• Gene id: 7068

Gene Summary

• Gene Symbol: THRB   Gene   UCSC   Ensembl
• Aliases: C-ERBA-2, C-ERBA-BETA, ERBA2, GRTH, NR1A2, PRTH, THR1, THRB1, THRB2
• Gene name: thyroid hormone receptor beta
• Alternate names: thyroid hormone receptor beta, nuclear receptor subfamily 1 group A member 2, oncogene ERBA2, thyroid hormone nuclear receptor beta variant 1, thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian),
• Gene location: 3p24.2 (24495280: 24117152)     Exons: 17     NC_000003.12
• Gene summary(Entrez): 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
• OMIM: 190160

Protein Summary

• Protein general information: P10828  
  • Name: Thyroid hormone receptor beta (Nuclear receptor subfamily 1 group A member 2) (c erbA 2) (c erbA beta)
  • Length: 461  
  • Mass: 52,788
• Sequence:

  MTPNSMTENGLTAWDKPKHCPDREHDWKLVGMSEACLHRKSHSERRSTLKNEQSSPHLIQTTWTSSIFHLDHDDV
  NDQSVSSAQTFQTEEKKCKGYIPSYLDKDELCVVCGDKATGYHYRCITCEGCKGFFRRTIQKNLHPSYSCKYEGK
  CVIDKVTRNQCQECRFKKCIYVGMATDLVLDDSKRLAKRKLIEENREKRRREELQKSIGHKPEPTDEEWELIKTV
  TEAHVATNAQGSHWKQKRKFLPEDIGQAPIVNAPEGGKVDLEAFSHFTKIITPAITRVVDFAKKLPMFCELPCED
  QIILLKGCCMEIMSLRAAVRYDPESETLTLNGEMAVTRGQLKNGGLGVVSDAIFDLGMSLSSFNLDDTEVALLQA
  VLLMSSDRPGLACVERIEKYQDSFLLAFEHYINYRKHHVTHFWPKLLMKVTDLRMIGACHASRFLHMKVECPTEL
  FPPLFLEVFED

• Structural information:
  • Protein Domains: NR (217-461)
  • Interpro: IPR035500  IPR000536  IPR001723  IPR001728  IPR001628   IPR013088  
  • Prosite: PS51843 PS00031 PS51030
  • PDB: 1BSX 1N46 1NAX 1NQ0 1NQ1 1NQ2 1NUO 1Q4X 1R6G 1XZX 1Y0X 2J4A 2NLL 2PIN 3D57 3GWS 3IMY 3JZC 4ZO1
  • PDBsum: 1BSX 1N46 1NAX 1NQ0 1NQ1 1NQ2 1NUO 1Q4X 1R6G 1XZX 1Y0X 2J4A 2NLL 2PIN 3D57 3GWS 3IMY 3JZC 4ZO1
  • DIP: 5991
  • STRING: ENSP00000348827
• Other Databases: GeneCards:  THRB  Malacards:  THRB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0000790	nuclear chromatin	IEA	cellular component
GO:0003677	DNA binding	TAS	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	NAS	molecular function
GO:0003707	steroid hormone receptor activity	IEA	molecular function
GO:0003714	transcription corepressor activity	TAS	molecular function
GO:0004887	thyroid hormone receptor activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006351	transcription, DNA-templated	TAS	biological process
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0007605	sensory perception of sound	IEA	biological process
GO:0007621	negative regulation of female receptivity	IEA	biological process
GO:0008016	regulation of heart contraction	IEA	biological process
GO:0008050	female courtship behavior	IEA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0009887	animal organ morphogenesis	IEA	biological process
GO:0019899	enzyme binding	IPI	molecular function
GO:0030522	intracellular receptor signaling pathway	IEA	biological process
GO:0031490	chromatin DNA binding	IEA	molecular function
GO:0043401	steroid hormone mediated signaling pathway	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0060509	Type I pneumocyte differentiation	IEA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070324	thyroid hormone binding	IDA	molecular function
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0000790	nuclear chromatin	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	TAS	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IEA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	NAS	molecular function
GO:0003707	steroid hormone receptor activity	IEA	molecular function
GO:0003714	transcription corepressor activity	TAS	molecular function
GO:0004887	thyroid hormone receptor activity	IEA	molecular function
GO:0004887	thyroid hormone receptor activity	IDA	molecular function
GO:0004887	thyroid hormone receptor activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006351	transcription, DNA-templated	TAS	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006357	regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0007605	sensory perception of sound	IEA	biological process
GO:0007621	negative regulation of female receptivity	IEA	biological process
GO:0008016	regulation of heart contraction	IEA	biological process
GO:0008050	female courtship behavior	IEA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0009887	animal organ morphogenesis	IEA	biological process
GO:0019899	enzyme binding	IPI	molecular function
GO:0030522	intracellular receptor signaling pathway	IEA	biological process
GO:0031490	chromatin DNA binding	IEA	molecular function
GO:0043401	steroid hormone mediated signaling pathway	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0060509	Type I pneumocyte differentiation	IEA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070324	thyroid hormone binding	IDA	molecular function
GO:0003677	DNA binding	TAS	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	NAS	molecular function
GO:0003714	transcription corepressor activity	TAS	molecular function
GO:0004887	thyroid hormone receptor activity	IDA	molecular function
GO:0004887	thyroid hormone receptor activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006351	transcription, DNA-templated	TAS	biological process
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0019899	enzyme binding	IPI	molecular function
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070324	thyroid hormone binding	IDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04080	Neuroactive ligand-receptor interaction
hsa04919	Thyroid hormone signaling pathway

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Azoospermia	MIK: 17848414
Male infertility	MIK: 17848414
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 15096601
Male infertility	MIK: 24168058
Spermatogenesis impairment	MIK: 16293649
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17848414	Azoospermia, male infertility	R242H in exon 8, silent mutation in exon11	Japanes e	243 (143 NOA, 100 fertile Japanese men)	Male infertility	GRTH DDX25
16293649	Spermatogenesis impairment	IVS6+55G-->T, ISV8+10A-->C, c.852C-->T and c.927G-->A,		548 (347 infertile patients with idiopathic azoospermia and severe oligozoospermia, 201 fertile men)	Male infertility
20176059	Essential to govern the CB structure in spermatids and to maintain systems that may participate in mRNA storage and their processing during spermatogenesis				Male infertility
15096601	Essential for completion of spermatogenesis, provides insights into intrinsic requirements for spermiogenesis, and establishes a model for studies of male infertility and contraception				Male infertility
24168058	Male infertility				Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq