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FLASH GENE
Symbol SGCE contributors: mct - updated : 23-05-2011
HGNC name sarcoglycan, epsilon
HGNC id 10808
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