Aliases for SELENON Gene
Aliases for SELENON Gene
External Ids for SELENON Gene
- HGNC: 15999
- Entrez Gene: 57190
- Ensembl: ENSG00000162430
- OMIM: 606210
- UniProtKB: Q9NZV5
Previous HGNC Symbols for SELENON Gene
- RSMD1
- MDRS1
- SEPN1
Summaries for SELENON Gene
-
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]
GeneCards Summary for SELENON Gene
SELENON (Selenoprotein N) is a Protein Coding gene. Diseases associated with SELENON include Rigid Spine Muscular Dystrophy 1 and Myopathy, Congenital, With Fiber-Type Disproportion. Among its related pathways are Selenium Metabolism and Selenoproteins and Folate Metabolism. An important paralog of this gene is ENSG00000255054.
UniProtKB/Swiss-Prot for SELENON Gene
-
Isoform 2: Plays an important role in cell protection against oxidative stress and in the regulation of redox-related calcium homeostasis. Regulates the calcium level of the ER by protecting the calcium pump ATP2A2 against the oxidoreductase ERO1A-mediated oxidative damage. Within the ER, ERO1A activity increases the concentration of H(2)O(2), which attacks the luminal thiols in ATP2A2 and thus leads to cysteinyl sulfenic acid formation (-SOH) and SEPN1 reduces the SOH back to free thiol (-SH), thus restoring ATP2A2 activity (PubMed:25452428). Acts as a modulator of ryanodine receptor (RyR) activity: protects RyR from oxidation due to increased oxidative stress, or directly controls the RyR redox state, regulating the RyR-mediated calcium mobilization required for normal muscle development and differentiation (PubMed:19557870, PubMed:18713863).
-
Essential for muscle regeneration and satellite cell maintenance in skeletal muscle (PubMed:21131290).
Additional gene information for SELENON Gene
- Monarch Initiative
- Search for SELENON at DataMed
- Search for SELENON at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SELENON Gene
Genomics for SELENON Gene
GeneHancer (GH) Regulatory Elements for SELENON Gene
Promoters and enhancers for SELENON Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around SELENON on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for SELENON Gene
Genomic Locations for SELENON Gene
- chr1:25,800,176-25,818,224
- (GRCh38/hg38)
- Size:
- 18,049 bases
- Orientation:
- Plus strand
- chr1:26,126,667-26,144,713
- (GRCh37/hg19)
Genomic View for SELENON Gene
Genes around SELENON on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1p36.11 by Ensembl
- 1p36.11 by Entrez Gene
- 1p36.11 by HGNC
SELENON Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for SELENON Gene
Proteins for SELENON Gene
-
Protein details for SELENON Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9NZV5-SELN_HUMAN
- Recommended name:
- Selenoprotein N
- Protein Accession:
- Q9NZV5
- A6NJG8
- A8MQ64
- Q6PI70
- Q969F6
- Q9NUI6
Protein attributes for SELENON Gene
- Size:
- 590 amino acids
- Molecular mass:
- 65813 Da
- Quaternary structure:
-
- Isoform 2: Interacts with RYR1, RYR2 and RYR3 (PubMed:18713863).
- SequenceCaution:
-
- Sequence=AAH15638.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH42154.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Post-translational modifications for SELENON Gene
- Isoform 2: N-glycosylated.
Other Protein References for SELENON Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for SELENON
- Novus Biologicals Antibodies for SELENON
-
Abcam antibodies for SELENON
-
Cloud-Clone Corp. Antibodies for SELENON
- Invitrogen Antibodies for SELENON
- Search GeneTex for Antibodies for SELENON
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for SELENON
- Origene Custom Protein Services for SELENON
- Novus Biologicals proteins for SELENON
-
Cloud-Clone Corp. Proteins for SELENON
- Search GeneTex for Proteins for SELENON
Assay Products
No data available for DME Specific Peptides for SELENON Gene
Domains & Families for SELENON Gene
Gene Families for SELENON Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
- Predicted secreted proteins
Protein Domains for SELENON Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for SELENON Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9NZV5UniProtKB/Swiss-Prot:
SELN_HUMAN :- Isoform 2: The N-terminus (first 61 amino acids) contains an endoplasmic reticulum addressing and retention targeting signal.
- Domain:
-
- Isoform 2: The N-terminus (first 61 amino acids) contains an endoplasmic reticulum addressing and retention targeting signal.
Function for SELENON Gene
Molecular function for SELENON Gene
- UniProtKB/Swiss-Prot Function:
- Isoform 2: Plays an important role in cell protection against oxidative stress and in the regulation of redox-related calcium homeostasis. Regulates the calcium level of the ER by protecting the calcium pump ATP2A2 against the oxidoreductase ERO1A-mediated oxidative damage. Within the ER, ERO1A activity increases the concentration of H(2)O(2), which attacks the luminal thiols in ATP2A2 and thus leads to cysteinyl sulfenic acid formation (-SOH) and SEPN1 reduces the SOH back to free thiol (-SH), thus restoring ATP2A2 activity (PubMed:25452428). Acts as a modulator of ryanodine receptor (RyR) activity: protects RyR from oxidation due to increased oxidative stress, or directly controls the RyR redox state, regulating the RyR-mediated calcium mobilization required for normal muscle development and differentiation (PubMed:19557870, PubMed:18713863).
- UniProtKB/Swiss-Prot Function:
- Essential for muscle regeneration and satellite cell maintenance in skeletal muscle (PubMed:21131290).
Phenotypes From GWAS Catalog for SELENON Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005509 | calcium ion binding | IEA | -- |
| GO:0005515 | protein binding | IPI | 17474147 |
| GO:0016491 | oxidoreductase activity | IEA | -- |
Phenotypes for SELENON Gene
- MGI mutant phenotypes for SELENON:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for SELENON:
-
- Increased vaccinia virus (VACV) infection
- Dynamic nuclei (hole, folded or small irregular)
- Decreased NF-kappaB reporter expression
- Decreased viability with paclitaxel
- Increased cell number in S
- Synthetic lethal with vaccinia virus (VACV) infection
- Decreased viability of wild-type and TP53 knockout cells
Animal Models for SELENON Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for SELENON
-
-
ViGene Biosciences lentiviral particle packaged cDNA for SELENON gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SELENON gene
- Search ViGene Biosciences for SELENON
CRISPR Products
-
OriGene CRISPR knockouts for SELENON
- genomics-online: gRNA clones - Search results for 59 available SEPN1 gene related products
- Overview of 59 available SEPN1 gene related products
- Applied Biological Materials CRISPR for SELENON
-
Vectors and viruses for KO, Activation, Repression, and more
- GenScript: Design CRISPR guide RNA sequences for SELENON
miRNA for SELENON Gene
- miRTarBase miRNAs that target SELENON
-
- hsa-mir-193b-3p (MIRT016424)
- hsa-mir-423-5p (MIRT038142)
- hsa-mir-423-3p (MIRT042527)
- hsa-mir-331-3p (MIRT043560)
- hsa-mir-149-5p (MIRT045474)
- hsa-mir-4293 (MIRT066278)
- hsa-mir-3180-5p (MIRT441902)
- hsa-mir-525-5p (MIRT441903)
- hsa-mir-520a-5p (MIRT441904)
- hsa-mir-6845-5p (MIRT441905)
- hsa-mir-6762-5p (MIRT441906)
- hsa-mir-2115-5p (MIRT441907)
- hsa-mir-646 (MIRT441908)
- hsa-mir-4506 (MIRT441909)
