Gene Report

ADD to My Gene Set

Basic Info

Approved Symbol	PLEKHA5
Symbol Alias	PEPP2, KIAA1686, FLJ10667
Approved Name	pleckstrin homology domain containing, family A member 5
Location	12p12
Position	chr12:19129752-19376400, 1
External Links	HGNC: 30036 Entrez Gene: 54477 Ensembl: ENSG00000052126 UCSC: uc031qgo.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
Jamain, S., 2014	SNP: rs2961365, rs3752823, rs2900433, rs7305762, rs4764470, rs2970836, rs10743315, rs2565666	Significant association of SNP in this gene with BD was observed.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 10)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0016020	membrane	cellular component	IDA[19946888]	137

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0010314	phosphatidylinositol-5-phosphate binding	molecular function	IEA	1
GO:0005545	1-phosphatidylinositol binding	molecular function	NAS[11001876]	1
GO:0032266	phosphatidylinositol-3-phosphate binding	molecular function	IEA	2
GO:0005829	cytosol	cellular component	IEA	223
GO:0070273	phosphatidylinositol-4-phosphate binding	molecular function	IEA	1
GO:0008150	biological_process	biological process	ND	24
GO:0005515	protein binding	molecular function	IPI[16713569]	563
GO:0061458	reproductive system development	biological process	IEA	1
GO:0080025	phosphatidylinositol-3,5-bisphosphate binding	molecular function	IEA	1

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 2)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
PLEKHA5	YWHAG	NO	in vivo	15324660
PLEKHA5	LSM4	NO	yeast 2-hybrid	15231747

Related other genetic factors

Gene related SNPs (count: 8)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs2900433	chr12:19544697 - 19544697(1)	intron_variant	1(0/0/1)
rs7305762	chr12:19491592 - 19491592(1)	intron_variant	1(0/0/1)
rs2565666	chr12:19397902 - 19397902(1)		1(1/0/0)
rs2961365	chr12:19425173 - 19425173(1)	intron_variant	1(0/0/1)
rs10743315	chr12:19316144 - 19316144(1)	intron_variant; NMD_transcript_variant; upstream_gene_variant	1(0/0/1)
rs3752823	chr12:19375704 - 19375704(1)	3_prime_UTR_variant; downstream_gene_variant	1(0/0/1)
rs2970836	chr12:19106844 - 19106844(1)	downstream_gene_variant	1(0/0/1)
rs4764470	chr12:19189219 - 19189219(1)	intron_variant; non_coding_transcript_variant	1(0/0/1)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 12	chr12:0-133275309	3 (0/3/0)
12p12	chr12:14600000-26300000	1 (0/0/1)

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

Gene relationship with SZ

Gene relationship with MDD

View in gBrowse

Region: chr12:19129752..19376400 View in gBrowse