Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	57190
Gene name	Selenoprotein N
Gene symbol	SELENON
Synonyms (NCBI Gene)	CFTDCMYO3CMYP3MDRS1RSMD1RSSSELNSEPN1
Chromosome	1
Chromosome location	1p36.11
Summary	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

Show/Hide all (54)

SNP ID	Visualize variation	Clinical significance	Consequence
rs41284305	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs121908182	G>A	Pathogenic	Missense variant, coding sequence variant
rs121908184	A>G	Pathogenic	Initiator codon variant, missense variant
rs121908185	G>A	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs121908186	G>C	Pathogenic	Missense variant, coding sequence variant
rs121908187	T>G	Pathogenic	Coding sequence variant
rs121908188	G>A,C	Pathogenic-likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs139020143	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Synonymous variant, coding sequence variant
rs141295085	->GAG	Conflicting-interpretations-of-pathogenicity	Inframe insertion, coding sequence variant
rs149623434	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs183272965	C>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs199564797	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs199742668	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs200128474	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs201066183	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs368074297	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs368104077	->A	Pathogenic	Coding sequence variant, frameshift variant
rs368377980	C>A,G,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs377215510	C>G,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs398124360	G>T	Pathogenic	Splice donor variant
rs587776597	G>A	Pathogenic	Coding sequence variant
rs745886248	G>A,C,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs747284477	G>T	Pathogenic	Stop gained, coding sequence variant
rs750138587	G>A	Likely-pathogenic	Splice acceptor variant
rs756927098	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs760063405	C>T	Pathogenic	Coding sequence variant, stop gained
rs773670891	GAGT>-	Likely-pathogenic	Splice donor variant, intron variant, coding sequence variant
rs776738184	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs779162837	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs794727808	T>C	Pathogenic	Splice donor variant
rs794727976	G>T	Pathogenic	Coding sequence variant, stop gained
rs797044620	->GCCCCGCCGCGCAGCCTCCCGCGCCACCG	Pathogenic	Coding sequence variant, frameshift variant
rs797044621	->CGGCCGGGCC	Pathogenic	Coding sequence variant, frameshift variant
rs797045950	->CCT	Likely-pathogenic	Inframe insertion, coding sequence variant
rs866566089	C>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant
rs886041584	C>T	Pathogenic	Coding sequence variant, stop gained
rs886041619	GGCCCGGCCGGGCCAACGCGGGCCG>-	Pathogenic	Frameshift variant, initiator codon variant
rs886041686	GTGC>-	Pathogenic	Frameshift variant, coding sequence variant
rs960468382	G>A	Pathogenic	Coding sequence variant, stop gained
rs1057517819	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1174570887	T>A,C,G	Pathogenic	Missense variant, initiator codon variant
rs1176143542	A>G	Likely-pathogenic	Splice acceptor variant
rs1269951927	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553120047	G>A	Pathogenic	Coding sequence variant, stop gained
rs1553120055	->TGAGCAT	Pathogenic	Frameshift variant, coding sequence variant
rs1553120110	C>G	Likely-pathogenic	Coding sequence variant, stop gained
rs1553120202	G>A	Pathogenic	Coding sequence variant, stop gained
rs1553120678	->A	Likely-pathogenic	Coding sequence variant, stop gained
rs1553198611	->GG	Pathogenic	Frameshift variant, coding sequence variant
rs1557813850	CAGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCCCCGCCGCGCAGCCTCCCGCGCCACCGCGCCGCCGC>-	Pathogenic	Frameshift variant, initiator codon variant, 5 prime UTR variant
rs1557814050	C>T	Pathogenic	Stop gained, coding sequence variant
rs1572226578	CGCCCCCGGCCCCGCCCCGCTCTTTCGCTTCCCGGGCCGCCGGCAGCCGCCGCCAGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCC>-	Pathogenic	5 prime UTR variant, initiator codon variant, upstream transcript variant
rs1572226620	CCCCGCCCCGCTCTTTCGCTTCCCGGGCCGCCGGCAGCCGCCGCCAGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCCCCGCCGCGCAGCCTCCCGCGCCACCGCGCCGCCGCGCCCGTTCCCTGGCGCTGCTCGGAGCCCTGCTGGCCGCCGCCGCTGCCGCCGCCGTCCGGGTCTGCGCCCGCCACGCCGAGGCCCAGGCGGCCGCGCGGCAG>-	Pathogenic	5 prime UTR variant, initiator codon variant, upstream transcript variant
rs1572226744	->GGGCC	Pathogenic	Initiator codon variant, frameshift variant

