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FLASH GENE
Symbol THRB contributors: mct/ - updated : 12-06-2015
HGNC name thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)
HGNC id 11799
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a N terminal modulator domain
  • a central bipartite (class II) zinc finger DNA binding domain
  • a C terminal ligand domain
    • HOMOLOGY
    interspecies homolog to murine Thbr
    Homologene
    FAMILY
  • steroid/thyroid hormone receptor superfamily
  • nuclear hormone receptor family
    • CATEGORY transcription factor , signaling hormone , receptor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • essential for inner ear development and color vision
  • tumor suppressor in thyroid tissue, whose inactivation through aberrant methylation may be a relevant event in the tumorigenesis of differentiated thyroid cancer, particularly follicular thyroid cancer
  • role (direct and/or indirect) in chromatin remodeling that leads to permanent gene silencing in terminally differentiated, dorsal cone photoreceptors
  • regulates important events of cerebellar ontogenesis contributing to a better understanding of some neuroendocrine disorders
  • THRB and NCOA4 regulate terminal erythrocyte differentiation
    • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling hormonal
    thyroid
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • necessary for dorsal repression, but not ventral activation of S opsin (OPN1SW)
  • Zn-finger region of GATA2 (GATA2-Zf) has an important role in down-regulation of the thyrotropin gene (TSHB) by liganded thyroid hormone receptor (THRB)
  • thyroid hormone (TH), a regulator of hepatic gluconeogenesis acts through its nuclear receptor (THRA, THRB) to induce the expression of PCK1 and G6PC
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) GHTR , THRB
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --other  
    dysregulated in breast cancer
    tumoral     --low  
    in follicular thyroid cancer
    tumoral     --low  
    hypermethylation of THRB as an alternative gene silencing mechanism is highly prevalent in breast cancer
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurosensorialvisual 
    inhibition of THRA, THRB locally in the retina is a therapeutic strategy for retinal degeneration
    ANIMAL & CELL MODELS
    mice with a targeted mutation exhibit impaired growth and resistance to THR