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Aliases for THRB Gene

Aliases for THRB Gene

  • Thyroid Hormone Receptor, Beta 2 3
  • ERBA2 3 4 6
  • THR1 3 4 6
  • Thyroid Hormone Receptor, Beta (Erythroblastic Leukemia Viral (V-Erb-A) Oncogene Homolog 2, Avian) 2 3
  • Nuclear Receptor Subfamily 1 Group A Member 2 3 4
  • Oncogene ERBA2 2 3
  • C-ERBA-BETA 3 4
  • C-ERBA-2 3 4
  • NR1A2 3 4
  • PRTH 3 6
  • Thyroid Hormone Receptor, Beta (Avian Erythroblastic Leukemia Viral (V-Erb-A) Oncogene Homolog 2) 2
  • Avian Erythroblastic Leukemia Viral (V-Erb-A) Oncogene Homolog 2 2
  • Thyroid Hormone Nuclear Receptor Beta Variant 1 3
  • Generalized Resistance To Thyroid Hormone 2
  • Pituitary Resistance To Thyroid Hormone 2
  • Thyroid Hormone Receptor Beta 1 2
  • Thyroid Hormone Receptor Beta 3
  • THRB1 3
  • THRB2 3
  • GRTH 3

External Ids for THRB Gene

Previous HGNC Symbols for THRB Gene

  • ERBA2
  • PRTH

Previous GeneCards Identifiers for THRB Gene

  • GC03M023830
  • GC03M024013
  • GC03M024138
  • GC03M024139
  • GC03M024158
  • GC03M024104

Summaries for THRB Gene

Entrez Gene Summary for THRB Gene

  • 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]

GeneCards Summary for THRB Gene

THRB (Thyroid Hormone Receptor, Beta) is a Protein Coding gene. Diseases associated with THRB include thyroid hormone resistance, selective pituitary and thyroid hormone resistance. Among its related pathways are Gene Expression and Gene Expression. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and enzyme binding. An important paralog of this gene is NR1I2.

UniProtKB/Swiss-Prot for THRB Gene

  • Nuclear hormone receptor that can act as a repressor or activator of transcription. High affinity receptor for thyroid hormones, including triiodothyronine and thyroxine.

Gene Wiki entry for THRB Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for THRB Gene

Genomics for THRB Gene

Regulatory Elements for THRB Gene

Genomic Location for THRB Gene

Start:
24,117,153 bp from pter
End:
24,495,282 bp from pter
Size:
378,130 bases
Orientation:
Minus strand

Genomic View for THRB Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for THRB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for THRB Gene

Proteins for THRB Gene

  • Protein details for THRB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P10828-THB_HUMAN
    Recommended name:
    Thyroid hormone receptor beta
    Protein Accession:
    P10828
    Secondary Accessions:
    • B3KU79
    • P37243
    • Q13986
    • Q3KP35
    • Q6WGL2
    • Q9UD41

    Protein attributes for THRB Gene

    Size:
    461 amino acids
    Molecular mass:
    52788 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=AAA35677.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAA28412.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for THRB Gene

    Alternative splice isoforms for THRB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for THRB Gene

Proteomics data for THRB Gene at MOPED

Post-translational modifications for THRB Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for THRB Gene

Domains for THRB Gene

Gene Families for THRB Gene

HGNC:
  • NR :Nuclear hormone receptors
IUPHAR :

Suggested Antigen Peptide Sequences for THRB Gene

Graphical View of Domain Structure for InterPro Entry

P10828

UniProtKB/Swiss-Prot:

THB_HUMAN :
  • P10828
Domain:
  • Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-binding domain
  • Contains 1 nuclear receptor DNA-binding domain.
Family:
  • Belongs to the nuclear hormone receptor family. NR1 subfamily.
genes like me logo Genes that share domains with THRB: view

Function for THRB Gene

Molecular function for THRB Gene

GENATLAS Biochemistry: thyroid hormone receptor,beta,essential for inner ear development,steroid/thyroid hormone receptor superfamily
UniProtKB/Swiss-Prot Function: Nuclear hormone receptor that can act as a repressor or activator of transcription. High affinity receptor for thyroid hormones, including triiodothyronine and thyroxine.

Gene Ontology (GO) - Molecular Function for THRB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding TAS 1618799
GO:0003700 sequence-specific DNA binding transcription factor activity NAS 1618799
GO:0003707 steroid hormone receptor activity IEA --
GO:0003714 transcription corepressor activity TAS 1618799
GO:0004887 thyroid hormone receptor activity IDA 15466465
genes like me logo Genes that share ontologies with THRB: view
genes like me logo Genes that share phenotypes with THRB: view

Animal Models for THRB Gene

MGI Knock Outs for THRB:

miRNA for THRB Gene

miRTarBase miRNAs that target THRB

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for THRB Gene

Localization for THRB Gene

Subcellular locations from UniProtKB/Swiss-Prot for THRB Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for THRB Gene COMPARTMENTS Subcellular localization image for THRB gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for THRB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IEA --
GO:0005634 nucleus TAS 1618799
GO:0005654 nucleoplasm TAS --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with THRB: view

Pathways for THRB Gene

genes like me logo Genes that share pathways with THRB: view

Pathways by source for THRB Gene

Gene Ontology (GO) - Biological Process for THRB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0006351 transcription, DNA-templated TAS 1618799
GO:0006355 regulation of transcription, DNA-templated --
GO:0006357 regulation of transcription from RNA polymerase II promoter --
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
genes like me logo Genes that share ontologies with THRB: view

Compounds for THRB Gene

(1) HMDB Compounds for THRB Gene

Compound Synonyms Cas Number PubMed IDs
Liothyronine
  • 3,3',5-Triiodo-L-thyronine
6893-02-3

(7) IUPHAR Ligand for THRB Gene

Ligand Type Action Affinity Pubmed IDs
T3 Agonist Agonist 10
GC-1 Agonist Agonist 9.36
NH-3 Antagonist Antagonist 7.62
KB-141 Agonist Agonist 7.6
3,3,5-triiodothyroacetic acid Agonist Agonist
T4 Agonist Agonist
reverse triiodothyronine Agonist Agonist

(31) Novoseek inferred chemical compound relationships for THRB Gene

Compound -log(P) Hits PubMed IDs
prt-h 90.6 5
triiodothyroacetic acid 84.3 1
triiodothyronine 73.7 2
thyroxine 59.8 2
desethylamiodarone 58.9 3
genes like me logo Genes that share compounds with THRB: view

Transcripts for THRB Gene

Unigene Clusters for THRB Gene

Thyroid hormone receptor, beta:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for THRB Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b
SP1: -
SP2: -
SP3: - - -

Relevant External Links for THRB Gene

GeneLoc Exon Structure for
THRB
ECgene alternative splicing isoforms for
THRB

Expression for THRB Gene

mRNA expression in normal human tissues for THRB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for THRB Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (4.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for THRB Gene

SOURCE GeneReport for Unigene cluster for THRB Gene Hs.187861

genes like me logo Genes that share expressions with THRB: view

No data available for mRNA Expression by UniProt/SwissProt for THRB Gene

Orthologs for THRB Gene

This gene was present in the common ancestor of chordates.

Orthologs for THRB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia THRB 35
  • 99.71 (n)
  • 100 (a)
THRB 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia THRB 35
  • 90.41 (n)
  • 96.08 (a)
THRB 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia THRB 35
  • 95.23 (n)
  • 98.48 (a)
THRB 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Thrb 35
  • 90.6 (n)
  • 96.53 (a)
Thrb 16
Thrb 36
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia THRB 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia THRB 36
  • 66 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Thrb 35
  • 89.59 (n)
  • 96.31 (a)
chicken
(Gallus gallus)
Aves THRB 35
  • 88.32 (n)
  • 97.28 (a)
THRB 36
  • 97 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia THRB 36
  • 68 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC397734 35
tropical clawed frog
(Silurana tropicalis)
Amphibia thrb 35
  • 81.16 (n)
  • 92.8 (a)
zebrafish
(Danio rerio)
Actinopterygii thrb 35
  • 78.29 (n)
  • 91.01 (a)
thrb 36
  • 85 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4364 36
  • 27 (a)
OneToMany
Species with no ortholog for THRB:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for THRB Gene

ENSEMBL:
Gene Tree for THRB (if available)
TreeFam:
Gene Tree for THRB (if available)

Paralogs for THRB Gene

genes like me logo Genes that share paralogs with THRB: view

Variants for THRB Gene

Sequence variations from dbSNP and Humsavar for THRB Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs3456 -- 24,446,498(-) TGCAC(C/T)TTTGC intron-variant
rs15505 -- 24,119,175(+) AAGAA(A/G)CACTA utr-variant-3-prime
rs20345 -- 24,299,643(-) AAAAA(-/A)AGTTT intron-variant
rs20346 -- 24,299,498(-) GTCTG(C/G)ACCAA intron-variant
rs721215 -- 24,472,075(-) TAAGG(A/C)AAATG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for THRB Gene

Variant ID Type Subtype PubMed ID
nsv834639 CNV Gain 17160897
nsv3733 CNV Loss 18451855
nsv524922 CNV Loss 19592680
nsv876626 CNV Loss 21882294
nsv527561 CNV Loss 19592680
esv2677194 CNV Deletion 23128226
dgv278n21 CNV Loss 19592680
nsv528341 CNV Gain 19592680
esv2288146 CNV Deletion 18987734
esv2725043 CNV Deletion 23290073
dgv812e201 CNV Deletion 23290073
esv2725044 CNV Deletion 23290073
nsv834640 CNV Gain 17160897
esv7101 CNV Loss 19470904
esv271750 CNV Insertion 20981092
nsv522159 CNV Loss 19592680
nsv507088 CNV Insertion 20534489
esv2725045 CNV Deletion 23290073
esv2725046 CNV Deletion 23290073
dgv74n68 CNV Gain 17160897
nsv520648 CNV Loss 19592680

Relevant External Links for THRB Gene

HapMap Linkage Disequilibrium report
THRB
Human Gene Mutation Database (HGMD)
THRB

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for THRB Gene

Disorders for THRB Gene

(3) OMIM Diseases for THRB Gene (190160)

UniProtKB/Swiss-Prot

THB_HUMAN
  • Generalized 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). {ECO:0000269 PubMed:10660344, ECO:0000269 PubMed:1314846, ECO:0000269 PubMed:1324420, ECO:0000269 PubMed:1563081, ECO:0000269 PubMed:1587388, ECO:0000269 PubMed:1619012, ECO:0000269 PubMed:1653889, ECO:0000269 PubMed:1661299, ECO:0000269 PubMed:16804041, ECO:0000269 PubMed:1846005, ECO:0000269 PubMed:19268523, ECO:0000269 PubMed:2153155, ECO:0000269 PubMed:2510172, ECO:0000269 PubMed:7833659, ECO:0000269 PubMed:8175986, ECO:0000269 PubMed:8514853, ECO:0000269 PubMed:8664910, ECO:0000269 PubMed:8889584}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Generalized 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.
  • Selective 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. {ECO:0000269 PubMed:7528740, ECO:0000269 PubMed:8381821}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(19) Novoseek inferred disease relationships for THRB Gene

Disease -log(P) Hits PubMed IDs
thyroid hormone resistance 96.8 27
goiter 72.9 1
thyroid follicular carcinoma 71.3 5
follicular thyroid cancer 64.4 1
thyroid cancer 57.9 5

Relevant External Links for THRB

Genetic Association Database (GAD)
THRB
Human Genome Epidemiology (HuGE) Navigator
THRB
genes like me logo Genes that share disorders with THRB: view

Publications for THRB Gene

  1. Functional properties of a novel mutant thyroid hormone receptor in a family with generalized thyroid hormone resistance syndrome. (PMID: 1563081) Adams M. … Chatterjee V.K.K. (Clin. Endocrinol. (Oxf.) 1992) 3 4 23
  2. A point mutation in the 3,5,3'-triiodothyronine-binding domain of thyroid hormone receptor-beta associated with a family with generalized resistance to thyroid hormone. (PMID: 1619012) Shuto Y. … Okazaki T. (J. Clin. Endocrinol. Metab. 1992) 3 4 23
  3. Resistance to thyroid hormone in subjects from two unrelated families is associated with a point mutation in the thyroid hormone receptor beta gene resulting in the replacement of the normal proline 453 with serine. (PMID: 7833659) Refetoff S. … Hayashi Y. (Thyroid 1994) 3 4 23
  4. A new point mutation (C446R) in the thyroid hormone receptor-beta gene of a family with resistance to thyroid hormone. (PMID: 8175986) Weiss R.E. … Refetoff S. (J. Clin. Endocrinol. Metab. 1994) 3 4 23
  5. Genetic analysis of 29 kindreds with generalized and pituitary resistance to thyroid hormone. Identification of thirteen novel mutations in the thyroid hormone receptor beta gene. (PMID: 8040303) Adams M. … Chatterjee K.K. (J. Clin. Invest. 1994) 2 3 23

Products for THRB Gene

Sources for THRB Gene

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