AlphaFold predicted structure
THRA · P10827
Mean pLDDT
73.1/ 100
Confident
490 residues
Confidence breakdown
- Very high(≥ 90)47%
- Confident(70–90)19%
- Low(50–70)5%
- Very low(< 50)30%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
THRA
Chr 17q21.1thyroid hormone receptor alpha
- Aliases:
- EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1
- MANE:
- ENST00000450525.7
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Congenital hypothyroidism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownHyperthyroidism
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedMonogenic hearing loss
Disease associations (Open Targets)
peripheral resistance to thyroid hormones
0.70hypothyroidism
0.61hypothyroidism due to TSH receptor mutations
0.58differentiated thyroid carcinoma
0.52hereditary disease
0.48myxedema
0.46neurodegenerative disease
0.45thyroid cancer
0.40thyrotoxicosis
0.40generalized resistance to thyroid hormone
0.39
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Thyroid hormone receptor alpha
Nuclear hormone receptor that can act as a repressor or activator of transcription. High affinity receptor for thyroid hormones, including triiodothyronine and thyroxine
Diseases associated with THRA
Curated MONDO disease pages that list THRA among their top associated genes.