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THRB thyroid hormone receptor, beta [ Homo sapiens (human) ]

Gene ID: 7068, updated on 14-May-2015
Official Symbol
THRBprovided by HGNC
Official Full Name
thyroid hormone receptor, betaprovided by HGNC
Primary source
HGNC:HGNC:11799
See related
Ensembl:ENSG00000151090; HPRD:07521; MIM:190160; Vega:OTTHUMG00000130478
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GRTH; PRTH; THR1; ERBA2; NR1A2; THRB1; THRB2; C-ERBA-2; C-ERBA-BETA
Summary
The protein encoded by this gene is a nuclear hormone receptor for triiodothyronine. It is one of the several receptors for thyroid hormone, and has been shown to mediate the biological activities of thyroid hormone. Knockout studies in mice suggest that the different receptors, while having certain extent of redundancy, may mediate different functions of thyroid hormone. Mutations in this gene are known to be a cause of generalized thyroid hormone resistance (GTHR), a syndrome characterized by goiter and high levels of circulating thyroid hormone (T3-T4), with normal or slightly elevated thyroid stimulating hormone (TSH). Several alternatively spliced transcript variants encoding the same protein have been observed for this gene. [provided by RefSeq, Jul 2008]
Orthologs
See THRB in MapViewer
Location:
3p24.2
Exon count:
17
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 3 NC_000003.12 (24117153..24495281, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (24158644..24536772, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 691 Neighboring gene nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 23 Neighboring gene uncharacterized LOC101927854 Neighboring gene uncharacterized LOC105376994 Neighboring gene ribosomal protein L31 pseudogene 20 Neighboring gene THRB antisense RNA 1 Neighboring gene microRNA 4792 Neighboring gene eukaryotic translation initiation factor 3, subunit K pseudogene 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Thyroid hormone resistance, generalized, autosomal dominant
MedGen: C2937288 OMIM: 188570 GeneReviews: Not available
Compare labs
Thyroid hormone resistance, generalized, autosomal recessive
MedGen: CN074252 OMIM: 274300 GeneReviews: Not available
Compare labs
Thyroid hormone resistance, selective pituitary
MedGen: C1840364 OMIM: 145650 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
NHGRI GWA Catalog
Genome-wide association study of hematological and biochemical traits in a Japanese population.
NHGRI GWA Catalog
Genome-wide meta-analysis of systolic blood pressure in children with sickle cell disease.
NHGRI GWA Catalog
Seventy-five genetic loci influencing the human red blood cell.
NHGRI GWA Catalog
  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
    Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
  • Neuroactive ligand-receptor interaction, organism-specific biosystem (from KEGG)
    Neuroactive ligand-receptor interaction, organism-specific biosystem
    Neuroactive ligand-receptor interaction
  • Neuroactive ligand-receptor interaction, conserved biosystem (from KEGG)
    Neuroactive ligand-receptor interaction, conserved biosystem
    Neuroactive ligand-receptor interaction
  • Nuclear Receptor transcription pathway, organism-specific biosystem (from REACTOME)
    Nuclear Receptor transcription pathway, organism-specific biosystemA classic example of bifunctional transcription factors is the family of Nuclear Receptor (NR) proteins. These are DNA-binding transcription factors that bind certain hormones, vitamins, and other s...
  • Nuclear Receptors, organism-specific biosystem (from WikiPathways)
    Nuclear Receptors, organism-specific biosystemNuclear receptors are a class of proteins found within the interior of cells that are responsible for sensing the presence of steroid and thyroid hormones and certain other molecules. In response, th...
  • SIDS Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
    SIDS Susceptibility Pathways, organism-specific biosystemIn this model, we provide an integrated view of Sudden Infant Death Syndrome (SIDS) at the level of implicated tissues, signaling networks and genetics. The purpose of this model is to serve as an ov...
  • Thyroid hormone signaling pathway, organism-specific biosystem (from KEGG)
    Thyroid hormone signaling pathway, organism-specific biosystemThe thyroid hormones (THs) are important regulators of growth, development and metabolism. The action of TH is mainly mediated by T3 (3,5,3'-triiodo-L-thyronine). Thyroid hormones, L-thyroxine (T4) a...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC126109, MGC126110

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding TAS
Traceable Author Statement
more info
PubMed 
chromatin DNA binding IEA
Inferred from Electronic Annotation
more info
 
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
sequence-specific DNA binding transcription factor activity NAS
Non-traceable Author Statement
more info
PubMed 
steroid hormone receptor activity IEA
Inferred from Electronic Annotation
more info
 
thyroid hormone binding IDA
Inferred from Direct Assay
more info
PubMed 
thyroid hormone receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
transcription corepressor activity TAS
Traceable Author Statement
more info
PubMed 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
Type I pneumocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
female courtship behavior IEA
Inferred from Electronic Annotation
more info
 
gene expression TAS
Traceable Author Statement
more info
 
intracellular receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
intracellular receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
intracellular receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
negative regulation of female receptivity IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
organ morphogenesis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
regulation of heart contraction IEA
Inferred from Electronic Annotation
more info
 
sensory perception of sound IEA
Inferred from Electronic Annotation
more info
 
steroid hormone mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
transcription initiation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
transcription, DNA-templated TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
nuclear chromatin IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus TAS
Traceable Author Statement
more info
PubMed 
Preferred Names
thyroid hormone receptor beta
Names
thyroid hormone receptor beta
nuclear receptor subfamily 1 group A member 2
oncogene ERBA2
thyroid hormone nuclear receptor beta variant 1
thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009159.1 RefSeqGene

    Range
    5001..382670
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000461.4NP_000452.2  thyroid hormone receptor beta

    See identical proteins and their annotated locations for NP_000452.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript. Variants 1, 2, 3 and 4 encode the same protein.
    Source sequence(s)
    AC012087, AC098971, AK095776, AW449568, BC028910, BC106929, BP313943, M26747
    Consensus CDS
    CCDS2641.1
    UniProtKB/TrEMBL
    F1D8N7
    UniProtKB/Swiss-Prot
    P10828
    Related
    ENSP00000348827, OTTHUMP00000161044, ENST00000356447, OTTHUMT00000252877
    Conserved Domains (2) summary
    cd06935
    Location:216458
    NR_LBD_TR; The ligand binding domain of thyroid hormone receptor, a members of a superfamily of nuclear receptors
    cd06961
    Location:106192
    NR_DBD_TR; DNA-binding domain of thyroid hormone receptors (TRs) is composed of two C4-type zinc fingers
  2. NM_001128176.2NP_001121648.1  thyroid hormone receptor beta

    See identical proteins and their annotated locations for NP_001121648.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3 and 4 encode the same protein.
    Source sequence(s)
    AC012087, AC098971, AW449568, AY286468, BC106930, GQ869477
    Consensus CDS
    CCDS2641.1
    UniProtKB/TrEMBL
    F1D8N7
    UniProtKB/Swiss-Prot
    P10828
    Related
    ENSP00000379904, ENST00000396671
    Conserved Domains (2) summary
    cd06935
    Location:216458
    NR_LBD_TR; The ligand binding domain of thyroid hormone receptor, a members of a superfamily of nuclear receptors
    cd06961
    Location:106192
    NR_DBD_TR; DNA-binding domain of thyroid hormone receptors (TRs) is composed of two C4-type zinc fingers
  3. NM_001128177.1NP_001121649.1  thyroid hormone receptor beta

    See identical proteins and their annotated locations for NP_001121649.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3 and 4 encode the same protein.
    Source sequence(s)
    AC012087, AC098971, AK095776, AK096628, AW449568, BC028910, M26747
    Consensus CDS
    CCDS2641.1
    UniProtKB/TrEMBL
    F1D8N7
    UniProtKB/Swiss-Prot
    P10828
    Conserved Domains (2) summary
    cd06935
    Location:216458
    NR_LBD_TR; The ligand binding domain of thyroid hormone receptor, a members of a superfamily of nuclear receptors
    cd06961
    Location:106192
    NR_DBD_TR; DNA-binding domain of thyroid hormone receptors (TRs) is composed of two C4-type zinc fingers
  4. NM_001252634.1NP_001239563.1  thyroid hormone receptor beta

    See identical proteins and their annotated locations for NP_001239563.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3 and 4 encode the same protein.
    Source sequence(s)
    AC012087, AC098971, AK096628, AW449568, GQ869477
    Consensus CDS
    CCDS2641.1
    UniProtKB/TrEMBL
    F1D8N7
    UniProtKB/Swiss-Prot
    P10828
    Conserved Domains (2) summary
    cd06935
    Location:216458
    NR_LBD_TR; The ligand binding domain of thyroid hormone receptor, a members of a superfamily of nuclear receptors
    cd06961
    Location:106192
    NR_DBD_TR; DNA-binding domain of thyroid hormone receptors (TRs) is composed of two C4-type zinc fingers

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p2 Primary Assembly

    Range
    24117153..24495281
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005265424.2XP_005265481.1  

    See identical proteins and their annotated locations for XP_005265481.1

    UniProtKB/TrEMBL
    F1D8N7
    UniProtKB/Swiss-Prot
    P10828
    Conserved Domains (2) summary
    cd06935
    Location:216458
    NR_LBD_TR; The ligand binding domain of thyroid hormone receptor, a members of a superfamily of nuclear receptors
    cd06961
    Location:106192
    NR_DBD_TR; DNA-binding domain of thyroid hormone receptors (TRs) is composed of two C4-type zinc fingers
  2. XM_011534048.1XP_011532350.1  

    See identical proteins and their annotated locations for XP_011532350.1

    Conserved Domains (2) summary
    cd06935
    Location:216458
    NR_LBD_TR; The ligand binding domain of thyroid hormone receptor, a members of a superfamily of nuclear receptors
    cd06961
    Location:106192
    NR_DBD_TR; DNA-binding domain of thyroid hormone receptors (TRs) is composed of two C4-type zinc fingers
  3. XM_011534053.1XP_011532355.1  

    Conserved Domains (2) summary
    cd06935
    Location:185427
    NR_LBD_TR; The ligand binding domain of thyroid hormone receptor, a members of a superfamily of nuclear receptors
    cd06961
    Location:75161
    NR_DBD_TR; DNA-binding domain of thyroid hormone receptors (TRs) is composed of two C4-type zinc fingers
  4. XM_005265423.3XP_005265480.1  

    See identical proteins and their annotated locations for XP_005265480.1

    UniProtKB/TrEMBL
    F1D8N7
    UniProtKB/Swiss-Prot
    P10828
    Conserved Domains (2) summary
    cd06935
    Location:216458
    NR_LBD_TR; The ligand binding domain of thyroid hormone receptor, a members of a superfamily of nuclear receptors
    cd06961
    Location:106192
    NR_DBD_TR; DNA-binding domain of thyroid hormone receptors (TRs) is composed of two C4-type zinc fingers
  5. XM_005265421.3XP_005265478.1  

    See identical proteins and their annotated locations for XP_005265478.1

    UniProtKB/TrEMBL
    F1D8N7
    UniProtKB/Swiss-Prot
    P10828
    Conserved Domains (2) summary
    cd06935
    Location:216458
    NR_LBD_TR; The ligand binding domain of thyroid hormone receptor, a members of a superfamily of nuclear receptors
    cd06961
    Location:106192
    NR_DBD_TR; DNA-binding domain of thyroid hormone receptors (TRs) is composed of two C4-type zinc fingers
  6. XM_011534050.1XP_011532352.1  

    See identical proteins and their annotated locations for XP_011532352.1

    Conserved Domains (2) summary
    cd06935
    Location:216458
    NR_LBD_TR; The ligand binding domain of thyroid hormone receptor, a members of a superfamily of nuclear receptors
    cd06961
    Location:106192
    NR_DBD_TR; DNA-binding domain of thyroid hormone receptors (TRs) is composed of two C4-type zinc fingers
  7. XM_006713318.2XP_006713381.1  

    See identical proteins and their annotated locations for XP_006713381.1

    UniProtKB/TrEMBL
    F1D8N7
    UniProtKB/Swiss-Prot
    P10828
    Conserved Domains (2) summary
    cd06935
    Location:216458
    NR_LBD_TR; The ligand binding domain of thyroid hormone receptor, a members of a superfamily of nuclear receptors
    cd06961
    Location:106192
    NR_DBD_TR; DNA-binding domain of thyroid hormone receptors (TRs) is composed of two C4-type zinc fingers
  8. XM_006713317.2XP_006713380.1  

    See identical proteins and their annotated locations for XP_006713380.1

    UniProtKB/TrEMBL
    F1D8N7
    UniProtKB/Swiss-Prot
    P10828
    Conserved Domains (2) summary
    cd06935
    Location:216458
    NR_LBD_TR; The ligand binding domain of thyroid hormone receptor, a members of a superfamily of nuclear receptors
    cd06961
    Location:106192
    NR_DBD_TR; DNA-binding domain of thyroid hormone receptors (TRs) is composed of two C4-type zinc fingers
  9. XM_011534047.1XP_011532349.1  

    See identical proteins and their annotated locations for XP_011532349.1

    Conserved Domains (2) summary
    cd06935
    Location:216458
    NR_LBD_TR; The ligand binding domain of thyroid hormone receptor, a members of a superfamily of nuclear receptors
    cd06961
    Location:106192
    NR_DBD_TR; DNA-binding domain of thyroid hormone receptors (TRs) is composed of two C4-type zinc fingers
  10. XM_011534049.1XP_011532351.1  

    See identical proteins and their annotated locations for XP_011532351.1

    Conserved Domains (2) summary
    cd06935
    Location:216458
    NR_LBD_TR; The ligand binding domain of thyroid hormone receptor, a members of a superfamily of nuclear receptors
    cd06961
    Location:106192
    NR_DBD_TR; DNA-binding domain of thyroid hormone receptors (TRs) is composed of two C4-type zinc fingers
  11. XM_011534046.1XP_011532348.1  

    See identical proteins and their annotated locations for XP_011532348.1

    Conserved Domains (2) summary
    cd06935
    Location:216458
    NR_LBD_TR; The ligand binding domain of thyroid hormone receptor, a members of a superfamily of nuclear receptors
    cd06961
    Location:106192
    NR_DBD_TR; DNA-binding domain of thyroid hormone receptors (TRs) is composed of two C4-type zinc fingers
  12. XM_011534051.1XP_011532353.1  

    See identical proteins and their annotated locations for XP_011532353.1

    Conserved Domains (2) summary
    cd06935
    Location:216458
    NR_LBD_TR; The ligand binding domain of thyroid hormone receptor, a members of a superfamily of nuclear receptors
    cd06961
    Location:106192
    NR_DBD_TR; DNA-binding domain of thyroid hormone receptors (TRs) is composed of two C4-type zinc fingers
  13. XM_011534052.1XP_011532354.1  

    See identical proteins and their annotated locations for XP_011532354.1

    Conserved Domains (2) summary
    cd06935
    Location:216458
    NR_LBD_TR; The ligand binding domain of thyroid hormone receptor, a members of a superfamily of nuclear receptors
    cd06961
    Location:106192
    NR_DBD_TR; DNA-binding domain of thyroid hormone receptors (TRs) is composed of two C4-type zinc fingers

Alternate CHM1_1.1

Genomic

  1. NC_018914.2 Alternate CHM1_1.1

    Range
    24110176..24487912
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)