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FLASH GENE
Symbol DYNC2H1 contributors: mct - updated : 20-10-2012
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
Synonym symbol(s) DHC2, HDHC11, DNCH2, DHC1b, DYH1B, FLJ11756, 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)
    cell & other
  • intermediate end light chain microtubule binding modulated by dynactin
  • REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SRPS3A
    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