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. Alter... See more...

Aliases for THRA Gene

Aliases for THRA Gene

  • Thyroid Hormone Receptor Alpha 2 3 4 5
  • NR1A1 2 3 4
  • 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
  • ERBA1 3 4
  • THRA1 3 4
  • THRA2 3 4
  • EAR-7 3 4
  • EAR7 3 4
  • ERBA 2 3
  • AR7 2 3
  • 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
  • EAR-7.1/EAR-7.2 2
  • ERBA-Related 7 3
  • C-ERBA-1 3
  • C-ErbA-1 4
  • ERB-T-1 3
  • CHNG6 3
  • THRA3 2
  • THRA 5

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 Resistance To Thyroid Hormone Due To A Mutation In Thyroid Hormone Receptor Alpha. 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 transcription factor binding. An important paralog of this gene is THRB.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for THRA Gene

Genomics for THRA Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for THRA 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
GH17J040061 Promoter/Enhancer 2.8 VISTA EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 254.9 +11.0 11005 14.8 BCLAF1 MYC IKZF1 NCOR1 ZNF600 ZNF580 ZNF592 ZMYM3 KLF9 CEBPA THRA MED24 MSL1 MED1 SMARCE1 GSDMA CDK12 RAPGEFL1 PSMD3 RPL19
GH17J040058 Promoter/Enhancer 0.8 Ensembl ENCODE dbSUPER 250.7 +0.2 248 0.9 IRF2 ZNF664 THRA piR-43105-276 GSDMA MED24
GH17J040059 Enhancer 0.4 dbSUPER 250.7 +1.5 1502 0.9 ZNF341 ZBTB48 ZBTB17 MED24 THRA piR-43105-276
GH17J040056 Enhancer 0.3 dbSUPER 250.7 -1.5 -1511 1.1 PRDM10 THRA piR-43105-276 MED24 lnc-NR1D1-3 CSF3
GH17J040088 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.5 +37.1 37057 14.4 BCLAF1 SP1 NCOR1 ZNF600 MYC IKZF1 SIX5 SSRP1 JUND ZNF580 NR1D1 CDK12 MED1 MSL1 SMARCE1 MED24 STARD3 GSDMA CCR7 THRA
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the THRA gene promoter:
  • AP-1
  • p300
  • Sp1

Genomic Locations for THRA Gene

Latest Assembly
chr17:40,058,290-40,093,867
(GRCh38/hg38)
Size:
35,578 bases
Orientation:
Plus strand

Previous Assembly
chr17:38,218,446-38,250,120
(GRCh37/hg19 by Entrez Gene)
Size:
31,675 bases
Orientation:
Plus strand

chr17:38,214,543-38,250,120
(GRCh37/hg19 by Ensembl)
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. Isoform alpha-2 and isoform alpha-1 interact with TACC1, but the interaction with alpha-1 is weaker. The interaction with isoform alpha-1, but not alpha-2, is decreased in the presence of thyroid hormone T3 (PubMed:20078863).
    Miscellaneous:
    • [Isoform Alpha-2]: Does not bind thyroid hormone T3.

    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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibodies for research

No data available for DME Specific Peptides for THRA Gene

Domains & Families for THRA Gene

Gene Families for THRA 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 THRA Gene

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

Suggested Antigen Peptide Sequences for THRA Gene

GenScript: Design optimal peptide antigens:
  • Thyroid hormone receptor alpha (B6ZGR6_HUMAN)
  • Thyroid normone nuclear receptor alpha variant 1 (Q6FH41_HUMAN)
  • c-erbA-alpha (THA_HUMAN)

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

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.
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

Phenotypes From GWAS Catalog for THRA Gene

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 IDA 18052923
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IBA 21873635
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0003677 DNA binding IEA --
GO:0003700 DNA-binding transcription factor activity IDA 8710870
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:
  • Thra Thra<tm1Ven>
  • Thra Thra<tm1Jas>
  • Thra Thra<tm2Jas>
  • Thra Thra<tm1.1Fcas>
  • Thra Thra<tm1b(EUCOMM)Wtsi>
  • Thra Thra<tm2Ven>
  • Thra Thra<tm3Jas>
  • Thra Thra<tm4.1Ven>

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 RNAs for research

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

Clone products for research

  • Addgene plasmids for THRA

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.
[Isoform Alpha-2]: Cytoplasm. Nucleus. Note=When overexpressed found in the cytoplasm where it colocalizes with TACC1. {ECO:0000250 UniProtKB:P63058}.

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
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
peroxisome 2
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for THRA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin ISA --
GO:0005634 nucleus IEA,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

Pathways by source for THRA Gene

2 GeneGo (Thomson Reuters) pathways for THRA Gene
  • Transcription Sin3 and NuRD in transcription regulation
  • Transcription_Role of VDR in regulation of genes involved in osteoporosis

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:0000122 negative regulation of transcription by RNA polymerase II IBA 21873635
GO:0001502 cartilage condensation IEA --
GO:0001503 ossification IEA --
GO:0002154 thyroid hormone mediated signaling pathway IBA 21873635
GO:0002155 regulation of thyroid hormone mediated signaling pathway IEA --
genes like me logo Genes that share ontologies with THRA: view

Drugs & Compounds for THRA Gene

(26) 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, 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 Target, antagonist, binder 141
Dronedarone Approved Pharma Target, inhibitor 35

(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

(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 for research

Transcripts for THRA Gene

mRNA/cDNA for THRA Gene

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

Inhibitory RNAs for research

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

Clone products for research

  • Addgene plasmids for THRA

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

No ASD Table

Relevant External Links for THRA Gene

GeneLoc Exon Structure for
THRA

Expression for THRA Gene

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



Protein tissue co-expression partners for THRA Gene

- Elite partner

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

SOURCE GeneReport for Unigene cluster for THRA Gene:

Hs.724

Evidence on tissue expression from TISSUES for THRA Gene

  • Nervous system(5)
  • Muscle(4.7)
  • Kidney(4.5)
  • Thyroid gland(3.3)
  • Heart(2.7)
  • Liver(2.4)
  • Intestine(2.2)
  • Adrenal gland(2.2)
  • Skin(2.2)
  • Eye(2.1)
  • Stomach(2.1)

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
Regions:
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

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 30
  • 100 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia THRA 29 30
  • 96.75 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia THRA 29 30
  • 96.67 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Thra 29
  • 96.1 (n)
Mouse
(Mus musculus)
Mammalia Thra 29 16 30
  • 95.93 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia THRA 30
  • 87 (a)
OneToOne
Chicken
(Gallus gallus)
Aves THRA 29 30
  • 84.97 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia THRA 30
  • 91 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia thra 29
  • 79.98 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC397942 29
Zebrafish
(Danio rerio)
Actinopterygii thrab 29 30
  • 79.34 (n)
OneToMany
thraa 30
  • 72 (a)
OneToMany
thra 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.164 29
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.4364 30
  • 27 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.6147 29
Species where no ortholog for THRA 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)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for THRA: view image
Alliance of Genome Resources:
Additional Orthologs for THRA

Paralogs for THRA Gene

(24) SIMAP similar genes for THRA Gene using alignment to 6 proteins:

  • THA_HUMAN
  • J3KTF3_HUMAN
  • J3QR26_HUMAN
  • J3QRA9_HUMAN
  • J3QRW5_HUMAN
  • Q6FH41_HUMAN
genes like me logo Genes that share paralogs with THRA: view

Variants for THRA Gene

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

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
847657 Likely Pathogenic: not provided 40,086,771(+) C/G
NM_199334.5(THRA):c.641C>G (p.Ala214Gly)
MISSENSE
992628 Likely Pathogenic: Hypothyroidism, congenital, nongoitrous, 6 40,084,757(+) A/G
NM_199334.5(THRA):c.518A>G (p.Glu173Gly)
MISSENSE
rs118191745 Benign: not provided 40,084,747(+) A/G
NM_199334.5(THRA):c.508A>G (p.Ile170Val)
MISSENSE
rs1367628384 Likely Benign: not provided 40,084,680(+) G/A
NM_199334.5(THRA):c.441G>A (p.Lys147=)
SYNONYMOUS
rs137853162 Pathogenic: Hypothyroidism, congenital, nongoitrous, 6 40,077,520(+) G/T
NM_001190919.1(THRA):c.134G>T (p.Ser45Ile)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for THRA Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for THRA Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for THRA Gene

MalaCards: The human disease database

(16) MalaCards diseases for THRA Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

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 variants affecting the gene represented in this entry.

Genatlas disease for THRA Gene

hyperthyroxinemia,euthyroidal

Additional Disease Information for THRA

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

Publications for THRA Gene

  1. Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA). (PMID: 25670821) Tylki-Szymańska A … Chrzanowska KH (Journal of medical genetics 2015) 3 4 72
  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 22 40
  3. Genomic organization of the human thyroid hormone receptor alpha (c-erbA-1) gene. (PMID: 1850510) Laudet V … Saule S (Nucleic acids research 1991) 3 4 22
  4. Resistance to thyroid hormone caused by a mutation in thyroid hormone receptor (TR)α1 and TRα2: clinical, biochemical, and genetic analyses of three related patients. (PMID: 24969835) Moran C … Chatterjee KK (The lancet. Diabetes & endocrinology 2014) 3 4
  5. A mutation in the thyroid hormone receptor alpha gene. (PMID: 22168587) Bochukova E … Chatterjee K (The New England journal of medicine 2012) 4 72

Products for THRA Gene

  • Addgene plasmids for THRA

Sources for THRA Gene