide level
- Low blood oxygen level
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). SELENON gene: selenoprotein N. Retrieved 17 October 2026, from https://dantelabs.com/genes/selenon
Dante Labs. SELENON gene: selenoprotein N [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/selenon
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