Gene Report

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Basic Info

Approved Symbol	SP8
Approved Name	Sp8 transcription factor
Location	7p21.2
Position	chr7:20782283-20786886, -1
External Links	HGNC: 19196 Entrez Gene: 221833 Ensembl: ENSG00000164651 UCSC: uc032zgm.1
No. of Studies	3 (Positive: 2; Negative: 0; trend: 1)
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
Kondo, K.,2013	SNP: rs2709736, rs2709722	Significant association was observed.	Positive	Comment on Study
Lee, M. T.,2011	SNP: rs2709722, rs2709736	SNPs close to specificity protein 8 (SP8) are associated with Bipolar I Disorder.	Positive	Comment on Study
Huang, J.,2010	SNP: rs917815	Suggestive association was found in BD-II.	Trend	Comment on Study

Gene functional annotation

Gene related GO terms (count: 8)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005634	nucleus	cellular component	IEA	283
GO:0003677	DNA binding	molecular function	IEA	83

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0046872	metal ion binding	molecular function	IEA	115
GO:0030326	embryonic limb morphogenesis	biological process	IEA	3
GO:0006355	regulation of transcription, DNA-templated	biological process	IEA	62
GO:0009954	proximal/distal pattern formation	biological process	IEA	3
GO:0006351	transcription, DNA-templated	biological process	IEA	103
GO:0009953	dorsal/ventral pattern formation	biological process	IEA	3

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 0)

Related other genetic factors

Gene related SNPs (count: 3)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs2709722	chr7:20828189 - 20828189(1)	downstream_gene_variant	2(1/0/1)
rs2709736	chr7:20822683 - 20822683(1)	upstream_gene_variant	2(1/0/1)
rs917815	chr7:21054970 - 21054970(1)		1(0/0/1)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
7p22.2-p21.1	chr7:2800000-20900000	1 (0/0/1)
Chr 7	chr7:0-159345973	3 (0/3/0)
7p21.1	chr7:16500000-20900000	1 (0/0/1)

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

Gene relationship with SZ

Reference	Description	Result Category
23967141	Significant association was observed.	Positive
20713499	No significant association of this gene was observed in SZ.	Negative

Gene relationship with MDD

Reference	Description	Category in MDD
20713499	No significant association was observed in MDD.	Negative

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Region: chr7:20782283..20786886 View in gBrowse