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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

THRA Gene

protein-coding   GIFtS: 66
GCID: GC17P038219

thyroid hormone receptor, alpha

(Previous names: thyroid hormone receptor, alpha (avian erythroblastic leukemia...)
(Previous symbols: THRA1, THRA2, ERBA1)
 Explore 37 diseases affiliated with
THRA via our new
 Human Malady Compendium 
Biological research products
for THRA
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Thyroid Hormone Receptor, Alpha1 2     V-ErbA-Related Protein 72 3
ERBA11 2 3 5     EAR-7.1/EAR-7.21
THRA11 2 3 5     THRA31
NR1A11 2 3     Thyroid Hormone Receptor, Alpha (Avian Erythroblastic Leukemia Viral (V-Erb-A)
Oncogene Homolog)1
THRA21 2 3     CHNG62
AR71 2     ERB-T-12
ERBA1 2     C-ERBA-11
Thyroid Hormone Receptor, Alpha (Erythroblastic Leukemia Viral (V-Erb-A)
Oncogene Homolog, Avian)1 2
     ERBA-Related 72
Nuclear Receptor Subfamily 1 Group A Member 12 3     Thyroid Hormone Receptor Alpha2
EAR-72 3     Thyroid Normone Nuclear Receptor Alpha Variant 12
EAR72 3     Triiodothyronine Receptor2
C-ErbA-Alpha1     C-ErbA-11

External Ids:    HGNC: 117961   Entrez Gene: 70672   Ensembl: ENSG000001263517   OMIM: 1901205   UniProtKB: P108273   

Export aliases for THRA gene to outside databases

Previous GC identifers: GC17P037816 GC17M040309 GC17P038129 GC17P038595 GC17P038596 GC17P035472 GC17P034012


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for THRA:
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)

UniProtKB/Swiss-Prot: THA_HUMAN, P10827
Function: Nuclear hormone receptor. High affinity receptor for triiodothyronine

Gene Wiki entry for THRA (Thyroid hormone receptor alpha)


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  NT_010783.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the THRA gene promoter:
         Sp1   AP-1   p300   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): THRA promoter sequence
   Search SABiosciences Chromatin IP Primers for THRA

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat THRA


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q11.2   Ensembl cytogenetic band:  17q21.1   HGNC cytogenetic band: 17q21.1

THRA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
THRA gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P038219:  view genomic region     (about GC identifiers)

Start:
38,214,543 bp from pter      End:
38,250,120 bp from pter
Size:
35,578 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: THA_HUMAN, P10827 (See protein sequence)
Recommended Name: Thyroid hormone receptor alpha  
Size: 490 amino acids; 54816 Da
Subunit: Interacts with NCOA3 and NCOA6 coactivators, leading to a strong increase of transcription of target genes.
Probably interacts with SFPQ. Interacts with C1D (By similarity). Interacts with AKAP13. Interacts with TP53INP2
Subcellular location: Nucleus
6 PDB 3D structures from and Proteopedia for THRA:
1NAV (3D)        2H77 (3D)        2H79 (3D)        3HZF (3D)        3ILZ (3D)        3JZB (3D)    
Secondary accessions: A8K3B5 P21205 Q8N6A1 Q96H73
Alternative splicing: 4 isoforms:  P10827-1   P10827-2   P10827-3   P10827-4   

Explore the universe of human proteins at neXtProt for THRA: NX_P10827

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P10827

  • THRA Protein expression data from MOPED and PaxDb:    About this image 
    THRA Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001177847.1  NP_001177848.1  NP_003241.2  NP_955366.1  

    ENSEMBL proteins: 
     ENSP00000464013   ENSP00000462955   ENSP00000464123   ENSP00000377679   ENSP00000463466  
     ENSP00000264637   ENSP00000395641   ENSP00000443972   ENSP00000464414  
    Reactome Protein details: P10827
    Human Recombinant Protein Products for THRA: 
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    OriGene Purified Proteins (see all 2): THRA
    OriGene Protein Over-expression Lysate: THRA
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    Novus Biologicals THRA Proteins
    Novus Biologicals THRA Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA8710870
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm ----
    GO:0005829cytosol IDA19158403

