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FLASH GENE
Symbol SGCA contributors: mct/npt - updated : 14-06-2008
HGNC name sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
HGNC id 10805
Corresponding disease
LGMD2D limb girdle muscular dystrophy 2D
Location 17q21      Physical location : 48.243.365 - 48.253.292
Synonym name
  • adhalin
  • adhalin (limb girdle muscular dystrophy 2D)
  • 50 kDa dystrophin-associated glycoprotein
  • Synonym symbol(s) ADL, DAG50, DAPA2, A2, DAG2, DMDA2, 50-DAG, SCARMD1, LGMD2D
    DNA
    TYPE functioning gene
    STRUCTURE 9.00 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    PHB 17q21.3 prohibitin LOC388400 17 similar to Eukaryotic translation initiation factor 4E (eIF4E) (eIF-4E) (mRNA cap-binding protein) (eIF-4F 25 kDa subunit) NGFR 17q21.31 nerve growth factor receptor (TNFR superfamily, member 16) NXPH3 17q21.31 neurexophilin 3 SPOP 17q22 speckle-type POZ protein SLC35B1 17q21.3-q22 solute carrier family 35, member B1 LOC81558 17q21.33 C/EBP-induced protein MYST2 17q21.32 MYST histone acetyltransferase 2 TAC4 17 tachykinin 4 (hemokinin) LOC124865 17q21.33 similar to ribosomal protein P0-like protein; 60S acidic ribosomal protein PO; ribosomal protein, large, P0-like DLX4 17q21-q22 distal-less homeobox 4 DLX3 17q21.3-q22 distal-less homeo box 3 ITGA3 17q22-q23 integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) PDK2 17q21.3 pyruvate dehydrogenase kinase, isoenzyme 2 LOC201191 17q21.33 hypothetical protein LOC201191 PPP1R9B 17q21-q22 protein phosphatase 1, regulatory subunit 9B, spinophilin SGCA 17q21 sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) HILS1 17q21.33 spermatid-specific linker histone H1-like protein COL1A1 17q21.31-q22.15 collagen, type I, alpha 1 FLJ33318 17q21.33 hypothetical protein FLJ33318 XYLT2 17q21.3-17q22 xylosyltransferase II MRPL27 17q21.3-q22 mitochondrial ribosomal protein L27 FLJ31364 PRO1855 17q21.33 hypothetical protein PRO1855 FLJ20920 17q21.33 hypothetical protein FLJ20920 MRPS21P9 17q21 mitochondrial ribosomal protein S21 pseudogene 9 CHAD 17q21.33 chondroadherin FLJ11164 17q21.33 hypothetical protein FLJ11164 DKFZp434N1415 17q21.33 Mycbp-associated protein EPN3 17q24.1 epsin 3 FLJ21347 17q21.33 hypothetical protein FLJ21347 LOC253962 17q21.33 hypothetical protein LOC253962 CACNA1G 17q22 calcium channel, voltage-dependent, alpha 1G subunit ABCC3 17q21.3 ATP-binding cassette, sub-family C (CFTR/MRP), member 3 MGC15396 17q21.33 hypothetical protein MGC15396 LUC7A 17q21 cisplatin resistance-associated overexpressed protein OA48-18 17q21.33 acid-inducible phosphoprotein FLJ20694 17q21.33 hypothetical protein FLJ20694 LOC390801 17 similar to S100 calcium-binding protein A10; S100 calcium-binding protein A10 (annexin II ligand, calpactin I, light polypeptide (p11)); annexin II ligand, calpactin I, light polypeptide WFIKKNRP 17q21.33 WFIKKN-related protein LOC390802 17 similar to ribosomal protein L5; 60S ribosomal protein L5 TOB1 17q21 transducer of ERBB2, 1 SPAG9 17q21.31 sperm associated antigen 9
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 1404 42.8 387 - Rafii (2006)
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivefemale systemovary  moderately
    Respiratoryrespiratory tractlarynx  highly
    Visualeye   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumcardiac  
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    conjugated GlycoP
    HOMOLOGY
    interspecies ortholog to murine Sgca
    Homologene
    FAMILY
  • sarcoglycan alpha/epsilon family
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton
    text
  • sarcolemma
  • type I membrane protein
  • basic FUNCTION
  • playing a role in muscle contraction
  • forming a link between the F-actin cytoskeleton and the extracellular matrix
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text muscular development
    PATHWAY
    metabolism
    signaling
    a component
  • associating with other sarcoglycans and carcospan in a stoichiometrically equal complex, stabilizing the link between dystroglycan and dystrophin/utrophin
  • two major subcomplexes : one consisting of SGCB, SGCD and SGCG and the other consisiting of SGCB and SGCD (association between SGCB and SGCG is particularly strong while SGCA is loosely associated with the other sarcoglycans)
  • INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+
  • protein
  • dystrophin
  • syntrophin SNTA1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) LGMD2D
    related resource Limb-Girdle Muscular Dystrophy, Type 2D
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS