Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7067
Gene name Gene Name - the full gene name approved by the HGNC.
Thyroid hormone receptor alpha
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
THRA
Synonyms (NCBI Gene) Gene synonyms aliases
AR7, CHNG6, EAR7, ERB-T-1, ERBA, ERBA1, NR1A1, THRA1, THRA2, THRalpha, THRalpha1, THRalpha2, TRalpha, TRalpha1, TRalpha2, c-ERBA-1, c-erbA
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q21.1
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
rs137853162 G>T Pathogenic Coding sequence variant, missense variant
rs137853163 G>C Pathogenic Coding sequence variant, missense variant
rs199530759 G>A Pathogenic, benign Splice acceptor variant
rs746765465 C>- Pathogenic Coding sequence variant, frameshift variant, intron variant
rs876657394 C>A Pathogenic Intron variant, stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT004386 hsa-miR-18a-5p Microarray, Northern blot 16331254
MIRT019902 hsa-miR-375 Microarray 20215506
MIRT046501 hsa-miR-15b-5p CLASH 23622248
MIRT043845 hsa-miR-330-3p CLASH 23622248
MIRT037281 hsa-miR-877-5p CLASH 23622248
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:0000785 Component Chromatin ISA
GO:0000976 Function Transcription cis-regulatory region binding IDA 18052923
GO:0000976 Function Transcription cis-regulatory region binding IEA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
190120 11796 ENSG00000126351
Protein
UniProt ID P10827
Protein name Thyroid hormone receptor alpha (Nuclear receptor subfamily 1 group A member 1) (V-erbA-related protein 7) (EAR-7) (c-erbA-1) (c-erbA-alpha)
Protein 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. {ECO:0000269|PubMed:12699376, ECO:0000269|PubMed:146731
PDB 1NAV , 2H77 , 2H79 , 3HZF , 3ILZ , 3JZB , 4LNW , 4LNX , 7QDT , 8RQO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00105 zf-C4 51 122 Zinc finger, C4 type (two domains) Domain
PF00104 Hormone_recep 205 379 Ligand-binding domain of nuclear hormone receptor Domain
Sequence
MEQKPSKVECGSDPEENSARSPDGKRKRKNGQCSLKTSMSGYIPSYLDKDEQCVVCGDKA
TGYHYRCITCEGCKGFFRRTIQKNLHPTYSCKYDSCCVIDKITRNQCQLCRFKKCIAVGM
AM
DLVLDDSKRVAKRKLIEQNRERRRKEEMIRSLQQRPEPTPEEWDLIHIATEAHRSTNA
QGSHWKQRRKFLPDDIGQSPIVSMPDGDKVDLEAFSEFTKIITPAITRVVDFAKKLPMFS
ELPCEDQIILLKGCCMEIMSLRAAVRYDPESDTLTLSGEMAVKREQLKNGGLGVVSDAIF
ELGKSLSAFNLDDTEVALLQAVLLMSTDRSGLLCVDKIEKSQEAYLLAFEHYVNHRKHNI
PHFWPKLLMKEREVQSSIL
YKGAAAEGRPGGSLGVHPEGQQLLGMHVVQGPQVRQLEQQL
GEAGSLQGPVLQHQSPKSPQQRLLELLHRSGILHARAVCGEDDSSEADSPSSSEEEPEVC
EDLAGNAASP
Sequence length 490
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)
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 in any disease, Asthma (childhood onset) N/A N/A GWAS
Bipolar Disorder Bipolar disorder N/A N/A GWAS
Hypothyroidism congenital nongoitrous hypothyroidism 6 N/A N/A GenCC
Pancreatic adenocarcinoma Pancreatic ductal adenocarcinoma N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abortion Spontaneous Inhibit 37968664
Anemia Associate 28471274, 28911146, 36103385
Apraxias Associate 28471274
Bipolar Disorder Associate 25540388, 40562893
Bone Diseases Associate 36103385
Bone Neoplasms Associate 23199169
Breast Neoplasms Associate 1976118, 21288332, 25934412, 33478016, 34930399
Carcinogenesis Associate 19457610
Carcinoma Renal Cell Associate 29022645, 33761933
Carcinoma Renal Cell Stimulate 32533406