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FLASH GENE
Symbol DYNC1I2 contributors: mct - updated : 04-01-2019
HGNC name dynein, cytoplasmic, intermediate polypeptide 2
HGNC id 2964
Corresponding disease
MMRBF microcephaly with mental retardation, cerebral malformations, and dysmorphic facial features
Location 2q31.1      Physical location : 172.543.981 - 172.604.919
Synonym name
  • dynein light intermediate chain 2
  • Synonym symbol(s) DNCI2, IC2, DIC74, LIC2
    DNA
    TYPE functioning gene
    STRUCTURE 62.75 kb     18 Exon(s)
    MAPPING cloned Y linked   status tentative : very preliminary evidence
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    18 - 4414 - 638 - 1999 10049579
    16 - 4390 - 630 - 1999 10049579
    17 - 4396 - 632 - 1999 10049579
    16 - 4336 - 612 - 1999 10049579
    16 - 4333 - 611 - 1999 10049579
    16 - 4397 - 638 - 1999 10049579
    16 - 4373 - 630 - 1999 10049579
    17 - 4379 - 632 - 1999 10049579
    16 - 4319 - 612 - 1999 10049579
    16 - 4316 - 611 - 1999 10049579
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouthtongue  highly
    Lymphoid/Immunethymus   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    Nervouscentral   
    Nervousperipherous   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    five (? or seven) WD repeats
    HOMOLOGY
    interspecies homolog to murine Dncic1
    Homologene
    FAMILY dynein intermediate chain family
    CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic,vesicle
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
    text
  • DYNC1I2 protein was expressed specifically in the multiciliated cells, and was localized predominantly in the ciliary axoneme
  • basic FUNCTION
  • involved in intracellular movement or organelles and vesicles or in the orientation of the mitotic spindle apparatus
  • directing the dynein molecule to its appropriate subcellular target sites
  • DYNC1I1 and DYNC1I2 are involved in dynein cargo binding and dynein complexes with different intermediate chains bind to specific cargoes
  • DYNC1I1–DYNC1I2 complex formation, the first step of outer dynein arms (ODAs) assembly, does likely not require LRRC6 (
  • required for proper development and maintenance of the vertebrate brain
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • cytoplasmic dynein made of two heavy and several light and intermediate chains
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • heavy and light chains
  • PARD3 acts as a cortical factor that tethers Microtubules through its association with DYNC1I2
  • outer dynein arms (ODAs) DNAH5, DNAH9, DYNC1I2 proteins may be transported from the cytoplasm to the cilia by an LRRC6-dependent mechanism
  • cell & other microtubule binding
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MMRBF
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS