SGCE - sarcoglycan epsilon Gene

Also Known as ESG; DYT11; epsilon-SG

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8910

About SGCE

Cytogenetic location: 7q21.3 Genomic coordinates (GRCh38): 7:94,584,980-94,656,133 (from NCBI)

This gene has 98 transcripts (splice variants), 207 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in ovary (RPKM 12.3), adrenal (RPKM 10.3) and 23 other tissues.

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 which are predominantly expressed in striated muscle, the epsilon sarcoglycan is more broadly expressed. Mutations in this gene are associated with myoclonus-dystonia syndrome. This gene is imprinted, with preferential expression from the paternal allele. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A pseudogene associated with this gene is located on chromosome 2. [provided by RefSeq, Oct 2016]

SGCE Products (12)

mRNA	Protein	Name
NM_001099400.2	NP_001092870.1	epsilon-sarcoglycan isoform 3
NM_001099401.2	NP_001092871.1	epsilon-sarcoglycan isoform 1
NM_001301139.2	NP_001288068.1	epsilon-sarcoglycan isoform 4
NM_001346713.2	NP_001333642.1	epsilon-sarcoglycan isoform 5
NM_001346715.2	NP_001333644.1	epsilon-sarcoglycan isoform 6
NM_001346717.2	NP_001333646.1	epsilon-sarcoglycan isoform 7
NM_001346719.2	NP_001333648.1	epsilon-sarcoglycan isoform 8
NM_001346720.2	NP_001333649.1	epsilon-sarcoglycan isoform 9
NM_001362807.2	NP_001349736.1	epsilon-sarcoglycan isoform 10
NM_001362808.2	NP_001349737.1	epsilon-sarcoglycan isoform 11
NM_001362809.2	NP_001349738.1	epsilon-sarcoglycan isoform 12
NM_003919.3	NP_003910.1	epsilon-sarcoglycan isoform 2

Gene Ontology

Cellular Component

Cellular Component GO Annotation	Evidence	Referencias	Source
part of dystrophin-associated glycoprotein complex	IDA IDA: Inferred from direct assay	17993586	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SGCE Protein Structure

Sarcoglycan_2

0
100
200
300
400
437 a.a.

Protein Preferred Names	Protein Names
epsilon-sarcoglycan	dystonia 11, myoclonic

Related Diseases

Diseases	Alias
Dystonia 11, Myoclonic	Myoclonic Dystonia Myoclonus-Dystonia Syndrome DYT11 Myoclonic Dystonia 11 Alcohol-Responsive Dystonia Myoclonus, Hereditary Essential Dystonia-11, Myoclonic Myoclonus-Dystonia Dystonia 11 Hereditary Essential Myoclonus Dystonia, Alcohol-Responsive Dyt-Sgce Dystonia, Alcohol Responsive Dystonia-11 Dystonia, Myoclonic Dystonia, Myoclonic, Type 11
Sgce Myoclonus-Dystonia	Dystonia 11 Dyt11 Dyt-Sgce
Myoclonus
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia
Obsessive-Compulsive Disorder	OCD Obsessive-Compulsive Disorder, Susceptibility To Anancastic Neurosis Obsessive Compulsive Disorder Anankastic Neurosis Obsessive-Compulsive Neurosis Obsessive Compulsive Behavior
Movement Disease	Movement Disorders Movement Disorder
Dystonia 12	DYT12 Rdp Generalized Dystonia Dystonia-12 Rapid-Onset Dystonia-Parkinsonism Familial Dystonia Dystonia Musculorum Deformans Dystonic Disorders Idiopathic Familial Dystonia Dystonia-Parkinsonism, Rapid-Onset Fragments Of Torsion Dystonia Dyt-Atp1a3 Rapid-Onset Dystonia Parkinsonism Rodp Dystonia, Type 12 Dystonia 3, Torsion, X-Linked Idiopathic Non-Familial Dystonia Symptomatic Torsion Dystonia Dystonia Disorders
Hemidystonia
Focal Hand Dystonia	Organic Writer'S Cramp Dystonia, Focal, Task-Specific
Gilles De La Tourette Syndrome	Tourette Syndrome Tourette Disorder GTS Ts Gilles De La Tourette'S Syndrome Motor-Verbal Tic Disorder Guinon'S Disease Psychogenic Tics Tourette'S Syndrome Chronic Motor And Vocal Tic Disorder Td Tourette'S Disease Combined Vocal And Multiple Motor Tic Disorder [De La Tourette] Combined Vocal And Multiple Motor Tic Disorder Tic De La Tourette
Cervical Dystonia	Spasmodic Torticollis
Segmental Dystonia
Multifocal Dystonia
Spasmodic Dystonia	Laryngeal Dystonia
Dystonia 1, Torsion, Autosomal Dominant	Dystonia Musculorum Deformans 1 Dystonia Musculorum Deformans DYT1 Early-Onset Torsion Dystonia Eotd Dystonia-1, Torsion Torsion Dystonia 1 Autosomal Dominant Torsion Dystonia 1 Dystonia-1 Oppenheim'S Dystonia Oppenheim-Ziehen Disease Early Onset Torsion Dystonia Dystonia 3, Torsion, X-Linked
Leber Optic Atrophy And Dystonia	LDYT Marsden Syndrome Leber Hereditary Optic Neuropathy With Dystonia Leber Hereditary Optic Neuropathy And Dystonia Familial Dystonia With Visual Failure And Striatal Lucencies Dystonia, Familial, With Visual Failure And Striatal Lucencies Leber Optic Atrophy With Dystonia Dystonia Familial, With Visual Failure And Striatal Lucencies Lhon And Dystonia Leber'S Hereditary Optic Neuropathy With Dystonia
Focal Dystonia	Dystonia, Focal, Task-Specific
Limb-Girdle Muscular Dystrophy	Lgmd Limb Girdle Muscular Dystrophy Muscular Dystrophies, Limb-Girdle Erb'S Muscular Dystrophy Leyden-Mbius Muscular Dystrophy Limb-Girdle Syndrome Myopathic Limb-Girdle Syndrome Limb Girdle Muscular Dystrophy Limb-Girdle Dystrophy, Muscular, Limb-Girdle Lgmd - [Limb-Girdle Muscular Dystrophy] Limb Girdle Muscle Dystrophy Limb-Girdle Myopathy
Dystonia 3, Torsion, X-Linked	X-Linked Dystonia-Parkinsonism DYT3 Xdp Lubag Dystonia-Parkinsonism, X-Linked Torsion Dystonia-Parkinsonism, Filipino Type Dyt-Taf1 X-Linked Dystonia-Parkinsonism Syndrome X-Linked Torsion Dystonia-Parkinsonism Syndrome Dystonia Musculorum Deformans X-Linked Dystonia-Parkinsonism/Lubag Lubag Syndrome Dystonia-3 Torsion Dystonia-Parkinsonism Filipino Type X-Linked Torsion Dystonia 3 Dystonia, Torsion, X-Linked, Type 3
Dyskinetic Cerebral Palsy	Athetoid Cerebral Palsy Athetoid Dyskinetic Cerebral Palsy Cerebral Palsy Athetoid Cerebral Palsy Dyskinetic Athetoid Cerebral Paralysis Dyskinetic Cerebral Paralysis Vogt Disease Athetoid Cerebrum Palsy Double Athetosis Syndrome État Marbré
Dystonia, Dopa-Responsive	Dystonia 5 Dopa-Responsive Dystonia DRD Dyt5 Dystonia-Parkinsonism With Diurnal Fluctuation Dyt-Th Hpd With Diurnal Fluctuation Hereditary Progressive Dystonia With Diurnal Fluctuation Dystonia, Progressive, With Diurnal Variation Segawa Syndrome, Autosomal Dominant Dystonia, Dopa-Responsive, Autosomal Dominant Dopa-Responsive Dystonia, Autosomal Dominant Dystonia, Dopa-Responsive, With Or Without Hyperphenylalaninemia Dyt-Gch1 Dyt-Spr Dystonia 5, Dopa-Responsive Type Hereditary Progressive Dystonia With Marked Diurnal Fluctuation Autosomal Dominant Dopa-Responsive Dystonia Autosomal Dominant Segawa Syndrome Dystonia-5 Progressive Dystonia With Diurnal Fluctuation Dystonia, Type 5, Dopa-Responsive Type
Hereditary Lymphedema Ii	Meige Syndrome Meige Disease Meige Lymphedema Hereditary Lymphedema Type Ii Lymphedema Hereditary Type 2 Lymphedema Praecox Lymphedema, Hereditary, Ii Blepharospasm-Oromandibular Dystonia Syndrome Meige Dystonia Meige'S Syndrome Late-Onset Lymphedema Lmph2 Lymphedema Preacox Lymphedema, Late-Onset Blepharospasm - Oromandibular Dystonia Blepharospasm-Oromandibular Dystonia Brueghel Syndrome Idiopathic Blepharospasm-Oromandibular Dystonia Syndrome Oral Facial Dystonia Segmental Cranial Dystonia Meigs Syndrome
Blepharospasm
Oromandibular Dystonia
Conversion Disorder	Conversion Hysteria Or Reaction Conversion Hysterical Neurosis Hysterical Neurosis, Conversion Type Fnd Functional Movement Disorder Functional Neurological Disorder Dissociative Disorder
Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive	Split Hand-Foot Malformation 1 With Sensorineural Hearing Loss SHFM1D Deafness, Congenital, With Split Hands And Feet Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss Congenital Deafness With Split Hands And Feet Split Hand-Split Foot-Deafness Syndrome Split Hand-Split Foot-Hearing Loss Syndrome Congenital Deafness And Split Hands And Feet Split-Hand/Foot Malformation, Type 1 With Sensorineural Hearing Loss Split-Hand-Foot Malformation With Sensorineural Hearing Loss
Lymphatic Malformation 5	Meige Syndrome Meige Disease Meige Lymphedema Lymphedema Praecox Lymphedema, Late-Onset Late-Onset Lymphedema LMPH2 Meigs Syndrome LMPHM5 Lymphedema, Hereditary, Ii, Formerly Lmph2, Formerly Hereditary Lymphedema Ii Demons-Meigs Syndrome Hereditary Lymphedema Type Ii Lymphedema, Hereditary, 2 Lymphedema, Hereditary, Ii Meige'S Disease
Hyperphenylalaninemia, Bh4-Deficient, B	Gtp Cyclohydrolase I Deficiency HPABH4B Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Gtp Cyclohydrolase I Deficiency Bh4-Deficient Hyperphenylalaninemia B Gtp Cyclohydrolase 1 Deficiency Tetrahydrobiopterin-Deficient Hyperphenylalaninemia B Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Gtp Cyclohydrolase 1 Deficiency Gtpch Deficiency Hyperphenylalaninemia Due To Gtp Cyclohydrolase Deficiency Atypical Severe Phenylketonuria Due To Gtp Cyclohydrolase I Deficiency Gch1 Deficiency Guanosine Triphosphate Cyclohydrolase I Deficiency Hyperphenylalaninemia With Neopterin Deficiency
Asperger Syndrome	Asperger Disorder Asperger Syndrome, Susceptibility To
Paranoid Personality Disorder
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Lgmd2b Muscular Dystrophy, Limb-Girdle, Type 2b Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e Beta-Sarcoglycanopathy Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y Muscular Dystrophy, Limb-Girdle, Type 3 Lgmd3 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s LGMDR2 Muscular Dystrophy, Limb-Girdle, Type 2s Limb-Girdle Muscular Dystrophy Type 2b Lgmd2e Limb-Girdle Muscular Dystrophy Due To Beta-Sarcoglycan Deficiency Muscular Dystrophy, Limb-Girdle, Type 2e Lgmd2s Autosomal Recessive Muscular Dystrophy Due To Lap1b Deficiency Autosomal Recessive Muscular Dystrophy Due To Torsin-1a-Interacting Protein 1 Deficiency Lgmd2y Muscular Dystrophy With Progressive Weakness, Distal Contractures And Rigid Spine Muscular Dystrophy, Limb-Girdle, Type 2y Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b Dysferlin-Related Lgmd R2 Lgmd Due To Dysferlin Deficiency Lgmd Type 2b Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency Limb-Girdle Muscular Dystrophy 2b Limb-Girdle Muscular Dystrophy, Type 2b Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 2 Dystrophy, Muscular, Limb-Girdle, Type 2b Limb-Girdle Muscular Dystrophy, Type 2e