    THRA for ontologies           About GeneDecksing



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    Browse ELISAs and CLIAs at Uscn


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    THRA for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR013088 Znf_NHR/GATA
     IPR008946 Nucl_hormone_rcpt_ligand-bd
     IPR000536 Nucl_hrmn_rcpt_lig-bd_core
     IPR001628 Znf_hrmn_rcpt
     IPR001723 Str_hrmn_rcpt

    Graphical View of Domain Structure for InterPro Entry P10827

    ProtoNet protein and cluster: P10827

    2 Blocks protein families:
    IPB001723 Steroid hormone receptor signature
    IPB001728 Thyroid hormone receptor signature


    UniProtKB/Swiss-Prot: THA_HUMAN, P10827
    Domain: Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-binding
    domain
    Similarity: Belongs to the nuclear hormone receptor family. NR1 subfamily
    Similarity: Contains 1 nuclear receptor DNA-binding domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: THA_HUMAN, P10827
    Function: Nuclear hormone receptor. High affinity receptor for triiodothyronine

         Genatlas biochemistry entry for THRA:
    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

         Gene Ontology (GO): 5/16 molecular function terms (GO ID links to tree view) (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002153steroid receptor RNA activator RNA binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity IDA18052923
    GO:0003707steroid hormone receptor activity IEA--
    GO:0003727single-stranded RNA binding ----
    GO:0004879ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity ----
         
    THRA for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for THRA:
     Decreased G3BP1 protein expres  Synthetic lethal with Ras 

         15/23 MGI mutant phenotypes (inferred from 11 alleles(MGI details for Thra) (see all 23):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  craniofacial 
     digestive/alimentary  endocrine/exocrine gland  growth/size  hearing/vestibular/ear  hematopoietic system 
     homeostasis/metabolism  immune system  integument  limbs/digits/tail  liver/biliary system 

    THRA for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-outs for THRA: Thratm3Jas Thratm1.1Fcas Thratm1Ven Thratm2Ven
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for THRA 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat THRA
    8/54 QIAGEN miScript miRNA Assays for microRNAs that regulate THRA (see all 54):
    hsa-miR-549 hsa-miR-106a hsa-miR-4272 hsa-miR-765 hsa-miR-128 hsa-miR-138-2* hsa-miR-519a hsa-miR-4267
    SwitchGear 3'UTR luciferase reporter plasmidTHRA 3' UTR sequence
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for THRA


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Transcription_Sin3 and NuRD in transcription regulation
    Transcription_Sin3 and NuRD in transcription regulation1.00
    Transcription Sin3 and NuRD in transcription regulation0.96
    2Transcription_Role of VDR in regulation of genes involved in osteoporosis
    Transcription_Role of VDR in regulation of genes involved in osteoporosis1.00
    Transcription Role of VDR in regulation of genes involved in osteoporosis0.80
    3Nuclear Receptor transcription pathway
    Nuclear Receptor transcription pathway1.00
    Nuclear Receptors0.68
    4Generic Transcription Pathway
    Generic Transcription Pathway1.00
    Gene Expression0.46
    5Endochondral Ossification
    Endochondral Ossification1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    2 EMD Millipore Pathways for THRA
        Transcription Role of VDR in regulation of genes involved in osteoporosis
    Transcription Sin3 and NuRD in transcription regulation


    2 GeneGo (Thomson Reuters) Pathways for THRA
        Transcription Sin3 and NuRD in transcription regulation
    Transcription Role of VDR in regulation of genes involved in osteoporosis

    2 BioSystems Pathways for THRA 
        Nuclear Receptors
    Endochondral Ossification

    3        Reactome Pathways for THRA
        Generic Transcription Pathway
    Nuclear Receptor transcription pathway
    Gene Expression


    1         Kegg Pathway  (Kegg details for THRA):
        Neuroactive ligand-receptor interaction


    THRA for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for THRA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/109 Interacting proteins for THRA (P108271, 3 ENSP000002646374) via UniProtKB, MINT, STRING, and/or I2D (see all 109)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MED1Q156481, 3, ENSP000003006514EBI-286285,EBI-394459 I2D: score=5 STRING: ENSP00000300651
    CDK7P506133, ENSP000002564434I2D: score=4 STRING: ENSP00000256443
    MED21Q135033, ENSP000002828924I2D: score=4 STRING: ENSP00000282892
    MED8Q96G253, ENSP000002906634I2D: score=2 STRING: ENSP00000290663
    NR2F1P105893, ENSP000003258194I2D: score=2 STRING: ENSP00000325819
    About this table

    Gene Ontology (GO): 5/25 biological process terms (GO ID links to tree view) (see all 25):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001502cartilage condensation IEA--
    GO:0001503ossification IEA--
    GO:0002155regulation of thyroid hormone mediated signaling pathway IEA--
    GO:0006357regulation of transcription from RNA polymerase II promoter IDA18052923
    GO:0006366transcription from RNA polymerase II promoter IDA8710870

    THRA for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    THRA for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for THRA

    1 HMDB Compound for THRA    About this table
    CompoundSynonyms CAS #PubMed Ids
    Liothyronine3,3',5-Triiodo-L-thyronine (see all 20)6893-02-3--

    5 DrugBank Compounds for THRA    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Liotrix-- 8065-29-0targetagonist15283690 15240882 12955882 20615127 17139284 14596673 11752352 17016423 17315033 15235154
    Dextrothyroxine-- 51-49-0targetagonist15283690 15240882 12955882 14596673 17315033 15235154
    LiothyronineL-Liothyronine (see all 5)6893-02-3targetagonist15283690 15240882 12955882 14596673 11752352 15235154
    Levothyroxine(-)-Thyroxine (see all 13)51-48-9targetagonist20615127 17139284 11752352 17016423 17315033
    3,5-Dichloro-4-[(4-Hydroxy-3-Isopropylphenoxy)Phenylacetic Acid-- --target--10592235

    10/11 Novoseek chemical compound relationships for THRA gene (see all 11)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    triiodothyronine 77.5 8 16832786 (2), 2158465 (1), 14596673 (1), 14656206 (1) (see all 7)
    retinoic acid 64.5 20 1347914 (1), 8253072 (1), 8455948 (1), 9727048 (1) (see all 14)
    thyroxine 48.6 1 14596673 (1)
    estrogen 25.3 8 11378852 (2), 9824153 (1), 11687272 (1), 19034372 (1) (see all 6)
    vitamin d 15.7 5 1850510 (1), 19034372 (1), 9287395 (1)
    zinc 13.5 3 11501753 (1), 1954886 (1), 11290385 (1)
    oligonucleotide 0 2 8062948 (1), 15585599 (1)
    estradiol 0 1 12624541 (1)
    glucose 0 1 19636322 (1)
    progesterone 0 2 12624541 (2)

    Search CenterWatch for drugs/clinical trials and news about THRA / THA 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for THRA gene (4 alternative transcripts): 
    NM_001190918.1  NM_001190919.1  NM_003250.5  NM_199334.3  

    Unigene Cluster for THRA:

    Thyroid hormone receptor, alpha
    Hs.724  [show with all ESTs]
    Unigene Representative Sequence: AB209346
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000577288 ENST00000585047 ENST00000578218 ENST00000394121(uc021twy.1)
    ENST00000584985(uc002htx.3) ENST00000264637(uc002htw.3) ENST00000450525(uc002htv.3)
    ENST00000546243(uc010cwp.1) ENST00000577486 ENST00000577637

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    Additional cDNA sequence: 

    AB209346.1 AB307686.1 AF522368.1 AK290071.1 AK290530.1 AK311344.1 BC000261.1 BC002728.2 
    BC035137.1 BC062421.1 CR541915.1 HQ692859.1 J03239.1 M24899.1 M24900.1 X55005.1 
    Y00479.1 

    21 DOTS entries:

    DT.118297  DT.118299  DT.100807968  DT.95378840  DT.87015530  DT.95251994  DT.91758665  DT.75124373 
    DT.97847061  DT.91758657  DT.100740261  DT.99953623  DT.100031087  DT.120980017  DT.87015531  DT.91740668 
    DT.100665357  DT.100783912  DT.120980106  DT.91937029  DT.92036477 

    24/294 AceView cDNA sequences (see all 294):

    CA389910 BU737865 CR596083 BQ050643 AF522368 BC002728 CA454666 NM_003250 
    F02406 CR541915 BC000261 BC062421 AL043801 BG152611 AL047482 BQ672969 
    BQ529293 BM706074 F09846 BF197234 BM907134 BC035137 CD671434 BM700063 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    THRA expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCTGTATCCC
    THRA Expression
    About this image
    See THRA Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for THRA

    SOURCE GeneReport for Unigene cluster: Hs.724
        SABiosciences Expression via Pathway-Focused PCR Array including THRA: 

              Nuclear Receptors & Coregulators in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for THRA gene from 4/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves THRA1 thyroid hormone receptor, alpha 84.97(n)
    90.44(a)
      396251  NM_205313.1  NP_990644.1 
    lizard
    (Anolis carolinensis)
    Reptilia THRA6
    --
    85(a)
    1 ↔ 1
    6(69290255-69322354)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3979422 Xenopus laevis thyroid hormone receptor alpha A mRNA, more 84.62(n)    M35343.1 
    zebrafish
    (Danio rerio)
    Actinopterygii thra2 thyroid hormone receptor alpha 80.52(n)   30670  NM_131396.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for THRA gene
    VDR2  NR4A32  NR4A12  NR1I22  RARG2  NR1I32  THRB2  RARA2  
    NR1H22  NR4A22  NR1H42  RARB2  NR1H32  
    18/26 SIMAP similar genes for THRA using alignment to 6 protein entries:     THA_HUMAN (see all proteins) (see all similar genes):
    NR1A1    THRB    NR1A2    HNF4G    ESR1    NR3C2
    HNF4alpha    VDR    NR1I3    NR1H3    BCOR-RARA    NR1B3
    RARA    RARG    PML-RAR    ESRRA    NR1B2    RARB

    THRA for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/557 NCBI SNPs in THRA are shown (see all 557    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs116551151,2
    C,H--34010550(+) ccttcC/Tctacc 1 -- us2k1 trp30--------
    rs348671531,2
    C,F--34010917(+) TAGGGC/TCTTGC 4 -- us2k18Minor allele frequency- T:0.25NA WA CSA 250
    rs728347981,2
    C,F--34011080(+) AGTATA/GAATGT 4 -- us2k11Minor allele frequency- G:0.11NA 120
    rs9393451,2
    C,F,A,H--34011131(-) CTTGGG/AATTGG 4 -- us2k1 tfbs39Minor allele frequency- A:0.02NS EA NA 1076
    rs620652151,2
    --34011540(+) CAAGAG/AAGGTA 4 -- us2k11Minor allele frequency- A:0.50NA 2
    rs8683431,2
    C--34011736(+) AGCAGC/TTCCCC 4 -- us2k11Minor allele frequency- T:0.00NA 2
    rs1130553451,2
    --34011890(+) CCGGCG/AGGGCC 4 -- us2k12Minor allele frequency- A:0.04CSA WA 120
    rs733050661,2
    C--34013585(+) CGGGTG/AGGCTT 4 -- int11Minor allele frequency- A:0.50WA 2
    rs615549071,2
    C,F--34014189(+) GTGGAG/TCTCTG 4 -- int14Minor allele frequency- T:0.17WA CSA NA 242
    rs46417961,2
    C--34017236(+) TCAGCC/G/TTGGGA 4 -- int11NA 2

    HapMap Linkage Disequilibrium report for THRA (38214543 - 38250120 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for THRA: --
    Human Gene Mutation Database (HGMD): THRA

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    THRA for disorders           About GeneDecksing

    OMIM gene information: 190120    OMIM disorders: --

    UniProtKB/Swiss-Prot: THA_HUMAN, P10827
  • Defects in THRA are the cause of congenital hypothyroidism non-goitrous type 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

    20/37 diseases for THRA (see all 37):    About MalaCards
    thyroiditis    glanzmann's thrombasthenia    congenital diaphragmatic hernia    leukemia
    renal clear cell carcinoma    thrombasthenia    hyperthyroxinemia    acute promyelocytic leukemia
    coronary heart disease    follicular thyroid carcinoma    morbid obesity    hernia
    breast-ovarian cancer    ovarian cancer    dwarfism    pituitary tumor
    thyroid carcinoma    liposarcoma    thyroid cancer    obesity

    1 disease from the University of Copenhagen DISEASES database for THRA:
    Hypothyroidism

    10/12 Novoseek disease relationships for THRA gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    osteoclastoma 58.9 2 10807056 (2)
    thyroid cancer 31.5 4 12231529 (4)
    erythroleukemia 30.8 1 11420726 (1)
    hypertrophy 15.3 2 15831522 (1)
    breast carcinoma 0 1 7737350 (1)
    breast cancer 0 3 16832786 (2), 9695977 (1)
    metastasis 0 2 11741739 (1), 20062085 (1)
    ovarian cancer 0 1 8460637 (1)
    nsclc 0 1 12911822 (1)
    tumors 0 12 10487522 (3), 12231529 (2), 10022432 (1), 10822129 (1) (see all 8)

    Genatlas disease: THRA
    hyperthyroxinemia,euthyroidal

    Genetic Association Database (GAD): THRA
    Human Genome Epidemiology (HuGE) Navigator: THRA (11 documents)
    Tumor Gene Database (TGDB): THRA

    Export disorders for THRA gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for THRA gene, integrated from 9 sources (see all 280):
    (articles sorted by number of sources associating them with THRA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genomic organization of the human thyroid hormone receptor alpha (c- erbA-1) gene. (PubMed id 1850510)1, 2, 9 Laudet V....Saule S. (1991)
    2. Proteomic analysis of ubiquitinated proteins in normal hepatocyte cell line Chang liver cells. (PubMed id 18655026)1, 2 Tan F....Peng X. (2008)
    3. Thyroid cancer susceptibility and THRA1 and BAT-40 repeats polymorphisms. (PubMed id 15767343)1, 4 Baida A....Velazquez A. (2005)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. A nuclear factor ASC-2, as a cancer-amplified transcriptional coactivator essential for ligand-dependent transactivation by nuclear receptors in vivo. (PubMed id 10567404)1, 2 Lee S.-K.... Lee J.W. (1999)
    6. Characterization of Brx, a novel Dbl family member that modulates estrogen receptor action. (PubMed id 9627117)1, 2 Rubino D.... Segars J. (1998)
    7. Nuclear receptor coactivator ACTR is a novel histone acetyltransferase and forms a multimeric activation complex with P/CAF and CBP/p300. (PubMed id 9267036)1, 2 Chen H.... Evans R.M. (1997)
    8. Two erbA homologs encoding proteins with different T3 binding capacities are transcribed from opposite DNA strands of the same genetic locus. (PubMed id 2539258)1, 2 Miyajima N.... Yamamoto T. (1989)
    9. Characterization of a third human thyroid hormone receptor coexpressed with other thyroid hormone receptors in several tissues. (PubMed id 2464749)1, 2 Nakai A.... Degroot L.J. (1988)
    10. Characterization of a thyroid hormone receptor expressed in human kidney and other tissues. (PubMed id 3357890)1, 2 Nakai A.... Degroot L.J. (1988)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7067 HGNC: 11796 AceView: THRA Ensembl:ENSG00000126351 euGenes: HUgn7067
    ECgene: THRA Kegg: 7067 H-InvDB: THRA

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for THRA Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for THRA Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for THRA gene:
    Search GeneIP for patents involving THRA

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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