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FLASH GENE
Symbol MIA2 contributors: mct - updated : 05-12-2018
HGNC name melanoma inhibitory activity 2
HGNC id 18432
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a N-terminal signal sequence
  • a SH3 domain
  • two coiled-coil motifs and a proline-rich domain
    • conjugated GlycoP
    HOMOLOGY
    interspecies ortholog to murine Mia2
    Homologene
    FAMILY
  • MIA/OTOR family
  • melanoma inhibitory activity (MIA) gene family
    • CATEGORY regulatory , secretory
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text
  • secreted
  • specifically localizes to the endoplasmic reticulum (ER) exit sites
    • basic FUNCTION
  • may play a role in pathophysiology of liver diseases and may serve as a marker of liver damage
  • MIA2 and MIA3 have a tumour-suppressive function in several malignancies
  • plays a critical role in lipid transportation through the coordinated regulation of the COPII machinery
  • may coordinate with SEC22B to control the release of COPII vesicles from the ER, and thereby the ER-to-Golgi trafficking of proinsulin
  • plays a critical role in the secretion of proteins
  • is important for brain development and function
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS inflammation
    PATHWAY
    metabolism
    signaling
    a component
  • MIA2 forms a complex with MIA3, a previously characterized cargo receptor for collagen VII, by the interaction of their coiled-coil motifs
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • MIA2 acts as a coreceptor of MIA3 for collagen VII export from the ER
  • PREB recruitment to ER exit sites is organized by its direct interaction with MIA2, a previously characterized collagen cargo receptor component, which functions together with MIA3 at ER exit sites
  • general role for MIA3 in the export of bulky cargoes from the ER and specific requirement for MIA2 in assisting MIA3 to export bulky lipid particles
  • recruitment of PREB by MIA2 contributes to efficient activation of SAR1A in the vicinity of ER exit sites
  • interacts with components of the ER coat protein complex II (COPII) which, when depleted, also cause lipid accumulation in hepatocytes
  • MIA3 recruits membrane-bound macromolecular complexes consisting of MIA2 and PREB to the ER exit sites
  • MIA2/MIA3 complex interacts with the GEF and the GAP of SAR1A and tightly regulates its GTPase cycle to accomplish large cargo secretion
  • MIA2 interacts with vesicle membrane soluble N-ethyl-maleimide sensitive factor attachment protein receptor SEC22B and this interaction with MIA2 is essential for proinsulin processing
    • cell & other
    REGULATION
    induced by HNF1, IL-6 and TGF-beta
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in liver damage, in chronic liver disease and correlates with the severity of fibrosis and inflammation in hepatitis C
    constitutional germinal mutation      
    in patients with Fahr disease
    Susceptibility to Familial idiopathic basal ganglia calcification (IBGC)
    Variant & Polymorphism other
  • P521A variation associated with the risk of familial idiopathic basal ganglia calcification
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS