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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
Corresponding disease
SRPS3A short rib-polydactyly syndrome type III A
Location 11q22.3      Physical location : 102.980.159 - 103.350.591
Synonym name
  • dynein, cytoplasmic, heavy polypeptide 2
  • dynein heavy chain 11
  • dynein heavy chain, isotype 1B
  • Synonym symbol(s) DHC2, HDHC11, DNCH2, DHC1b, DYH1B, FLJ11756, hdhc11, ATD3, SRPS2B, SRTD3, hdhc11
    DNA
    TYPE functioning gene
    STRUCTURE 370.43 kb     90 Exon(s)
    motif repetitive sequence
    MAPPING cloned Y linked   status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    90 - 13699 - 4314 - 1998 9763680
    89 - 13678 - 4307 - 1998 9763680
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivefemale systembreastmammary gland highly
     male systemprostate  highly
    Respiratoryrespiratory tractlarynx  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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