SELENON (selenoprotein N)

2016-10-01  

Identity

HGNC
SELENON
LOCATION
1p36.11
LOCUSID
57190
ALIAS
CFTD,MDRS1,RSMD1,RSS,SELN,SEPN1

Other Information

Locus ID:

NCBI: 57190
MIM: 606210
HGNC: 15999
Ensembl: ENSG00000162430

Variants:

dbSNP: 57190
ClinVar: 57190
TCGA: ENSG00000162430
COSMIC: SELENON

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000162430ENST00000354177H9KV50
ENSG00000162430ENST00000361547Q9NZV5
ENSG00000162430ENST00000374315Q9NZV5
ENSG00000162430ENST00000630065A0A0D9SGI9

Expression (GTEx)

0
50
100
150
200
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
adrenal gland
nasopharynx
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
121926402002Mutations 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.50
187138632008Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle.50
188412512008Diverse splicing patterns of exonized Alu elements in human tissues.49
163658722006SEPN1: associated with congenital fiber-type disproportion and insulin resistance.34
195578702009Oxidative stress in SEPN1-related myopathy: from pathophysiology to treatment.33
164984472006A single homozygous point mutation in a 3'untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy.24
190673612009A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy.22
159613122005Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes.13
212414492011Nuclear Argonaute 2 regulates adipose tissue-derived stem cell survival through direct control of miR10b and selenoprotein N1 expression.13
216704362011SEPN1-related myopathies: clinical course in a large cohort of patients.13

Citation

Dessen P

SELENON (selenoprotein N)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56019/selenon