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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SGCE Gene

protein-coding   GIFtS: 59
GCID: GC07M094214

sarcoglycan, epsilon


(Previous symbol: DYT11)
 Explore 33 diseases affiliated with
SGCE via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SGCE    

Aliases
for SGCE gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Sarcoglycan, Epsilon1 2     Epsilon-SG3
DYT111 2 5     Epsilon-Sarcoglycan1
ESG2 3     Epsilon-SG3
Dystonia 11, Myoclonic2     

External Ids:    HGNC: 108081   Entrez Gene: 89102   Ensembl: ENSG000001279907   OMIM: 6041495   UniProtKB: O435563   

Export aliases for SGCE gene to outside databases

Previous GC identifers: GC07M092749 GC07M093812 GC07M093826 GC07M093859 GC07M094052 GC07M088821


Summaries
for SGCE gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for SGCE:
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.(provided by RefSeq, Oct 2010)

UniProtKB/Swiss-Prot: SGCE_HUMAN, O43556
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

Gene Wiki entry for SGCE


Genomic Views
for SGCE gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_007933.15  NT_079595.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SGCE gene promoter:
         C/EBPbeta   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SGCE promoter sequence
   Search SABiosciences Chromatin IP Primers for SGCE

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SGCE


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q21.3   Ensembl cytogenetic band:  7q21.3   HGNC cytogenetic band: 7q21.3

SGCE Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SGCE gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M094214:  view genomic region     (about GC identifiers)

Start:
 94,214,536 bp from pter      End:
 94,285,521 bp from pter
Size:
 70,986 bases      Orientation:
 minus strand

1 alternative location:
Chr7-,CRA_TCAG 93,543,689-93,614,670     

Proteins
for SGCE gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: SGCE_HUMAN, O43556 (See protein sequence)
Recommended Name: Epsilon-sarcoglycan  
Size: 437 amino acids; 49851 Da
Subcellular location: Cell membrane, sarcolemma; Single-pass membrane protein (Potential). Cytoplasm, cytoskeleton (By
similarity)
Sequence caution: Sequence=AAC04368.1; Type=Erroneous initiation;
Secondary accessions: B2R8N2 D6W5Q8 E9PF60 Q6L8P0 Q75MH8 Q8NFG8 Q8WW28
Alternative splicing: 2 isoforms:  O43556-1   O43556-3   (Brain-specific)

Explore the universe of human proteins at neXtProt for SGCE: NX_O43556

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O43556

    • SGCE Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001092870.1  NP_001092871.1  NP_003910.1  

    ENSEMBL proteins: 
     ENSP00000431080   ENSP00000265735   ENSP00000398930   ENSP00000394061   ENSP00000388734  
     ENSP00000397536   ENSP00000405313   ENSP00000398344   ENSP00000391892  

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    OriGene Protein Over-expression Lysate (see all 2): SGCE
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    Novus Biologicals SGCE Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005856cytoskeleton IEA--
    GO:0005887integral to plasma membrane TAS9475163
    GO:0016010dystrophin-associated glycoprotein complex IDA17993586
    GO:0016012sarcoglycan complex IEA--


    SGCE for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for SGCE gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SGCE for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR006644 Cadg
     IPR008908 Sarcoglycan_2

    Graphical View of Domain Structure for InterPro Entry O43556

    ProtoNet protein and cluster: O43556

    2 Blocks protein families:
    IPB006644 Dystroglycan-type cadherin-like domain
    IPB008908 Sarcoglycan alphaepsilon


    UniProtKB/Swiss-Prot: SGCE_HUMAN, O43556
    Similarity: Belongs to the sarcoglycan alpha/epsilon family


    Function
    for SGCE gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: SGCE_HUMAN, O43556
    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

         Genatlas biochemistry entry for SGCE:
    sarcoglycan epsilon,dystrophin associated protein,broadly expressed in muscle and non muscle cells of embryo and
    adult,associating with other sarcoglycans,stabilizing the link between dystroglycan and dystrophin/utrophin

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SGCE
    8/15 QIAGEN miScript miRNA Assays for microRNAs that regulate SGCE (see all 15):
    hsa-miR-142-5p hsa-miR-495 hsa-miR-520d-5p hsa-miR-429 hsa-miR-7-2* hsa-miR-586 hsa-miR-374c hsa-miR-200c
    SwitchGear 3'UTR luciferase reporter plasmid: SGCE 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SGCE (see all 7)
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    OriGene siRNA: SGCE
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SGCE

    Gene Editing
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    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SGCE 

    Cell Line
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    Search LifeMap BioReagents cell lines for SGCE

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SGCE

    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--


    SGCE for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Sgcetm1Ygl for SGCE
         6 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Sgce):
     behavior/neurological  cardiovascular system  cellular  immune system  muscle 
     nervous system 

    SGCE for phenotypes           About GeneDecksing


    Pathways & Interactions
    for SGCE gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SGCE

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/34 Interacting proteins for SGCE (O435562, 3 ENSP000003989304) via UniProtKB, MINT, STRING, and/or I2D (see all 34)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARIH2O953762, 3MINT-63288 I2D: score=5 
    TLE1ENSP000003656824STRING: ENSP00000365682
    CAV3ENSP000003419404STRING: ENSP00000341940
    DAG1ENSP000003124354STRING: ENSP00000312435
    DMDENSP000003549234STRING: ENSP00000354923
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007160cell-matrix adhesion TAS9405466
    GO:0007517muscle organ development TAS9405466


    SGCE for ontologies           About GeneDecksing



    Drugs & Compounds
    for SGCE gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SGCE for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SGCE
    1 Novoseek chemical compound relationship for SGCE gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    peg-10 93.2 7 12620933 (2), 19171046 (1), 18480470 (1), 11318613 (1) (see all 5)

    Search CenterWatch for drugs/clinical trials and news about SGCE 

    Transcripts
    for SGCE gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for SGCE gene (3 alternative transcripts): 
    NM_001099400.1  NM_001099401.1  NM_003919.2  

    Unigene Cluster for SGCE:

    Sarcoglycan, epsilon
    Hs.371199  [show with all ESTs]
    Unigene Representative Sequence: AK295021
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000522045 ENST00000265735(uc003unm.2 uc003unl.2 uc003unn.2 uc011kic.1)
    ENST00000445866 ENST00000437425 ENST00000447873 ENST00000428696 ENST00000472326
    ENST00000415788(uc011kid.1) ENST00000462731 ENST00000450385 ENST00000425444


    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SGCE
    8/15 QIAGEN miScript miRNA Assays for microRNAs that regulate SGCE (see all 15):
    hsa-miR-142-5p hsa-miR-495 hsa-miR-520d-5p hsa-miR-429 hsa-miR-7-2* hsa-miR-586 hsa-miR-374c hsa-miR-200c
    SwitchGear 3'UTR luciferase reporter plasmid: SGCE 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SGCE (see all 7)
    OriGene shRNA RFP: SGCE
    OriGene siRNA: SGCE
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SGCE
    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SGCE 
    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SGCE

    Additional cDNA sequence: 

    AB117974.1 AF031920.1 AF036364.1 AF516515.1 AJ000534.1 AK295021.1 AK298220.1 AK313438.1 
    AY359042.1 BC021709.2 

    13 DOTS entries:

    DT.100786625  DT.452904  DT.91746569  DT.100786623  DT.100786620  DT.40121592  DT.100762448  DT.95173187 
    DT.91681096  DT.95173186  DT.99950015  DT.40121591  DT.92034733 

    24/157 AceView cDNA sequences (see all 157):

    AI692544 AA424550 BQ879635 BQ717921 AA424641 AA232758 CR596310 BG055475 
    BX393441 AB117974 AI344582 BM083297 BM981628 Z45071 BM128390 CR606329 
    AI374598 BE220963 AJ000534 AL547670 AI648380 AL702273 BQ932247 CD722975 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for SGCE (see all 9)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b · 14c
    SP1:                                -     -     -                                                           -           -                 -                     
    SP2:                                -     -     -                                                           -     -     -                                       
    SP3:                                            -                                                                                                               
    SP4:                                                                                                        -     -     -                 -                     
    SP5:                                -     -     -     -                                                                                                         


