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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
Corresponding disease
GHTR goiter with thyroid hormone resistance, generalized
THRB hyperthyroxinemia, euthyroidal familial
Location 3p24.2      Physical location : 24.158.646 - 24.536.313
Synonym name
  • oncogene ERBA2
  • generalized resistance to thyroid hormone
  • thyroid hormone receptor beta 1
  • nuclear receptor subfamily 1 group A member 2
  • Synonym symbol(s) TRB, ERBA2, NR1A2, THR1, THRB1, THRB2, ERBA-BETA, GRTH, MGC126109, MGC126110
    DNA
    TYPE functioning gene
    STRUCTURE 377.67 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    text structure two different proteins by use of a different promoter (beta1 and beta2)
    MAPPING cloned Y linked Y status confirmed
    Map see PTPRG
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 splicing 7480 - 461 . fibroblasts, brain, pituitary, adrenal gland, placenta, muscle, thyroid and lymphocytes . restricted to some specific organs, including the pituitary and hypothalamus 2004 15233549
    TRbeta2
    10 splicing 7416 - 461 fibroblasts, brain, pituitary, adrenal gland, placenta, muscle, thyroid and lymphocytes 2004 15233549
    TRbeta1
    11 - 7553 - 461 - 2004 15233549
    - - - 29.5 259 . expressed in various human tissues, and especially abundant in testis and skeletal muscle 2010 20470753
  • a 137-bp insertion, which contains a stop codon in the middle, between the 5th and 6th exons that encode the ligand-binding domain
  • C-terminal splicing variant of TRbeta1
  • unable to bind thyroid hormone (T3)
  • may modulate hormone action as an endogenous antagonist in the tissue or cellular context
  • EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineneuroendocrinepituitary  highly
    Hearing/Equilibriumear   highly
    Reproductivefemale systembreastmammary gland highly
    Urinarybladder   highly
    Visualeyeretina    Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    Visualcone photoreceptor Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text inner ear, retina (green cone photoreceptors)
    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