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FLASH GENE
Symbol DYNLT2B contributors: mct - updated : 23-12-2020
HGNC name dynein light chain Tctex-type 2B
HGNC id 28482
Corresponding disease
SRPS10 short rib-polydactyly syndrome type X
Location 3q29      Physical location : -
Synonym name
  • Tctex1 domain containing 2
  • Synonym symbol(s) TCTEX1D2, MGC33212
    DNA
    TYPE functioning gene
    STRUCTURE 27.02 kb     5 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 695 - 142 - 2018 29742051
    5 - 620 - 148 - 2018 29742051
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a TCTEX1 domain found in dynein light chain family members
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    text
  • localized to the basal body, and the primary cilium
  • basic FUNCTION
  • is a novel dynein light chain important for trafficking to the cilium and potentially retrograde IFT
  • TCTEX1D2 and WDR60 were stable throughout the cell cycle, associated with dynein, and localized to the microtubule organizing center in a microtubule-dependent manner
  • integral component of the evolutionarily conserved retrograde IFT machinery
  • in complex with several IFT dynein light chains, it is required for correct vertebrate skeletal formation but may be functionally redundant under certain conditions
  • is a light chain of IFT dynein and it is essential for IFT dynein stability and normal retrograde (tip-to-base) IFT
  • is a novel syntaxin 4 binding protein that functions as a negative regulator of SLC2A4 plasma membrane translocation through inhibition of the DOC2B-syntaxin 4 interaction
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • associated with the cytoplasmic dynein 1 heavy chain (DYNC1H1), whereas, in ciliated cells it was exclusively associated with the dynein 2 heavy chain (DYNC2H1)
  • associates with WDR34, WDR60, and other subunits of DYNC1 and DYNC2 (DYNC2H1) and colocalizes with WDR60 to microtubule organizing centers during interphase
  • associate with syntaxin 4 in an insulin-dependent manner and inhibit DOC2B binding to syntaxin 4
  • WDR60 plays a major role and DYNLT2B plays an auxiliary role in the dynein-2 complex to mediate retrograde ciliary protein trafficking
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SRPS10
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    significantly inhibited insulin-stimulated glucose transporter 4 (SLC2A4) translocation and 2-deoxyglucose uptake
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS