Property Summary

NCBI Gene PubMed Count 79
PubMed Score 160.24
PubTator Score 154.01

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (19)

Disease log2 FC p
psoriasis -1.400 1.1e-05
osteosarcoma 1.492 8.7e-03
Duchenne muscular dystrophy 1.088 4.4e-07
autosomal dominant Emery-Dreifuss muscul... 1.041 4.6e-03
Atopic dermatitis -1.300 4.3e-04
non-small cell lung carcinoma -1.400 6.1e-22
intraductal papillary-mucinous adenoma (... -3.800 2.2e-05
intraductal papillary-mucinous carcinoma... -3.300 1.2e-03
intraductal papillary-mucinous neoplasm ... -3.400 2.2e-03
colon cancer -2.800 1.2e-02
Breast cancer 3.000 3.2e-02
interstitial cystitis -1.100 4.8e-03
lung adenocarcinoma -1.300 1.3e-09
invasive ductal carcinoma -1.157 5.2e-03
breast carcinoma -1.100 8.6e-17
ductal carcinoma in situ -1.200 5.3e-03
ulcerative colitis 1.300 6.9e-03
ovarian cancer -2.900 1.4e-05
dermatomyositis 1.100 1.5e-02

Gene RIF (62)

PMID Text
25209853 Tata confirms that SGCE mutations are most commonly identified in Myoclonus dystonia syndrome patients with (1) age at onset </=10 years and (2) predominant upper body involvement of a pure myoclonus-dystonia.
25150291 found one patient with a novel heterozygous frameshift mutation in the DYT11 gene
25034659 A novel frameshift mutation of the SGCE gene in an Iranian family with Myoclonus-dystonia syndrome confirming the variability of the clinical symptoms caused by the same mutation within members of a family.
24297365 The co-occurrence of seizures and myoclonus-dystonia suggests that they are both due to the same underlying SGCE mutation
23677909 The results of this study suggested performing gene dosage analysis by multiple ligation-dependent probe amplification (MLPA) to individuate large SGCE deletions that can be responsible for complex phenotypes.
23561547 In myoclonus-dystonia syndrome patients a substantial mutation in exon 3 of SGCE gene was found.
23365103 SGCE mutations are associated with a specific psychiatric phenotype consisting of compulsivity, anxiety and alcoholism in addition to the characteristic motor phenotype.
23284065 Although reduced penetrance in DYT11-MD has been attributed to the maternal imprinting epsilon-sarcoglycan mutations, NM-DYT11 carriers showed significant metabolic abnormalities that are not explained by this genetic model.
22626943 anxiety disorders and executive dysfunctions may be part of the phenotype of myoclonus-dystonia patients with a DYT11 mutation
22026499 This report presents a novel mutation in the SGCE gene causing myoclonus dystonia and extends the phenotype of myoclonus dystonia to also include alcohol-induced dystonia.
21767414 the mRNA expression level of SGCE were significantly up-regulated in tumorous liver tissues compared with corresponding nontumorous counterparts
21713999 The results of this review confirmed the association of epsilon-sarcoglycan gene mutations with psychiatric disease and suggest a possible separation of the motor and psychiatric effects.
21425342 This study demonistrated that Familial 7q21.3 microdeletion involving epsilon-sarcoglycan causing myoclonus dystonia, cognitive impairment, and psychosis.
21386109 This study provides the first neurophysiological evidence of cerebellar dysfunction in DYT11 dystonia and supports a role of cerebellar dysfunction in the myoclonus-dystonia phenotype.
21320983 Biased SGCE gene expression is based on parent of origin rather than on a strictly dichotomous maternal imprinting mechanism, consistent with clinical observations.
21220679 Bilateral deep brain stimulation of the internal pallidum proves to be safe and highly effective therapy in a homogeneous population of patients with myoclonus-dystonia due to genetically proved epsilon-sarcoglycan deficiency.
21219543 Dystonia severity in twenty-five clinically affected DYT11 mutation carriers is strongly correlated with increased gray matter volume in bilateral putamina.
21157498 loss of function of the brain-specific SGCE isoform underlies the exclusively neurological myoclonus-dystonia phenotype
20800530 This study identified three novel mutations of SGCE in the respective three myoclonus-dystonia syndrome families in Taiwan.
20372795 MMP-7 and SGCE are distinctive molecular factors in sporadic colorectal cancers from the mutator phenotype pathway
20298200 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19896264 Physiology and surgical response for a 63-year-old woman who underwent deep brain stimulation for myoclonus dystonia related to a SGCE mutation.
19441135 writer's cramp as presenting symptom is not associated with mutations in DYT11, DYT16, but it can be the sole manifestation of DYT1 GAG deletion mutation carriers.
19147379 33 month old girl & her twin brother presenting myoclonus on intentional tasks; family history was positive for paternal uncle, his 2 daughters & paternal great grandfather; sequencing revealed a novel nonsense mutation c.942C>A (p.Tyr314X) in exon 7.
19117362 In this study identified heterozygous epsilon sarcoglycan (SGCE) mutations, including a novel deletion of exon 10 in patient with myoclonus-dystonia.
19066193 Sequence analysis of the SGCE gene and screening for copy number variations were performed.
19066193 Observational study of gene-disease association. (HuGE Navigator)
18852357 We identified a new genetic alteration-maternal chromosome 7 disomy-that can cause myoclonus-dystonia. This alteration results in repression of both alleles of the maternally imprinted SGCE gene and suggests SGCE loss of function as the disease mechanism.
18702114 In Inherited myoclonus dystonia family case, father and daughter were found to carry the R237X mutation in the SGCE gene in heterozygous status.
18651096 SGCE gene deletion is associated with myoclonus-dystonia, language delay, and malformative anomalies.
18581468 A new 662 + 1insG mutation in exon 5 leads to a frameshift with a downstream stop codon, maybe interfering with mRNA stability. This is the first Chinese SGCE mutation leading to myoclonus-dystonia syndrome with a varied phenotype in the same family.
18362280 We describe the myoclonus in patients with mutations in the SGCE gene and characterize the pattern of this myoclonus. This pattern may improve the sensitivity of clinical tests and to define populations suitable for therapeutic trials.
18355305 No muscle involvement in myoclonus-dystonia caused by epsilon-sarcoglycan gene mutations.
18349702 There was no association of the SCGE coding & flanking intronic region in OCD and/or GTS or CMT. The functional relevance of a newly found c.1314+172T>C 3'-untranslated region variant has yet to be determined.
18205193 Two heterozygous deletions of the entire SGCE gene and flanking DNA and a heterozygous deletion of exon 2 only were detected, accounting for 33% (3/9) of the mutations found.
18175340 Myoclonus-dystonia due to SGCE protein mutations is characterized by early onset myoclonic jerks, often associated with dystonia.
18162078 Real-time PCR showed that ETOH significantly altered the expression of genes involved in cell adhesion. There was an increase in the expression of alpha and beta Laminins 1, beta Integrins 3 and 5, Secreted phosphoprotein1 and Sarcoglycan epsilon.
18098280 intragenic deletions with SGCE and it highlights the need to include exonic copy number variation when performing mutational analysis of SGCE.
17898012 Genomic deletion size at the epsilon-sarcoglycan locus determines the clinical phenotype in myoclonus-dystonia.
17702043 Two additional patients carried a de novo SGCE nonsense mutation in exon 3 (R97X) and a novel SGCE missense mutation in exon 6 (G227V) in this study.
17702041 Autosomal dominant myoclonus-dystonia and Tourette syndrome in a family without linkage to the SGCE gene.
17394247 Korean Myoclonus-dystonia syndrome family with a novel splicing mutation of the SGCE gene and a unique phenotype mimicking Moya-Moya disease.
17394244 Our findings are not sufficient to conclude whether different SGCE mutations could lead to different phenoytpes of myoclonus-dystonia.
17296918 Obsessive-compulsive disorder and alcohol dependence are associated with manifesting mutated SGCE.
17230465 a heterozygous point mutation in the epsilon-sarcoglycan gene, which leads to skipping of exon 5 in a family with myoclonus-dystonia syndrome complicated with severe depression
17200151 Some Myoclonus-dystonia syndrome-associated mutations in SGCE impair trafficking of the mutant protein to the plasma membrane.
16534121 onset with both myoclonus and dystonia, and axial dystonia were detected significantly more often in the epsilon-sarcoplycan mutation carriers.
15728306 Observational study of genotype prevalence. (HuGE Navigator)
15728306 3 new mutations were found in patients with essential myoclous or myoclonic dystonia:R372X, 564-576del, IVS3-3T>C.
15679701 Observational study of genotype prevalence. (HuGE Navigator)
15627203 Mutatoins sarse not sassociaatd with sporadic Gilles de la Tourette syndrome.
15390016 Observational study of genotype prevalence. (HuGE Navigator)
15368614 Observational study of gene-disease association. (HuGE Navigator)
14978685 We describe 3 children with a similar clinical picture of autosomal dominant M-D and an SGCE mutation in only one of them, suggesting that M-D is genetically heterogeneous.
12821748 Genetic analysis of a 5-generation Dutch family with inherited myoclonus-dystonia revealed a 1-bp insertion (885Tins)in exon 7 of the SGCE gene, resulting in frameshift and subsequent protein truncation at amino acid 297.
12707948 Severe myoclonus-dystonia syndrome characterized by obsessive-compulsive disorder, depression, and anxiety was shown to be associated with a novel truncating mutation located within exon 4 of SGCE.
12634861 The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted
12620933 placental transcription from SGCE remained unchanged throughout pregnancy
12444570 Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia
12402271 Myoclonus-dystonia is a movement disorder associated with mutations in the epsilon-sarcoglycan gene (SGCE) in most families and in the DRD2 and DYT1 genes in two single families.
12325078 Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype
11528394 Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome

AA Sequence

MQLPRWWELGDPCAWTGQGRGTRRMSPATTGTFLLTVYSIFSKVHSDRNVYPSAGVLFVHVLEREYFKGE      1 - 70
FPPYPKPGEISNDPITFNTNLMGYPDRPGWLRYIQRTPYSDGVLYGSPTAENVGKPTIIEITAYNRRTFE     71 - 140
TARHNLIINIMSAEDFPLPYQAEFFIKNMNVEEMLASEVLGDFLGAVKNVWQPERLNAINITSALDRGGR    141 - 210
VPLPINDLKEGVYVMVGADVPFSSCLREVENPQNQLRCSQEMEPVITCDKKFRTQFYIDWCKISLVDKTK    211 - 280
QVSTYQEVIRGEGILPDGGEYKPPSDSLKSRDYYTDFLITLAVPSAVALVLFLILAYIMCCRREGVEKRN    281 - 350
MQTPDIQLVHHSAIQKSTKELRDMSKNREIAWPLSTLPVFHPVTGEIIPPLHTDNYDSTNMPLMQTQQNL    351 - 420
PHQTQIPQQQTTGKWYP                                                         421 - 437
//

Text Mined References (85)

PMID Year Title
27242657 2016 Distribution and Coexistence of Myoclonus and Dystonia as Clinical Predictors of SGCE Mutation Status: A Pilot Study.
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26783545 2016 Psychiatric disorders, myoclonus dystonia and SGCE: an international study.
25868953 2015 Japanese familial case of myoclonus-dystonia syndrome with a splicing mutation in SGCE.
25582306 2015 Unusual ?-synuclein and cerebellar pathologies in a case of hereditary myoclonus-dystonia without SGCE mutation.
25209853 2014 SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype.
25204586 2014 Myoclonus-dystonia (DYT11) with novel SGCE mutation misdiagnosed as a primary psychiatric disorder.
25150291 2014 Novel DYT11 gene mutation in patients without dopaminergic deficit (SWEDD) screened for dystonia.
25034659 2014 Myoclonus dystonia syndrome: a novel ?-sarcoglycan gene mutation with variable clinical symptoms.
24297365 2014 Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation.
23677909 2013 Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: a reappraisal of genetic testing criteria.
23561547 2013 A novel conserved mutation in SGCE gene in 3 unrelated patients with classical phenotype myoclonus-dystonia syndrome.
23365103 2013 SGCE mutations cause psychiatric disorders: clinical and genetic characterization.
23284065 2013 Metabolic changes in DYT11 myoclonus-dystonia.
22626943 2012 Cognition and psychopathology in myoclonus-dystonia.
22026499 2012 A novel SGCE gene mutation causing myoclonus dystonia in a family with an unusual phenotype.
21796726 2011 A gain-of-glycosylation mutation associated with myoclonus-dystonia syndrome affects trafficking and processing of mouse ?-sarcoglycan in the late secretory pathway.
21767414 2011 Digital karyotyping reveals probable target genes at 7q21.3 locus in hepatocellular carcinoma.
21713999 2011 Psychiatric disorders, myoclonus dystonia, and the epsilon-sarcoglycan gene: a systematic review.
21425342 2011 Familial 7q21.3 microdeletion involving epsilon-sarcoglycan causing myoclonus dystonia, cognitive impairment, and psychosis.
21386109 2011 Impaired saccadic adaptation in DYT11 dystonia.
21320983 2011 Functional magnetic resonance imaging evidence of incomplete maternal imprinting in myoclonus-dystonia.
21220679 2011 Bilateral deep brain stimulation of the pallidum for myoclonus-dystonia due to ?-sarcoglycan mutations: a pilot study.
21219543 2011 Severity of dystonia is correlated with putaminal gray matter changes in myoclonus-dystonia.
21157498 2011 SGCE isoform characterization and expression in human brain: implications for myoclonus-dystonia pathogenesis?
20800530 2010 Large SGCE deletion contributes to Taiwanese myoclonus-dystonia syndrome.
20372795 2010 MMP-7 and SGCE as distinctive molecular factors in sporadic colorectal cancers from the mutator phenotype pathway.
20298200 2010 Confirmed rare copy number variants implicate novel genes in schizophrenia.
19896264 2010 Clinical and neurophysiological improvement of SGCE myoclonus-dystonia with GPi deep brain stimulation.
19441135 2009 Screening for dystonia genes DYT1, 11 and 16 in patients with writer's cramp.
19159218 2009 Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
19147379 2009 Myoclonus in fraternal twin toddlers: a French family with a novel mutation in the SGCE gene.
19117362 2009 "Jerky" dystonia in children: spectrum of phenotypes and genetic testing.
19066193 2009 Myoclonus-dystonia: clinical and genetic evaluation of a large cohort.
18852357 2008 Myoclonus-dystonia due to maternal uniparental disomy.
18702114 2008 Unusual familial presentation of epsilon-sarcoglycan gene mutation with falls and writer's cramp.
18651096 2008 Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia-plus syndrome: paternal deletion of the epsilon-sarcoglycan (SGCE) gene.
18581468 2008 A novel mutation of the epsilon-sarcoglycan gene in a Chinese family with myoclonus-dystonia syndrome.
18362280 2008 Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations.
18355305 2008 No muscle involvement in myoclonus-dystonia caused by epsilon-sarcoglycan gene mutations.
18349702 2008 Screening of the epsilon sarcoglycan gene in Tourette syndrome and obsessive compulsive disorder.
18205193 2008 Myoclonus-dystonia: significance of large SGCE deletions.
18175340 2008 Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations.
18162078 2008 Ethanol increases fetal human neurosphere size and alters adhesion molecule gene expression.
18098280 2008 Large deletions account for an increasing number of mutations in SGCE.
17993586 2008 Expression of the dystrophin-glycoprotein complex is a marker for human airway smooth muscle phenotype maturation.
17898012 2007 Genomic deletion size at the epsilon-sarcoglycan locus determines the clinical phenotype.
17853490 2008 Myoclonus-dystonia syndrome: clinical presentation, disease course, and genetic features in 11 families.
17702043 2007 Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia.
17702041 2007 Autosomal dominant myoclonus-dystonia and Tourette syndrome in a family without linkage to the SGCE gene.
17394247 2007 Novel SGCE gene mutation in a Korean patient with myoclonus-dystonia with unique phenotype mimicking Moya-Moya disease.
17394244 2007 Novel and de novo mutations of the SGCE gene in Brazilian patients with myoclonus-dystonia.
17296918 2007 Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers.
17230465 2007 Myoclonus-dystonia syndrome with severe depression is caused by an exon-skipping mutation in the epsilon-sarcoglycan gene.
17200151 2007 SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA.
16534121 2006 Phenotype-genotype correlation in Dutch patients with myoclonus-dystonia.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16227522 2006 Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes.
15728306 2005 The epsilon-sarcoglycan gene in myoclonic syndromes.
15679701 2005 Clinical and molecular genetic evaluation of patients with primary dystonia.
15627203 2005 Epsilon-sarcoglycan is not involved in sporadic Gilles de la Tourette syndrome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15390016 2004 Lack of mutations in the epsilon-sarcoglycan gene in patients with different subtypes of primary dystonias.
15368614 2004 Examination of the SGCE gene in Tourette syndrome patients with obsessive-compulsive disorder.
15258227 2004 Genetic heterogeneity in ten families with myoclonus-dystonia.
15193417 2004 Identification and characterization of epsilon-sarcoglycans in the central nervous system.
15079037 2004 Myoclonus-dystonia: detection of novel, recurrent, and de novo SGCE mutations.
14978685 2004 Clinical and genetic features of myoclonus-dystonia in 3 cases: a video presentation.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12975309 2003 The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
12853948 2003 The DNA sequence of human chromosome 7.
12821748 2003 Hereditary myoclonus-dystonia associated with epilepsy.
12707948 2003 Severe myoclonus-dystonia syndrome associated with a novel epsilon-sarcoglycan gene truncating mutation.
12634861 2003 The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted.
12620933 2003 Temporal regulation of the expression of syncytin (HERV-W), maternally imprinted PEG10, and SGCE in human placenta.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12444570 2002 Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia.
12402271 2002 Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations.
12325078 2002 Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype.
12060343 2002 Defective assembly of sarcoglycan complex in patients with beta-sarcoglycan gene mutations. Study of aneural and innervated cultured myotubes.
11528394 2001 Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome.
10993904 2000 Expression of gamma -sarcoglycan in smooth muscle and its interaction with the smooth muscle sarcoglycan-sarcospan complex.
10554001 1999 Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31.
9475163 1998 Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene.
9405466 1997 epsilon-Sarcoglycan, a broadly expressed homologue of the gene mutated in limb-girdle muscular dystrophy 2D.