Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7068
Gene name Gene Name - the full gene name approved by the HGNC.
Thyroid hormone receptor beta
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
THRB
Synonyms (NCBI Gene) Gene synonyms aliases
C-ERBA-2, C-ERBA-BETA, ERBA2, GRTH, NR1A2, PRTH, THR1, THRB1, THRB2, THRbeta, THRbeta1, TRb, TRbeta, TRbeta1, Thrbeta2
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p24.2
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
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.
miRTarBase ID miRNA Experiments Reference
MIRT005425 hsa-miR-27a-3p Luciferase reporter assay, Northern blot, Western blot 21149577
MIRT005425 hsa-miR-27a-3p Luciferase reporter assay, Northern blot, Western blot 21149577
MIRT005524 hsa-miR-204-5p Luciferase reporter assay, qRT-PCR, Western blot 20691260
MIRT005524 hsa-miR-204-5p Luciferase reporter assay, qRT-PCR, Western blot 20691260
MIRT054752 hsa-miR-155-5p Luciferase reporter assay, Real time PCR 24849932
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
190160 11799 ENSG00000151090
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Thyroid Hormone Resistance thyroid hormone resistance, generalized, autosomal dominant, thyroid hormone resistance syndrome, thyroid hormone resistance, generalized, autosomal recessive rs121918692, rs1553609167, rs121918706, rs1553609152, rs121918686, rs121918693, rs1553609210, rs121918707, rs1553609179, rs121918688, rs121918694, rs121918708, rs121918687, rs1057519028, rs1553610974
View all (21 more)
N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma N/A N/A GWAS
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Lung adenocarcinoma Familial squamous cell lung carcinoma N/A N/A GWAS
Associations from Text Mining Disease 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