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d	Alpha-Sarcoglycanopathy Dmda2 Duchenne-Like Autosomal Recessive Muscular Dystrophy Type 2 Lgmd2d Muscular Dystrophy, Limb-Girdle, Type 2d Primary Adhalinopathy
Alternating Hemiplegia Of Childhood	Alternating Hemiplegia Ahc Alternating Hemiplegia Syndrome Hemiplegia, Alternating, Of Childhood Hemiplegia, Crossed
Leukodystrophy, Hypomyelinating, 6	Habc Hypomyelinating Leukodystrophy 6 HLD6 H-Abc Hypomyelination With Atrophy Of Basal Ganglia And Cerebellum Leukodystrophy, Hypomyelinating, With Atrophy Of The Basal Ganglia And Cerebellum Hypomyelinating Leukodystrophy With Atrophy Of The Basal Ganglia And Cerebellum HLD Leukodystrophy, Hypomyelinating, Type 6
Muscular Dystrophy	Muscular Dystrophies Congenital Md Congenital Muscular Dystrophy Cmd Mdc Dystrophy, Muscular Gower'S Muscular Dystrophy Progressive Musclular Dystrophy Pseudohypertrophic Atrophy Pseudohypertrophic Muscle Paralysis Pseudohypertrophic Muscular Atrophy Pseudohypertrophic Muscular Dystrophy Pseudohypertrophic Paralysis Pseudomuscular Hypertrophy
Choreatic Disease	Chorea Hereditary Chorea
Autosomal Recessive Limb-Girdle Muscular Dystrophy	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive
Silver-Russell Syndrome 1	Silver-Russell Syndrome Russell-Silver Syndrome Silver-Russell Dwarfism Rss SRS1 Srs Silver Russell Dwarfism Russell Silver Syndrome Silver Russell Syndrome
Lesch-Nyhan Syndrome	Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency LNS Hprt Deficiency Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency Hypoxanthine Guanine Phosphoribosyltransferase Deficiency X-Linked Hyperuricemia Choreoathetosis Self-Mutilation Syndrome Hprt1 Deficiency Hprt Deficiency, Complete Deficiency Of Imp Pyrophosphorylase Hgprt Deficiency Lesch-Nyhan Disease Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency Hg-Prt Deficiency Hypoxanthine-Guanine-Phosphoribosyltransferase Deficiency Lesch - Nyhan Syndrome Hprt1 Disorders Lesch Nyhan Syndrome Complete Hprt Deficiency Complete Lesch Nyhan Disease Complete Hprt Deficiency Deficiency Of Guanine Phosphoribosyltransferase Deficiency Of Hypoxanthine Phosphoribosyltransferase Hypoxanthine Phosphoribosyltransferase Deficiency Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome Juvenile Hyperuricemia Syndrome Lnd Primary Hyperuricemia Syndrome Total Hprt Deficiency Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency X-Linked Primary Hyperuricemia X-Linked Uric Aciduria Enzyme Defect Hprt Complete Deficiency Hprt Deficiency Grade Iv Hypoxanthine Guanine Phosphoribosyltransferase Complete Deficiency Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade Iv Hypoxanthine-Guanine Phosphoribosyltransferase 1 Deficiency Hprt - [ Hypoxanthine-Guanine Phosphoribosyltransferase] Complete Deficiency Total Hgprt - [Hypoxanthine-Guanine Phosphoribosyltransferase] Deficiency
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders
Beckwith-Wiedemann Syndrome	Wiedemann-Beckwith Syndrome BWS Exomphalos-Macroglossia-Gigantism Syndrome Emg Syndrome Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation Emg Abnormality Wbs Exomphalos Macroglossia Gigantism Syndrome Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation Macroglossia Exomphalos Gigantism
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Referencia número	Nombre del producto	Efecto	Pureza	Rare Diseases
HY-RS12793	SGCE Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	SGCE	VGNC	VGNC:46094
Felis catus	SGCE	VGNC	VGNC:65076
Macaca mulatta	SGCE	VGNC	VGNC:77193
Mus musculus	SGCE	MGD	MGI:1329042
Rattus norvegicus	SGCE	RGD	RGD:1303201
Bos taurus	SGCE	VGNC	VGNC:34538
Others	SGCE	NCBI