THRA (thyroid hormone receptor alpha)

Gene

• Entrez ID: 7067
• Gene name: Thyroid hormone receptor alpha
• Gene symbol: THRA
• Synonyms (NCBI Gene): AR7, CHNG6, EAR7, ERB-T-1, ERBA, ERBA1, NR1A1, THRA1, THRA2, THRalpha, THRalpha1, THRalpha2, TRalpha, TRalpha1, TRalpha2, c-ERBA-1, c-erbA
• Chromosome: 17
• Chromosome location: 17q21.1
• 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 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
rs876657395	G>A	Pathogenic	Missense variant, intron variant, coding sequence variant
rs876657396	C>G	Pathogenic	Missense variant, intron variant, coding sequence variant
rs1555545033	C>T	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

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
MIRT725111	hsa-miR-6887-3p	HITS-CLIP	19536157
MIRT725110	hsa-miR-6795-3p	HITS-CLIP	19536157
MIRT725109	hsa-miR-2276-5p	HITS-CLIP	19536157
MIRT725108	hsa-miR-6764-3p	HITS-CLIP	19536157
MIRT725107	hsa-miR-6824-3p	HITS-CLIP	19536157
MIRT725106	hsa-miR-7152-3p	HITS-CLIP	19536157
MIRT725105	hsa-miR-3663-5p	HITS-CLIP	19536157
MIRT725104	hsa-miR-615-5p	HITS-CLIP	19536157
MIRT725103	hsa-miR-6826-3p	HITS-CLIP	19536157
MIRT725102	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT570487	hsa-miR-4716-3p	HITS-CLIP	23313552
MIRT570486	hsa-miR-6794-5p	HITS-CLIP	23313552
MIRT607173	hsa-miR-6805-5p	HITS-CLIP	23313552
MIRT607172	hsa-miR-6732-5p	HITS-CLIP	23313552
MIRT607171	hsa-miR-7974	HITS-CLIP	23313552
MIRT607170	hsa-miR-4675	HITS-CLIP	23313552
MIRT607169	hsa-miR-4741	HITS-CLIP	23313552
MIRT607168	hsa-miR-185-3p	HITS-CLIP	23313552
MIRT607167	hsa-miR-6846-5p	HITS-CLIP	23313552
MIRT607166	hsa-miR-6848-5p	HITS-CLIP	23313552
MIRT607165	hsa-miR-6867-5p	HITS-CLIP	23313552
MIRT607164	hsa-miR-4278	HITS-CLIP	23313552
MIRT607163	hsa-miR-135b-3p	HITS-CLIP	23313552
MIRT607162	hsa-miR-574-5p	HITS-CLIP	23313552
MIRT570487	hsa-miR-4716-3p	HITS-CLIP	24906430
MIRT570486	hsa-miR-6794-5p	HITS-CLIP	24906430
MIRT607173	hsa-miR-6805-5p	HITS-CLIP	24906430
MIRT607172	hsa-miR-6732-5p	HITS-CLIP	24906430
MIRT607170	hsa-miR-4675	HITS-CLIP	24906430
MIRT607169	hsa-miR-4741	HITS-CLIP	24906430
MIRT607168	hsa-miR-185-3p	HITS-CLIP	24906430
MIRT607167	hsa-miR-6846-5p	HITS-CLIP	24906430
MIRT607166	hsa-miR-6848-5p	HITS-CLIP	24906430
MIRT607165	hsa-miR-6867-5p	HITS-CLIP	24906430
MIRT607164	hsa-miR-4278	HITS-CLIP	24906430
MIRT607163	hsa-miR-135b-3p	HITS-CLIP	24906430
MIRT607162	hsa-miR-574-5p	HITS-CLIP	24906430
MIRT607165	hsa-miR-6867-5p	HITS-CLIP	24906430
MIRT607162	hsa-miR-574-5p	HITS-CLIP	24906430
MIRT570487	hsa-miR-4716-3p	HITS-CLIP	24906430
MIRT570486	hsa-miR-6794-5p	HITS-CLIP	24906430
MIRT607173	hsa-miR-6805-5p	HITS-CLIP	24906430
MIRT607172	hsa-miR-6732-5p	HITS-CLIP	24906430
MIRT607171	hsa-miR-7974	HITS-CLIP	24906430
MIRT607170	hsa-miR-4675	HITS-CLIP	24906430
MIRT607169	hsa-miR-4741	HITS-CLIP	24906430
MIRT607168	hsa-miR-185-3p	HITS-CLIP	24906430
MIRT607167	hsa-miR-6846-5p	HITS-CLIP	24906430
MIRT607166	hsa-miR-6848-5p	HITS-CLIP	24906430
MIRT607165	hsa-miR-6867-5p	HITS-CLIP	24906430
MIRT607164	hsa-miR-4278	HITS-CLIP	24906430
MIRT607163	hsa-miR-135b-3p	HITS-CLIP	24906430
MIRT607162	hsa-miR-574-5p	HITS-CLIP	24906430
MIRT570489	hsa-miR-1321	PAR-CLIP	20371350
MIRT570490	hsa-miR-4739	PAR-CLIP	20371350
MIRT570488	hsa-miR-4756-5p	PAR-CLIP	20371350
MIRT570487	hsa-miR-4716-3p	PAR-CLIP	20371350
MIRT570486	hsa-miR-6794-5p	PAR-CLIP	20371350
MIRT570485	hsa-miR-4270	PAR-CLIP	20371350
MIRT570484	hsa-miR-4441	PAR-CLIP	20371350
MIRT570483	hsa-miR-6754-5p	PAR-CLIP	20371350
MIRT570482	hsa-miR-140-3p	PAR-CLIP	20371350
MIRT570481	hsa-miR-5004-5p	PAR-CLIP	20371350
MIRT570480	hsa-miR-7154-3p	PAR-CLIP	20371350
MIRT570479	hsa-miR-765	PAR-CLIP	20371350
MIRT570477	hsa-miR-7106-5p	PAR-CLIP	20371350
MIRT570478	hsa-miR-149-3p	PAR-CLIP	20371350
MIRT570476	hsa-miR-4728-5p	PAR-CLIP	20371350
MIRT570475	hsa-miR-6785-5p	PAR-CLIP	20371350
MIRT570474	hsa-miR-6883-5p	PAR-CLIP	20371350
MIRT570473	hsa-miR-6825-5p	PAR-CLIP	20371350
MIRT570472	hsa-miR-4723-5p	PAR-CLIP	20371350
MIRT570471	hsa-miR-5698	PAR-CLIP	20371350
MIRT570470	hsa-miR-6870-5p	PAR-CLIP	20371350
MIRT570468	hsa-miR-7111-5p	PAR-CLIP	20371350
MIRT466332	hsa-miR-28-5p	PAR-CLIP	23592263
MIRT466330	hsa-miR-3139	PAR-CLIP	23592263
MIRT466329	hsa-miR-708-5p	PAR-CLIP	23592263
MIRT466328	hsa-miR-3174	PAR-CLIP	23592263
MIRT466327	hsa-miR-130a-3p	PAR-CLIP	23592263
MIRT466326	hsa-miR-130b-3p	PAR-CLIP	23592263
MIRT466325	hsa-miR-301a-3p	PAR-CLIP	23592263
MIRT466324	hsa-miR-301b-3p	PAR-CLIP	23592263
MIRT466322	hsa-miR-3666	PAR-CLIP	23592263
MIRT466323	hsa-miR-4295	PAR-CLIP	23592263
MIRT466321	hsa-miR-454-3p	PAR-CLIP	23592263
MIRT466320	hsa-miR-4487	PAR-CLIP	23592263
MIRT466319	hsa-miR-6499-3p	PAR-CLIP	23592263
MIRT466318	hsa-miR-4707-3p	PAR-CLIP	23592263
MIRT466317	hsa-miR-4731-5p	PAR-CLIP	23592263
MIRT287037	hsa-miR-143-5p	PAR-CLIP	23592263
MIRT466316	hsa-miR-4671-3p	PAR-CLIP	23592263
MIRT466315	hsa-miR-4473	PAR-CLIP	23592263
MIRT466314	hsa-miR-6869-5p	PAR-CLIP	23592263
MIRT466313	hsa-miR-1263	PAR-CLIP	23592263
MIRT607163	hsa-miR-135b-3p	HITS-CLIP	27418678
MIRT607168	hsa-miR-185-3p	HITS-CLIP	27418678
MIRT607164	hsa-miR-4278	HITS-CLIP	27418678
MIRT607170	hsa-miR-4675	HITS-CLIP	27418678
MIRT607169	hsa-miR-4741	HITS-CLIP	27418678
MIRT607172	hsa-miR-6732-5p	HITS-CLIP	27418678
MIRT607173	hsa-miR-6805-5p	HITS-CLIP	27418678
MIRT607167	hsa-miR-6846-5p	HITS-CLIP	27418678
MIRT607166	hsa-miR-6848-5p	HITS-CLIP	27418678
MIRT607171	hsa-miR-7974	HITS-CLIP	27418678
MIRT725111	hsa-miR-6887-3p	HITS-CLIP	19536157
MIRT725110	hsa-miR-6795-3p	HITS-CLIP	19536157
MIRT725109	hsa-miR-2276-5p	HITS-CLIP	19536157
MIRT725108	hsa-miR-6764-3p	HITS-CLIP	19536157
MIRT725107	hsa-miR-6824-3p	HITS-CLIP	19536157
MIRT725106	hsa-miR-7152-3p	HITS-CLIP	19536157
MIRT725105	hsa-miR-3663-5p	HITS-CLIP	19536157
MIRT725104	hsa-miR-615-5p	HITS-CLIP	19536157
MIRT725103	hsa-miR-6826-3p	HITS-CLIP	19536157
MIRT725102	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT570487	hsa-miR-4716-3p	HITS-CLIP	23313552
MIRT570486	hsa-miR-6794-5p	HITS-CLIP	23313552
MIRT607173	hsa-miR-6805-5p	HITS-CLIP	23313552
MIRT607172	hsa-miR-6732-5p	HITS-CLIP	23313552
MIRT607171	hsa-miR-7974	HITS-CLIP	23313552
MIRT607170	hsa-miR-4675	HITS-CLIP	23313552
MIRT607169	hsa-miR-4741	HITS-CLIP	23313552
MIRT607168	hsa-miR-185-3p	HITS-CLIP	23313552
MIRT607167	hsa-miR-6846-5p	HITS-CLIP	23313552
MIRT607166	hsa-miR-6848-5p	HITS-CLIP	23313552
MIRT607165	hsa-miR-6867-5p	HITS-CLIP	23313552
MIRT607164	hsa-miR-4278	HITS-CLIP	23313552
MIRT607163	hsa-miR-135b-3p	HITS-CLIP	23313552
MIRT607162	hsa-miR-574-5p	HITS-CLIP	23313552
MIRT570489	hsa-miR-1321	PAR-CLIP	20371350
MIRT570490	hsa-miR-4739	PAR-CLIP	20371350
MIRT570488	hsa-miR-4756-5p	PAR-CLIP	20371350
MIRT570487	hsa-miR-4716-3p	PAR-CLIP	20371350
MIRT570486	hsa-miR-6794-5p	PAR-CLIP	20371350
MIRT570485	hsa-miR-4270	PAR-CLIP	20371350
MIRT570484	hsa-miR-4441	PAR-CLIP	20371350
MIRT570483	hsa-miR-6754-5p	PAR-CLIP	20371350
MIRT570482	hsa-miR-140-3p	PAR-CLIP	20371350
MIRT570481	hsa-miR-5004-5p	PAR-CLIP	20371350
MIRT570480	hsa-miR-7154-3p	PAR-CLIP	20371350
MIRT570479	hsa-miR-765	PAR-CLIP	20371350
MIRT570477	hsa-miR-7106-5p	PAR-CLIP	20371350
MIRT570478	hsa-miR-149-3p	PAR-CLIP	20371350
MIRT570476	hsa-miR-4728-5p	PAR-CLIP	20371350
MIRT570475	hsa-miR-6785-5p	PAR-CLIP	20371350
MIRT570474	hsa-miR-6883-5p	PAR-CLIP	20371350
MIRT570473	hsa-miR-6825-5p	PAR-CLIP	20371350
MIRT570472	hsa-miR-4723-5p	PAR-CLIP	20371350
MIRT570471	hsa-miR-5698	PAR-CLIP	20371350
MIRT570470	hsa-miR-6870-5p	PAR-CLIP	20371350
MIRT570468	hsa-miR-7111-5p	PAR-CLIP	20371350
MIRT466332	hsa-miR-28-5p	PAR-CLIP	23592263
MIRT466330	hsa-miR-3139	PAR-CLIP	23592263
MIRT466329	hsa-miR-708-5p	PAR-CLIP	23592263
MIRT466328	hsa-miR-3174	PAR-CLIP	23592263
MIRT466327	hsa-miR-130a-3p	PAR-CLIP	23592263
MIRT466326	hsa-miR-130b-3p	PAR-CLIP	23592263
MIRT466325	hsa-miR-301a-3p	PAR-CLIP	23592263
MIRT466324	hsa-miR-301b-3p	PAR-CLIP	23592263
MIRT466322	hsa-miR-3666	PAR-CLIP	23592263
MIRT466323	hsa-miR-4295	PAR-CLIP	23592263
MIRT466321	hsa-miR-454-3p	PAR-CLIP	23592263
MIRT466320	hsa-miR-4487	PAR-CLIP	23592263
MIRT466319	hsa-miR-6499-3p	PAR-CLIP	23592263
MIRT466318	hsa-miR-4707-3p	PAR-CLIP	23592263
MIRT466317	hsa-miR-4731-5p	PAR-CLIP	23592263
MIRT287037	hsa-miR-143-5p	PAR-CLIP	23592263
MIRT466316	hsa-miR-4671-3p	PAR-CLIP	23592263
MIRT466315	hsa-miR-4473	PAR-CLIP	23592263
MIRT466314	hsa-miR-6869-5p	PAR-CLIP	23592263
MIRT466313	hsa-miR-1263	PAR-CLIP	23592263
MIRT1423552	hsa-miR-3120-3p	CLIP-seq
MIRT1423553	hsa-miR-3176	CLIP-seq
MIRT1423554	hsa-miR-3922-3p	CLIP-seq
MIRT1423555	hsa-miR-4294	CLIP-seq
MIRT1423556	hsa-miR-545	CLIP-seq
MIRT1423557	hsa-miR-548p	CLIP-seq
MIRT1423558	hsa-miR-1197	CLIP-seq
MIRT1423559	hsa-miR-1205	CLIP-seq
MIRT1423560	hsa-miR-1286	CLIP-seq
MIRT1423561	hsa-miR-1292	CLIP-seq
MIRT1423562	hsa-miR-1343	CLIP-seq
MIRT1423563	hsa-miR-1913	CLIP-seq
MIRT1423564	hsa-miR-3127-3p	CLIP-seq
MIRT1423565	hsa-miR-3194-3p	CLIP-seq
MIRT1423566	hsa-miR-324-3p	CLIP-seq
MIRT1423567	hsa-miR-361-3p	CLIP-seq
MIRT1423568	hsa-miR-3943	CLIP-seq
MIRT1423569	hsa-miR-4267	CLIP-seq
MIRT1423570	hsa-miR-4418	CLIP-seq
MIRT1423571	hsa-miR-4436a	CLIP-seq
MIRT1423572	hsa-miR-4471	CLIP-seq
MIRT1423573	hsa-miR-4646-5p	CLIP-seq
MIRT1423574	hsa-miR-4659a-3p	CLIP-seq
MIRT1423575	hsa-miR-4659b-3p	CLIP-seq
MIRT1423576	hsa-miR-4722-5p	CLIP-seq
MIRT1423577	hsa-miR-4749-3p	CLIP-seq
MIRT1423578	hsa-miR-4768-5p	CLIP-seq
MIRT1423579	hsa-miR-509-3-5p	CLIP-seq
MIRT1423580	hsa-miR-509-5p	CLIP-seq
MIRT1423581	hsa-miR-511	CLIP-seq
MIRT1423582	hsa-miR-579	CLIP-seq
MIRT1423583	hsa-miR-942	CLIP-seq
MIRT2126875	hsa-miR-4514	CLIP-seq
MIRT2126876	hsa-miR-4692	CLIP-seq
MIRT2466226	hsa-miR-2467-3p	CLIP-seq
MIRT2466227	hsa-miR-3192	CLIP-seq
MIRT2466228	hsa-miR-4260	CLIP-seq
MIRT2466229	hsa-miR-486-3p	CLIP-seq
MIRT2466230	hsa-miR-635	CLIP-seq
MIRT2466231	hsa-miR-661	CLIP-seq

Gene ontology (GO)

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
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001502	Process	Cartilage condensation	IEA
GO:0001503	Process	Ossification	IEA
GO:0002154	Process	Thyroid hormone receptor signaling pathway	IBA
GO:0002155	Process	Regulation of thyroid hormone receptor signaling pathway	IEA
GO:0002157	Process	Positive regulation of thyroid hormone receptor signaling pathway	IDA	1310350
GO:0002157	Process	Positive regulation of thyroid hormone receptor signaling pathway	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	8710870, 9653119, 18052923
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0004879	Function	Nuclear receptor activity	IBA
GO:0004879	Function	Nuclear receptor activity	IDA	8710870, 15466465, 18052923
GO:0004879	Function	Nuclear receptor activity	IEA
GO:0005515	Function	Protein binding	IPI	9653119, 10866662, 21516116, 25416956, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	8710870, 19158403
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	19158403
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	18052923
GO:0006366	Process	Transcription by RNA polymerase II	IDA	8710870, 9653119
GO:0007611	Process	Learning or memory	IEA
GO:0008016	Process	Regulation of heart contraction	IEA
GO:0008050	Process	Female courtship behavior	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0009409	Process	Response to cold	IEA
GO:0009755	Process	Hormone-mediated signaling pathway	IDA	18052923
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0017025	Function	TBP-class protein binding	IDA	8524305
GO:0017055	Process	Negative regulation of RNA polymerase II transcription preinitiation complex assembly	IDA	8524305
GO:0019904	Function	Protein domain specific binding	IPI	9653119
GO:0030154	Process	Cell differentiation	IBA
GO:0030218	Process	Erythrocyte differentiation	IEA
GO:0030878	Process	Thyroid gland development	IEA
GO:0031490	Function	Chromatin DNA binding	IEA
GO:0033032	Process	Regulation of myeloid cell apoptotic process	IEA
GO:0042789	Process	MRNA transcription by RNA polymerase II	IDA	1310350
GO:0042789	Process	MRNA transcription by RNA polymerase II	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	8710870
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045925	Process	Positive regulation of female receptivity	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	1310350
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048384	Process	Retinoic acid receptor signaling pathway	IBA
GO:0050994	Process	Regulation of lipid catabolic process	IEA
GO:0060509	Process	Type I pneumocyte differentiation	IEA
GO:0070324	Function	Thyroid hormone binding	IDA	8710870, 15466465
GO:0070324	Function	Thyroid hormone binding	IPI	2879243
GO:0090575	Component	RNA polymerase II transcription regulator complex	EXP	22474364
GO:0090575	Component	RNA polymerase II transcription regulator complex	IBA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	21652727
GO:0140296	Function	General transcription initiation factor binding	IPI	8524305
GO:2000143	Process	Negative regulation of DNA-templated transcription initiation	IDA	8524305

Other IDs

• MIM: 190120
• HGNC: 11796
• e!Ensembl: 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
  AMDLVLDDSKRVAKRKLIEQNRERRRKEEMIRSLQQRPEPTPEEWDLIHIATEAHRSTNA
  QGSHWKQRRKFLPDDIGQSPIVSMPDGDKVDLEAFSEFTKIITPAITRVVDFAKKLPMFS
  ELPCEDQIILLKGCCMEIMSLRAAVRYDPESDTLTLSGEMAVKREQLKNGGLGVVSDAIF
  ELGKSLSAFNLDDTEVALLQAVLLMSTDRSGLLCVDKIEKSQEAYLLAFEHYVNHRKHNI
  PHFWPKLLMKEREVQSSILYKGAAAEGRPGGSLGVHPEGQQLLGMHVVQGPQVRQLEQQL
  GEAGSLQGPVLQHQSPKSPQQRLLELLHRSGILHARAVCGEDDSSEADSPSSSEEEPEVC
  EDLAGNAASP

• Sequence length: 490

Pathways

KEGG:

Neuroactive ligand-receptor interaction
Hormone signaling
Thyroid hormone signaling pathway

Reactome:

Nuclear Receptor transcription pathway
SUMOylation of intracellular receptors

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Congenital nongoitrous hypothyroidism 6	Pathogenic; Likely pathogenic	rs2145097039, rs2145085082, rs876657394, rs876657395, rs876657396, rs2544244746, rs2544246713, rs137853162, rs137853163, rs1555545033, rs1987264133	RCV001730005 RCV002226809 RCV000172853 RCV000172854 RCV000172855 RCV003883313 RCV004595148 RCV000022800 RCV000022801 RCV003129944 RCV001281098	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental disorder	Likely pathogenic	rs2145087228	RCV001374899	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ABSENCE OF THYROID GLAND	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ATROPHY OF THYROID	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HYPOTHYROIDISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HYPOTHYROIDISM WITHOUT GOITER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC DUCTAL ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THRA-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	11314012		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	11420726, 2278973, 2491776, 3865620		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	LHGDN	17911173		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	28471274, 28911146, 36103385	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	28911146		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia, Macrocytic	Anemia	GENOMICS_ENGLAND_DG	27144938		★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	Pubtator	28471274	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	11378852		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	11378852		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	11378852		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	25540388, 40562893	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bone Diseases	Bone disease	Pubtator	36103385	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases, Developmental	Bone Disease	BEFREE	30760120		★☆☆☆☆ Found in Text Mining only
Bone Neoplasms	Bone neoplasm	Pubtator	23199169	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12082618, 2573734, 30410118, 7511052, 9695977		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	1976118, 21288332, 25934412, 33478016, 34930399	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	19457610	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	29022645, 33761933	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	32533406	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	33846395	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	8460637		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	28272516		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	GWASCAT_DG	30804561		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	37535606	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Diseases	Colonic disease	Pubtator	36103385	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Polyps	Colonic polyps	Pubtator	2553781	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37535606	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Hypothyroidism	Congenital Hypothyroidism	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital omphalocele	Congenital omphalocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	27115768		★☆☆☆☆ Found in Text Mining only
Constipation	Constipation	Pubtator	28471274, 33198587, 34069457, 36103385	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	21654857		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	21654857		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	21654857		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	20724312		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	28471274, 33198587	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	30696455		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	32517091	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30696455		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	24914936, 28471274		★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	22168587, 22494134, 22604720, 23633213, 23940126, 24969835, 25670821, 26037512, 27144938		★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	CTD_human_DG	22138541		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	CTD_human_DG	22138541		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Generalized Thyroid Hormone Resistance	Thyroid Hormone Resistance	BEFREE	25231448, 26037512, 26743578, 26782358, 27809680, 28471274, 28527577, 28853052, 28911146, 2905763, 29205102, 30595106, 30747412, 30760120, 7796935, 8408473, 8954015		★☆☆☆☆ Found in Text Mining only
Generalized Thyroid Hormone Resistance	Thyroid Hormone Resistance	GENOMICS_ENGLAND_DG	27144938		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	28471274		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	28471274, 36103385	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	27115768		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	21654857		★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	BEFREE	27066791		★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	Pubtator	34069457	Associate	★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	19094093, 25670821, 26743578, 27066791, 27115768, 27519547, 28527577, 28853052, 28910278, 30747412, 31585438		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	Pubtator	25079464, 34069457	Associate	★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6	Congenital hypothyroidism, nongoitrous	UNIPROT_DG	22168587, 24969835, 25670821, 26037512		★☆☆☆☆ Found in Text Mining only
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6	Congenital hypothyroidism, nongoitrous	GENOMICS_ENGLAND_DG	22494134, 27144938		★☆☆☆☆ Found in Text Mining only
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6	Congenital hypothyroidism, nongoitrous	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6	Congenital hypothyroidism, nongoitrous	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	34069457	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	8408473		★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	28583788		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	29022645	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	2491776	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	1701231		★☆☆☆☆ Found in Text Mining only
Leukodystrophy Hypomyelinating with Hypodontia and Hypogonadotropic Hypogonadism	Hypomyelinating leukodystrophy	Pubtator	28471274	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	18467449		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	2536219		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	BEFREE	25670821		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	GENOMICS_ENGLAND_DG	27144938		★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12082618, 1976118, 30410118, 7511052, 9695977		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	8460637		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	11741739		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	12231529, 15767343		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12668276, 2896628		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	12082618		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	7511052		★☆☆☆☆ Found in Text Mining only
Meniere Disease	Meniere Disease	BEFREE	27311766		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	8408473		★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	22168587, 22494134, 22604720, 23633213, 23940126, 24969835, 25670821, 26037512, 27144938		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia gravis	Pubtator	30734484	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	11104565, 12127686		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12668276, 1568230, 1976118, 2553781, 7511052, 8692204, 9143412		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	BEFREE	28272516		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	31303139		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	2491776, 2491783, 2896628, 2896631		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	23399772		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	25079464, 25622596	Associate	★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	BEFREE	24914936, 28471274		★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	GENOMICS_ENGLAND_DG	27144938		★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasias	Pubtator	9463328	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	8460637		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	32533406	Associate	★☆☆☆☆ Found in Text Mining only
Relative macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha	Resistance To Thyroid Hormone	Orphanet			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	11378852		★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	BEFREE	24914936, 28471274		★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	GENOMICS_ENGLAND_DG	27144938		★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	2536219		★☆☆☆☆ Found in Text Mining only
Sporadic Breast Carcinoma	Breast Carcinoma	BEFREE	7511052		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	11741739		★☆☆☆☆ Found in Text Mining only
Thrombasthenia	Thrombasthenia	BEFREE	9695977		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	26810418	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	12231529, 15767343		★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	BEFREE	28583788		★☆☆☆☆ Found in Text Mining only
Thyroid Hormone Resistance Syndrome	Thyroid Hormone Resistance	BEFREE	25670821, 30747412, 8408473		★☆☆☆☆ Found in Text Mining only
Thyroid Hormone Resistance Syndrome	Thyroid hormone resistance	Pubtator	28471274, 33198587, 36103385, 39299378	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	12231529, 15767343		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	LHGDN	12231529		★☆☆☆☆ Found in Text Mining only
Van Buchem disease	Van Buchem Disease	BEFREE	9463328		★☆☆☆☆ Found in Text Mining only