THRA (thyroid hormone receptor alpha)

2003-02-01  

Identity

HGNC
LOCATION
17q21.1
LOCUSID
ALIAS
AR7,CHNG6,EAR7,ERB-T-1,ERBA,ERBA1,NR1A1,THRA1,THRA2,TRalpha,c-ERBA-1
FUSION GENES

Other Information

Locus ID:

NCBI: 7067
MIM: 190120
HGNC: 11796
Ensembl: ENSG00000126351

Variants:

dbSNP: 7067
ClinVar: 7067
TCGA: ENSG00000126351
COSMIC: THRA

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000126351ENST00000264637P10827
ENSG00000126351ENST00000394121P10827
ENSG00000126351ENST00000450525P10827
ENSG00000126351ENST00000450525Q6FH41
ENSG00000126351ENST00000546243P10827
ENSG00000126351ENST00000546243Q6FH41
ENSG00000126351ENST00000577288J3QR26
ENSG00000126351ENST00000577486J3QRW5
ENSG00000126351ENST00000578218J3QRA9
ENSG00000126351ENST00000584985P10827
ENSG00000126351ENST00000585047J3KTF3

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
Neuroactive ligand-receptor interactionKEGGko04080
Neuroactive ligand-receptor interactionKEGGhsa04080
Thyroid hormone signaling pathwayKEGGhsa04919
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
Nuclear Receptor transcription pathwayREACTOMER-HSA-383280

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA131285571aspirin-induced asthmaDiseaseClinicalAnnotationassociatedPD
PA443450AsthmaDiseaseClinicalAnnotationassociatedPD
PA447199Bipolar DisorderDiseaseClinicalAnnotationassociatedPD20348464
PA448497aspirinChemicalClinicalAnnotationassociatedPD
PA450243lithiumChemicalClinicalAnnotationassociatedPD20348464

References

Pubmed IDYearTitleCitations
205347412010Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals.108
197306832009The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility through the recruitment of USF1/USF2 transcription factors.59
118891752002Functionally impaired TR mutants are present in thyroid papillary cancer.36
202313572010Cyclin-dependent kinase 8 positively cooperates with Mediator to promote thyroid hormone receptor-dependent transcriptional activation.34
120826182002Expression of thyroid hormone receptor/erbA genes is altered in human breast cancer.33
172202802007Impaired adipogenesis caused by a mutated thyroid hormone alpha1 receptor.31
167817322006Structural rearrangements in the thyroid hormone receptor hinge domain and their putative role in the receptor function.30
239401262013An adult female with resistance to thyroid hormone mediated by defective thyroid hormone receptor α.30
158023732005Pituitary resistance to thyroid hormone syndrome is associated with T3 receptor mutants that selectively impair beta2 isoform function.27
196285822009Isoform-specific transcriptional activity of overlapping target genes that respond to thyroid hormone receptors alpha1 and beta1.27

Citation

Dessen P

THRA (thyroid hormone receptor alpha)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/42553/thra