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

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

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

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 myoclonus-dystonia, and dystonia-11, myoclonic. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NT_007933.15  NC_018918.2  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     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for SGCE at MOPED 

Post-translational modifications:

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

  • SGCE Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SGCE Protein Expression
    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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    Novus Biologicals SGCE Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    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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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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 - Custom generated mouse model solutions for SGCE 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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
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    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 plasmidSGCE 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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                         Customized lentivirus expression plasmids for stable overexpression of SGCE 

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


    (Pathways according to EMD Millipore, 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 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 Oct 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



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 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)

    Search CenterWatch for drugs/clinical trials and news about SGCE

    (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,
    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, Sirion Biotech, 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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    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 plasmidSGCE 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SGCE
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    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SGCE
    Sirion Biotech Customized lentivirus for stable overexpression of SGCE 
                         Customized lentivirus expression plasmids for stable overexpression of SGCE 
    Primer
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    OriGene qPCR primer pairs and template standards for SGCE
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    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 

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

    AA447965 NM_003919 AA232128 CD723702 CD722975 AI648380 BI755437 BQ932247 
    BQ893748 BX280159 AL547670 CR591589 BX280837 AL702273 AJ000534 AI374598 
    BE220963 BM725390 CD677242 CR597920 BQ574050 BX387203 AI221799 BQ879635 

    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

    (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)      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 
     5/2 selected tissues (see all 2) fully expand
     
     Endothelium (Cardiovascular System)
             Peripheral blood endothelial colony-forming cells
     
     Eye (Sensory Organs)
             Mature Rod Bipolar Cells Inner Nuclear Layer

    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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    QIAGEN 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

    This gene was present in the common ancestor of animals.

    Orthologs for SGCE gene from 5/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sgce1 , 5 sarcoglycan, epsilon1, 5 89.66(n)1
    95.6(a)1
      6 (1.81 cM)5
    203921  NM_001130188.11  NP_001123660.11 
     46743505 
    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
    sarcoglycan, epsilon
    79(a)
    1 ↔ 1
    6(22277574-22308691)
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.27202 Transcribed sequence with weak similarity to protein more 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
    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) 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

    10/1175 SNPs in SGCE are shown (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
    SABiosciences Cancer Mutation 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
    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

  • 20/29 diseases for SGCE (see all 29):    About MalaCards
    myoclonus-dystonia    dystonia-11, myoclonic    spinocerebellar ataxia type 14    complex regional pain syndrome
    myoclonus    benign hereditary chorea    paine syndrome    asperger syndrome
    focal dystonia    obsessive-compulsive disorder    chorea    familial dystonia
    gilles de la tourette syndrome    silver-russell syndrome    limb-girdle muscular dystrophy    tremor
    spinocerebellar ataxia    alcohol dependence    b-cell chronic lymphocytic leukemia    ataxia

    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

    PubMed articles for SGCE gene, integrated from 9 sources (see all 110) (see top 10):
    (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. (2008)
    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. (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. (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. (2004)
    5. Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations. (PubMed id 18362280)1, 2, 9 Roze E....Vidailhet M. (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. (2004)
    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)
    11. Screening for dystonia genes DYT1, 11 and 16 in patie nts with writer's cramp. (PubMed id 19441135)1, 4 Ritz K....Tijssen M.A. (2009)
    12. Clinical and molecular genetic evaluation of patients with primary dystonia. (PubMed id 15679701)1, 4 Shang H....Burgunder J.M. (2005)
    13. Identification and characterization of epsilon-sarcoglycans in the central nervous system. (PubMed id 15193417)1, 2 Nishiyama A.... Imamura M. (2004)
    14. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)
    15. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
    16. Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes. (PubMed id 16227522)2, 9 Tezenas du Montcel S....Brice A. (2006)
    17. Myoclonus-dystonia: significance of large SGCE deletions. (PubMed id 18205193)1, 9 Grunewald A....Klein C. (2008)
    18. Myoclonus-dystonia due to maternal uniparental disomy. (PubMed id 18852357)1, 9 Guettard E....Roze E. (2008)
    19. Large deletions account for an increasing number of mutations in SGCE. (PubMed id 18098280)1, 9 Han F....Bulman D.E. (2008)
    20. Autosomal dominant myoclonus-dystonia and Tourette syndrome in a family without linkage to the SGCE gene. (PubMed id 17702041)1, 9 Orth M....Munchau A. (2007)
    21. Genetic heterogeneity in ten families with myoclonus-dystonia. (PubMed id 15258227)2, 9 Schule B....Kostic V. (2004)
    22. 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. (PubMed id 18651096)1, 9 Bonnet C....Jonveaux P. (2008)
    23. SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA. (PubMed id 17200151)1, 9 Esapa C.T....Blake D.J. (2007)
    24. Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia. (PubMed id 17702043)1, 9 Asmus F....Chinnery P.F. (2007)
    25. The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted. (PubMed id 12634861)1, 9 Grabowski M....Strom T.M. (2003)
    26. Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia. (PubMed id 12444570)1, 9 Muller B....Klein C. (2002)
    27. MMP-7 and SGCE as distinctive molecular factors in sp oradic colorectal cancers from the mutator phenotype pathway. (PubMed id 20372795)1, 9 Ortega P....Benito M. (2010)
    28. Myoclonus in fraternal twin toddlers: a French family with a novel mutation in the SGCE gene. (PubMed id 19147379)1, 9 ThA1mmler S....Perelman S. (2009)
    29. A novel mutation of the epsilon-sarcoglycan gene in a Chinese family with myoclonus-dystonia syndrome. (PubMed id 18581468)1, 9 Chen X.P....Shang H.F. (2008)
    30. Temporal regulation of the expression of syncytin (HERV-W), maternally imprinted PEG10, and SGCE in human placenta. (PubMed id 12620933)1, 9 Smallwood A.... Banerjee S. (2003)
    31. Clinical and neurophysiological improvement of SGCE m yoclonus-dystonia with GPi deep brain stimulation. (PubMed id 19896264)1, 9 Kurtis M.M....Saunders-Pullman R. (2010)
    32. Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype. (PubMed id 12325078)1, 9 Asmus F....Gasser T. (2002)
    33. No muscle involvement in myoclonus-dystonia caused by epsilon-sarcoglycan gene mutations. (PubMed id 18355305)1, 9 Hjermind L.E....Nielsen J.E. (2008)
    34. Novel and de novo mutations of the SGCE gene in Brazilian patients with myoclonus-dystonia. (PubMed id 17394244)1, 9 Borges V....Ozelius L.J. (2007)
    35. Genomic deletion size at the epsilon-sarcoglycan locus determines the clinical phenotype. (PubMed id 17898012)1, 9 Asmus F....Gasser T. (2007)
    36. Phenotype-genotype correlation in Dutch patients with myoclonus-dystonia. (PubMed id 16534121)1, 9 Gerrits M.C....Tijssen M.A. (2006)
    37. Myoclonus-dystonia: detection of novel, recurrent, and de novo SGCE mutations. (PubMed id 15079037)2, 9 Hedrich K....Klein C. (2004)
    38. Clinical and genetic features of myoclonus-dystonia in 3 cases: a video presentation. (PubMed id 14978685)1, 9 Kock N....Klein C. (2004)
    39. Severe myoclonus-dystonia syndrome associated with a novel epsilon-sarcoglycan gene truncating mutation. (PubMed id 12707948)1, 9 Marechal L....Hannequin D. (2003)
    40. Hereditary myoclonus-dystonia associated with epilepsy. (PubMed id 12821748)1, 9 Foncke E.M....Tijssen M.A. (2003)
    41. SGCE mutations cause psychiatric disorders: clinical a nd genetic characterization. (PubMed id 23365103)1 Peall K.J....Morris H.R. (2013)
    42. Metabolic changes in DYT11 myoclonus-dystonia. (PubMed id 23284065)1 Carbon M....Eidelberg D. (2013)
    43. A novel SGCE gene mutation causing myoclonus dystonia in a family with an unusual phenotype. (PubMed id 22026499)1 Tedroff K....Norling A. (2012)
    44. Cognition and psychopathology in myoclonus-dystonia. (PubMed id 22626943)1 van Tricht M.J....Tijssen M.A. (2012)
    45. Functional magnetic resonance imaging evidence of inc omplete maternal imprinting in myoclonus-dystonia. (PubMed id 21320983)1 Beukers R.J....Tijssen M.A. (2011)
    46. Severity of dystonia is correlated with putaminal gray matter changes in myoclonus-dystonia. (PubMed id 21219543)1 Beukers R.J....Tijssen M.A. (2011)
    47. Toward an understanding of the protein interaction net work of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (2011)
    48. Digital karyotyping reveals probable target genes at 7q21.3 locus in hepatocellular carcinoma. (PubMed id 21767414)1 Dong H....Jin W. (2011)
    49. Identification of the human testis protein phosphatase 1 interactome. (PubMed id 21382349)1 Fardilha M....Silva E.F. (2011)
    50. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    51. Bilateral deep brain stimulation of the pallidum for myoclonus-dystonia due to I/-sarcoglycan mutations: a pilot study. (PubMed id 21220679)1 Azoulay-Zyss J....Grabli D. (2011)
    52. Psychiatric disorders, myoclonus dystonia, and the eps ilon-sarcoglycan gene: a systematic review. (PubMed id 21713999)1 Peall K.J....Morris H.R. (2011)
    53. Familial 7q21.3 microdeletion involving epsilon-sarco glycan causing myoclonus dystonia, cognitive impairment, and psychosis. (PubMed id 21425342)1 Dale R.C....Peters G.B. (2011)
    54. SGCE isoform characterization and expression in human brain: implications for myoclonus-dystonia pathogenesis? (PubMed id 21157498)1 Ritz K....Baas F. (2011)
    55. A gain-of-glycosylation mutation associated with myoclonus-dystonia syndrome affects trafficking and processing of mouse epsilon- sarcoglycan in the late secretory pathway. (PubMed id 21796726)2 Waite A.... Blake D.J. (2011)
    56. Impaired saccadic adaptation in DYT11 dystonia. (PubMed id 21386109)1 Hubsch C....Roze E. (2011)
    57. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    58. Large SGCE deletion contributes to Taiwanese myoclonu s-dystonia syndrome. (PubMed id 20800530)1 Huang C.L....Wu-Chou Y.H. (2010)
    59. Confirmed rare copy number variants implicate novel g enes in schizophrenia. (PubMed id 20298200)1 Tam G.W....Grant S.G. (2010)
    60. 'Jerky' dystonia in children: spectrum of p henotypes and genetic testing. (PubMed id 19117362)1 Asmus F....King M.D. (2009)
    61. Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. (PubMed id 19159218)2 Chen R.... Zou H. (2009)
    62. Screening of the epsilon sarcoglycan gene in Tourette syndrome and obsessive compulsive disorder. (PubMed id 18349702)1 Katerberg H....Baas F. (2008)
    63. Ethanol increases fetal human neurosphere size and alters adhesion molecule gene expression. (PubMed id 18162078)1 Vangipuram S.D....Lyman W.D. (2008)
    64. Expression of the dystrophin-glycoprotein complex is a marker for human airway smooth muscle phenotype maturation. (PubMed id 17993586)1 Sharma P....Halayko A.J. (2008)
    65. Unusual familial presentation of epsilon-sarcoglycan gene mutation with falls and writer's cramp. (PubMed id 18702114)1 Koukouni V....Quinn N.P. (2008)
    66. Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers. (PubMed id 17296918)1 Hess C.W....Saunders-Pullman R. (2007)
    67. Myoclonus-dystonia syndrome with severe depression is caused by an exon-skipping mutation in the epsilon-sarcoglycan gene. (PubMed id 17230465)1 Misbahuddin A....Warner T.T. (2007)
    68. Novel SGCE gene mutation in a Korean patient with myoclonus-dystonia with unique phenotype mimicking Moya-Moya disease. (PubMed id 17394247)1 Chung E.J....Kim I.S. (2007)
    69. Epsilon-sarcoglycan is not involved in sporadic Gilles de la Tourette syndrome. (PubMed id 15627203)1 Asmus F....Gasser T. (2005)
    70. A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)1 Stelzl U.... Wanker E.E. (2005)
    71. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    72. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    73. Defective assembly of sarcoglycan complex in patients with beta-sarcoglycan gene mutations. Study of aneural and innervated cultured myotubes. (PubMed id 12060343)1 Fanin M. and Angelini C. (2002)
    74. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    75. Expression of gamma -sarcoglycan in smooth muscle and its interaction with the smooth muscle sarcoglycan-sarcospan complex. (PubMed id 10993904)1 Barresi R....Campbell K.P. (2000)
    76. Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31. (PubMed id 10554001)1 Nygaard T.G....Bressman S.B. (1999)
    77. Myoclonus-Dystonia (PubMed id 20301587)1 Raymond D. and Ozelius L. (1993)
    78. (PubMed id 17853490)2 
    79. Cloning, developmental regulation and neural localization of rat epsilon-sarcoglycan. (PubMed id 14625080)9 Xiao J. and LeDoux M.S. (2003)
    80. Zac1 (Lot1), a potential tumor suppressor gene, and the gene for epsilon-sarcoglycan are maternally imprinted genes: identification by a subtractive screen of novel uniparental fibroblast lines. (PubMed id 10757814)9 Piras G....Stewart C.L. (2000)
    81. Exclusive paternal expression and novel alternatively spliced variants of epsilon-sarcoglycan mRNA in mouse brain. (PubMed id 16099459)9 Yokoi F....Li Y. (2005)
    82. Is psychopathology part of the phenotypic spectrum of myoclonus-dystonia?: a study of a large Dutch M-D family. (PubMed id 19506430)9 Foncke E.M....Tijssen M. (2009)
    83. Myoclonus in a patient with a deletion of the epsilon-sarcoglycan locus on chromosome 7q21. (PubMed id 12900898)9 DeBerardinis R.J....Emanuel B.S. (2003)
    84. Pediatric writer's cramp in myoclonus-dystonia: maternal imprinting hides positive family history. (PubMed id 18571946)9 Gerrits M.C....Tijssen M.A. (2009)
    85. Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene. (PubMed id 16240355)9 Asmus F....Gasser T. (2005)
    86. Disorganized sensorimotor integration in mutation-pos itive myoclonus-dystonia: a functional magnetic resonance imaging study. (PubMed id 20385914)9 Beukers R.J....Tijssen M.A. (2010)
    87. Myoclonus dystonia plus syndrome due to a novel 7q21 microdeletion. (PubMed id 20425829)9 Saugier-Veber P....Roze E. (2010)
    88. Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity. (PubMed id 14502674)9 Valente E.M....Warner T.T. (2003)
    89. Epigenetic inactivation of the placentally imprinted tumor suppressor gene TFPI2 in prostate carcinoma. (PubMed id 20335518)9 Ribarska T....Schulz W.A. (2010)
    90. Cortical excitability in DYT-11 positive myoclonus dystonia. (PubMed id 18265016)9  ....Trocello J.M. (2008)
    91. Inherited myoclonus-dystonia and epilepsy: further evidence of an association? (PubMed id 15389977)9 O'Riordan S....Lynch T. (2004)
    92. Mutations in the epsilon-sarcoglycan gene found to be uncommon in seven myoclonus-dystonia families. (PubMed id 12874409)9 Han F....Grimes D.A. (2003)
    93. Phenotypic features of myoclonus-dystonia in three kindreds. (PubMed id 12391346)9 Doheny D.O....Silverman J.M. (2002)
    94. Myoclonus-dystonia and spinocerebellar ataxia type 14 presenting with similar phenotypes: trunk tremor, myoclonus, and dystonia. (PubMed id 19913450)9 Foncke E.M....Tijssen M.A. (2010)
    95. Systematic mutation analysis of seven dystonia genes in complex regional pain syndrome with fixed dystonia. (PubMed id 20066431)9 Gosso M.F....van den Maagdenberg A.M. (2010)
    96. Enhanced human bone marrow stromal cell affinity for modified poly(L-lactide) surfaces by the upregulation of adhesion molecular gen es. (PubMed id 19796804)9 Mao X....Xiao Y. (2009)
    97. Gene expression profile analysis of human hepatocellular carcinoma using SAGE and LongSAGE. (PubMed id 19171046)9 Dong H....Jin W. (2009)
    98. Clinical and genetic characterization of a large Dutch family with primary focal dystonia. (PubMed id 18823044)9 Contarino M.F....Tijssen M.A. (2008)
    99. Comparative analysis of human chromosome 7q21 and mouse proximal chromosome 6 reveals a placental-specific imprinted gene, TFPI2/Tfpi2, which requires EHMT2 and EED for allelic-silencing. (PubMed id 18480470)9 Monk D....Moore G.E. (2008)
    100. A neurophysiological study of myoclonus in patients with DYT11 myoclonus-dystonia syndrome. (PubMed id 18759336)9 Marelli C....Franceschetti S. (2008)
    101. SERT Ileu425Val in autism, Asperger syndrome and obsessive-compulsive disorder. (PubMed id 18197083)9 Wendland J.R....Murphy D.L. (2008)
    102. Overexpression of the paternally expressed gene 10 (PEG10) from the imprinted locus on chromosome 7q21 in high-risk B-cell chronic lymphocytic leukemia. (PubMed id 17621626)9 Kainz B.... Jaeger U. (2007)
    103. Expression and function of utrophin associated protein complex in stretched endothelial cells: dissociation and activation of eNOS. (PubMed id 17127434)9 Ramirez-Sanchez I....Coral-Vazquez R.M. (2007)
    104. [The study and treatment of dystonias in childhood] (PubMed id 17061184)9 Pascual-Pascual S.I. (2006)
    105. Myoclonus, motor deficits, alterations in emotional responses and monoamine metabolism in epsilon-sarcoglycan deficient mice. (PubMed id 16815860)9 Yokoi F....Li Y. (2006)
    106. A systematic review on the diagnosis and treatment of primary (idiopathic) dystonia and dystonia plus syndromes: report of an EFNS/MDS-ES Task Force. (PubMed id 16722965)9 Albanese A....Valls-Sole J. (2006)

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    (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

    (According to HUGE)
    About This Section
      --

    (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

    (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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
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