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	PIK3C2A
Symbol Alias	PI3K-C2alpha
Approved Name	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha
Previous Name	phosphoinositide-3-kinase, class 2, alpha polypeptide
Location	11p15.5-p14
Position	chr11:17077730-17207983, -1
External Links	HGNC: 8971 Entrez Gene: 5286 Ensembl: ENSG00000011405 UCSC: uc001mmq.5
No. of Studies	1 (Positive: 0; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Ruderfer, D. M., 2013	SNP: rs4356203	The association near PIK3C2A (chr11: 17023194-17381287) is novel. The SNP within or near this gene did not achieve genome-wide significance.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 29)

GO terms by PBA (count: 3)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005886	plasma membrane	cellular component	IDA[21081650]	360
GO:0005634	nucleus	cellular component	IEA	283
GO:0016020	membrane	cellular component	IDA[19946888]	137

GO terms by database search (count: 26)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0035004	phosphatidylinositol 3-kinase activity	molecular function	TAS[17371240]	2
GO:0006661	phosphatidylinositol biosynthetic process	biological process	TAS	13
GO:0016303	1-phosphatidylinositol-3-kinase activity	molecular function	IBA	3
GO:0036092	phosphatidylinositol-3-phosphate biosynthetic process	biological process	IEA	5
GO:0071583	negative regulation of zinc ion transmembrane transport	biological process	IEA	1
GO:0007173	epidermal growth factor receptor signaling pathway	biological process	TAS[17371240]	22
GO:0006897	endocytosis	biological process	IMP[21081650]	15
GO:0031982	vesicle	cellular component	IDA[21081650]	20
GO:0048268	clathrin coat assembly	biological process	TAS[17371240]	1
GO:0070062	extracellular vesicular exosome	cellular component	IDA[19056867]	176
GO:0048015	phosphatidylinositol-mediated signaling	biological process	IEA	17
GO:0005737	cytoplasm	cellular component	IDA[21081650]	322
GO:0014829	vascular smooth muscle contraction	biological process	TAS[17371240]	1
GO:0030136	clathrin-coated vesicle	cellular component	IEA	9
GO:0044281	small molecule metabolic process	biological process	TAS	117
GO:0035091	phosphatidylinositol binding	molecular function	IEA	5
GO:0005794	Golgi apparatus	cellular component	IEA	60
GO:0006644	phospholipid metabolic process	biological process	TAS	18
GO:0005942	phosphatidylinositol 3-kinase complex	cellular component	IBA	4
GO:0005524	ATP binding	molecular function	IEA	118
GO:0048008	platelet-derived growth factor receptor signaling pathway	biological process	TAS[17371240]	2
GO:0046854	phosphatidylinositol phosphorylation	biological process	IEA	10
GO:0008286	insulin receptor signaling pathway	biological process	TAS[17371240]	15
GO:0005829	cytosol	cellular component	TAS	223
GO:0006887	exocytosis	biological process	TAS[17371240]	6
GO:0035005	1-phosphatidylinositol-4-phosphate 3-kinase activity	molecular function	TAS	2

Gene related KEGG pathways (count: 1)

KEGG pathways by PBA (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04070	Phosphatidylinositol signaling system	16

KEGG pathways by database search (count: 0)

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
PIK3C2A	ERBB2	YES	in vivo	10805725

Related other genetic factors

Gene related SNPs (count: 1)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs4356203	chr11:17138601 - 17138601(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant	2(1/1/0)

LD-proxies (count: 0)

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 11	chr11:0-135086622	2 (0/2/0)
11p15	chr11:0-22000000	5 (0/4/1)

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

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 1)

Reference	Description	Result Category
24280982	The SNP within or near this gene did not achieve genome-wide significance.	Negative

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

Reference	ID in SZGene	Result Category
17893707	614	Negative

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
24391664	GPLS genes significantly dysregulated in anterior cingulate cortex by microarray	Pos	PIK3C2A

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Region: chr11:17077730..17207983 View in gBrowse