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Aliases for THRA Gene

Aliases for THRA Gene

  • Thyroid Hormone Receptor, Alpha 2 3 5
  • Thyroid Hormone Receptor, Alpha (Erythroblastic Leukemia Viral (V-Erb-A) Oncogene Homolog, Avian) 2 3
  • Nuclear Receptor Subfamily 1 Group A Member 1 3 4
  • V-ErbA-Related Protein 7 3 4
  • C-ErbA-Alpha 3 4
  • C-ERBA-1 3 4
  • THRA1 3 4
  • ERBA1 3 4
  • THRA2 3 4
  • EAR-7 3 4
  • NR1A1 3 4
  • EAR7 3 4
  • Thyroid Hormone Receptor, Alpha (Avian Erythroblastic Leukemia Viral (V-Erb-A) Oncogene Homolog) 2
  • Thyroid Normone Nuclear Receptor Alpha Variant 1 3
  • Thyroid Hormone Receptor Alpha 1 3
  • Thyroid Hormone Receptor Alpha 3
  • Triiodothyronine Receptor 3
  • ERBA-Related 7 3
  • ERB-T-1 3
  • CHNG6 3
  • ERBA 3
  • AR7 3

External Ids for THRA Gene

Previous HGNC Symbols for THRA Gene

  • THRA1
  • THRA2
  • ERBA1

Previous GeneCards Identifiers for THRA Gene

  • GC17P037816
  • GC17M040309
  • GC17P038129
  • GC17P038595
  • GC17P038596
  • GC17P035472
  • GC17P038219
  • GC17P034012

Summaries for THRA Gene

Entrez Gene Summary for THRA 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. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

GeneCards Summary for THRA Gene

THRA (Thyroid Hormone Receptor, Alpha) is a Protein Coding gene. Diseases associated with THRA include Hypothyroidism, Congenital, Nongoitrous, 6 and Hypothyroidism, Congenital, Nongoitrous, 3. Among its related pathways are Transcription_Role of VDR in regulation of genes involved in osteoporosis and Development NOTCH1-mediated pathway for NF-KB activity modulation. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcription factor binding. An important paralog of this gene is THRB.

UniProtKB/Swiss-Prot for THRA Gene

  • Isoform Alpha-1: Nuclear hormone receptor that can act as a repressor or activator of transcription. High affinity receptor for thyroid hormones, including triiodothyronine and thyroxine.

  • Isoform Alpha-2: Does not bind thyroid hormone and functions as a weak dominant negative inhibitor of thyroid hormone action.

Gene Wiki entry for THRA Gene

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

Genomics for THRA Gene

Regulatory Elements for THRA Gene

Enhancers for THRA Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G040546 2.1 FANTOM5 Ensembl ENCODE dbSUPER 15.8 +498.8 498814 20.3 CREB3L1 MLX AGO1 ZFP64 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF263 CCR7 THRA TOP2A KRT222 IGFBP4 ENSG00000266088 KRTAP3-2 KRT34 GJD3 CASC3
GH17G039753 2 FANTOM5 Ensembl ENCODE dbSUPER 15.9 -301.7 -301696 7.1 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 YBX1 ZNF766 ZNF143 GSDMB ORMDL3 THRA IKZF3 KRT222 MED24 STARD3 FBXL20 CDK12 WIPF2
GH17G039208 1.8 FANTOM5 Ensembl ENCODE dbSUPER 15.8 -848.7 -848660 2.5 HDGF ZNF493 ZNF133 SIN3A FEZF1 GLIS2 FOS SMARCB1 MAFF SMARCA4 STAC2 THRA CACNB1 GC17P039212 RPL19
GH17G040442 1.7 FANTOM5 ENCODE dbSUPER 15.8 +386.0 385963 3.9 HDGF FOXA2 PKNOX1 ARNT CREB3L1 AGO1 ZFP64 SIN3A ARID4B ZNF2 MED1 CDK12 THRA TOP2A CCR7 SNORD124 KRT222 RARA ENSG00000266208 RARA-AS1
GH17G040470 1.5 Ensembl ENCODE dbSUPER 15.8 +415.5 415531 6.8 HDGF PKNOX1 ARNT SIN3A ZNF2 CBX5 ZNF143 FOS SP3 MCM3 THRA KRT222 SNORD124 CDC6 GC17P040474 GC17M040474
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around THRA on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the THRA gene promoter:

Genomic Location for THRA Gene

Chromosome:
17
Start:
40,058,290 bp from pter
End:
40,093,867 bp from pter
Size:
35,578 bases
Orientation:
Plus strand

Genomic View for THRA Gene

Genes around THRA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
THRA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for THRA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for THRA Gene

Proteins for THRA Gene

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

    Protein Symbol:
    P10827-THA_HUMAN
    Recommended name:
    Thyroid hormone receptor alpha
    Protein Accession:
    P10827
    Secondary Accessions:
    • A8K3B5
    • P21205
    • Q8N6A1
    • Q96H73

    Protein attributes for THRA Gene

    Size:
    490 amino acids
    Molecular mass:
    54816 Da
    Quaternary structure:
    • Binds DNA as a dimer; homodimer and heterodimer with RXRB. Interacts with NCOA3 and NCOA6 coactivators, leading to a strong increase of transcription of target genes. Probably interacts with SFPQ. Interacts with C1D. Interacts with AKAP13. Interacts with TP53INP2. Interacts with PER2.

    Three dimensional structures from OCA and Proteopedia for THRA Gene

    Alternative splice isoforms for THRA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for THRA Gene

Post-translational modifications for THRA Gene

  • Ubiquitination at Lys190
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for THRA Gene

Domains & Families for THRA Gene

Gene Families for THRA Gene

Suggested Antigen Peptide Sequences for THRA Gene

Graphical View of Domain Structure for InterPro Entry

P10827

UniProtKB/Swiss-Prot:

THA_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 THRA: view

Function for THRA Gene

Molecular function for THRA Gene

GENATLAS Biochemistry:
thyroid hormone receptor,alpha 1,ubiquitous,with two alternatively spliced isoforms THRA1,a hormone binding receptor and THRA2,not binding hormone but inhibiting THR transactivation,also encoding NR1D1 (alpha transcript) on the opposite strand (see symbol),steroid/thyroid hormone receptor superfamily
UniProtKB/Swiss-Prot Function:
Isoform Alpha-1: Nuclear hormone receptor that can act as a repressor or activator of transcription. High affinity receptor for thyroid hormones, including triiodothyronine and thyroxine.
UniProtKB/Swiss-Prot Function:
Isoform Alpha-2: Does not bind thyroid hormone and functions as a weak dominant negative inhibitor of thyroid hormone action.

Gene Ontology (GO) - Molecular Function for THRA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IEA --
GO:0002153 steroid receptor RNA activator RNA binding IEA --
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding IDA 8710870
GO:0003707 steroid hormone receptor activity IEA --
genes like me logo Genes that share ontologies with THRA: view
genes like me logo Genes that share phenotypes with THRA: view

Human Phenotype Ontology for THRA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for THRA Gene

MGI Knock Outs for THRA:

Animal Model Products

CRISPR Products

miRNA for THRA Gene

miRTarBase miRNAs that target THRA
Targeted motifs for THRA Gene
HOMER Transcription Factor Regulatory Elements motif THRA
  • Consensus sequence: GGTCANYTGAGGWCA Submotif: canonical Cell Type: C17.2 GEO ID: GSE38347

Inhibitory RNA Products

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

Localization for THRA Gene

Subcellular locations from UniProtKB/Swiss-Prot for THRA 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 THRA gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for THRA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 8710870
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA 19158403
genes like me logo Genes that share ontologies with THRA: view

Pathways & Interactions for THRA Gene

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

SIGNOR curated interactions for THRA Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for THRA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001502 cartilage condensation IEA --
GO:0001503 ossification IEA --
GO:0002155 regulation of thyroid hormone mediated signaling pathway IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with THRA: view

Drugs & Compounds for THRA Gene

(25) Drugs for THRA Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dextrothyroxine Approved Pharma Target, agonist 0
Liothyronine Approved, Vet_approved Pharma antagonist, Target, agonist 0
Levothyroxine Approved Pharma antagonist, Target, agonist 0
Liotrix Approved Pharma Target, agonist 0
Aspirin Approved, Vet_approved Pharma Channel blocker 1152

(6) Additional Compounds for THRA 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

(1) ApexBio Compounds for THRA Gene

Compound Action Cas Number
Sobetirome Agonist of tyroid hormone receptor 211110-63-3
genes like me logo Genes that share compounds with THRA: view

Drug Products

Transcripts for THRA Gene

Unigene Clusters for THRA Gene

Thyroid hormone receptor, alpha:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

No ASD Table

Relevant External Links for THRA Gene

GeneLoc Exon Structure for
THRA
ECgene alternative splicing isoforms for
THRA

Expression for THRA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for THRA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for THRA Gene

This gene is overexpressed in Adipocyte (68.5).

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



Protein tissue co-expression partners for THRA Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of THRA Gene:

THRA

SOURCE GeneReport for Unigene cluster for THRA Gene:

Hs.724

Evidence on tissue expression from TISSUES for THRA Gene

  • Nervous system(4.9)
  • Muscle(4.6)
  • Kidney(4.5)
  • Thyroid gland(3.5)
  • Heart(2.4)
  • Liver(2.2)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • face
  • head
  • hypothalamus
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • pharynx
  • pituitary gland
  • skull
  • thyroid
  • tongue
  • tooth
Thorax:
  • breast
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • intestine
  • 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 THRA: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for THRA Gene

Orthologs for THRA Gene

This gene was present in the common ancestor of chordates.

Orthologs for THRA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia THRA 35
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia THRA 34 35
  • 96.75 (n)
cow
(Bos Taurus)
Mammalia THRA 34 35
  • 96.67 (n)
rat
(Rattus norvegicus)
Mammalia Thra 34
  • 96.1 (n)
mouse
(Mus musculus)
Mammalia Thra 34 16 35
  • 95.93 (n)
oppossum
(Monodelphis domestica)
Mammalia THRA 35
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves THRA 34 35
  • 84.97 (n)
lizard
(Anolis carolinensis)
Reptilia THRA 35
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia thra 34
  • 79.98 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC397942 34
zebrafish
(Danio rerio)
Actinopterygii thrab 34 35
  • 79.34 (n)
thraa 35
  • 72 (a)
OneToMany
thra 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.164 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4364 35
  • 27 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6147 34
Species where no ortholog for THRA was found in the sources mined by GeneCards:
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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 THRA Gene

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

Paralogs for THRA Gene

Variants for THRA Gene

Sequence variations from dbSNP and Humsavar for THRA Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
VAR_074559 Hypothyroidism, congenital, non-goitrous, 6 (CHNG6) [MIM:614450]
VAR_074560 Hypothyroidism, congenital, non-goitrous, 6 (CHNG6) [MIM:614450]
rs137853162 Pathogenic 40,077,520(+) CCCTA(G/T)TTACC reference, missense
rs137853163 Pathogenic 40,089,333(+) ATGAA(C/G)GTGAC reference, missense
rs876657394 Pathogenic 40,089,399(+) GAGTG(A/C)CCCAC intron-variant, reference, stop-gained

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

Variant ID Type Subtype PubMed ID
nsv1126457 CNV deletion 24896259
nsv1127569 CNV deletion 24896259
nsv1146249 CNV insertion 26484159
nsv1146669 OTHER inversion 26484159
nsv833444 CNV loss 17160897

Variation tolerance for THRA Gene

Residual Variation Intolerance Score: 12.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.35; 7.83% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for THRA Gene

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

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

Disorders for THRA Gene

MalaCards: The human disease database

(7) MalaCards diseases for THRA Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypothyroidism, congenital, nongoitrous, 6
  • congenital hypothyroidism, nongoitrous 6
hypothyroidism, congenital, nongoitrous, 3
  • peripheral resistance to thyroid hormones
thyroid hormone resistance
  • thyroid hormone resistance syndrome
bone giant cell tumor
  • giant cell myeloma
hypothyroidism
  • thyroid deficiency
- elite association - COSMIC cancer census association via MalaCards
Search THRA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

THA_HUMAN
  • Hypothyroidism, congenital, non-goitrous, 6 (CHNG6) [MIM:614450]: A disease characterized by growth retardation, developmental retardation, skeletal dysplasia, borderline low thyroxine levels and high triiodothyronine levels. There is differential sensitivity to thyroid hormone action, with retention of hormone responsiveness in the hypothalamic pituitary axis and liver but skeletal, gastrointestinal, and myocardial resistance. {ECO:0000269 PubMed:22168587, ECO:0000269 PubMed:24969835, ECO:0000269 PubMed:25670821, ECO:0000269 PubMed:26037512}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for THRA Gene

hyperthyroxinemia,euthyroidal

Relevant External Links for THRA

Genetic Association Database (GAD)
THRA
Human Genome Epidemiology (HuGE) Navigator
THRA
Tumor Gene Database (TGDB):
THRA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
THRA
genes like me logo Genes that share disorders with THRA: view

Publications for THRA Gene

  1. Identification and consequences of polymorphisms in the thyroid hormone receptor alpha and beta genes. (PMID: 18844476) SA … Visser T.J. (Thyroid 2008) 3 22 46 64
  2. Genomic organization of the human thyroid hormone receptor alpha (c- erbA-1) gene. (PMID: 1850510) Laudet V. … Saule S. (Nucleic Acids Res. 1991) 3 4 22 64
  3. Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor I+ gene (THRA). (PMID: 25670821) Tylki-SzymaA8ska A. … Chrzanowska K.H. (J. Med. Genet. 2015) 3 4 64
  4. Resistance to thyroid hormone caused by a mutation in thyroid hormone receptor (TR)alpha1 and TRalpha2: clinical, biochemical, and genetic analyses of three related patients. (PMID: 24969835) Moran C. … Chatterjee K.K. (Lancet Diabetes Endocrinol. 2014) 3 4 64
  5. Study of thyroid hormone receptor alpha gene polymorphisms on Alzheimer's disease. (PMID: 19427062) Goumidi L. … Meirhaeghe A. (Neurobiol. Aging 2011) 3 46 64

Products for THRA Gene

Sources for THRA Gene

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