SGCE (sarcoglycan epsilon)

Gene

• Entrez ID: 8910
• Gene name: Sarcoglycan epsilon
• Gene symbol: SGCE
• Synonyms (NCBI Gene): DYT11, ESG, epsilon-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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
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

Gene ontology (GO)

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

Other IDs

• MIM: 604149
• HGNC: 10808
• e!Ensembl: ENSG00000127990

Protein

• UniProt ID: 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

Pathways

KEGG:

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

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Myoclonic dystonia 11	Pathogenic; Likely pathogenic	rs398123812, rs2116693521, rs2117137466, rs2116694543, rs2116880618, rs2116881189, rs1808615750, rs2116880447, rs2116695873, rs2116723386, rs766778442, rs2116568066, rs2116722561, rs2116882157, rs1803142505, rs2116694965, rs2116917821, rs2116724997, rs2116881558, rs2116881481, rs368043832, rs765792098, rs2116695697, rs2116972578, rs2116724823, rs2116959244, rs2116880438, rs2116722345, rs1322313531, rs2116918021, rs2116882526, rs2116958989, rs2116972508, rs2116724268, rs2116972912, rs2116880537, rs2116723835, rs2485109812, rs2484943705, rs2484944679, rs2116722961, rs2484974735, rs2485109639, rs2485169498, rs2484923103, rs2484973932, rs1798791092, rs794727794, rs2484973224, rs121908489, rs121908490, rs2485135007, rs863223283, rs121908491, rs863223284, rs1584531843, rs121908492, rs863223285, rs1231727428, rs2116722242, rs2484944161, rs2485107502, rs2485108635, rs2484972496, rs758213105, rs886039595, rs2485107870, rs2485169694, rs2485168334, rs2484973845, rs2484932535, rs2485167836, rs2485183122, rs1057517990, rs375983969, rs2484944771, rs1376336723, rs2484922818, rs1057519246, rs1189469219, rs1064794321, rs1064797339, rs1554352819, rs1554355416, rs1554353106, rs1554345052, rs1554352952, rs1554358727, rs1554352906, rs1554345077, rs1554345162, rs1554345170, rs1562806242, rs1562805960, rs1562812370, rs1562853011, rs1562811414, rs1584637958, rs1584663425, rs1584663290, rs1584546131, rs372686312, rs1584546494, rs1584692239, rs1584700882, rs1584546238, rs1799563986, rs1804394258	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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Myoclonus-dystonia syndrome	Likely pathogenic; Pathogenic	rs1064794321	RCV005429021	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SGCE-related disorder	Pathogenic	rs121908489, rs121908490	RCV004742214 RCV004742215	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIA 11, MYOCLONIC	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIA MUSCULORUM DEFORMANS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL TORSION DYSTONIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC TORSION DYSTONIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC FAMILIAL DYSTONIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Movement disorder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOVEMENT DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCLONIC DYSTONIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Agoraphobia	Agoraphobia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	23365103		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	23365103	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	22626943, 23365103		★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	32115676	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	35773312	Associate	★☆☆☆☆ Found in Text Mining only
Beckwith-Wiedemann Syndrome	Beckwith-Wiedemann Syndrome	BEFREE	23803580		★☆☆☆☆ Found in Text Mining only
Benign Hereditary Chorea	Benign Hereditary Chorea	BEFREE	22515636		★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	35263928	Associate	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	36445406	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	29059683		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	35441810, 37838174	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	26769141	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	21767414	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar Diseases	BEFREE	21386109, 23474191		★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	32775037	Associate	★☆☆☆☆ Found in Text Mining only
Chorea	Chorea	Pubtator	22515636	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	20372795		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	18197083		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	PSYGENET_DG	22438980		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystonia	Dystonia	Pubtator	17853490, 23849371, 25150291, 25209853, 29607243, 31731261, 32775037, 35041927, 36445406	Associate	★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	15197720, 15389977, 17486590, 17898012, 18175340, 18759336, 20385914, 21386109, 23849371, 23893455, 24812007, 30028274		★☆☆☆☆ Found in Text Mining only
Dystonia, Primary	Dystonia	BEFREE	15390016, 17200151		★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	19081669, 27625242, 29607243	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsies Myoclonic	Myoclonic epilepsy	Pubtator	16227522	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	15389977, 24297365		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	32115676	Associate	★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	22515636		★☆☆☆☆ Found in Text Mining only