- hsa-mir-384 (MIRT653948)
- hsa-mir-6772-3p (MIRT653949)
- hsa-mir-6749-3p (MIRT653950)
- hsa-mir-7975 (MIRT653951)
- hsa-mir-5571-3p (MIRT653952)
- hsa-mir-6802-3p (MIRT653953)
- hsa-mir-4448 (MIRT653954)
- hsa-mir-6837-3p (MIRT653955)
- hsa-mir-4268 (MIRT653956)
- hsa-mir-6754-3p (MIRT653957)
- hsa-mir-412-3p (MIRT653958)
- hsa-mir-4469 (MIRT653959)
- hsa-mir-136-5p (MIRT653960)
- hsa-mir-4667-3p (MIRT653961)
- hsa-mir-1470 (MIRT653962)
- hsa-mir-596 (MIRT653963)
- hsa-mir-193a-3p (MIRT732270)
- hsa-mir-1184 (MIRT735901)
- hsa-mir-1205 (MIRT735991)
- hsa-mir-1207-5p (MIRT736057)
- hsa-mir-1228-5p (MIRT736187)
- hsa-mir-1233-5p (MIRT736264)
- hsa-mir-1296-3p (MIRT737220)
- hsa-mir-17-3p (MIRT738008)
- hsa-mir-185-5p (MIRT738263)
- hsa-mir-3135a (MIRT740120)
- hsa-mir-3158-5p (MIRT740483)
- hsa-mir-342-5p (MIRT741407)
- hsa-mir-3714 (MIRT742571)
- hsa-mir-4270 (MIRT743596)
- hsa-mir-4306 (MIRT743920)
- hsa-mir-4433b-3p (MIRT744385)
- hsa-mir-4441 (MIRT744563)
- hsa-mir-4481 (MIRT745122)
- hsa-mir-4514 (MIRT745724)
- hsa-mir-4644 (MIRT746392)
- hsa-mir-4651 (MIRT746577)
- hsa-mir-4659a-5p (MIRT746678)
- hsa-mir-4659b-5p (MIRT746683)
- hsa-mir-4664-5p (MIRT746742)
- hsa-mir-4692 (MIRT747131)
- hsa-mir-4710 (MIRT747425)
- hsa-mir-4745-5p (MIRT748193)
- hsa-mir-4763-3p (MIRT748565)
- hsa-mir-608 (MIRT752014)
- hsa-mir-6731-5p (MIRT754034)
- hsa-mir-6737-5p (MIRT754250)
- hsa-mir-6742-5p (MIRT754393)
- hsa-mir-6747-5p (MIRT754534)
- hsa-mir-6754-5p (MIRT754738)
- hsa-mir-6756-5p (MIRT754822)
- hsa-mir-6758-5p (MIRT754887)
- hsa-mir-6760-5p (MIRT754943)
- hsa-mir-6766-5p (MIRT755130)
- hsa-mir-6778-5p (MIRT755460)
- hsa-mir-6804-5p (MIRT756447)
- hsa-mir-6808-5p (MIRT756599)
- hsa-mir-6812-5p (MIRT756719)
- hsa-mir-6819-5p (MIRT756867)
- hsa-mir-6856-5p (MIRT757733)
- hsa-mir-6893-5p (MIRT758744)
- hsa-mir-7854-3p (MIRT759936)
- hsa-mir-8085 (MIRT760238)
- hsa-mir-940 (MIRT760840)
- hsa-mir-1301-5p (MIRT762400)
- hsa-mir-3616-3p (MIRT766087)
- hsa-mir-4269 (MIRT768240)
- hsa-mir-4435 (MIRT769105)
- hsa-mir-4459 (MIRT769341)
- hsa-mir-4742-5p (MIRT771892)
- hsa-mir-4777-5p (MIRT772236)
- hsa-mir-4779 (MIRT772249)
- hsa-mir-517-5p (MIRT773472)
- hsa-mir-5582-5p (MIRT774722)
- hsa-mir-6502-5p (MIRT776564)
- hsa-mir-6715b-5p (MIRT777694)
- hsa-mir-6784-5p (MIRT779089)
- hsa-mir-6822-3p (MIRT779864)
- hsa-mir-873-5p (MIRT782497)
miRNA Products
- Search ViGene Biosciences for SELENON
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for SELENON
- Browse OriGene Inhibitory RNA Products For SELENON
- genomics-online: shRNA clones - Search results for 59 available SEPN1 gene related products
- Overview of 59 available SEPN1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for SELENON gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for SELENON
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SELENON
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for SELENON
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for SELENON
-
ViGene Biosciences adenoviral particle packaged cDNA for SELENON gene