Show/Hide all (44)

miRTarBase ID	miRNA	Experiments	Reference
MIRT066278	hsa-miR-4293	HITS-CLIP	23824327
MIRT653963	hsa-miR-596	HITS-CLIP	23824327
MIRT653962	hsa-miR-1470	HITS-CLIP	23824327
MIRT653961	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT653960	hsa-miR-136-5p	HITS-CLIP	23824327
MIRT653959	hsa-miR-4469	HITS-CLIP	23824327
MIRT653958	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT653957	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT653955	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT653956	hsa-miR-4268	HITS-CLIP	23824327
MIRT653954	hsa-miR-4448	HITS-CLIP	23824327
MIRT653953	hsa-miR-6802-3p	HITS-CLIP	23824327
MIRT653952	hsa-miR-5571-3p	HITS-CLIP	23824327
MIRT653951	hsa-miR-7975	HITS-CLIP	23824327
MIRT653950	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT653949	hsa-miR-6772-3p	HITS-CLIP	23824327
MIRT653948	hsa-miR-384	HITS-CLIP	23824327
MIRT066278	hsa-miR-4293	HITS-CLIP	23824327
MIRT653963	hsa-miR-596	HITS-CLIP	23824327
MIRT653962	hsa-miR-1470	HITS-CLIP	23824327
MIRT653961	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT653960	hsa-miR-136-5p	HITS-CLIP	23824327
MIRT653959	hsa-miR-4469	HITS-CLIP	23824327
MIRT653958	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT653957	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT653955	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT653956	hsa-miR-4268	HITS-CLIP	23824327
MIRT653954	hsa-miR-4448	HITS-CLIP	23824327
MIRT653953	hsa-miR-6802-3p	HITS-CLIP	23824327
MIRT653952	hsa-miR-5571-3p	HITS-CLIP	23824327
MIRT653951	hsa-miR-7975	HITS-CLIP	23824327
MIRT653950	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT653949	hsa-miR-6772-3p	HITS-CLIP	23824327
MIRT653948	hsa-miR-384	HITS-CLIP	23824327
MIRT441909	hsa-miR-4506	PAR-CLIP	22100165
MIRT441908	hsa-miR-646	PAR-CLIP	22100165
MIRT441907	hsa-miR-2115-5p	PAR-CLIP	22100165
MIRT441906	hsa-miR-6762-5p	PAR-CLIP	22100165
MIRT441905	hsa-miR-6845-5p	PAR-CLIP	22100165
MIRT441904	hsa-miR-520a-5p	PAR-CLIP	22100165
MIRT441903	hsa-miR-525-5p	PAR-CLIP	22100165
MIRT441902	hsa-miR-3180-5p	PAR-CLIP	22100165
MIRT732270	hsa-miR-193a-3p	Luciferase reporter assayMicroarrayqRT-PCRWestern blot	27307030
MIRT732270	hsa-miR-193a-3p	Luciferase reporter assayMicroarrayqRT-PCRWestern blot	27307030

Show/Hide all (49)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002086	Process	Diaphragm contraction	IEA
GO:0003016	Process	Respiratory system process	IEA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	17474147, 18713863, 33961781
GO:0005739	Component	Mitochondrion	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	12700173
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0006091	Process	Generation of precursor metabolites and energy	IEA
GO:0006112	Process	Energy reserve metabolic process	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0006851	Process	Mitochondrial calcium ion transmembrane transport	IEA
GO:0007005	Process	Mitochondrion organization	IEA
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IEA
GO:0007519	Process	Skeletal muscle tissue development	IEA
GO:0010467	Process	Gene expression	IEA
GO:0014816	Process	Skeletal muscle satellite cell differentiation	IEA
GO:0014834	Process	Skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration	IEA
GO:0014858	Process	Positive regulation of skeletal muscle cell proliferation	IEA
GO:0014873	Process	Response to muscle activity involved in regulation of muscle adaptation	IEA
GO:0015882	Process	L-ascorbic acid transmembrane transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0019852	Process	L-ascorbic acid metabolic process	IEA
GO:0022614	Process	Membrane to membrane docking	IEA
GO:0030199	Process	Collagen fibril organization	IEA
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0033555	Process	Multicellular organismal response to stress	IEA
GO:0034599	Process	Cellular response to oxidative stress	IEA
GO:0034976	Process	Response to endoplasmic reticulum stress	IEA
GO:0043403	Process	Skeletal muscle tissue regeneration	IEA
GO:0044091	Process	Membrane biogenesis	IEA
GO:0044233	Component	Mitochondria-associated endoplasmic reticulum membrane contact site	IEA
GO:0045454	Process	Cell redox homeostasis	IEA
GO:0046034	Process	ATP metabolic process	IEA
GO:0048286	Process	Lung alveolus development	IEA
GO:0048741	Process	Skeletal muscle fiber development	IBA
GO:0048741	Process	Skeletal muscle fiber development	IEA
GO:0055074	Process	Calcium ion homeostasis	IBA
GO:0055074	Process	Calcium ion homeostasis	IMP	19557870
GO:0060314	Process	Regulation of ryanodine-sensitive calcium-release channel activity	IMP	18713863
GO:0061024	Process	Membrane organization	IEA
GO:0061061	Process	Muscle structure development	IEA
GO:0070509	Process	Calcium ion import	IEA
GO:0071313	Process	Cellular response to caffeine	IEA
GO:1902884	Process	Positive regulation of response to oxidative stress	IMP	19557870
GO:1990456	Process	Mitochondrion-endoplasmic reticulum membrane tethering	IEA

MIM	HGNC	e!Ensembl
606210	15999	ENSG00000162430

Q9NZV5

Protein name

Selenoprotein N (SelN)

Protein 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 E

Family and domains

Tissue specificity

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. {ECO:0000269|PubMed:11528383, ECO:0000269|PubMed:12700173}.

Sequence

MGRARPGQRGPPSPGPAAQPPAPPRRRARSLALLGALLAAAAAAAVRVCARHAEAQAAAR
QELALKTLGTDGLFLFSSLDTDGDMYISPEEFKPIAEKLTGSCSVTQTGVQWCSHSSLQP
QLPWLNUSSCLSLLRSTPAASCEEEELPPDPSEETLTIEARFQPLLPETMTKSKDGFLGV
SRLALSGLRNWTAAASPSAVFATRHFQPFLPPPGQELGEPWWIIPSELSMFTGYLSNNRF
YPPPPKGKEVIIHRLLSMFHPRPFVKTRFAPQGAVACLTAISDFYYTVMFRIHAEFQLSE
PPDFPFWFSPAQFTGHIILSKDATHVRDFRLFVPNHRSLNVDMEWLYGASESSNMEVDIG
YIPQMELEATGPSVPSVILDEDGSMIDSHLPSGEPLQFVFEEIKWQQELSWEEAARRLEV
AMYPFKKVSYLPFTEAFDRAKAENKLVHSILLWGALDDQSCUGSGRTLRETVLESSPILT
LLNESFISTWSLVKELEELQNNQENSSHQKLAGLHLEKYSFPVEMMICLPNGTVVHHINA
NYFLDITSVKPEEIESNLFSFSSTFEDPSTATYMQFLKEGLRRGLPLLQP

Sequence length

590

Interactions

View interactions

738

Show/Hide Causal Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the musculature	Likely pathogenic	rs2124448112	RCV001814511
Cleft lip/palate	Likely pathogenic; Pathogenic	rs121908185	RCV005624672
Congenital myopathy 4A, autosomal dominant	Likely pathogenic; Pathogenic	rs2124454648, rs121908188, rs797045950, rs886041584	RCV003389337 RCV003224794 RCV003338457 RCV004767208
Congenital myopathy with fiber type disproportion	Likely pathogenic; Pathogenic	rs121908184, rs368104077, rs121908188, rs797045950, rs886041686, rs199564797, rs1557813850, rs778603129	RCV002288464 RCV001353048 RCV000004754 RCV000192616 RCV001813775 RCV000791286 RCV000501710 RCV001732020
Eichsfeld type congenital muscular dystrophy	Likely pathogenic; Pathogenic	rs2047977957, rs377215510, rs2047928865, rs1333001112, rs2124450830, rs2124452873, rs2124454648, rs1192828749, rs758934983, rs752156505, rs2124436380, rs2124447526, rs2047850525, rs2124436429, rs2047929645 View all (64 more)	RCV001329141 RCV000792332 RCV001379243 RCV001379388 RCV001390083 RCV001388879 RCV003388845 RCV003485732 RCV002541163 RCV001933139 RCV001985309 RCV002007400 RCV002002358 RCV001920644 RCV001943491 RCV004596532 RCV002290859 RCV002281602 RCV003085918 RCV001248662 RCV000820386 RCV003115444 RCV003112082 RCV000004746 RCV000004747 RCV000004748 RCV000004749 RCV000004750 RCV000004751 RCV000004752 RCV000004753 RCV002516794 RCV002516827 RCV002815580 RCV002517132 RCV003025615 RCV003038643 RCV002789954 RCV002810021 RCV003153120 RCV003155881 RCV003223448 RCV001045576 RCV001381199 RCV000800896 RCV003230801 RCV003611020 RCV003611035 RCV003883428 RCV001060927 RCV001851178 RCV005869523 RCV001386658 RCV000545759 RCV000551007 RCV000541651 RCV000535222 RCV000799500 RCV000636857 RCV000636853 RCV000696370 RCV000698272 RCV000692095 RCV000761458 RCV001856153 RCV000814481 RCV000822846 RCV000823425 RCV000816417 RCV001046947 RCV001039378 RCV001036948 RCV001047138 RCV001039380 RCV001863086 RCV001377599 RCV001224095 RCV001214700 RCV001227309 RCV001229877 RCV001237547 RCV001251099
Malignant tumor of esophagus	Likely pathogenic; Pathogenic	rs121908188	RCV005887294
Muscular dystrophy	Likely pathogenic; Pathogenic	rs121908185, rs2047932848	RCV001195543 RCV001195544
See cases	Pathogenic; Likely pathogenic	rs377215510, rs199564797, rs2047928865	RCV001197254 RCV003985311 RCV001197253
SELENON-related disorder	Pathogenic	rs368104077	RCV004757096
SELENON-related myopathy	Likely pathogenic; Pathogenic	rs121908188, rs2047932848	RCV003993737 RCV003225961
SEPN1-related disorder	Likely pathogenic; Pathogenic	rs121908185, rs121908188	RCV000778977 RCV000778235

Show/Hide Unknown Diseases (15)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs35019869, rs112884056	RCV005889297 RCV005913670
Cervical cancer	Benign	rs35019869	RCV005889298
Clear cell carcinoma of kidney	Benign	rs35019869	RCV005889299
Colon adenocarcinoma	Benign	rs35019869	RCV005889296
Colorectal cancer	Benign	rs35019869	RCV005889300
EMG abnormality	Uncertain significance	rs765749301	RCV000415215
EMG: myopathic abnormalities	Uncertain significance	rs765749301	RCV000415215
Familial cancer of breast	Benign	rs6676342	RCV005905671
Joint laxity	Uncertain significance	rs765749301	RCV000415215
Melanoma	Benign	rs35019869	RCV005889304
Pain	Uncertain significance	rs765749301	RCV000415215
Sarcoma	Benign	rs35019869	RCV005889301
Thymoma	Benign	rs35019869	RCV005889302
Thyroid cancer, nonmedullary, 1	Benign	rs35019869	RCV005889303
Uterine corpus endometrial carcinoma	Benign	rs35019869	RCV005889305

Show/Hide Text Mining Associations (19)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Breast Neoplasms	Associate	27307030
Carcinoma Hepatocellular	Associate	26199857
Colorectal Neoplasms	Associate	35807897
Disease	Associate	26789268
Dropped Head Syndrome	Associate	28221305
Familial Hypophosphatemic Rickets	Associate	26789268
Genetic Diseases Inborn	Associate	18025044
Malignant Hyperthermia	Associate	35698232
Minicore Myopathy with External Ophthalmoplegia	Associate	12192640, 15608948, 19797833, 30932294
Mitochondrial Diseases	Associate	25735936
Muscular Diseases	Associate	16498447, 18025044, 19067361, 35698232
Muscular Dystrophies	Associate	25653289, 28558865
Myopathies Structural Congenital	Associate	19953533
Myotonia Congenita	Associate	16498447, 26789268, 30932294
Neoplasms	Associate	35807897
Neuromuscular Diseases	Associate	25735936
Rare Diseases	Associate	26789268
Rectal Neoplasms	Associate	22615972
Rigid spine syndrome	Associate	12192640, 16498447, 19067361, 27863379, 30642275

SELENON (selenoprotein N)