THRB
entrez
7068
canonical
uniprot
P10828
canonical
ensembl
ENSG00000151090
resolver
ensp
ENSP00000348827
resolver
ensp
ENSP00000379904
resolver
ensp
ENSP00000414444
resolver
ensp
ENSP00000493709
resolver
ensp
ENSP00000494618
resolver
ensp
ENSP00000496029
resolver
ensp
ENSP00000496616
resolver
ensp
ENSP00000496686
resolver
ensp
ENSP00000521562
resolver
ensp
ENSP00000521563
resolver
ensp
ENSP00000521564
resolver
ensp
ENSP00000521565
resolver
ensp
ENSP00000521566
resolver
ensp
ENSP00000521567
resolver
ensp
ENSP00000521570
resolver
ensp
ENSP00000521573
resolver
ensp
ENSP00000521574
resolver
ensp
ENSP00000521575
resolver
ensp
ENSP00000521576
resolver
ensp
ENSP00000521578
resolver
ensp
ENSP00000521580
resolver
ensp
ENSP00000635349
resolver
ensp
ENSP00000635350
resolver
ensp
ENSP00000635352
resolver
ensp
ENSP00000635353
resolver
ensp
ENSP00000635355
resolver
ensp
ENSP00000635357
resolver
ensp
ENSP00000635358
resolver
genesymbol
NR1A2
resolver
genesymbol
THRB
resolver
genesymbol_syn
ERBA2
resolver
genesymbol_syn
NR1A2
resolver
genesymbol_syn
THR1
resolver
hgnc
HGNC:11799
resolver
uniprot
A0A024R2I8
resolver
uniprot
B3KU79
resolver
uniprot
F1D8N7
resolver
uniprot
P37243
resolver
uniprot
Q13986
resolver
uniprot
Q3KP35
resolver
uniprot
Q6WGL2
resolver
uniprot
Q9UD41
resolver
uniprot_entry
A0A024R2I8_HUMAN
resolver
uniprot_entry
THB_HUMAN
resolver
uniprot_sec
B3KU79
resolver
uniprot_sec
F1D8N7
resolver
uniprot_sec
P37243
resolver
uniprot_sec
Q13986
resolver
uniprot_sec
Q3KP35
resolver
uniprot_sec
Q6WGL2
resolver
uniprot_sec
Q9UD41
resolver
amino_acid_sequence
MTPNSMTENGLTAWDKPKHCPDREHDWKLVGMSEACLHRKSHSERRSTLKNEQSSPHLIQTTWTSSIFHLDHDDVNDQSVSSAQTFQTEEKKCKGYIPSYLDKDELCVVCGDKATGYHYRCITCEGCKGFFRRTIQKNLHPSYSCKYEGKCVIDKVTRNQCQECRFKKCIYVGMATDLVLDDSKRLAKRKLIEENREKRRREELQKSIGHKPEPTDEEWELIKTVTEAHVATNAQGSHWKQKRKFLPEDIGQAPIVNAPEGGKVDLEAFSHFTKIITPAITRVVDFAKKLPMFCELPCEDQIILLKGCCMEIMSLRAAVRYDPESETLTLNGEMAVTRGQLKNGGLGVVSDAIFDLGMSLSSFNLDDTEVALLQAVLLMSSDRPGLACVERIEKYQDSFLLAFEHYINYRKHHVTHFWPKLLMKVTDLRMIGACHASRFLHMKVECPTELFPPLFLEVFED
uniprot
proteins
disease_involvement
DISEASE: Thyroid hormone resistance, generalized, autosomal dominant (GRTHD) [MIM:188570]: An autosomal dominant disease characterized by high levels of circulating thyroid hormones (T3-T4), goiter, abnormal mental functions, increased susceptibility to infections, abnormal growth and bone maturation, tachycardia and deafness. Affected individuals may also have attention deficit-hyperactivity disorders (ADHD) and language difficulties. Patients have normal or slightly elevated thyroid stimulating hormone (TSH). {ECO:0000269|PubMed:10660344, ECO:0000269|PubMed:12511610, ECO:0000269|PubMed:12554782, ECO:0000269|PubMed:1314846, ECO:0000269|PubMed:1324420, ECO:0000269|PubMed:1563081, ECO:0000269|PubMed:1587388, ECO:0000269|PubMed:1619012, ECO:0000269|PubMed:1661299, ECO:0000269|PubMed:16804041, ECO:0000269|PubMed:1846005, ECO:0000269|PubMed:19268523, ECO:0000269|PubMed:2153155, ECO:0000269|PubMed:2510172, ECO:0000269|PubMed:7833659, ECO:0000269|PubMed:8175986, ECO:0000269|PubMed:8514853, ECO:0000269|PubMed:8664910, ECO:0000269|PubMed:8889584}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Thyroid hormone resistance, generalized, autosomal recessive (GRTHR) [MIM:274300]: An autosomal recessive disorder characterized by goiter, clinical euthyroidism, end-organ unresponsiveness to thyroid hormone, abnormal growth and bone maturation, and deafness. Patients also have high levels of circulating thyroid hormones, with elevated thyroid stimulating hormone. {ECO:0000269|PubMed:1653889}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]: Variant form of thyroid hormone resistance and is characterized by clinical hyperthyroidism, with elevated free thyroid hormones, but inappropriately normal serum TSH. Unlike GRTH, where the syndrome usually segregates with a dominant allele, the mode of inheritance in PRTH has not been established. {ECO:0000269|PubMed:7528740, ECO:0000269|PubMed:8381821}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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|PubMed:16781732, ECO:0000269|PubMed:17418816, ECO:0000269|PubMed:18237438, ECO:0000269|PubMed:18798561, ECO:0000269|PubMed:19926848}.
uniprot
proteins
mass_dalton
52788
uniprot
proteins
mutagenesis
MUTAGEN 207..208; /note="SI->AA: Modestly inhibits homodimer formation on a minimal response element (in vitro)."; /evidence="ECO:0000269|PubMed:16781732"; MUTAGEN 207..208; /note="SI->KK: Inhibits homodimer formation on a minimal response element (in vitro)."; /evidence="ECO:0000269|PubMed:16781732"; MUTAGEN 243; /note="R->Q: Impairs hormone binding and ligand-dependent conformational changes."; /evidence="ECO:0000269|PubMed:12511610"; MUTAGEN 331; /note="N->S: No effect on thyroid hormone binding."; /evidence="ECO:0000269|PubMed:14673100, ECO:0000269|PubMed:19926848"; MUTAGEN 355; /note="D->R: Stabilizes homodimer."; /evidence="ECO:0000269|PubMed:18798561
uniprot
proteins
protein_family
NR1 subfamily
uniprot
proteins
protein_family
Nuclear hormone receptor family
uniprot
proteins
pubmed
10660344
uniprot
proteins
pubmed
10713182
uniprot
proteins
pubmed
11971969
uniprot
proteins
pubmed
12039952
uniprot
proteins
pubmed
12511610
uniprot
proteins
pubmed
12554782
uniprot
proteins
pubmed
12699376
uniprot
proteins
pubmed
1314846
uniprot
proteins
pubmed
1324420
uniprot
proteins
pubmed
14673100
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15105435
uniprot
proteins
pubmed
15466465
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1563081
uniprot
proteins
pubmed
1587388
uniprot
proteins
pubmed
1619012
uniprot
proteins
pubmed
1653889
uniprot
proteins
pubmed
1661299
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
16781732
uniprot
proteins
pubmed
16804041
uniprot
proteins
pubmed
17418816
uniprot
proteins
pubmed
18237438
uniprot
proteins
pubmed
1846005
uniprot
proteins
pubmed
18798561
uniprot
proteins
pubmed
19268523
uniprot
proteins
pubmed
1973914
uniprot
proteins
pubmed
19926848
uniprot
proteins
pubmed
20078863
uniprot
proteins
pubmed
2153155
uniprot
proteins
pubmed
2510172
uniprot
proteins
pubmed
2879243
uniprot
proteins
pubmed
3034496
uniprot
proteins
pubmed
7528740
uniprot
proteins
pubmed
7746322
uniprot
proteins
pubmed
7833659
uniprot
proteins
pubmed
8175986
uniprot
proteins
pubmed
8381821
uniprot
proteins
pubmed
8514853
uniprot
proteins
pubmed
8664910
uniprot
proteins
pubmed
8889584
uniprot
proteins
sequence_length
461
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus.
uniprot
proteins