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FLASH GENE
Symbol TTC21B contributors: mct - updated : 31-05-2019
HGNC name tetratricopeptide repeat domain 21B
HGNC id 25660
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Reproductivemale systemmale genital tractseminiferous tubule   Homo sapiens
 male systemtestis    Homo sapiens
Visualeyeretina    Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Reproductiveciliated cell Homo sapiens
ReproductiveLeydig cell Homo sapiens
Visualcone photoreceptor Homo sapiens
Visualrod photoreceptor Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
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