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FLASH GENE
Symbol SPEG contributors: mct - updated : 28-08-2018
HGNC name SPEG complex locus
HGNC id 16901
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • transcript with an E box motif that mediates gene expression restricted to vascular smooth muscle cells
  • immunoglobulin domain C-2type
    • HOMOLOGY
    interspecies ortholog to rattus Apeg1
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    text
  • localizes in a double line, flanking desmin over the Z lines, and is apparently in alignment with the terminal cisternae of the sarcoplasmic reticulum
    • basic FUNCTION involved in differentiation of vascular smooth muscle cells
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • SPEG was identified as an MTM1-interacting protein
  • SPEG interacts with myospryn complex proteins (CMYA5, FSD2, RYR1), and its deficiency results in myospryn complex abnormalities
  • SPEG is required for stability of excitation-contraction coupling (ECC) complexes and interacts with esterase D (ESD), CMYA5, and Fibronectin Type III and FSD2 in cardiac and skeletal muscle
    • cell & other
    REGULATION
    Other regulated by the DES LCR
    ASSOCIATED DISORDERS
    corresponding disease(s) CNM5
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Speg mutant mice exhibited significant neonatal mortality, with increased death occurring by 2 days after birth