Gene Gene information from NCBI Gene database.
Entrez ID 7068
Gene name Thyroid hormone receptor beta
Gene symbol THRB
Synonyms (NCBI Gene)
C-ERBA-2C-ERBA-BETAERBA2GRTHNR1A2PRTHTHR1THRB1THRB2THRbetaTHRbeta1TRbTRbetaTRbeta1Thrbeta2
Chromosome 3
Chromosome location 3p24.2
Summary 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
SNPs SNP information provided by dbSNP.
49
SNP ID Visualize variation Clinical significance Consequence
rs28933408 G>A,C,T Pathogenic Missense variant, coding sequence variant
rs28999969 C>T Pathogenic, conflicting-interpretations-of-pathogenicity Intron variant, missense variant, coding sequence variant
rs28999970 C>A,T Pathogenic Intron variant, missense variant, coding sequence variant
rs28999971 C>T Pathogenic Intron variant, missense variant, coding sequence variant
rs121918686 C>A,G,T Pathogenic, likely-pathogenic Missense variant, intron variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
439
miRTarBase ID miRNA Experiments Reference
MIRT005425 hsa-miR-27a-3p Luciferase reporter assayNorthern blotWestern blot 21149577
MIRT005425 hsa-miR-27a-3p Luciferase reporter assayNorthern blotWestern blot 21149577
MIRT005524 hsa-miR-204-5p Luciferase reporter assayqRT-PCRWestern blot 20691260
MIRT005524 hsa-miR-204-5p Luciferase reporter assayqRT-PCRWestern blot 20691260
MIRT054752 hsa-miR-155-5p Luciferase reporter assayReal time PCR 24849932
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
55
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
190160 11799 ENSG00000151090
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P10828
Protein name Thyroid hormone receptor beta (Nuclear receptor subfamily 1 group A member 2) (c-erbA-2) (c-erbA-beta)
Protein function Nuclear hormone receptor that can act as a repressor or activator of transcription. High affinity receptor for thyroid hormones, including triiodothyronine and thyroxine. {ECO:0000269|PubMed:12699376, ECO:0000269|PubMed:14673100, ECO:0000269|Pub
PDB 1BSX , 1N46 , 1NAX , 1NQ0 , 1NQ1 , 1NQ2 , 1NUO , 1Q4X , 1R6G , 1XZX , 1Y0X , 2J4A , 2NLL , 2PIN , 3D57 , 3GWS , 3IMY , 3JZC , 4ZO1 , 6KKB , 6KKE , 6KNU , 6KNV , 6KNW , 7WLX , 7WMG , 7WMH , 7WMJ , 7WML , 7WMN , 7WMO , 8RQN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00105 zf-C4 105 176 Zinc finger, C4 type (two domains) Domain
PF00104 Hormone_recep 264 445 Ligand-binding domain of nuclear hormone receptor Domain
Sequence
MTPNSMTENGLTAWDKPKHCPDREHDWKLVGMSEACLHRKSHSERRSTLKNEQSSPHLIQ
TTWTSSIFHLDHDDVNDQSVSSAQTFQTEEKKCKGYIPSYLDKDELCVVCGDKATGYHYR
CITCEGCKGFFRRTIQKNLHPSYSCKYEGKCVIDKVTRNQCQECRFKKCIYVGMAT
DLVL
DDSKRLAKRKLIEENREKRRREELQKSIGHKPEPTDEEWELIKTVTEAHVATNAQGSHWK
QKRKFLPEDIGQAPIVNAPEGGKVDLEAFSHFTKIITPAITRVVDFAKKLPMFCELPCED
QIILLKGCCMEIMSLRAAVRYDPESETLTLNGEMAVTRGQLKNGGLGVVSDAIFDLGMSL
SSFNLDDTEVALLQAVLLMSSDRPGLACVERIEKYQDSFLLAFEHYINYRKHHVTHFWPK
LLMKVTDLRMIGACHASRFLHMKVE
CPTELFPPLFLEVFED
Sequence length 461
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Neuroactive ligand-receptor interaction
Hormone signaling
Thyroid hormone signaling pathway
  Nuclear Receptor transcription pathway
SUMOylation of intracellular receptors
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
319
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Generalized resistance to thyroid hormone Pathogenic rs121918700, rs28999970, rs121918701, rs2471597566, rs121918702 RCV000013368
RCV000013371
RCV000013375
RCV000013388
RCV000013389
Hyperthyroidism Pathogenic; Likely pathogenic rs121918707, rs28933408, rs1553609195, rs1553609210 RCV006276052
RCV006436798
RCV006436847
RCV006436872
Macular dystrophy Pathogenic rs2474261231 RCV003315268
resistance to thyroid hormone (RTH) Likely pathogenic rs1559415720 RCV005250106
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hepatocellular carcinoma Benign rs2278802 RCV005916931
Neurodevelopmental disorder Conflicting classifications of pathogenicity rs367757240 RCV003389056
Ovarian serous cystadenocarcinoma Benign rs76054208 RCV005897658
See cases Conflicting classifications of pathogenicity rs114070375 RCV002287474
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abruptio Placentae Associate 30194050
Adrenal incidentaloma Associate 27758132
Alzheimer Disease Stimulate 24036060
Atrial Fibrillation Associate 36499571
Attention Deficit Disorder with Hyperactivity Associate 32505587
Breast Neoplasms Inhibit 31760908, 34534367
Breast Neoplasms Associate 31947762
Carcinogenesis Associate 31947762
Carcinoma Non Small Cell Lung Associate 22491060
Carcinoma Renal Cell Inhibit 24849932