Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	THRA
Previous Symbol	THRA1, THRA2, ERBA1
Symbol Alias	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1
Approved Name	thyroid hormone receptor, alpha
Previous Name	thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog), "thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"
Location	17q21.1
Position	chr17:40058290-40093867, 1
External Links	HGNC: 11796 Entrez Gene: 7067 Ensembl: ENSG00000126351 UCSC: uc002htw.3
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	YES

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Kripke, D. F.,2009	SNP: rs939348	Significant association was observed in the BP group.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 43)

GO terms by PBA (count: 6)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0003700	sequence-specific DNA binding transcription factor activity	molecular function	IDA[18052923]	66
GO:0019904	protein domain specific binding	molecular function	IPI[9653119]	24
GO:0043565	sequence-specific DNA binding	molecular function	IEA	29
GO:0030522	intracellular receptor signaling pathway	biological process	IDA[15466465]; IEA	8
GO:0005634	nucleus	cellular component	IDA[19158403]	283
GO:0003707	steroid hormone receptor activity	molecular function	IEA	10

GO terms by database search (count: 37)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0050994	regulation of lipid catabolic process	biological process	IEA	1
GO:0008134	transcription factor binding	molecular function	IPI[8524305]	28
GO:0001502	cartilage condensation	biological process	IEA	2
GO:0044212	transcription regulatory region DNA binding	molecular function	IDA[18052923]	17
GO:0006367	transcription initiation from RNA polymerase II promoter	biological process	TAS	20
GO:0070324	thyroid hormone binding	molecular function	IDA[15466465]; IPI[2879243]	2
GO:0001503	ossification	biological process	IEA	5
GO:0005829	cytosol	cellular component	IDA[19158403]	223
GO:0017055	negative regulation of RNA polymerase II transcriptional preinitiation complex assembly	biological process	IDA[8524305]	1
GO:0042994	cytoplasmic sequestering of transcription factor	biological process	IEA	2
GO:0032403	protein complex binding	molecular function	IEA	16
GO:0008016	regulation of heart contraction	biological process	IEA	5
GO:0045925	positive regulation of female receptivity	biological process	IEA	1
GO:0005654	nucleoplasm	cellular component	TAS	163
GO:0017025	TBP-class protein binding	molecular function	IDA[8524305]	1
GO:0005515	protein binding	molecular function	IPI[10866662]	563
GO:0008050	female courtship behavior	biological process	IEA	1
GO:0045892	negative regulation of transcription, DNA-templated	biological process	IDA[8710870]	43
GO:0031490	chromatin DNA binding	molecular function	IEA	7
GO:0006366	transcription from RNA polymerase II promoter	biological process	IDA[8710870]	31
GO:0033032	regulation of myeloid cell apoptotic process	biological process	IEA	1
GO:0030878	thyroid gland development	biological process	IEA	3
GO:0006357	regulation of transcription from RNA polymerase II promoter	biological process	IDA[18052923]	21
GO:0010831	positive regulation of myotube differentiation	biological process	IEA	2
GO:0043401	steroid hormone mediated signaling pathway	biological process	IEA	10
GO:0002155	regulation of thyroid hormone mediated signaling pathway	biological process	IEA	1
GO:2000143	negative regulation of DNA-templated transcription, initiation	biological process	IDA[8524305]	1
GO:0030218	erythrocyte differentiation	biological process	IEA	3
GO:0009409	response to cold	biological process	IEA	7
GO:0007611	learning or memory	biological process	IEA	13
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	biological process	IEA	91
GO:0008270	zinc ion binding	molecular function	IEA	77
GO:0004887	thyroid hormone receptor activity	molecular function	IDA[15466465]	1
GO:0010467	gene expression	biological process	TAS	41
GO:0009755	hormone-mediated signaling pathway	biological process	IDA[18052923]	5
GO:0060509	Type I pneumocyte differentiation	biological process	IEA	3
GO:0002153	steroid receptor RNA activator RNA binding	molecular function	IEA	1

Gene related KEGG pathways (count: 1)

KEGG pathways by PBA (count: 0)

KEGG pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04080	Neuroactive ligand-receptor interaction	92

Gene related BioCarta pathways (count: 1)

BioCarta pathways by PBA (count: 0)

BioCarta pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
egfr_smrtePathway	Map Kinase Inactivation of SMRT Corepressor	3

Gene related interactors from protein-protein interactions data in HPRD (count: 27)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
THRA	AKAP13	NO	in vitro;in vivo	9627117
THRA	NSD1	NO	in vitro	9628876
THRA	RXRG	NO	in vitro	8127707
THRA	MED1	NO	in vitro;in vivo	9653119
THRA	POU2F1	NO	in vivo	10480874
THRA	GTF2B	NO	in vitro	7609079
THRA	BTG1	NO	in vitro;in vivo	15674337
THRA	RXRA	NO	in vitro;yeast 2-hybrid	1331778 , 15604093
THRA	MEF2A	NO	in vivo	12371907
THRA	HDAC2	NO	in vitro	10508171
THRA	SRC	NO	in vitro	15140878
THRA	OASL	NO	yeast 2-hybrid	7776974
THRA	CCND1	NO	in vivo	12048199
THRA	SLC16A2	NO	in vitro;in vivo	12871948
THRA	NCOA6	YES	in vitro;yeast 2-hybrid	10866662 , 11158331
THRA	NCOR1	NO	yeast 2-hybrid	15604093
THRA	NCOA1	NO	in vitro	15249124
THRA	RXRB	NO	in vitro	1331778
THRA	NR2F1	NO	in vitro	1331778
THRA	CDK7	NO	yeast 2-hybrid	15249124
THRA	FUS	NO	in vitro	9440806
THRA	COPS2	NO	in vitro;in vivo;yeast 2-hybrid	10207062
THRA	MED21	NO	in vitro;yeast 2-hybrid	15249124
THRA	CUL1	YES	yeast 2-hybrid	15604093
THRA	TDG	YES	in vitro	12874288
THRA	PML	NO	in vivo	10610177
THRA	RGN	NO	yeast 2-hybrid	15604093

Related other genetic factors

Gene related SNPs (count: 7)

Literature-origin SNPs (count: 5)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs3744805	chr17:40092101 - 40092101(1)	3_prime_UTR_variant; downstream_gene_variant; intron_variant	1(0/1/0)
rs2269457	chr17:40098436 - 40098436(1)	downstream_gene_variant; intron_variant	1(1/0/0)
rs2314339	chr17:40096959 - 40096959(1)	downstream_gene_variant; intron_variant	1(1/0/0)
rs2071427	chr17:40098239 - 40098239(1)	downstream_gene_variant; intron_variant	3(1/2/0)
rs939348	chr17:40075600 - 40075600(1)	intron_variant	1(1/0/0)

LD-proxies (count: 2)

rs_ID	Literature-origin SNPs with LD	Location	Functional Annotation
rs883871		chr17:40096407 - 40096407(1)	downstream_gene_variant; intron_variant
rs1879265		chr17:40075123 - 40075123(1)	intron_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 5)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
17p12-q21.33	chr17:10800000-52100000	1 (0/1/0)
17q21	chr17:39800000-52100000	1 (0/1/0)
17q11-q23	chr17:25100000-64600000	1 (0/1/0)
17q11-25	chr17:25100000-83257441	1 (1/0/0)
Chr 17	chr17:0-83257441	3 (0/3/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 0)

Overlap with MDD from candidate gene intersection analysis (count: 1)

Reference	Description	Category in MDD	Link in MK4MDD
18068248	Genes differentially expressed in major depression	Pos	THRA

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Region: chr17:40058290..40093867 View in gBrowse