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THRB Gene

protein-coding GIFtS: 69

GC03M024139

thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)
(Previous names: thyroid hormone receptor, beta (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: ERBA2)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
ERBA-BETA ^¹, ²
ERBA2 ^², ³, ⁵
GRTH ^¹, ²
MGC126109 ^²
MGC126110 ^²
NR1A2 ^¹, ², ³
OTTHUMP00000161044 ^²
PRTH ^², ⁵
THR1 ^¹, ², ³, ⁵
THRB1 ^¹, ²
THRB2 ^¹, ²

Descriptions
Nuclear receptor subfamily 1 group A member 2 ^³
avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2 ^²
oncogene ERBA2 ^²
thyroid hormone receptor beta 1 ^²
thyroid hormone receptor beta isoform ^²
thyroid hormone receptor, beta ^²
thyroid hormone receptor, beta (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2) ^¹
thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian) ^²

External Ids
HGNC: 11799¹
Entrez Gene: 7068²
UniProtKB: P10828³
Ensembl: ENSG00000151090⁷

Search outside databases for aliases for THRB gene

Previous GC identifers: GC03M023830 GC03M024013 GC03M024138

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for THRB:

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 the different receptors, while having

certain extent of redundancy, may mediate different functions of thyroid hormone. Mutations in

this gene are known to be a cause of generalized thyroid hormone resistance (GTHR), a syndrome

characterized by goiter and high levels of circulating thyroid hormone (T3-T4), with normal or

slightly elevated thyroid stimulating hormone (TSH). Several alternatively spliced transcript

variants encoding the same protein have been observed for this gene. [provided by RefSeq]

UniProtKB/Swiss-Prot: THB_HUMAN, P10828

Function: High affinity receptor for triiodothyronine

Gene Wiki entry for THRB (Thyroid_hormone_receptor_beta)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the THRB gene

Entrez Gene cytogenetic band: 3p24.2 Ensembl cytogenetic band: 3p24.2 HGNC cytogenetic band: 3p24.1-p22

THRB Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03M024139: (about GC identifiers)

Start:	24,134,709 bp from pter
End:	24,511,317 bp from pter
Size:	376,609 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000003.10 NT_022517.17

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: THB_HUMAN, P10828 (See protein sequence)

Recommended Name: Thyroid hormone receptor beta

Size: 461 amino acids; 52788 Da

Subunit: Interacts with NOCA7 in a ligand-inducible manner. Interacts with C1D (By similarity)

Subcellular location: Nucleus

PDB structures from and Proteopedia :

1BSX (3D)

1N46 (3D)

1NAX (3D)

1NQ0 (3D)

1NQ1 (3D)

1NQ2 (3D)

1NUO (3D)

1Q4X (3D)

1R6G (3D)

1XZX (3D)

1Y0X (3D)

2J4A (3D)

2NLL (3D)

2PIN (3D)

3D57 (3D)

3GWS (3D)

Secondary accessions: P37243 Q13986 Q3KP35 Q6WGL2

Alternative splicing: 2 isoforms: P10828-1 P10828-2, P37243-1

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (3 alternative transcripts):

NP_000452.2 NP_001121648.1 NP_001121649.1

ENSEMBL proteins:

ENSP00000379904 ENSP00000280696 ENSP00000348827

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (Thyroid Hormone Receptor, Thyroid Hormone Receptor beta)
	Human Recombinant Proteins from Abnova (THRB)

OriGene Purified Recombinant Human Protein: THRB

1 Gene Ontology (GO) cellular component term (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	TAS	1618799

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Antibodies for THRB:

	Invitrogen Antibodies for THRB
	Millipore Mono- and Polyclonal Antibodies for the study of THRB
	Sigma-Aldrich Antibodies for THRB
	R&D Systems Antibodies for THRB (TR beta 1/NR1A2)
	Antibodies from Abcam (Thyroid Hormone Receptor, Thyroid Hormone Receptor beta), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (THRB)
	Novus Biologicals Antibodies for THRB

Assays for THRB:

	Invitrogen Assays for THRB
	Millipore Kits and Assays for the Analysis of THRB
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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Graphical View of Domain Structure for InterPro Entry P10828