-
ViGene Biosciences lentiviral particle packaged cDNA for SELENON gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SELENON gene
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SELENON Gene
Localization for SELENON Gene
Subcellular locations from UniProtKB/Swiss-Prot for SELENON Gene
- Isoform 2: Endoplasmic reticulum membrane.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 5 |
| plasma membrane | 2 |
| cytosol | 2 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| nucleus | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Cytosol (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005783 | endoplasmic reticulum | IEA | -- |
| GO:0005789 | endoplasmic reticulum membrane | IDA | 12700173 |
| GO:0016020 | membrane | IEA | -- |
Pathways & Interactions for SELENON Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Selenium Metabolism and Selenoproteins | ||
| 2 | Folate Metabolism | ||
Pathways by source for SELENON Gene
2 BioSystems pathways for SELENON Gene
Interacting Proteins for SELENON Gene
Selected Interacting proteins:
ENSP00000355141
Q9NZV5-SELN_HUMAN
for SELENON Gene via
STRING
IID
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0048741 | skeletal muscle fiber development | IBA | -- |
| GO:0055074 | calcium ion homeostasis | IMP | 19557870 |
| GO:0055114 | oxidation-reduction process | IEA | -- |
| GO:0060314 | regulation of ryanodine-sensitive calcium-release channel activity | IMP | 18713863 |
| GO:1902884 | positive regulation of response to oxidative stress | IMP | 19557870 |
No data available for SIGNOR curated interactions for SELENON Gene
Transcripts for SELENON Gene
mRNA/cDNA for SELENON Gene
- (2) REFSEQ mRNAs :
- (645) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for SELENON
- genomics-online: gRNA clones - Search results for 59 available SEPN1 gene related products
- Overview of 59 available SEPN1 gene related products
- Applied Biological Materials CRISPR for SELENON
-
Vectors and viruses for KO, Activation, Repression, and more
- GenScript: Design CRISPR guide RNA sequences for SELENON
miRNA Products
- Search ViGene Biosciences for SELENON
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for SELENON
- Browse OriGene Inhibitory RNA Products For SELENON
- genomics-online: shRNA clones - Search results for 59 available SEPN1 gene related products
- Overview of 59 available SEPN1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for SELENON gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for SELENON
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SELENON
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for SELENON
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for SELENON Gene
NURSA nuclear receptor signaling pathways regulating expression of SELENON Gene:
SELENONmRNA Expression by UniProt/SwissProt for SELENON Gene:
Q9NZV5-SELN_HUMAN
Tissue specificity:
Isoform 1 and isoform 2 are expressed in skeletal muscle, brain, lung and placenta. Isoform 2 is also expressed in heart, diaphragm and stomach.
Evidence on tissue expression from TISSUES for SELENON Gene
- Lung(4.4)
- Liver(4.2)
- Nervous system(3.3)
- Skin(3.2)
- Muscle(3)
- Thyroid gland(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for SELENON Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
Organs:
Head and neck:
- brain
- cheek
- chin
- cranial nerve
- ear
- eye
- eyelid
- face
- forehead
- head
- jaw
- larynx
- mandible
- maxilla
- mouth
- neck
- nose
- pharynx
- skull
- tongue
- vocal cord
Thorax:
- chest wall
- diaphragm
- esophagus
- heart
- heart valve
- lung
- rib
- rib cage
- sternum
Abdomen:
- stomach
Pelvis:
- pelvis
- placenta
- uterus
Limb:
- ankle
- digit
- elbow
- finger
- foot
- hand
- hip
- knee
- lower limb
- shoulder
- toe
- upper limb
- wrist
General:
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- spinal cord
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for SELENON
- genomics-online: primer clones - Search results for 59 available SEPN1 gene related products
- Overview of 59 available SEPN1 gene related products
No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for SELENON Gene
Orthologs for SELENON Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | SEPN1 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | SEPN1 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | SEPN1 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Sepn1 33 34 |
|
||
| Selenon 16 |
|
||||
| rat (Rattus norvegicus) |
Mammalia | Sepn1 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| platypus (Ornithorhynchus anatinus) |
Mammalia | SEPN1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | SEPN1 33 34 |
|
||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | sepn1 33 |
|
||
| LOC394859 33 |
|
||||
| zebrafish (Danio rerio) |
Actinopterygii | sepn1 33 34 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.9228 34 |
|
OneToMany | |
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.13336 33 |
|
- Species where no ortholog for SELENON was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- lizard (Anolis carolinensis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for SELENON Gene
Paralogs for SELENON Gene
Variants for SELENON Gene
| SNP ID | Clin | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1007658425 | uncertain-significance, SEPN1-Related Disorders | 25,818,193(+) | T/C | 3_prime_UTR_variant | |
| rs1019702401 | uncertain-significance, Eichsfeld type congenital muscular dystrophy | 25,801,116(+) | A/G/T | coding_sequence_variant, missense_variant | |
| rs1044183 | likely-benign, SEPN1-Related Disorders | 25,818,054(+) | A/T | 3_prime_UTR_variant | |
| rs1057515432 | uncertain-significance, SEPN1-Related Disorders | 25,817,340(+) | G/A/C | 3_prime_UTR_variant | |
| rs1057515433 | uncertain-significance, SEPN1-Related Disorders | 25,817,449(+) | A/C | 3_prime_UTR_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv14e201 | CNV | deletion | 23290073 |
| esv2353706 | CNV | deletion | 18987734 |
| esv2742604 | CNV | deletion | 23290073 |
| esv2745652 | CNV | deletion | 23290073 |
| nsv460884 | CNV | loss | 19166990 |
| nsv545883 | CNV | loss | 21841781 |
| nsv7490 | CNV | deletion | 18451855 |
| nsv834491 | CNV | loss | 17160897 |
| nsv950337 | CNV | deletion | 24416366 |
Residual Variation Intolerance Score:
71% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.65;
56.89% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SELENON Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SELENON Gene
Disorders for SELENON Gene
(20) MalaCards diseases for SELENON Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| rigid spine muscular dystrophy 1 |
|
|
| myopathy, congenital, with fiber-type disproportion |
|
|
| congenital fiber-type disproportion |
|
|
| multiminicore disease |
|
|
| myopathy, congenital |
|
Search SELENON in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
SELN_HUMAN- Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310]: A genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions. {ECO:0000269 PubMed:16365872}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771]: A neuromuscular disorder characterized by poor axial muscle strength, scoliosis and neck weakness, and a variable degree of spinal rigidity. Early ventilatory insufficiency can lead to death by respiratory failure. {ECO:0000269 PubMed:11528383, ECO:0000269 PubMed:12192640, ECO:0000269 PubMed:15122708, ECO:0000269 PubMed:15668457, ECO:0000269 PubMed:18713863, ECO:0000269 PubMed:19067361}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for SELENON
No data available for Genatlas for SELENON Gene
Publications for SELENON Gene
- Oxidative stress in SEPN1-related myopathy: from pathophysiology to treatment. (PMID: 19557870) Arbogast S … Ferreiro A (Annals of neurology 2009) 3 4 22 58
- A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy. (PMID: 19067361) Maiti B … Howard MT (Human mutation 2009) 3 4 22 58
- Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene. (PMID: 15122708) Ferreiro A … Bönnemann CG (Annals of neurology 2004) 3 4 22 58
- Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression pattern. (PMID: 12700173) Petit N … Guicheney P (Human molecular genetics 2003) 3 4 22 58
- Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies. (PMID: 12192640) Ferreiro A … Guicheney P (American journal of human genetics 2002) 3 4 22 58
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Sources for SELENON Gene
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