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FLASH GENE
Symbol SGCE contributors: mct - updated : 23-05-2011
HGNC name sarcoglycan, epsilon
HGNC id 10808
Corresponding disease
DEL7Q21 chromosome 7q21 interstitial deletion
DYT11 dystonia 11, myoclonic
Location 7q21.3      Physical location : 94.214.535 - 94.285.521
Synonym name epsilon-SG
Synonym symbol(s) ESG
DNA
TYPE functioning gene
STRUCTURE 70.99 kb     12 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
LOC392070 7 similar to RIKEN cDNA 4930500J03 LOC392071 7 similar to RIKEN cDNA 2810014D17 ODAG 7q21-q22 ocular development-associated gene PEX1 7q21-q22 peroxisome biogenesis factor 1 DKFZP564O0523 7q21.3 hypothetical protein DKFZp564O0523 MGC16142 7q21.3 hypothetical protein MGC16142 LOC392072 7 similar to hypothetical protein FLJ11767 MGC40405 7q21.3 hypothetical protein MGC40405 CDK6 7q21-q22 cyclin-dependent kinase 6 FLJ20073 7q21.3 FLJ20073 protein FLJ39885 7q21.3 hypothetical protein FLJ39885 LOC253012 7q21.3 hypothetical protein LOC253012 FLJ20097 7q21.3 hypothetical protein FLJ20097 CALCR 7q21.3 calcitonin receptor LOC346588 7q21.3 similar to Protein C6orf66 (HSPC125) (My013 protein) TFPI2 7q22 tissue factor pathway inhibitor 2 GNGT1 7q21.3 guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1 GNG11 7q21.3 guanine nucleotide binding protein (G protein), gamma 11 BET1 7q21.1-q22 BET1 homolog (S. cerevisiae) COL1A2 7q21.3 collagen, type I, alpha 2 CAS1 7q21.3 O-acetyltransferase SGCE 7q21.3 sarcoglycan, epsilon PEG10 7q21 paternally expressed 10 LOC392073 7 similar to ribosomal protein S3a; 40S ribosomal protein S3a; v-fos transformation effector protein 1 LOC392074 7 similar to dJ133P16.1 (ADP-ribosylation factor 1) PPP1R9A 7q21 protein phosphatase 1, regulatory (inhibitor) subunit 9A PON1 7q21.3 paraoxonase 1 PON3 7q21.3 paraoxonase 3 PON2 7q21.3 paraoxonase 2 ASB4 7q21-q22 ankyrin repeat and SOCS box-containing 4 PDK4 7q21.3 pyruvate dehydrogenase kinase, isoenzyme 4 LOC389533 7 LOC389533 DNCI1 7q21.3 dynein, cytoplasmic, intermediate polypeptide 1 SLC25A13 7q21.3 solute carrier family 25, member 13 (citrin) HCP18 7q21.3 cytochrome c, somatic pseudogene SHFM1 LOC392075 7 similar to Ser/Thr protein kinase PAR-1Balpha
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
11 - 1709 - 437 - 2004 15193417
11 - 1717 - 451 - 2004 15193417
12 - 1784 - 462 - 2004 15193417
- - - - - notably high expression in the cerebellum, namely in the Purkinje cells and neurons of the dentate nucleus 2011 21157498
  • major brain-specific isoform is differentially expressed in the human brain
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestiveintestine   highly
    Respiratorylung   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, pregnancy
    Text broadly, in muscle and non muscle cells
    IMPRINTING maternally
    text maternally imprinted (paternally expressed)
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a transmembrane domain
  • one signal sequence
  • a large extracellular domain containing four conserved cysteine residues
  • a short cytoplasmic domain
  • potential glycosylation site
  • conjugated GlycoP
    HOMOLOGY
    intraspecies homolog to alpha sarcoglycan,highly
    Homologene
    FAMILY
  • sarcoglycan alpha/epsilon family
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton
    text sarcolemma, type 2 membrane protein
    basic FUNCTION
  • forming a link between actin cytoskeleton and the extra-cellular matrix
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • associating with other sarcoglycans and sarcospan in a stoichiometrically equal complex,stabilizing the link between dystroglycan and dystrophin/utrophin, complexed with beta delta sarcoglycan
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • utrophin, DP116, SGCB, SGCD in the Schwann cell membrane
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DYT11 , DEL7Q21
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   LOI    
    maternal chromosome 7 disomy- can cause myoclonus-dystonia
    Susceptibility to obsessive-compulsive disorder, and alcohol dependence
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS