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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
  • 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 peripheral resistance to thyroid hormones. Among its related pathways are Gene Expression and Endochondral Ossification. 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 NR4A2.

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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for THRA Gene

Genomics for THRA Gene

Regulatory Elements for THRA Gene

Promoters for THRA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs 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

Proteomics data for THRA Gene at MOPED

Post-translational modifications for THRA Gene

  • Ubiquitination at Lys 190
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for THRA (TR alpha/NR1A1)

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.
  • 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 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:0003700 transcription factor activity, sequence-specific DNA binding IEA,IDA 8710870
GO:0032403 protein complex binding IEA --
GO:0042803 protein homodimerization activity IEA --
GO:0044212 transcription regulatory region DNA binding IDA 18052923
GO:0070324 thyroid hormone binding IPI 2879243
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

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

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
Jensen Localization Image for THRA Gene COMPARTMENTS Subcellular localization image for THRA gene
Compartment Confidence
cytosol 5
nucleus 5
mitochondrion 3
cytoskeleton 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for THRA Gene

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:0001889 liver development IEA --
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0008016 regulation of heart contraction IEA --
GO:0008050 female courtship behavior IEA --
GO:0009409 response to cold IEA --
genes like me logo Genes that share ontologies with THRA: view

Drugs & Compounds for THRA Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dextrothyroxine Approved Pharma Target, agonist 0
Liothyronine Approved Pharma antagonist, Target, agonist 0
Levothyroxine Approved Pharma antagonist, Target, agonist 0
Liotrix Approved Pharma Target, agonist 0
Aspirin Approved Pharma Channel blocker 1029

(7) 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
genes like me logo Genes that share compounds with THRA: view

Transcripts for THRA Gene

Unigene Clusters for THRA Gene

Thyroid hormone receptor, alpha:
Representative Sequences:

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 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



SOURCE GeneReport for Unigene cluster for THRA Gene Hs.724

genes like me logo Genes that share expression patterns with THRA: view

Protein tissue co-expression partners for THRA Gene

- Elite partner

Primer Products

In Situ Assay 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 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia THRA 36
  • 93 (a)
OneToOne
THRA 35
  • 96.67 (n)
  • 99.19 (a)
dog
(Canis familiaris)
Mammalia THRA 35
  • 96.75 (n)
  • 99.76 (a)
THRA 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Thra 36
  • 91 (a)
OneToOne
Thra 16
Thra 35
  • 95.93 (n)
  • 99.27 (a)
oppossum
(Monodelphis domestica)
Mammalia THRA 36
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Thra 35
  • 96.1 (n)
  • 99.27 (a)
chicken
(Gallus gallus)
Aves THRA 36
  • 81 (a)
OneToOne
THRA 35
  • 84.97 (n)
  • 90.44 (a)
lizard
(Anolis carolinensis)
Reptilia THRA 36
  • 91 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC397942 35
tropical clawed frog
(Silurana tropicalis)
Amphibia thra 35
  • 79.98 (n)
  • 88.48 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.164 35
zebrafish
(Danio rerio)
Actinopterygii thra 35
thrab 35
  • 79.34 (n)
  • 86.67 (a)
thraa 36
  • 72 (a)
OneToMany
thrab 36
  • 75 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6147 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4364 36
  • 27 (a)
OneToMany
Species with no ortholog for THRA:
  • 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

Paralogs for THRA Gene

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

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)
VAR_074560 Hypothyroidism, congenital, non-goitrous, 6 (CHNG6)
rs939345 -- 40,061,097(-) CTTGG(A/G)ATTGG upstream-variant-2KB
rs1467258 -- 40,060,234(+) AGATG(A/G)GGCAA upstream-variant-2KB
rs939348 -- 40,075,600(+) TGTGC(C/T)TAATG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv908221 CNV Loss 21882294
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

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

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

Disorders for THRA Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
hypothyroidism, congenital, nongoitrous, 6
  • congenital hypothyroidism, nongoitrous 6
peripheral resistance to thyroid hormones
hypothyroidism
  • thyroid deficiency
thyroid hormone resistance
  • thyroid hormone resistance syndrome
hyperthyroxinemia
- 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. 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 23 67
  2. Expression of thyroid hormone receptor alpha in 3T3-L1 adipocytes; triiodothyronine increases the expression of lipogenic enzyme and triglyceride accumulation. (PMID: 15283690) Jiang W. … Hashizume K. (J. Endocrinol. 2004) 23 25 26
  3. Triiodothyronine affects the alternative splicing of thyroid hormone receptor alpha mRNA. (PMID: 14596673) Timmer D.C. … Wiersinga W.M. (J. Endocrinol. 2003) 23 25 26
  4. Resistance to thyroid hormone due to a novel thyroid hormone receptor mutant in a patient with hypothyroidism secondary to lingual thyroid and functional characterization of the mutant receptor. (PMID: 20615127) Nakajima Y. … Mori M. (Thyroid 2010) 25 26
  5. Subcutaneous fat shows higher thyroid hormone receptor-alpha1 gene expression than omental fat. (PMID: 19360007) Ortega F.J. … FernA!ndez-Real J.M. (Obesity (Silver Spring) 2009) 3 23

Products for THRA Gene

Sources for THRA Gene

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