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FLASH GENE
Symbol TTC21B contributors: mct - updated : 31-05-2019
HGNC name tetratricopeptide repeat domain 21B
HGNC id 25660
Corresponding disease
ATD4 asphyxiating thoracic dystrophy 4
NPHP12 nephronophthisis 12
Location 2q24.3      Physical location : 166.730.453 - 166.810.348
Synonym name
  • TPR repeat protein 21B
  • putative protein product of Nbla10696
  • tetratricopeptide repeat-containing hedgehog modulator-1
  • retrograde intraflagellar transport protein 139
  • Synonym symbol(s) Nbla10696, FLJ11457, THM1, IFT139, ATD4, SRTD4, JBTS11, NPHP12, Nbla10696
    DNA
    TYPE functioning gene
    STRUCTURE 79.90 kb     29 Exon(s)
    MAPPING cloned Y linked Y status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    29 - 4916 150.9 1316 - 2011 21068128
    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
    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