Gene Report

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Basic Info

Approved Symbol	GPR50
Symbol Alias	H9, Mel1c
Approved Name	G protein-coupled receptor 50
Location	Xq28
Position	chrX:151176653-151181465, 1
External Links	HGNC: 4506 Entrez Gene: 9248 Ensembl: ENSG00000102195 UCSC: uc010ntg.2
No. of Studies	3 (Positive: 2; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 3)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Alaerts, M., 2006	Other variant: GPR50_delta502-505	No significant association was detected in the Northern Swedish association sample.	Negative	Comment on Study
Thomson, P. A.,2005(b)	SNP: rs13440581, rs2072621 Haplotype: (GPR50_502-505) - rs13440581(), rs2072621 - (GPR50_502-505)(), rs2072621 - (GPR50_502-505) - rs13440581(), rs2072621 - rs13440581() Other variant: GPR50_delta502-505	We have shown that GPR50 is a strong candidate gene for female-associated affective disorder.	Positive	Comment on Study
Macintyre, D. J.,2010	SNP: rs1202874, rs13440581, rs2072621, rs529386, rs561077 Other variant: GPR50_delta502-505	To our knowledge this is the first association of rs1202874 with BD and is the second positive association at the GPR50 locus.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 7)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005887	integral component of plasma membrane	cellular component	TAS[8647286]	158

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005515	protein binding	molecular function	IPI[16778767]	563
GO:0004930	G-protein coupled receptor activity	molecular function	TAS[8647286]	26
GO:0042802	identical protein binding	molecular function	IPI[16778767]	44
GO:0008502	melatonin receptor activity	molecular function	IEA	2
GO:0007267	cell-cell signaling	biological process	TAS[8647286]	29
GO:0007186	G-protein coupled receptor signaling pathway	biological process	IEA	64

Gene related KEGG pathways (count: 1)

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

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 1)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
GPR50	MTNR1B	NO	in vitro;in vivo	16778767

Related other genetic factors

Gene related SNPs (count: 5)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs529386	chrX:151170625 - 151170625(1)	downstream_gene_variant	1(0/1/0)
rs561077	chrX:151181177 - 151181177(1)	missense_variant; upstream_gene_variant	1(0/1/0)
rs1202874	chrX:151179756 - 151179756(1)	intron_variant; upstream_gene_variant	1(1/0/0)
rs13440581	chrX:151181399 - 151181399(1)	missense_variant; upstream_gene_variant	2(1/1/0)
rs2072621	chrX:151177387 - 151177387(1)	intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant	2(0/2/0)

Gene related CNVs (count: 0)

Gene related other variants (count: 1)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
GPR50_delta502-505	insertion/deletion		3 (1/2/0)

Gene related regions (count: 0)

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

Gene relationship with SZ

Reference	Description	Result Category
15452587	There is weaker evidence of an association with schizophrenia also in female subjects.	Trend

Gene relationship with MDD

Reference	Description	Category in MDD
15452587	We have shown that GPR50 is a strong candidate gene for female-associated affective disorder.	Positive
20371266	No polymorphism was significantly associated with MDD.	Negative

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Region: chrX:151176653..151181465 View in gBrowse