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FLASH GENE
Symbol TTC21B contributors: mct - updated : 31-05-2019
HGNC name tetratricopeptide repeat domain 21B
HGNC id 25660
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • several tetratricopeptide (TPR) domains that seem important for ciliary function by virtue of their enrichment in the ciliary proteome and photoreceptor sensory cilium proteome
    • HOMOLOGY
    intraspecies paralog to TTC21A
    Homologene
    FAMILY
    CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    intracellular,cytoplasm,cytoskeleton,intermed filament
    intracellular,nucleus,chromatin/chromosome
    text localizes to cilia
    basic FUNCTION
  • axonemal protein that is required for retrograde intraflagellar transport
  • negatively modulates potentially sonic hedgehog signal transduction and affects retrograde intraflagellar transport in cilia
  • required to restrict sonic hedgehog activity in the developing mouse forebrain
  • novel photoreceptor sensory cilium protein and is required for normal cilia formation in primary and photoreceptor sensory cilia
  • may be required for normal photoreceptor development
  • contributes both causal and modifying alleles across the ciliopathy spectrum
  • encodes a component of the intraflagellar transport-A complex
  • is required for proper primary cilia form and function, and is primarily thought to restrict SHH signaling
  • TTC21B expression is required for Bergmann glia structure and signaling in the developing cerebellum, and in some contexts, augments rather than attenuates SHH signaling
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • IFT-A protein complex consists of IFT43, WDR35, IFT122, TTC21B, IFT140 and WDR19 and is associated with THM1 and TULP3
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • is dispensable for IFT-A assembly but essential for retrograde trafficking of IFT-A, IFT-B, and GPCRs
  • interacts with the IFT-A complex via the IFT122 subunit and is accumulated at the distal tip in the absence of an IFT-A subunit TTC21B
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ATD4 , NPHP12
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    cause both isolated nephronophthisis and syndromic Jeune asphyxiating thoracic dystrophy
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • ciliary defects seen in the Ttc21b murine mutant extend to the embryonic brain, adding forebrain development to the spectrum of tissues affected by defects in ciliary physiology
  • in mouse Thm1-mutant ciliary defect diminishes sensitivity to feeding signals, which alters appetite regulation and leads to hyperphagia, obesity and metabolic disease