Gene content    
THRB ( by HUGO)
Thyroid Hormone Receptor, Beta
Oncogene
Thyroid Hormone Receptor
Beta
ERBA2
PRTH
THR1
Thyroid Hormone Receptor
Beta (Erythroblastic Leukemia Viral (V-Erb-A) Oncogene Homolog 2
Avian)
Oncogene ERBA2
Nuclear Receptor Subfamily 1 Group A Member 2
NR1A2
Avian Erythroblastic Leukemia Viral (V-Erb-A) Oncogene Homolog 2
Generalized Resistance To Thyroid Hormone
Pituitary Resistance To Thyroid Hormone
Thyroid Hormone Receptor Beta 1
Thyroid Hormone Receptor
Beta (Avian Erythroblastic Leukemia Viral (V-Erb-A) Oncogene Homolog 2)
C-ERBA-2
C-ERBA-BETA
GRTH
THRB1
THRB2
Thyroid Hormone Nuclear Receptor Beta Variant 1
Thyroid Hormone Receptor Beta
c-erbA-2
c-erbA-beta
NCBI: 3p24.2    Ensembl: 3p24.2
THB_HUMANSize: 461 amino acidsMass: 52788 Da

  • Subunit: Binds DNA as a dimer; homodimer and heterodimer with RXRA. Interacts with the coactivators NCOA1/SRC1, NCOA2/GRIP1, NCOA7 and MED1/TRAP220 in a ligand-inducible manner. Interacts with the corepressor NCOR1 in absence of ligand. Interacts with C1D (By similarity). Interacts with NR2F6; the interaction impairs the binding of the THRB homodimer and THRB:RXRB heterodimer to T3 response elements. Interacts with PRMT2 and THRSP Sequence caution: Sequence=AAA35677.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAA28412.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Selected PDB 3D structures from [IMAGE] and Proteopedia [IMAGE] for THRB (see all 18): 1BSX (3D) [IMAGE] 1N46 (3D) [IMAGE] 1NAX (3D) [IMAGE] 1NQ0 (3D) [IMAGE] 1NQ1 (3D) [IMAGE] 1NQ2 (3D) [IMAGE]
  • Function:
    UniProtKB/Swiss-Prot Summary: THB_HUMAN, P10828 Function: Nuclear hormone receptor that can act as a repressor or activator of transcription. High affinity receptor for thyroid hormones, including triiodothyronine and thyroxine
  • Similarity:
    Belongs to the nuclear hormone receptor family. NR1 subfamily
                          
    Contains 1 nuclear receptor DNA-binding domain [IMAGE]

    • Protein Domain/Family    
    Source ID Domain Name Type
    InterProIPR000536Nucl_hrmn_rcpt_lig-bd_coreNuclear hormone receptor, ligand-bindingDomain
    IPR001628Znf_hrmn_rcptNuclear hormone receptor, DNA-bindingDomain
    IPR001723Str_hrmn_rcptSteroid hormone receptorFamily
    IPR001728ThyrH_rcptThyroid hormone receptorFamily
    IPR008946Nucl_hormone_rcpt_ligand-bdSteroid nuclear receptor, ligand-bindingDomain
    BlocksIPB001723Steroid hormone receptor signatureSteroid hormone receptor signature
    IPB001728Thyroid hormone receptor signatureThyroid hormone receptor signature

    Gene Ontology    
    Type Term Evidence Source Pub
    Biological Process intracellular receptor signaling pathway TAS GOA 1618799
    intracellular receptor signaling pathway IDA GOA 15466465
    transcription, DNA-templated TAS GOA 1618799
    Cellular Component nucleus TAS GOA 1618799
    Molecular Function DNA binding TAS GOA 1618799
    enzyme binding IPI GOA 12039952
    protein binding IPI GOA 15100213
    sequence-specific DNA binding transcription factor activity NAS GOA 1618799
    thyroid hormone binding IDA GOA 15466465
    thyroid hormone receptor activity IDA GOA 15466465
    transcription corepressor activity TAS GOA 1618799

    Disorder & Mutation    
    Source Disease
    SWISS-PROTSelective pituitary thyroid hormone resistance (PRTH) [MIM:145650]: Variant form of thyroid hormone resistance and is characterized by clinical hyperthyroidism, with elevated free thyroid hormones, but inappropriately normal serum TSH. Unlike GRTH, where the syndrome usually segregates with a dominant allele, the mode of inheritance in PRTH has not been established. Note=The disease is caused by mutations affecting the gene represented in this entry
    SWISS-PROTGeneralized thyroid hormone resistance (GTHR) [MIM:188570]: A disease characterized by goiter, abnormal mental functions, increased susceptibility to infections, abnormal growth and bone maturation, tachycardia and deafness. Affected individuals may also have attention deficit-hyperactivity disorders (ADHD) and language difficulties. GTHR patients also have high levels of circulating thyroid hormones (T3-T4), with normal or slightly elevated thyroid stimulating hormone (TSH). Note=The disease is caused by mutations affecting the gene represented in this entry
    SWISS-PROTGeneralized thyroid hormone resistance autosomal recessive (GTHRAR) [MIM:274300]: An autosomal recessive disorder characterized by goiter, clinical euthyroidism, end-organ unresponsiveness to thyroid hormone, abnormal growth and bone maturation, and deafness. Patients also have high levels of circulating thyroid hormones, with elevated thyroid stimulating hormone. Note=The disease is caused by mutations affecting the gene represented in this entry

    THRB cross reference    
    PubMed OMIM Entrez Gene NCKU SNP Nucleotide UniProt Genome Data Viewer HomoloGene