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FLASH GENE
Symbol SGCB contributors: npt/ - updated : 30-04-2007
HGNC name sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
HGNC id 10806
Corresponding disease
LGMD2E limb girdle muscular dystrophy 2E
Location 4q12      Physical location : 52.886.860 - 52.904.485
Synonym name 43 kDa dystrophin-associated glycoprotein
Synonym symbol(s) DAPA3B, SGC, A3B, 43DAG, Beta-SG
DNA
TYPE functioning gene
STRUCTURE 17.57 kb     6 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
6 - 4295 34.6 318 - Lim (1995)
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Endocrinepancreas   lowly
Nervousbrain   lowly
Respiratorylung   lowly
Urinarykidney   lowly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsecretoryglandularendocrine 
Muscularstriatumcardiac  
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal, pregnancy
Text placenta, brain, lung, kidney, liver
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
conjugated GlycoP
HOMOLOGY
interspecies homolog to murine Sgcb
Homologene
FAMILY
  • sarcoglycan beta/delta/gamma/zeta family
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane
    text sarcolemma (type 2 membrane protein)
    basic FUNCTION
  • component of the sarcoglycan complex 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 in a stoichiometrically equal complex
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • dystrophin binding
  • utrophin, DP116, SGCE and SGCD in the Schwann cell membrane
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) LGMD2E
    related resource Limb-Girdle Muscular Dystrophy, Type 2E
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS