Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



SGCE Gene

protein-coding   GIFtS: 61
GCID: GC07M094214

Sarcoglycan, Epsilon


(Previous symbol: DYT11)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Sarcoglycan, Epsilon1 2     epsilon-SG2
DYT111 2 5     epsilon-sarcoglycan2
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


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

Entrez Gene summary for SGCE Gene:
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)

GeneCards Summary for SGCE Gene:
SGCE (sarcoglycan, epsilon) is a protein-coding gene. Diseases associated with SGCE include dystonia-11, myoclonic, and spinocerebellar ataxia type 14. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is SGCA.

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 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000007.14  NT_007933.16  NC_018918.2  
Regulatory elements:
   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 Chromatin IP Primers for SGCE

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: SGCE_HUMAN, O43556 (See protein sequence)
Recommended Name: Epsilon-sarcoglycan  
Size: 437 amino acids; 49851 Da
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

Explore proteomics data for SGCE at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn200
  • Modification sites at PhosphoSitePlus

  • See SGCE Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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  

    SGCE Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for SGCE
    OriGene Custom MassSpec
    OriGene Custom Protein Services for SGCE
    GenScript Custom Purified and Recombinant Proteins Services for SGCE
    Novus Biologicals SGCE Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    SGCE Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for SGCE
    Novus Biologicals SGCE Antibodies
    Abcam antibodies for SGCE
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibodies for SGCE
    LSBio Antibodies in human, mouse, rat for SGCE

    SGCE Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for SGCE
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SGCE
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    2 InterPro protein domains:
     IPR006644 Cadg
     IPR008908 Sarcoglycan_2

    Graphical View of Domain Structure for InterPro Entry O43556

    ProtoNet protein and cluster: O43556

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


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


    SGCE for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
         
    SGCE for ontologies           About GeneDecksing


    Phenotypes:
         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

    Animal Models:
         MGI mouse knock-out Sgcetm1Ygl for SGCE

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SGCE
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SGCE

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SGCE
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SGCE

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat SGCE using miScript Target Protectors
    Selected qRT-PCR 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 plasmidSGCE 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SGCE
    Predesigned siRNA for gene silencing in human, mouse, rat SGCE

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SGCE

    Clone
    Products:
         
    OriGene clones in human, mouse for SGCE (see all 17)
    OriGene ORF clones in mouse, rat for SGCE
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): SGCE (NM_003919)
    Sino Biological Human cDNA Clone for SGCE
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SGCE
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SGCE

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for SGCE
    Browse ESI BIO Cell Lines and PureStem Progenitors for SGCE 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SGCE


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    SGCE_HUMAN, O43556: Cell membrane, sarcolemma; Single-pass membrane protein (Potential). Cytoplasm, cytoskeleton
    (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytoskeleton2
    cytosol1
    endoplasmic reticulum1
    extracellular1
    golgi apparatus1
    lysosome1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

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

    SGCE for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus




        Pathway & Disease-focused RT2 Profiler PCR Array including SGCE: 
              Extracellular Matrix & Adhesion Molecules in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for SGCE

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

    Selected 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
    PGM5ENSP000003796784STRING: ENSP00000379678
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

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

    SGCE for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

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

    Browse Tocris compounds for SGCE

    1 Novoseek inferred 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)



    SGCE for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus

    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
    Products:
         
    Block miRNA regulation of human, mouse, rat SGCE using miScript Target Protectors
    Selected qRT-PCR 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 plasmidSGCE 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for SGCE
    Predesigned siRNA for gene silencing in human, mouse, rat SGCE
    Clone
    Products:
         
    OriGene clones in human, mouse for SGCE (see all 17)
    OriGene ORF clones in mouse, rat for SGCE
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): SGCE (NM_003919)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SGCE
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SGCE
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for SGCE
    OriGene qSTAR qPCR primer pairs in human, mouse for SGCE
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SGCE
      QuantiTect SYBR Green Assays in human, mouse, rat SGCE
      QuantiFast Probe-based Assays in human, mouse, rat SGCE

    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 157):

    AF031920 BQ574050 BX387203 BQ879635 AI692544 AA424550 BQ717921 AA424641 
    BG055475 AA232758 CR606329 BM128390 Z45071 BM981628 BX393441 AI344582 
    AB117974 BM083297 CR596310 AY359042 AA447965 CD723702 NM_003919 CA388947 

    GeneLoc Exon Structure

    Selected 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

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    SGCE expression in normal human tissues (normalized intensities)      SGCE embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGGCAGTAT
    SGCE Expression
    About this image


    SGCE expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Neurons
             Mature Rod Bipolar Cells Inner Nuclear Layer
     
     Blood (Hematopoietic System)
             Mature B-Cells Peripheral Blood
     
     Eye (Sensory Organs)
             Mature Rod Bipolar Cells Inner Nuclear Layer
    SGCE Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SGCE Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.371199

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

        Pathway & Disease-focused RT2 Profiler PCR Array including SGCE: 
              Extracellular Matrix & Adhesion Molecules in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for SGCE
    OriGene qSTAR qPCR primer pairs in human, mouse for SGCE
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SGCE
    QuantiTect SYBR Green Assays in human, mouse, rat SGCE
    QuantiFast Probe-based Assays in human, mouse, rat SGCE
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SGCE

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for SGCE gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sgce1 , 5 sarcoglycan, epsilon1, 5 89.18(n)1
    95.16(a)1
      6 (1.81 cM)5
    203921  NM_001130188.11  NP_001123660.11 
     46743505 
    chicken
    (Gallus gallus)
    Aves SGCE1 sarcoglycan, epsilon 85.22(n)
    95.18(a)
      420567  XM_004939301.1  XP_004939358.1 
    lizard
    (Anolis carolinensis)
    Reptilia SGCE6
    sarcoglycan, epsilon
    79(a)
    1 ↔ 1
    6(22277574-22308691)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia sgce1 sarcoglycan, epsilon 75.7(n)
    85.33(a)
      100496492  XM_002940635.2  XP_002940681.2 
    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
    20(a)
    1 → many
    2L(8303429-8305376)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    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


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for SGCE (see all 1175)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0667344
    Dystonia 11 (DYT11)4--see VAR_0667342 H R mis40--------
    VAR_0667404
    Dystonia 11 (DYT11)4--see VAR_0667402 S C mis40--------
    VAR_0667334
    Dystonia 11 (DYT11)4--see VAR_0667332 H P mis40--------
    VAR_0667434
    Dystonia 11 (DYT11)4--see VAR_0667432 C Y mis40--------
    VAR_0667394
    Dystonia 11 (DYT11)4--see VAR_0667392 L S mis40--------
    VAR_0667424
    Dystonia 11 (DYT11)4--see VAR_0667422 W R mis40--------
    VAR_0667384
    Dystonia 11 (DYT11)4--see VAR_0667382 Y C mis40--------
    VAR_0667414
    Dystonia 11 (DYT11)4--see VAR_0667412 L P mis40--------
    VAR_0667364
    Dystonia 11 (DYT11)4--see VAR_0667362 W G mis40--------
    VAR_0267504
    Dystonia 11 (DYT11)4--see VAR_0267502 L R mis40--------

    HapMap Linkage Disequilibrium report for SGCE (94214536 - 94285521 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for SGCE:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2422248CNV Duplication17116639

    Human Gene Mutation Database (HGMD): SGCE
    Locus Specific Mutation Databases (LSDB): SGCE

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SGCE
    DNA2.0 Custom Variant and Variant Library Synthesis for SGCE

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

    TryGeneCards Plus
    OMIM gene information: 604149   
    OMIM disorders: 159900  
    UniProtKB/Swiss-Prot: SGCE_HUMAN, O43556
  • Dystonia 11 (DYT11) [MIM:159900]: 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.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for SGCE (see all 30):    About MalaCards
    dystonia-11, myoclonic    spinocerebellar ataxia type 14    myoclonus-dystonia    benign hereditary chorea
    myoclonus    asperger syndrome    focal dystonia    complex regional pain syndrome
    familial dystonia    chorea    obsessive-compulsive disorder    gilles de la tourette syndrome
    silver-russell syndrome    paine syndrome    limb-girdle muscular dystrophy    tremor
    spinocerebellar ataxia    b-cell chronic lymphocytic leukemia    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

    SGCE for disorders           About GeneDecksing

    5 Novoseek inferred 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
    GeneReviews: SGCE
    Genetic Association Database (GAD): SGCE
    Human Genome Epidemiology (HuGE) Navigator: SGCE (8 documents)

    Export disorders for SGCE gene to outside databases

    (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

    TryGeneCards Plus

    PubMed articles for SGCE gene, integrated from 10 sources (see all 112):
    (articles sorted by number of sources associating them with SGCE)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Myoclonus-dystonia: clinical and genetic evaluation of a large cohort. (PubMed id 19066193)1, 2, 4, 9 Ritz K.... Tijssen M.A. (J. Neurol. Neurosurg. Psych. 2009)
    2. 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. (FEBS Lett. 1998)
    3. 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. (J. Biol. Chem. 1997)
    4. 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. (Mov. Disord. 2004)
    5. Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations. (PubMed id 18362280)1, 2, 9 Roze E.... Vidailhet M. (Neurology 2008)
    6. 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. (Mov. Disord. 2004)
    7. The epsilon-sarcoglycan gene in myoclonic syndromes. (PubMed id 15728306)1, 4, 9 Valente E.M....Bhatia K.P. (Neurology 2005)
    8. Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations. (PubMed id 12402271)1, 2, 9 Klein C....Ozelius L.J. (Ann. Neurol. 2002)
    9. Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus- dystonia syndrome. (PubMed id 11528394)1, 2, 9 Zimprich A.... Gasser T. (Nat. Genet. 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. (Mov. Disord. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 8910 HGNC: 10808 AceView: SGCE Ensembl:ENSG00000127990 euGenes: HUgn8910
    ECgene: SGCE H-InvDB: SGCE

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    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/books/NBK1116/?term=SGCE[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for SGCE  
     OriGene qPCR primer pairs and template standards for SGCE   OriGene Protein Over-expression Lysate for SGCE  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for SGCE  
     OriGene qSTAR qPCR primer pairs in human, mouse for SGCE   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for SGCE   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for SGCE   OriGene Custom Protein Services for SGCE  

     
     
     Block miRNA regulation of human, mouse, rat SGCE using miScript Target Protectors SeqTarget long-range PCR primers for resequencing SGCE
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SGCE Predesigned siRNA for gene silencing in human, mouse, rat SGCE
     QuantiFast Probe-based Assays in human, mouse, rat SGCE QuantiTect SYBR Green Assays in human, mouse, rat SGCE
     PCR Arrays including human, mouse, rat SGCE Search Chromatin IP Primers for SGCE
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SGCE  Search GeneGlobe Interaction Network for SGCE
     Regulatory tfbs in SGCE promoter
     GenScript Custom Purified and Recombinant Proteins Services for SGCE GenScript cDNA clones with any tag delivered in your preferred vector for SGCE
     GenScript Custom Assay Services for SGCE GenScript Custom overexpressing Cell Line Services for SGCE
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for SGCE
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for SGCE
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     SGCE antibodies
     SGCE lysates
     Antibodies for SGCE
     See all of Abcam's Antibodies, Kits and Proteins for SGCE
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Browse Proteins at Cloud-Clone Corp.
     Browse Antibodies at Cloud-Clone Corp.
     Browse ELISAs at Cloud-Clone Corp.
     Browse CLIAs at Cloud-Clone Corp.



     Browse ESI BIO Cell Lines and PureStem Progenitors for SGCE
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SGCE
     SwitchGear 3'UTR luciferase reporter plasmids for SGCE
     SwitchGear Promoter luciferase reporter plasmids for SGCE
     ThermoFisher Antibodies for SGCE
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SGCE
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SGCE
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SGCE
     LSBio Antibodies in human, mouse, rat for SGCE
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      SGCE gene at Home site.
    Version: 3.12.136 22 July 2014
    hostname: 356977-web1.xennexinc.com index build: 126 solr: 1.4