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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
Physical map
OCIA 4q11 2-aminoadipic 6-semialdehyde dehydrogenase MGC45416 4p12 hypothetical protein MGC45416 FLJ21511 4p12 hypothetical protein FLJ21511 LOC391649 4 similar to SNAG1 LOC391650 4 similar to SNAG1 LOC391651 4 similar to SNAG1 LOC391652 4 similar to SNAG1 KIAA0276 4q12 similar to SNAG1 LOC339977 4q12 similar to Hypothetical protein MGC38937 SGCB 4q12 sarcoglycan, beta (43kDa dystrophin-associated glycoprotein) LOC132671 4q12 LOC132671 USP46 4q12 ubiquitin specific protease 46 KIAA0114 4q12 KIAA0114 gene product FLJ12684 4q12 hypothetical protein FLJ12684 MGC2827 4q12 hypothetical protein MGC2827 STXBP1L1 FIP1L1 4q11-q12 FIP1 like 1 (S. cerevisiae) LNX 4q12 ligand of numb-protein X LOC391653 4 hypothetical gene supported by BC057822 CHIC2 4q11-q12 cysteine-rich hydrophobic domain 2 GSH-2 4q11-q12 homeobox protein GSH-2 PDGFRA 4q11-q12 platelet-derived growth factor receptor, alpha polypeptide LOC254938 4q12 hypothetical LOC254938 KIT 4q12 v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog KDR 4q12 kinase insert domain receptor (a type III receptor tyrosine kinase) FLJ13352 4q12 hypothetical protein FLJ13352 TPARL 4q12 TPA regulated locus CLOCK 4q12 clock homolog (mouse) GCPHLP 4q12 likely ortholog of mouse germ cell-specific phosphoducin-like protein Mgcphlp NMU 4q12 neuromedin U SEC3 FLJ13621 4q12 hypothetical protein FLJ13621 KIAA0635 4q12-q13.3 hypothetical protein FLJ13621 KIAA1211 4q12 KIAA1211 protein
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