Familial Dystonia	Dystonia	BEFREE	20385914, 23284065		★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	BEFREE	15368614, 17702041		★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	LHGDN	17702041		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	26652670		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	23237735	Associate	★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	31706131		★☆☆☆☆ Found in Text Mining only
Hypophosphatasia	Hypophosphatasia	Pubtator	39276275	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	29607243	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	12926049		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	32345961	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	26769141		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	PSYGENET_DG	22438980		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental disorders	Mental Disorders	BEFREE	21713999, 23365103		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	23284065	Associate	★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	BEFREE	12874409, 17200151, 17853490, 18581468, 18759336, 21796726, 23561547, 25209853, 28102337		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	12402271, 18571946, 18852357, 19506430, 22438980, 23237735, 31706131		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Movement Disorders	Movement Disorders	LHGDN	12402271		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Movement Disorders	Movement disorder	Pubtator	22515636, 32775037	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Moyamoya Disease	Moyamoya Disease	LHGDN	17394247		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	28690014, 9475163		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	12874409, 17200151, 17853490, 18581468, 18759336, 21796726, 23561547, 25209853, 28102337		★☆☆☆☆ Found in Text Mining only
Myoclonic dystonia	Myoclonic Dystonia	CLINVAR_DG	11022010, 15728306, 17296918, 18175340, 18205193, 18355305, 19117362, 22259621, 23677909		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoclonic dystonia	Myoclonic Dystonia	BEFREE	11528394, 12325078, 12391346, 12391355, 12402271, 12444570, 12634861, 12707948, 12743249, 12874409, 14628853, 14978685, 15258227, 15368614, 15389977, 15390016, 15728306, 16099459, 16227522, 16240355, 16534121, 17101905, 17200151, 17296918, 17486590, 17702041, 17898012, 18175340, 18205193, 18265016, 18355305, 18571946, 18581468, 18651096, 18702114, 18719906, 18852357, 19066193, 19133653, 19147379, 19506430, 19896264, 20590807, 20684011, 20800530, 21220679, 21796726, 22026499, 22438980, 22515636, 22626943, 23140253, 23237735, 23365103, 23474191, 23561547, 23622412, 23677909, 24297365, 24638021, 25209853, 25406829, 25643588, 25648840, 25983243, 26157024, 26278497, 26652670, 26790671, 27625242, 27890709, 28102337, 28155872, 28690014, 28823931, 29429788, 29952836, 30302819, 30334277, 30849405, 31449710, 31706131		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoclonic dystonia	Myoclonic Dystonia	GENOMICS_ENGLAND_DG	11528394, 12325078, 22626943, 29607243		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoclonic dystonia	Myoclonic Dystonia	UNIPROT_DG	11528394, 12402271, 15079037, 15258227, 16227522, 17853490, 18175340, 18362280, 19066193, 21796726		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoclonic dystonia	Myoclonic dystonia	Pubtator	12444570, 16227522, 17853490, 21157498, 22515636, 23237735, 23284065, 23365103, 25209853, 25406829, 25868953, 26157024, 27625242, 28102337, 28155872, 31413899, 31956970, 32115676, 32775037, 33200041, 33588860, 33808167, 34986800, 35263928, 35773312, 36204995, 37637852, 37928887	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoclonic dystonia	Myoclonic Dystonia	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoclonic dystonia	Myoclonic Dystonia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoclonus-dystonia syndrome	Myoclonus-Dystonia Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Obesity	Obesity	Pubtator	27158277	Inhibit	★☆☆☆☆ Found in Text Mining only
Obsessive compulsive behavior	Obsessive-Compulsive Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	BEFREE	11805251, 15368614, 18197083, 28690014		★☆☆☆☆ Found in Text Mining only
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	LHGDN	17296918		★☆☆☆☆ Found in Text Mining only
Osteochondritis Dissecans	Osteochondritis Dissecans	BEFREE	11805251		★☆☆☆☆ Found in Text Mining only
Panic Attacks	Panic Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Panic Disorder	Panic Disorder	BEFREE	28690014		★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	Pubtator	17853490	Associate	★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	23893446, 24262166		★☆☆☆☆ Found in Text Mining only
Paroxysmal kinesigenic choreoathetosis	Paroxysmal kinesigenic choreoathetosis	BEFREE	22515636		★☆☆☆☆ Found in Text Mining only
Personality Disorders	Personality Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Russell-Silver syndrome	Russell-Silver Syndrome	BEFREE	23803580		★☆☆☆☆ Found in Text Mining only
Sarcoglycanopathies	Sarcoglycanopathies	Pubtator	9475163	Associate	★☆☆☆☆ Found in Text Mining only
Spinal cord myoclonus	Spinal Cord Myoclonus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	26769141		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26769141	Associate	★☆☆☆☆ Found in Text Mining only
Tremor	Tremor	Pubtator	25150291	Associate	★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	24638021		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	37838174	Associate	★☆☆☆☆ Found in Text Mining only
Writer`s Cramp	Writer`s Cramp	HPO_DG			★☆☆☆☆ Found in Text Mining only