ProtoNet protein and cluster: P10828

2 Blocks protein families:

IPB001723 Steroid hormone receptor signature

IPB001728 Thyroid hormone receptor signature

UniProtKB/Swiss-Prot: THB_HUMAN, P10828

Domain: Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a

C-terminal steroid-binding domain

Similarity: Belongs to the nuclear hormone receptor family. NR1 subfamily

Similarity: Contains 1 nuclear receptor DNA-binding domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (THRB)
		Millipore RNAi Products for the Analysis of THRB Gene knock-down
		Abnova Chimera RNAi Products for Gene knock-down (THRB)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_000461

Applied Biosystems Silencer® siRNAs for THRB

Sigma-Aldrich siRNA and siRNA Panels for THRB

Sigma-Aldrich shRNA Panels and shRNA for THRB

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for THRB
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_000461
Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_000461
untagged cDNA clones in CMV expression vector (see all 4): AK098084

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_001128176

UniProtKB/Swiss-Prot: THB_HUMAN, P10828

Function: High affinity receptor for triiodothyronine

Genatlas biochemistry entry for THRB:

thyroid hormone receptor,beta,essential for inner ear development,steroid/thyroid hormone receptor

superfamily

15/18 MGI mutant phenotypes (inferred from 11 alleles) (MGI details for Thrb) (see all 18 ):

	behavior/neurological	craniofacial	endocrine/exocrine gland	growth/size
hearing/vestibular/ear	homeostasis/metabolism	lethality-postnatal	life span-post-weaning/aging	limbs/digits/tail
muscle	nervous system	no phenotypic analysis	reproductive system	respiratory system

5/10 Gene Ontology (GO) molecular function terms (links to tree view) (see all 10 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003690	double-stranded DNA binding	IEA	--
GO:0003700	transcription factor activity	NAS	1618799
GO:0003707	steroid hormone receptor activity	IEA	--
GO:0003714	transcription corepressor activity	TAS	1618799
GO:0004887	thyroid hormone receptor activity	TAS	1618799

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for THRB (Your Favorite Gene powered by Ingenuity)

TR/RXR Activation

GeneDecks THRB for the pathways selected above

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Gene Network Central^TM Interacting Genes and Proteins Network for THRB

5/39 Interacting proteins for THRB (P10828^{1, 2} ENSP00000280696³) via UniProtKB, MINT, and/or STRING (see all 39 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PRMT2	P55345¹	EBI-78558, EBI-78458
NCOA1	ENSP00000320940³	STRING (score=.999)
RXRA	ENSP00000348749³	STRING (score=.996)
NCOA6	ENSP00000351894³	STRING (score=.994)
NCOR2	ENSP00000348551³	STRING (score=.991)

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5/9 Gene Ontology (GO) biological process terms (links to tree view) (see all 9 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006355	regulation of transcription, DNA-dependent	IEA	--
GO:0007605	sensory perception of sound	IEA	--
GO:0008016	regulation of heart contraction	IEA	--
GO:0009887	organ morphogenesis	IEA	--
GO:0016481	negative regulation of transcription	IEA	--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Sigma-Aldrich Small Molecules for THRB:

Antagonist Blocker

Browse Tocris compounds for THRB
10/15 Novoseek chemical compound relationships for THRB gene (see all 15 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
prt-h	91.04	5	7920008 (1), 10022392 (1), 9350446 (1), 9534036 (1) (see all 5)
triiodothyronine	74.03	2	17363077 (1), 19378427 (1)
desethylamiodarone	60.10	4	11007966 (2), 10350052 (1)
leucine	38.00	2	9849963 (1), 8990194 (1)
threonine	34.54	6	8786093 (1), 10710882 (1), 15133108 (1), 1502193 (1) (see all 5)
cytosine	34.00	1	17596672 (1)
phosphatidylinositol	32.44	2	16862226 (1), 16446424 (1)
steroid	23.71	4	19051350 (1), 12586842 (1)
methionine	10.75	2	8786093 (1), 15133108 (1)
proline	8.40	1	7593432 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (THRB)
		Millipore RNAi Products for the Analysis of THRB Gene knock-down
		Abnova Chimera RNAi Products for Gene knock-down (THRB)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_000461

Sigma-Aldrich siRNA and siRNA Panels for THRB

Sigma-Aldrich shRNA Panels and shRNA for THRB

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000461 NM_001128176 NM_001128177

REFSEQ mRNAs for THRB gene (3 alternative transcripts):

NM_000461.4 NM_001128176.1 NM_001128177.1

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000461 NM_001128176 NM_001128177

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_000461
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_000461
                                 untagged cDNA clones in CMV expression vector (see all 4): AK098084

Additional cDNA sequence:

AB307687.1 AK095776.1 AK096628.1 AK096885.1 AK098084.1 AK124042.1 AY286465.1 AY286466.1

AY286467.1 AY286468.1 AY286469.1 AY286470.1 AY286471.1 BC028910.1 BC106929.1 BC106930.1

M26747.1 X04707.1 X74497.1

11 DOTS entries:

DT.314132 DT.455589 DT.40131089 DT.102839051 DT.75190909 DT.100010665 DT.100775058 DT.40131088

DT.97825383 DT.120902200 DT.443533

24/100 AceView cDNA sequences (see all 100 ):

BC028910 AI863074 AL713041 AA258459 AI193412 AI767555 BQ879477 BU739344

NM_000461 AA704234 BM715006 AI192925 BU157865 AI312948 BF431989 AI590400

AV682743 BX489919 AY286466 AY286469 BV205284 X74497 CD250854 AI092215

highest scoring ESTs for THRB:

M26747 AK096628 AY286465 BQ879477 BU157865 X04707 AA017575 AA258389 AI767555 AL713041

Unigene Cluster for THRB:

Thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)

Hs.187861 [show with all ESTs]

Unigene Representative Sequence: NM_001128177

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for THRB

ExUns:	1	^	2	^	3	^	4a	·	4b	^	5	^	6	^	7	^	8	^	9	^	10	^	11	^	12a	·	12b
SP1:							-
SP2:					-
SP3:					-		-		-

About this scheme

ECgene alternative splicing isoforms for THRB

3 Ensembl transcripts including schematic representations:

ENST00000396671 ENST00000280696 ENST00000356447

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

THRB expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for THRB

¹ / ² / ³

11 probe-sets matching THRB gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
59647_at²^{, 3}	U95-B	1	1.00	1.00	0.94	1.13	AA702942	0.40	1.00	0.76	1
65078_at²^{, 3}	U95-C	1	1.00	1.00	0.84	1.42	N45320	0.60	1.00	0.82	1
46013_at²^{, 3}	U95-B	1	1.00	1.00	0.83	0.72	AA258389	0.60	1.00	0.82	1
2048_s_at²^{, 3}	U95-A	1	1.00	1.00	0.69	0.75	M26747	1.00	1.00	1.00	1
1428_at²^{, 3}	U95-A	1	1.00	1.00	-0.08	0.26	HG3313-HT3490	0.20	1.00	0.72	1
229657_at²^{, 3}	U133-B	1	1.00	1.00	--	--	BF431989	0.40	1.00	0.76	1
207044_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_000461	0.60	1.00	0.82	1
228716_at²^{, 3}	U133-B	1	1.00	1.00	--	--	BG494007	0.20	1.00	0.72	1
229657_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
207044_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
228716_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks THRB for binary patterns associated with the probe-sets selected above

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: AACTGAATTT

SOURCE GeneReport for Unigene cluster: Hs.187861
Expression variation in blood from EXPOLDB for THRB

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for THRB gene from 5/7 species (see all 7 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	THRB¹	--	thyroid hormone receptor, beta (erythroblastic leukemia more	95.15(n) 98.46(a)	403599 XM_857479.1 XP_862572.1
chimpanzee (Pan troglodytes)	THRB¹	--	thyroid hormone receptor, beta (erythroblastic leukemia more	99.71(n) 100(a)	470771 XM_001163850.1 XP_001163850.1
rat (Rattus norvegicus)	Thrb¹	--	thyroid hormone receptor beta	89.44(n) 95.88(a)	24831 NM_012672.1 NP_036804.1
mouse (Mus musculus)	Thrb^{1, 5}	14⁵	thyroid hormone receptor beta^{1, 5}	92.03(n)¹ 99.18(a)¹	21834¹ NM_009380.2¹ NP_033406.1¹ AB221613⁵ AK133662⁵ (see all 20)
chicken (Gallus gallus)	THRB¹	--	thyroid hormone receptor beta	87.74(n) 95.91(a)	396431 NM_205447.1 NP_990778.1

About this table Species with no ortholog for THRB

ENSEMBL Gene Tree for THRB

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for THRB gene

VDR² THRA² NR1I2² NR1I3²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/2361 NCBI SNPs in THRB are shown (see all 2361 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 771)

AB	SNP ID	Valid	Chr 3 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs1349265^1,2	A,C,F,H,O	24134391(-)	`ACTAAC/TGGAAT`	3	--	ut3¹		9	MN EU EA WA NA	964
	rs826375^1,2	A,C,F,H	24138968(+)	`CTCTGT/CTAACT`	3	--	ut3¹ ese³		13	MN EA NA EU WA	1238
	rs826374^1,2	A,C,F,H	24138925(+)	`CCCTAA/CAAGGC`	3	--	ut3¹		12	MN EU EA WA NA	1156
	rs3749376^1,2	A,C,F,H	24513271(-)	`CCCCCC/AGTTAG`	1	--	ng3¹		5	EA EU WA	1908
	rs844107^1,2	A,C,F,H	24138025(-)	`CAAACG/AGTGAC`	3	--	ut3¹		14	MN EA EU WA NA	2866
	rs2167116^1,2	A,C,F,H	24134012(-)	`tctcaC/Ttggcc`	3	--	ut3¹		4	EU EA WA	420
	rs826373^1,2	A,C,F	24138777(+)	`CATAAC/GGTTAT`	3	--	ut3¹		4	MN NA	322
	rs17014136^1,2	C,F,H	24133651(+)	`ACTTTC/TTTTGG`	3	--	ut3¹		7	NA EU EA WA	562
	rs826371^1,2	A,C,F	24138649(+)	`AGTCAC/GTGACA`	3	--	ut3¹ ese³		1	MN	184
	rs826372^1,2	A,C,F	24138709(+)	`CTTGTT/CGGCCT`	3	--	ut3¹ ese³		1	MN	184

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HapMap Linkage Disequilibrium images for THRB (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
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OMIM: 190160 disorders: 188570 274300 145650

UniProtKB/Swiss-Prot: THB_HUMAN, P10828

Defects in THRB are the cause of generalized thyroid hormone resistance (GTHR)

[MIM:188570, 274300]. GTHR is transmitted as an autosomal dominant trait, but an autosomal

recessive form also exists. The disease is characterized by 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. GTHR patients also have high levels of circulating thyroid hormones

(T3-T4), with normal or slightly elevated thyroid stimulating hormone (TSH)

Defects in THRB are the cause of selective pituitary thyroid hormone resistance (PRTH)

[MIM:145650]; also called familial hyperthyroidism due to inappropriate thyrotropin secretion.

PRTH is a 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

10/18 Novoseek disease relationships for THRB gene (see all 18 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
thyroid hormone resistance	96.96	28	15031774 (2), 8054858 (1), 15913586 (1), 17596672 (1) (see all 26)
goiter	69.71	1	11167935 (1)
thyroid follicular carcinoma	68.71	6	17653082 (1), 18997818 (1), 18474620 (1), 16314832 (1) (see all 5)
follicular thyroid cancer	65.87	1	16002527 (1)
thyroid cancer	56.62	5	12429043 (1), 17210745 (1), 18474620 (1), 16002527 (1) (see all 5)
thyroid diseases	46.11	1	15860414 (1)
attention-deficit hyperactivity disorder	38.28	1	8200958 (1)
autoimmune thyroid disease	37.40	1	19169471 (1)
short stature	22.76	1	8837325 (1)
graves disease	19.68	2	8748133 (2)

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Human Gene Mutation Database: THRB
Genetic Association Database: THRB
Human Genome Epidemiology Navigator: THRB (96 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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10/302 PubMed articles for THRB gene (see all 302 ):

Structural analysis of human thyroid hormone receptor beta gene. (PubMed id 1973914)^{2, 3, 4} Sakurai A.... Degroot L.J. (1990)
Multiple messenger ribonucleic acid variants regulate cell-specific expression of human thyroid hormone receptor beta1. (PubMed id 15105435)^{1, 3, 4} Frankton S.... Williams G.R. (2004)
T426I a new mutation in the thyroid hormone receptor gene in a sporadic patient with resistance to thyroid hormone and dysmorphism. (PubMed id 10660344)^{1, 3, 4} Menzaghi C.... de Filippis V. (1998)
A new point mutation (C446R) in the thyroid hormone receptor-beta gene of a family with resistance to thyroid hormone. (PubMed id 8175986)^{1, 3, 4} Weiss R.E....Refetoff S. (1994)
Identical mutations in unrelated families with generalized resistance to thyroid hormone occur in cytosine-guanine-rich areas of the thyroid hormone receptor beta gene. Analysis of 15 families. (PubMed id 8514853)^{1, 3, 4} Weiss R.E.... Refetoff S. (1993)
A point mutation in the 3,5,3'-triiodothyronine-binding domain of thyroid hormone receptor-beta associated with a family with generalized resistance to thyroid hormone. (PubMed id 1619012)^{1, 3, 4} Shuto Y.... Okazaki T. (1992)
Functional properties of a novel mutant thyroid hormone receptor in a family with generalized thyroid hormone resistance syndrome. (PubMed id 1563081)^{1, 3, 4} Adams M.... Chatterjee V.K.K. (1992)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{3, 4} Gerhard D.S....Malek J. (2004)
Polymorphisms in thyroid hormone pathway genes are associated with plasma TSH and iodothyronine levels in healthy subjects. (PubMed id 12788902)^{3, 6} Peeters R.P.... Visser T.J. (2003)
ERAP140, a conserved tissue-specific nuclear receptor coactivator. (PubMed id 11971969)^{3, 4} Shao W.... Brown M. (2002)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 7068	HGNC: 11799	AceView: THRB	Ensembl:ENSG00000151090	euGenes: HUgn7068
ECgene: THRB	H-InvDB: THRB

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
ATLAS Chromosomes in Cancer entry for THRB	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.genetests.org/query?gene=THRB

Licensable Technologies for THRB
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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
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Enzo Life Sciences, and/or Tocris Bioscience)
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Products for THRB:

TaqMan ® Gene Expression Assays

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Free SNP selection tool

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THRB Gene at Home site.
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THRB Gene

protein-coding GIFtS: 69

Aliases &
Descriptions
for THRB

Summaries
for THRB

Genomic Location
for THRB

Proteins
for THRB

Protein Domains/
Families
for THRB

Gene Function
for THRB

Pathways & Interactions
for THRB

Drugs & Compounds
for THRB

Transcripts
for THRB

Expression
for THRB

Orthologs
for THRB

Paralogs
for THRB

SNPs/Variants
for THRB

Disorders & Mutations
for THRB

Medical News
for THRB

Publications
for THRB

Search for THRB

Genome Databases showing THRB

Other Databases showing THRB

Specialized Databases showing THRB

Licensable Technologies
for THRB

Services
for THRB

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

THRB (Gene Symbol)
ERBA-BETA
ERBA2
GRTH
MGC126109
MGC126110
NR1A2
OTTHUMP00000161044
PRTH
THR1
THRB1
THRB2
Nuclear receptor subfamily 1 group A member 2
avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2
oncogene ERBA2
thyroid hormone receptor beta 1
thyroid hormone receptor beta isoform
thyroid hormone receptor, beta
thyroid hormone receptor, beta (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2)
thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)

THRB Gene

protein-coding GIFtS: 69

Aliases & Descriptionsfor THRB

Summariesfor THRB

Genomic Locationfor THRB

Proteinsfor THRB

Protein Domains/Familiesfor THRB

Gene Functionfor THRB

Pathways & Interactionsfor THRB

Drugs & Compoundsfor THRB

Transcriptsfor THRB

Expression for THRB

Orthologsfor THRB

Paralogsfor THRB

SNPs/Variantsfor THRB

Disorders & Mutationsfor THRB

Medical Newsfor THRB

Publicationsfor THRB

Search for THRB

Genome Databases showing THRB

Other Databases showing THRB

Specialized Databases showing THRB

Licensable Technologiesfor THRB

Servicesfor THRB

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for THRB

Summaries
for THRB

Genomic Location
for THRB

Proteins
for THRB

Protein Domains/
Families
for THRB

Gene Function
for THRB

Pathways & Interactions
for THRB

Drugs & Compounds
for THRB

Transcripts
for THRB

Expression
for THRB

Orthologs
for THRB

Paralogs
for THRB

SNPs/Variants
for THRB

Disorders & Mutations
for THRB

Medical News
for THRB

Publications
for THRB

Licensable Technologies
for THRB

Services
for THRB