    ECgene alternative splicing isoforms for SGCE

    Expression
    for SGCE gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SGCE expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTGGCAGTAT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SGCE expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeInner Nuclear LayerMature Rod Bipolar CellsBipolar, Retina
    KidneyRenal VesicleKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See SGCE Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SGCE

    SOURCE GeneReport for Unigene cluster: Hs.371199

    UniProtKB/Swiss-Prot: SGCE_HUMAN, O43556
    Tissue specificity: Ubiquitous

        SABiosciences Expression via Pathway-Focused PCR Array including SGCE: 
              Extracellular Matrix & Adhesion Molecules in human mouse rat

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    In Situ
    Assay Products:     
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    Orthologs
    for SGCE gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for SGCE gene from 4/14 species (see all 14)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves SGCE1 sarcoglycan, epsilon 84.56(n)
    94.68(a)    		   420567  XM_003640683.1  XP_003640731.1 
    lizard
    (Anolis carolinensis)    		 Reptilia SGCE6
    		 --
    		 82(a)
    		 1 ↔ 1
    		 6(22279147-22298691)
    zebrafish
    (Danio rerio)    		 Actinopterygii Dr.27202 Transcribed sequence with weak similarity to protein spO43556 (H.sapiens) SGCE_HUMAN Epsilon-sarcoglycan precursor (Epsilon-SG) less 74.21(n)    57050708 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Scgalpha6
    		 Sarcoglycan alpha
    		 19(a)
    		 1 → many
    		 2L(8303429-8305376)


    ENSEMBL Gene Tree for SGCE (if available)
    TreeFam Gene Tree for SGCE (if available) 

    Paralogs
    for SGCE gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SGCE gene
    SGCA2  
    1 SIMAP similar gene for SGCE using alignment to 7 protein entries:     SGCE_HUMAN (see all proteins):
    SGCA

    SGCE for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SGCE
    PGOHUM00000240376


    Genomic Variants
    for SGCE gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/971 NCBI SNPs in SGCE are shown (see all 971)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 7 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs119841481,2
    		C,H--88821913(+) CATTAG/AGCTTC 3 -- ut314Minor allele frequency- A:0.00NS EA 420
    rs102258621,2
    		C,A,H--88822449(+) ACAGTC/TTGAAA 3 -- int14Minor allele frequency- T:0.00NS EA 418
    rs737206911,2
    		C,F,--88822643(+) TAACTG/ACTCTA 3 -- int13Minor allele frequency- A:0.05WA CSA 122
    rs102262061,2
    		C,H--88822703(+) CATTTC/TTTAAA 3 -- int14Minor allele frequency- T:0.00NS EA 418
    rs734254361,2
    		C,--88823063(+) CAGATG/AGAAGA 3 -- int11Minor allele frequency- A:0.50WA 2
    rs117701221,2
    		H--88823210(+) attcaA/Gagtct 3 -- int10--------
    rs117701251,2
    		H--88823230(+) gcccaA/Ggctgg 3 -- int10--------
    rs117701811,2
    		H--88823393(+) atgtcA/Gggcag 3 -- int10--------
    rs102240501,2
    		C,--88823791(+) AATAAT/CTTTAT 3 -- int12Minor allele frequency- C:0.04NA WA 120
    rs2015232781,2
    		C--88825781(+) GGCTTG/TTGCTC 3 -- int10--------

    HapMap Linkage Disequilibrium report for SGCE (94214536 - 94285521 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for SGCE
         1 CNV: 5243
    Human Gene Mutation Database (HGMD): SGCE

    Locus Specific Mutation Databases (LSDB): SGCE

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SGCE
    DNA2.0 Custom Variant and Variant Library Synthesis for SGCE

    Disorders / Diseases
    for SGCE gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SGCE for disorders           About GeneDecksing

    OMIM gene information: 604149   
    OMIM disorders: 159900  
    UniProtKB/Swiss-Prot: SGCE_HUMAN, O43556
  • Defects in SGCE are a cause of dystonia type 11 (DYT11) [MIM:159900]; also known as myoclonic dystonia or
    • alcohol-responsive dystonia. DYT11 is a myoclonic dystonia. Dystonia is defined by the presence of sustained
    involuntary muscle contractions, often leading to abnormal postures. DYT11 is characterized by involuntary lightning
    jerks and dystonic movements and postures alleviated by alcohol. Inheritance is autosomal dominant. The age of onset,
    pattern of body involvement, presence of myoclonus and response to alcohol are all variable

    20/33 diseases for SGCE (see all 33):    About MalaCards
    dystonia-11, myoclonic    myoclonus-dystonia    myoclonus    gilles de la tourette syndrome
    obsessive-compulsive disorder    limb-girdle muscular dystrophy    silver-russell syndrome    spinocerebellar ataxia type 14
    complex regional pain syndrome    benign hereditary chorea    focal dystonia    spinocerebellar ataxia
    tourette syndrome    muscular dystrophy    chorea    familial dystonia
    asperger syndrome    paine syndrome    alcohol dependence    chronic lymphocytic leukemia

    4 diseases from the University of Copenhagen DISEASES database for SGCE:
    Movement disease     Familial dystonia     Muscular dystrophy     Silver-Russell syndrome

    5 Novoseek disease relationships for SGCE gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    myoclonic dystonia 96.7 10 16227522 (2), 12325078 (2), 12634861 (1), 18581468 (1) (see all 8)
    movement disorders 83.5 15 18205193 (1), 18571946 (1), 19506430 (1), 18265016 (1) (see all 10)
    dystonia primary 78.4 4 15390016 (2), 17061184 (1)
    obsessive-compulsive disorder 50.1 1 15368614 (1)
    epilepsy 4.43 1 15389977 (1)

    GeneTests: SGCE
    Myoclonus-Dystonia

    Genetic Association Database (GAD): SGCE
    Human Genome Epidemiology (HuGE) Navigator: SGCE (8 documents)

    Export disorders for SGCE gene to outside databases

    Publications
    for SGCE gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SGCE gene, integrated from 9 sources (see all 106):
    (articles sorted by number of sources associating them with SGCE)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene. (PubMed id 9475163)1, 2, 3 McNally E.M.... Kunkel L.M. (1998)
    2. epsilon-Sarcoglycan, a broadly expressed homologue of the gene mutated in limb-girdle muscular dystrophy 2D. (PubMed id 9405466)1, 2, 3 Ettinger A.J....Sanes J.R. (1997)
    3. Lack of mutations in the epsilon-sarcoglycan gene in patients with different subtypes of primary dystonias. (PubMed id 15390016)1, 4, 9 Grundmann K....Riess O. (2004)
    4. Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations. (PubMed id 18362280)1, 2, 9 Roze E....Vidailhet M. (2008)
    5. Examination of the SGCE gene in Tourette syndrome patients with obsessive-compulsive disorder. (PubMed id 15368614)1, 4, 9 de Carvalho Aguiar P....Ozelius L.J. (2004)
    6. Myoclonus-Dystonia: clinical and genetic evaluation of a large cohort. (PubMed id 19066193)1, 2, 9 Ritz K....Tijssen M.A. (2008)
    7. The epsilon-sarcoglycan gene in myoclonic syndromes. (PubMed id 15728306)1, 4, 9 Valente E.M....Bhatia K.P. (2005)
    8. Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations. (PubMed id 12402271)1, 2, 9 Klein C....Ozelius L.J. (2002)
    9. Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. (PubMed id 11528394)1, 2, 9 Zimprich A....Gasser T. (2001)
    10. Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations. (PubMed id 18175340)1, 2, 9 Raymond D....Bressman S. (2008)

    External Searches for SGCE gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    Free Text  
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    Genome Databases showing SGCE gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8910 HGNC: 10808 AceView: SGCE Ensembl:ENSG00000127990 euGenes: HUgn8910
    ECgene: SGCE H-InvDB: SGCE

    Other Databases showing SGCE gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SGCE gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SGCE Pharmacogenomics, SNPs, Pathways
    LEIDEN Muscular Dystrophy page for SGCE Scientfic Information about Duchenne and Duchenne-like muscular dystrophies.
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SGCE

    Intellectual Property
    for SGCE gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for SGCE gene:
    Search GeneIP for patents involving SGCE

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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