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FLASH GENE
Symbol SGCD contributors: npt/ - updated : 13-07-2006
HGNC name sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
HGNC id 10807
DNA
TYPE functioning gene
STRUCTURE 441.03 kb     8 Exon(s)
10 Kb 5' upstream gene genomic sequence study
motif Viral sequence   long terminal repeat
text structure specific HERV-K LTR within intron 5
MAPPING cloned Y linked N status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
- - 9805 - 290 - Passeos-Bueno
- - 1576 - 256 - Passeos-Bueno
- - 9759 32 289 - -
EXPRESSION
Type widely
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Endocrineneuroendocrinepituitary  highly
Nervousbrain    
Respiratorylung    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectiveadipose  highly
Connectivebone   
Connectivecartilage   
Muscularsmooth   
Muscularstriatumcardiac  
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal, pregnancy
Text heart, uterus
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • small intracellular domain
  • a single transmembrane hydrophobic domain
  • large extracellular C terminus with four cysteine residues
  • conjugated GlycoP
    HOMOLOGY
    interspecies homolog to murine Sgcd
    Homologene
    FAMILY
  • sarcoglycan beta/delta/gamma family
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane
    text sarcolemmal type 2 membrane protein
    basic FUNCTION
  • forming a link between the f-actin cytoskeleton and the extracellular 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
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • dystrophin binding
  • utrophin DP116, SGCE and SGCB in the Schwann cell membrane
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) LGMD2F
    related resource Limb-Girdle Muscular Dystrophy, Type 2F
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS