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FLASH GENE
Symbol DYNC2H1 contributors: mct - updated : 28-12-2020
HGNC name dynein, cytoplasmic 2, heavy chain 1
HGNC id 2962
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a conserved globular, ATP binding N terminal head
  • a tail composed of a string of rod-like domains
  • HOMOLOGY
    Homologene
    FAMILY
  • dynein heavy chain/ATP family
  • CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
    basic FUNCTION
  • having ATPase activity
  • involved in intracellular movement or organelles and vesicles or in the orientation of the mitotic spindle apparatus
  • essential for motility of cilia and flagella
  • playing a role in retrograde transport in the cilium
  • playing an an essential role in cilia function in cartilage, in skeletogenesis and growth
  • required for retrograde ciliary trafficking
  • CELLULAR PROCESS cell cycle, division, mitosis
    cell communication
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • cytoplasmic dynein made of two heavy and several light and intermediate chains
  • INTERACTION
    DNA
    RNA
    small molecule
  • ATP
  • protein
  • interacting with IFT122 (IFT122 like DYNC2H1, is required for retrograde ciliary trafficking, but reduction of IFT122 gene dosage also suppresses the DYNC2H1 phenotype)
  • DYNC2LI1 interacts with DYNC2H1 to form the dynein-2 complex important for retrograde intraflagellar transport (IFT)
  • cell & other
  • intermediate end light chain microtubule binding modulated by dynactin
  • REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SRPS3A
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    DYNC2H1 variants, either hypomorphic or affecting a retina-predominant transcript caused nonsyndromic inherited retinal disease (IRD)
    constitutional germinal mutation      
    led to a complete loss of motor neurons (MNs) in anterior regions of the spinal cord, indicating a strong down-regulation of SHH signaling
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mutations in mouse Dync2h1 disrupt cilia structure, block Sonic hedgehog signaling and cause midgestation lethality