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FLASH GENE
Symbol MIA2 contributors: mct - updated : 05-12-2018
HGNC name melanoma inhibitory activity 2
HGNC id 18432
Location 14q21.1      Physical location : 39.703.124 - 39.722.573
Synonym name
  • CTAGE family member 5, ER export factor
  • cutaneous T-cell lymphoma-associated antigen 5
  • melanoma inhibitory activity 2
  • meningioma expressed antigen 6 (coiled-coil proline-rich)
  • meningioma-expressed antigen 6/11
  • Synonym symbol(s) FLJ22404, cTAGE5, MEA6, MGEA, MGEA11, MGEA6, TALI
    DNA
    TYPE functioning gene
    SPECIAL FEATURE gene in gene
    STRUCTURE 154.60 kb     4 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter (TATA box)
    Binding site   transcription factor   hormone
    text structure HNF1, STAT3 and SMAD binding sites in the promoter region, leading to its transcriptional control
    MAPPING cloned Y linked N status provisional
    Physical map
    LOC387986 14 LOC387986 SSTR1 14q13.3 somatostatin receptor 1 C14orf27 14q13.3 chromosome 14 open reading frame 27 LOC390470 14 similar to KRT8 protein SEC23A 14q13.2 Sec23 homolog A (S. cerevisiae) PPIAP4 14 peptidylprolyl isomerase A (cyclophilin A) pseudogene 4 SIP1 14q13-q21 survival of motor neuron protein interacting protein 1 TRAPPC6B 14q13.3 trafficking protein particle complex 6B LOC390471 14 similar to 60S ribosomal protein L7a (Surfeit locus protein 3) (PLA-X polypeptide) PNN 14q13 pinin, desmosome associated protein LOC283548 14q13.3 similar to HGRG8 protein MIA2 14q13.2 melanoma inhibitory activity 2 MGEA6 14q13.3 meningioma expressed antigen 6 (coiled-coil proline-rich) COILP 14q13.1--q13.3 coilin pseudogene FBXO33 14 F-box only protein 33
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    22 - 3382 - 732 - 2017 28442536
    23 - 3695 - 809 - 2017 28442536
    24 - 3585 - 729 - 2017 28442536
    29 - 5362 - 1412 - 2017 28442536
    24 - 3399 - 775 - 2017 28442536
    24 - 3347 - 775 - 2017 28442536
    24 - 3270 - 732 - 2017 28442536
    24 - 3409 - 724 - 2017 28442536
    24 - 3570 - 724 - 2017 28442536
    23 - 3272 - 681 - 2017 28442536
    23 - 3108 - 681 - 2017 28442536
    23 - 3441 - 681 - 2017 28442536
    23 - 3725 - 648 - 2017 28442536
    23 - 3302 - 749 - 2017 28442536
    23 - 3433 - 749 - 2017 28442536
    24 - 4044 - 742 - 2017 28442536
    22 - 3304 - 706 - 2017 28442536
    24 - 3397 - 798 - 2017 28442536
    25 - 3707 - 813 - 2017 28442536
    24 - 3578 - 770 - 2017 28442536
    22 - 3473 - 735 - 2017 28442536
    24 - 4213 - 771 - 2017 28442536
    23 - 4084 - 728 - 2017 28442536
    23 - 3492 - 698 - 2017 28442536
    23 - 3602 - 778 - 2017 28442536
    24 - 3680 - 804 - 2017 28442536
    6 - 2351 - 654 - 2017 28442536
    24 - 3431 - 792 - 2017 28442536
    23 - 3551 - 761 - 2017 28442536
    24 - 3511 - 775 - 2017 28442536
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   specific
    Reproductivemale systemtestis  lowly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Digestivehepatocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text liver, less than in adult liver
    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