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. Mutat... See more...

Aliases for THRB Gene

Aliases for THRB Gene

  • Thyroid Hormone Receptor Beta 2 3 4 5
  • NR1A2 2 3 4
  • THR1 2 3 4
  • 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
  • ERBA2 3 4
  • THRB1 2 3
  • THRB2 2 3
  • GRTH 2 3
  • 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 2
  • C-ERBA-BETA 3
  • C-ErbA-Beta 4
  • ERBA-BETA 2
  • C-ERBA-2 3
  • C-ErbA-2 4
  • PRTH 3
  • THRB 5

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, Generalized, Autosomal Dominant and Thyroid Hormone Resistance, Selective Pituitary. Among its related pathways are Thyroid hormone signaling pathway and Gene Expression. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and enzyme binding. An important paralog of this gene is THRA.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for THRB Gene

Genomics for THRB Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for THRB Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J024489 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 +2.3 2335 8 ARHGAP35 CEBPG HNRNPL CREB1 GATAD2A CTCF ATF7 TEAD4 PRDM10 ZNF629 THRB-AS1 THRB RPL15 ENSG00000272554 piR-50444-303 NKIRAS1
GH03J024502 Promoter/Enhancer 1.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 600.4 -8.8 -8836 4.1 CREB1 ATF7 ZNF629 RFX1 IKZF1 KDM1A JUND MTA2 PKNOX1 REST THRB ENSG00000272554 L13713-142 THRB-AS1 RARB
GH03J024448 Enhancer 1.1 Ensembl ENCODE 12.2 +43.5 43487 7.9 CEBPG GATAD2A ATF7 REST TFE3 SOX13 NFKBIZ RCOR2 RBFOX2 RXRB THRB THRB-IT1 RPL31P20 lnc-NR1D2-4 NKIRAS1
GH03J024376 Enhancer 1 Ensembl ENCODE 6.4 +118.8 118756 3.6 GATAD2A PRDM10 LEF1 FOXA1 GABPA MTA1 BRD9 DPF2 HDAC1 SOX6 THRB lnc-NR1D2-4 RPL31P20 piR-57176-462 NKIRAS1
GH03J024428 Enhancer 0.5 Ensembl 11.8 +67.2 67155 1.2 ZNF316 MAFF MAFK ZKSCAN1 CEBPG POLR2A ATF4 EMSY THRB RPL31P20 lnc-NR1D2-4 piR-57176-462 NKIRAS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around THRB on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for THRB

Top Transcription factor binding sites by QIAGEN in the THRB gene promoter:
  • Egr-2
  • Pax-4a
  • POU2F1
  • POU2F1a
  • Sp1

Genomic Locations for THRB Gene

Genomic Locations for THRB Gene
chr3:24,117,153-24,495,756
(GRCh38/hg38)
Size:
378,604 bases
Orientation:
Minus strand
chr3:24,158,644-24,536,773
(GRCh37/hg19)
Size:
378,130 bases
Orientation:
Minus strand

Genomic View for THRB Gene

Genes around THRB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
THRB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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. Interacts with TACC1; this interaction is decreased in the presence of thyroid hormone T3 (PubMed:20078863).
    SequenceCaution:
    • Sequence=AAA35677.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAA28412.1; Type=Erroneous initiation; Note=Truncated N-terminus.; 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

Post-translational modifications for THRB Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for THRB Gene

Domains & Families for THRB Gene

Gene Families for THRB Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • FDA approved drug targets
  • Nuclear receptors
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for THRB Gene

InterPro:
Blocks:
  • Steroid hormone receptor signature
  • Thyroid hormone receptor signature
ProtoNet:

Suggested Antigen Peptide Sequences for THRB Gene

GenScript: Design optimal peptide antigens:
  • Thyroid hormone receptor beta isoform (B6ZGR7_HUMAN)
  • Truncated thyroid hormone receptor beta 1 variant IVS4B (E0XAW8_HUMAN)
  • Thyroid hormone nuclear receptor beta variant 1 (F1D8N7_HUMAN)
  • c-erbA-beta (THB_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P10828

UniProtKB/Swiss-Prot:

THB_HUMAN :
  • Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-binding domain.
  • Belongs to the nuclear hormone receptor family. NR1 subfamily.
Domain:
  • Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-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

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.
GENATLAS Biochemistry:
thyroid hormone receptor,beta,essential for inner ear development,steroid/thyroid hormone receptor superfamily

Phenotypes From GWAS Catalog for THRB Gene

Gene Ontology (GO) - Molecular Function for THRB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IBA --
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IBA 21873635
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0003677 DNA binding IEA,TAS 1618799
GO:0003700 DNA-binding transcription factor activity IEA,NAS 1618799
genes like me logo Genes that share ontologies with THRB: view
genes like me logo Genes that share phenotypes with THRB: view

Human Phenotype Ontology for THRB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for THRB Gene

MGI Knock Outs for THRB:

Animal Model Products

CRISPR Products

miRNA for THRB Gene

miRTarBase miRNAs that target THRB
Targeted motifs for THRB Gene
HOMER Transcription Factor Regulatory Elements motif THRB
  • Consensus sequence: TRAGGTCA Submotif: canonical Cell Type: Liver GEO ID: GSE52613

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for THRB

Clone Products

  • Addgene plasmids for THRB

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targets for THRB Gene

Localization for THRB Gene

Subcellular locations from UniProtKB/Swiss-Prot for THRB Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for THRB gene
Compartment Confidence
nucleus 5
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
peroxisome 2
cytosol 2
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for THRB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0016604 nuclear body IDA --
GO:0042025 host cell nucleus IEA --
genes like me logo Genes that share ontologies with THRB: view

Pathways & Interactions for THRB Gene

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

Pathways by source for THRB Gene

1 GeneGo (Thomson Reuters) pathway for THRB Gene
  • Transcription_Role of VDR in regulation of genes involved in osteoporosis
1 R&D Systems pathway for THRB Gene

SIGNOR curated interactions for THRB Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for THRB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IBA 21873635
GO:0002154 thyroid hormone mediated signaling pathway IBA 21873635
GO:0006351 transcription, DNA-templated TAS 1618799
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA --
genes like me logo Genes that share ontologies with THRB: view

Drugs & Compounds for THRB Gene

(43) Drugs for THRB Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dextrothyroxine Approved, Investigational Pharma Target, agonist 0
Liothyronine Approved, Vet_approved Pharma Target, agonist, antagonist 0
Levothyroxine Approved Pharma Target, agonist, antagonist 0
Amiodarone Approved, Investigational Pharma Pore Blocker, Target, antagonist, binder 138
Liotrix Approved Pharma Target, agonist 0

(14) Additional Compounds for THRB Gene - From: IUPHAR and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3,3',5-triiodothyroacetic acid
Agonist
reverse triiodothyronine
Agonist
T3
Agonist
T4
Agonist

(4) ApexBio Compounds for THRB Gene

Compound Action Cas Number
Aminothiazole 96-50-4
Liothyronine Sodium 1955-06-1
Sobetirome Agonist of tyroid hormone receptor 211110-63-3
Tiratricol 51-24-1
genes like me logo Genes that share compounds with THRB: view

Drug Products

Transcripts for THRB Gene

mRNA/cDNA for THRB Gene

18 REFSEQ mRNAs :
36 NCBI additional mRNA sequence :
19 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for THRB

Clone Products

  • Addgene plasmids for THRB

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

Expression for THRB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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) (x4.2).

Protein differential expression in normal tissues from HIPED for THRB Gene

This gene is overexpressed in Platelet (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for THRB Gene



Protein tissue co-expression partners for THRB Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for THRB

SOURCE GeneReport for Unigene cluster for THRB Gene:

Hs.187861

Evidence on tissue expression from TISSUES for THRB Gene

  • Nervous system(4.8)
  • Kidney(4.5)
  • Thyroid gland(3.5)
  • Liver(2.8)
  • Muscle(2.4)
  • Heart(2.4)
  • Skin(2.4)
  • Blood(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for THRB Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • head
  • hypothalamus
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • pharynx
  • pituitary gland
  • skull
  • thyroid
  • tongue
  • tooth
Thorax:
  • breast
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • adrenal gland
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
Pelvis:
  • ovary
  • pelvis
  • rectum
  • urinary bladder
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • sweat gland
  • vertebrae
genes like me logo Genes that share expression patterns 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 30 31
  • 99.71 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia THRB 30 31
  • 95.23 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Thrb 30 17 31
  • 90.6 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia THRB 30 31
  • 90.41 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Thrb 30
  • 89.59 (n)
Oppossum
(Monodelphis domestica)
Mammalia THRB 31
  • 88 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia THRB 31
  • 66 (a)
OneToOne
Chicken
(Gallus gallus)
Aves THRB 30 31
  • 88.32 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia THRB 31
  • 68 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia thrb 30
  • 81.16 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC397734 30
Zebrafish
(Danio rerio)
Actinopterygii thrb 30 31
  • 78.29 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.4364 31
  • 27 (a)
OneToMany
Species where no ortholog for THRB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for THRB: view image

Paralogs for THRB Gene

(36) SIMAP similar genes for THRB Gene using alignment to 8 proteins:

  • THB_HUMAN
  • C9JHC2_HUMAN
  • C9JJM3_HUMAN
  • C9JNQ4_HUMAN
  • C9JTN1_HUMAN
  • C9JZS5_HUMAN
  • E0XAW8_HUMAN
  • J3KR21_HUMAN
genes like me logo Genes that share paralogs with THRB: view

Variants for THRB Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for THRB Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
721104 Benign: not provided 24,190,195(-) C/T SYNONYMOUS_VARIANT
723156 Benign: not provided 24,190,182(-) T/C MISSENSE_VARIANT
725493 Benign: not provided 24,190,213(-) C/T SYNONYMOUS_VARIANT
749802 Likely Benign: not provided 24,190,282(-) G/A SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
754330 Likely Benign: not provided 24,190,228(-) T/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for THRB Gene

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

Variant ID Type Subtype PubMed ID
dgv278n21 CNV loss 19592680
dgv74n68 CNV gain 17160897
dgv765e201 CNV deletion 23290073
esv2288146 CNV deletion 18987734
esv2677194 CNV deletion 23128226
esv2725043 CNV deletion 23290073
esv2725044 CNV deletion 23290073
esv2725045 CNV deletion 23290073
esv2725046 CNV deletion 23290073
esv3307476 CNV mobile element insertion 20981092
esv3384500 CNV duplication 20981092
esv3394628 CNV insertion 20981092
esv3568649 CNV loss 25503493
esv3595571 CNV loss 21293372
esv3595572 CNV loss 21293372
esv3595574 CNV loss 21293372
esv3595575 CNV loss 21293372
esv3595578 CNV loss 21293372
esv3595579 CNV loss 21293372
esv7101 CNV loss 19470904
nsv1012975 CNV gain 25217958
nsv3733 CNV deletion 18451855
nsv476876 CNV novel sequence insertion 20440878
nsv507088 OTHER sequence alteration 20534489
nsv520648 CNV loss 19592680
nsv522159 CNV loss 19592680
nsv524922 CNV loss 19592680
nsv527561 CNV loss 19592680
nsv528341 CNV gain 19592680
nsv834639 CNV gain 17160897
nsv834640 CNV gain 17160897
nsv999384 CNV gain 25217958

Variation tolerance for THRB Gene

Residual Variation Intolerance Score: 34.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.64; 13.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for THRB Gene

Human Gene Mutation Database (HGMD)
THRB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
THRB

SNP Genotyping and Copy Number Assay Products

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

Disorders for THRB Gene

MalaCards: The human disease database

(25) MalaCards diseases for THRB Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

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:12511610, ECO:0000269 PubMed:12554782, ECO:0000269 PubMed:1314846, ECO:0000269 PubMed:1324420, ECO:0000269 PubMed:1563081, ECO:0000269 PubMed:1587388, ECO:0000269 PubMed:1619012, 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. {ECO:0000269 PubMed:1653889}. 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.

Additional Disease Information for THRB

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with THRB: view

No data available for Genatlas for THRB Gene

Publications for THRB Gene

  1. Genotyping of resistance to thyroid hormone in South American population. Identification of seven novel missense mutations in the human thyroid hormone receptor beta gene. (PMID: 19268523) Rivolta CM … Targovnik HM (Molecular and cellular probes 2009) 3 4 23
  2. Identification and consequences of polymorphisms in the thyroid hormone receptor alpha and beta genes. (PMID: 18844476) Sørensen HG … Visser TJ (Thyroid : official journal of the American Thyroid Association 2008) 3 23 41
  3. Multiple messenger ribonucleic acid variants regulate cell-specific expression of human thyroid hormone receptor beta1. (PMID: 15105435) Frankton S … Williams GR (Molecular endocrinology (Baltimore, Md.) 2004) 3 4 23
  4. Thyroid hormone receptors/THR genes in human cancer. (PMID: 12668276) González-Sancho JM … Muñoz A (Cancer letters 2003) 3 23 26
  5. T426I a new mutation in the thyroid hormone receptor beta gene in a sporadic patient with resistance to thyroid hormone and dysmorphism. Mutations in brief no. 192. Online. (PMID: 10660344) Menzaghi C … De Filippis V (Human mutation 1998) 3 4 23

Products for THRB Gene

Sources for THRB Gene