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THRB (thyroid hormone receptor beta)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7068
Gene nameGene Name - the full gene name approved by the HGNC.
Thyroid hormone receptor beta
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
THRB
SynonymsGene synonyms aliases
C-ERBA-2, C-ERBA-BETA, ERBA2, GRTH, NR1A2, PRTH, THR1, THRB1, THRB2, THRbeta, THRbeta1, TRb, TRbeta, TRbeta1, Thrbeta2
ChromosomeChromosome number
3
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p24.2
SummarySummary 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
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs28933408 G>A,C,T Pathogenic Missense variant, coding sequence variant
rs28999969 C>T Pathogenic, conflicting-interpretations-of-pathogenicity Intron variant, missense variant, coding sequence variant
rs28999970 C>A,T Pathogenic Intron variant, missense variant, coding sequence variant
rs28999971 C>T Pathogenic Intron variant, missense variant, coding sequence variant
rs121918686 C>A,G,T Pathogenic, likely-pathogenic Missense variant, intron variant, coding sequence variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT005425 hsa-miR-27a-3p Luciferase reporter assay, Northern blot, Western blot 21149577
MIRT005425 hsa-miR-27a-3p Luciferase reporter assay, Northern blot, Western blot 21149577
MIRT005524 hsa-miR-204-5p Luciferase reporter assay, qRT-PCR, Western blot 20691260
MIRT005524 hsa-miR-204-5p Luciferase reporter assay, qRT-PCR, Western blot 20691260
MIRT054752 hsa-miR-155-5p Luciferase reporter assay, Real time PCR 24849932
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 21873635
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0001225 Function RNA polymerase II transcription coactivator binding IPI 9368056
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID P10828
Protein name Thyroid hormone receptor beta (Nuclear receptor subfamily 1 group A member 2) (c-erbA-2) (c-erbA-beta)
Protein 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|Pub
PDB 1BSX , 1N46 , 1NAX , 1NQ0 , 1NQ1 , 1NQ2 , 1NUO , 1Q4X , 1R6G , 1XZX , 1Y0X , 2J4A , 2NLL , 2PIN , 3D57 , 3GWS , 3IMY , 3JZC , 4ZO1 , 6KKB , 6KKE , 6KNU , 6KNV , 6KNW , 7WLX , 7WMG , 7WMH , 7WMJ , 7WML , 7WMN , 7WMO , 8RQN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00105 zf-C4
105 176
Zinc finger, C4 type (two domains)
Domain
PF00104 Hormone_recep
264 445
Ligand-binding domain of nuclear hormone receptor
Domain
Sequence
MTPNSMTENGLTAWDKPKHCPDREHDWKLVGMSEACLHRKSHSERRSTLKNEQSSPHLIQ
TTWTSSIFHLDHDDVNDQSVSSAQTFQTEEKKCKGYIPSYLDKDELCVVCGDKATGYHYR
CITCEGCKGFFRRTIQKNLHPSYSCKYEGKCVIDKVTRNQCQECRFKKCIYVGMAT
DLVL
DDSKRLAKRKLIEENREKRRREELQKSIGHKPEPTDEEWELIKTVTEAHVATNAQGSHWK
QKRKFLPEDIGQAPIVNAPEGGKVDLEAFSHFTKIITPAITRVVDFAKKLPMFCELPCED
QIILLKGCCMEIMSLRAAVRYDPESETLTLNGEMAVTRGQLKNGGLGVVSDAIFDLGMSL
SSFNLDDTEVALLQAVLLMSSDRPGLACVERIEKYQDSFLLAFEHYINYRKHHVTHFWPK
LLMKVTDLRMIGACHASRFLHMKVE
CPTELFPPLFLEVFED
Sequence length 461
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Neuroactive ligand-receptor interaction
Hormone signaling
Thyroid hormone signaling pathway
  Nuclear Receptor transcription pathway
SUMOylation of intracellular receptors
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Atrial fibrillation Atrial Fibrillation rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557, rs587777558, rs587777559, rs587777560, rs886037778, rs769405762, rs770372675 30061737, 29892015
Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder rs120074176, rs786205019
Hearing loss Sensorineural Hearing Loss (disorder) rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Hyperthyroidism Hyperthyroidism rs121908861, rs121908864, rs121908874, rs121908875, rs121908876, rs121908877, rs121908873, rs121908880, rs121908883, rs121909258, rs6256, rs869312167
Unknown
Disease name Disease term dbSNP ID References
Congenital exomphalos Congenital exomphalos
Congenital pectus carinatum Congenital pectus carinatum
Dyssomnia Dyssomnias
Follicular thyroid carcinoma Follicular thyroid carcinoma 27440272

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