Gene Report

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Basic Info

Approved Symbol	TSHR
Symbol Alias	LGR3
Approved Name	thyroid stimulating hormone receptor
Location	14q24-q31
Position	chr14:80954989-81146302, 1
External Links	HGNC: 12373 Entrez Gene: 7253 Ensembl: ENSG00000165409 UCSC: uc001xvd.1
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Noor A., 2014		A duplication of 5 (or 6, depending on isoform) out of 10 coding exons of the thyroid stimulating hormone receptor gene, TSHR, was identified in another BD case.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 15)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0007399	nervous system development	biological process	IBA	40
GO:0005887	integral component of plasma membrane	cellular component	TAS[8552586]	158
GO:0043235	receptor complex	cellular component	IDA[23382219]	20
GO:0005886	plasma membrane	cellular component	TAS	360

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0007190	activation of adenylate cyclase activity	biological process	IBA	12
GO:0008528	G-protein coupled peptide receptor activity	molecular function	IBA	1
GO:0004996	thyroid-stimulating hormone receptor activity	molecular function	IEA	2
GO:0007186	G-protein coupled receptor signaling pathway	biological process	TAS[8552586]	64
GO:0005515	protein binding	molecular function	IPI[15775968]	563
GO:0007187	G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	biological process	TAS[8552586]	17
GO:0007267	cell-cell signaling	biological process	TAS[7920658]	29
GO:0007189	adenylate cyclase-activating G-protein coupled receptor signaling pathway	biological process	IBA	11
GO:0009755	hormone-mediated signaling pathway	biological process	IBA	5
GO:0008284	positive regulation of cell proliferation	biological process	TAS[7920658]	44
GO:0038194	thyroid-stimulating hormone signaling pathway	biological process	IEA; TAS[8552586]	2

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in BDgene	Brief Description
hsa05320	Autoimmune thyroid disease	6
hsa04080	Neuroactive ligand-receptor interaction	92

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 18)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
TSHR	GNA11	NO	in vivo	8552586
TSHR	GNA13	NO	in vivo	8552586
TSHR	GNAI2	YES	in vivo	8552586
TSHR	STAT3	NO	in vitro;in vivo	10809230
TSHR	HSPA5	YES	in vitro;in vivo	12383251
TSHR	RABAC1	NO	yeast 2-hybrid	14604818
TSHR	CALR	NO	in vitro;in vivo	12383251
TSHR	GNAQ	NO	in vivo	8188646
TSHR	FN1	NO	in vivo	11981027
TSHR	GNAI1	NO	in vivo	8552586
TSHR	GNAI3	NO	in vivo	8552586
TSHR	TSHB	NO	in vivo	2558651
TSHR	GNAO1	NO	in vivo	8552586
TSHR	LHCGR	NO	in vitro	1651314
TSHR	JAK2	NO	in vivo	10809230
TSHR	CANX	NO	in vivo	12383251
TSHR	FLNB	NO	in vitro;in vivo	8327473
TSHR	JAK1	YES	in vitro;in vivo	10809230

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Abdul Noor[2014]_19	chr14:80620641-80648455 (NCBI Build 36/hg18)	27000	14q31.1	duplication

Gene related other variants (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
14q24.1-q32.12	chr14:67400000-94200000	1 (0/0/1)
Chr 14	chr14:0-107043718	2 (0/2/0)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr14:80954989..81146302 View in gBrowse