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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8910
Gene name	Sarcoglycan epsilon
Gene symbol	SGCE
Synonyms (NCBI Gene)	DYT11ESGepsilon-SG
Chromosome	7
Chromosome location	7q21.3
Summary	This gene encodes the epsilon member of the sarcoglycan family. Sarcoglycans are transmembrane proteins that are components of the dystrophin-glycoprotein complex, which link the actin cytoskeleton to the extracellular matrix. Unlike other family members

Show/Hide all (6)

miRTarBase ID	miRNA	Experiments
MIRT2621545	hsa-miR-4803	CLIP-seq
MIRT2621546	hsa-miR-586	CLIP-seq
MIRT2621547	hsa-miR-7	CLIP-seq
MIRT2621545	hsa-miR-4803	CLIP-seq
MIRT2621546	hsa-miR-586	CLIP-seq
MIRT2621547	hsa-miR-7	CLIP-seq

Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005794	Component	Golgi apparatus	IEA
GO:0005794	Component	Golgi apparatus	ISS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS	9475163
GO:0007160	Process	Cell-matrix adhesion	TAS	9405466
GO:0007517	Process	Muscle organ development	TAS	9405466
GO:0016010	Component	Dystrophin-associated glycoprotein complex	IDA	17993586
GO:0016012	Component	Sarcoglycan complex	IBA
GO:0016012	Component	Sarcoglycan complex	IEA
GO:0016012	Component	Sarcoglycan complex	TAS	9475163
GO:0016020	Component	Membrane	IEA
GO:0030425	Component	Dendrite	IEA
GO:0032590	Component	Dendrite membrane	IEA
GO:0032590	Component	Dendrite membrane	ISS
GO:0042383	Component	Sarcolemma	IEA
GO:0042995	Component	Cell projection	IEA

MIM	HGNC	e!Ensembl
604149	10808	ENSG00000127990

O43556

Protein name

Epsilon-sarcoglycan (Epsilon-SG)

Protein function

Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05510	Sarcoglycan_2	32 → 419	Sarcoglycan alpha/epsilon	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous.

Sequence

MQLPRWWELGDPCAWTGQGRGTRRMSPATTGTFLLTVYSIFSKVHSDRNVYPSAGVLFVH
VLEREYFKGEFPPYPKPGEISNDPITFNTNLMGYPDRPGWLRYIQRTPYSDGVLYGSPTA
ENVGKPTIIEITAYNRRTFETARHNLIINIMSAEDFPLPYQAEFFIKNMNVEEMLASEVL
GDFLGAVKNVWQPERLNAINITSALDRGGRVPLPINDLKEGVYVMVGADVPFSSCLREVE
NPQNQLRCSQEMEPVITCDKKFRTQFYIDWCKISLVDKTKQVSTYQEVIRGEGILPDGGE
YKPPSDSLKSRDYYTDFLITLAVPSAVALVLFLILAYIMCCRREGVEKRNMQTPDIQLVH
HSAIQKSTKELRDMSKNREIAWPLSTLPVFHPVTGEIIPPLHTDNYDSTNMPLMQTQQNL
PHQTQIPQQQTTGKWYP

Sequence length

437

Interactions

View interactions

	KEGG
	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy Dilated cardiomyopathy Viral myocarditis

570

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Myoclonic dystonia 11	Pathogenic; Likely pathogenic	rs398123812, rs2116693521, rs2117137466, rs2116694543, rs2116880618, rs2116881189, rs1808615750, rs2116880447, rs2116695873, rs2116723386, rs766778442, rs2116568066, rs2116722561, rs2116882157, rs1803142505 View all (93 more)	RCV000549530 RCV001375674 RCV001378801 RCV001381224 RCV001382930 RCV001388179 RCV001381225 RCV001796910 RCV002573300 RCV002544228 RCV001785867 RCV001785868 RCV001783738 RCV001799575 RCV002034705 RCV002014465 RCV001933476 RCV001939401 RCV001941839 RCV001965458 RCV002033823 RCV001985370 RCV001908922 RCV001923616 RCV002011072 RCV002049207 RCV002025803 RCV002007424 RCV001993233 RCV001993234 RCV002035484 RCV001941900 RCV001967209 RCV001946866 RCV001969833 RCV001901477 RCV001951331 RCV002250346 RCV002289463 RCV002289498 RCV002468785 RCV002468786 RCV002468787 RCV002468788 RCV002468789 RCV003037245 RCV003037247 RCV003106562 RCV000179425 RCV002815217 RCV000006124 RCV000006125 RCV000006127 RCV000006128 RCV000006129 RCV000006130 RCV000006131 RCV000006132 RCV000006135 RCV002881919 RCV002889814 RCV002979306 RCV003005907 RCV003019713 RCV003034993 RCV003047235 RCV003134001 RCV001782755 RCV003479592 RCV003505792 RCV003506034 RCV003505959 RCV003505960 RCV003504698 RCV003616478 RCV003616507 RCV003616698 RCV003616775 RCV003880423 RCV003988925 RCV002523920 RCV003319986 RCV000449540 RCV000639695 RCV005252918 RCV000534756 RCV000987929 RCV000530968 RCV000547605 RCV000578388 RCV000639685 RCV000639692 RCV000639691 RCV000639686 RCV000639690 RCV000698026 RCV003615855 RCV001861988 RCV000761353 RCV000799864 RCV000810138 RCV000801179 RCV000811007 RCV000987928 RCV000995639 RCV000995640 RCV000995641 RCV000995642 RCV001004097 RCV001050639 RCV001244611
Myoclonus-dystonia syndrome	Likely pathogenic; Pathogenic	rs1064794321	RCV005429021
SGCE-related disorder	Pathogenic	rs121908489, rs121908490	RCV004742214 RCV004742215

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Hepatocellular carcinoma	Benign	rs2272091	RCV005892657
Movement disorder	Conflicting classifications of pathogenicity	rs375899729	RCV003483765
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs755083075	RCV005901698
Uterine carcinosarcoma	Benign	rs2272091	RCV005892658

Show/Hide Text Mining Associations (43)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alcoholism	Associate	23365103
Anxiety	Associate	23365103
Attention Deficit Disorder with Hyperactivity	Associate	32115676
Autism Spectrum Disorder	Associate	35773312
Blood Platelet Disorders	Associate	35263928
Brain Diseases	Associate	36445406
Breast Neoplasms	Associate	35441810, 37838174
Carcinogenesis	Associate	26769141
Carcinoma Hepatocellular	Associate	21767414
Cerebral Palsy	Associate	32775037
Channelopathies	Associate	32115676
Chorea	Associate	22515636
COVID 19	Associate	33228475
Dystonia	Associate	17853490, 23849371, 25150291, 25209853, 29607243, 31731261, 32775037, 35041927, 36445406
Dystonic Disorders	Associate	19081669, 27625242, 29607243
Encephalitis Herpes Simplex	Associate	2495201
Epilepsies Myoclonic	Associate	16227522
Epilepsy	Associate	32115676
Food Addiction	Associate	23365103
general anxiety disorder	Associate	23365103
Growth Disorders	Associate	23237735
Hypophosphatasia	Associate	39276275
Intellectual Disability	Associate	29607243
Lymphoma	Associate	32345961
Mental Disorders	Associate	23365103, 32115676
Metabolic Diseases	Associate	23284065
Movement Disorders	Associate	22515636, 32775037
Multiple Pterygium Syndrome Autosomal Dominant	Associate	37637852
Muscle Spasticity	Associate	32775037
Muscular Dystrophies	Associate	31956970, 9475163
Myoclonic dystonia	Associate	12444570, 16227522, 17853490, 21157498, 22515636, 23237735, 23284065, 23365103, 25209853, 25406829, 25868953, 26157024, 27625242, 28102337, 28155872 View all (13 more)
Myoclonus	Associate	17853490, 19081669, 23284065, 25209853, 27625242, 29607243, 32775037
Obesity	Inhibit	27158277
Obsessive Compulsive Disorder	Associate	23365103, 34986800
Overweight	Associate	27158277
Paraplegia	Associate	17853490
Pediatric acute onset neuropsychiatric syndrome	Associate	35773312
Postural Orthostatic Tachycardia Syndrome	Associate	31413899, 32775037
Sarcoglycanopathies	Associate	9475163
Stomach Neoplasms	Associate	26769141
Tics	Associate	32775037
Tremor	Associate	25150291
Triple Negative Breast Neoplasms	Associate	37838174

SGCE (sarcoglycan epsilon)