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	PIK3C3
Symbol Alias	Vps34
Approved Name	phosphatidylinositol 3-kinase, catalytic subunit type 3
Previous Name	phosphoinositide-3-kinase, class 3
Location	18q12.3
Position	chr18:41955206-42087830, 1
External Links	HGNC: 8974 Entrez Gene: 5289 Ensembl: ENSG00000078142 UCSC: uc002lap.3
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Stopkova, P., 2004 (a)	Other variant: PIK3C3_-432C->T, PIK3C3_promoter_-86insC	A promoter mutation in a PI regulator affecting the binding of a POU-type transcription factor may be involved in BD and SZ in a subset of patients.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 32)

GO terms by PBA (count: 5)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0016020	membrane	cellular component	IDA[19946888]	137
GO:0016236	macroautophagy	biological process	ISS	2
GO:0004672	protein kinase activity	molecular function	IEA	13
GO:0000045	autophagic vacuole assembly	biological process	IEA	1
GO:0045087	innate immune response	biological process	TAS	49

GO terms by database search (count: 27)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0035032	phosphatidylinositol 3-kinase complex, class III	cellular component	ISS	1
GO:0005930	axoneme	cellular component	ISS	4
GO:0006644	phospholipid metabolic process	biological process	TAS	18
GO:0006661	phosphatidylinositol biosynthetic process	biological process	TAS	13
GO:0050708	regulation of protein secretion	biological process	IEA	2
GO:0002224	toll-like receptor signaling pathway	biological process	TAS	10
GO:0045335	phagocytic vesicle	cellular component	IEA	4
GO:0005829	cytosol	cellular component	TAS	223
GO:0005770	late endosome	cellular component	IDA[14617358]	4
GO:0045022	early endosome to late endosome transport	biological process	IMP[14617358]	1
GO:0007032	endosome organization	biological process	IEA	2
GO:0048015	phosphatidylinositol-mediated signaling	biological process	IEA	17
GO:0000910	cytokinesis	biological process	IMP[20208530]	5
GO:0046854	phosphatidylinositol phosphorylation	biological process	IEA	10
GO:0042149	cellular response to glucose starvation	biological process	ISS	7
GO:0005942	phosphatidylinositol 3-kinase complex	cellular component	IBA	4
GO:0005515	protein binding	molecular function	IPI[14617358]	563
GO:0030496	midbody	cellular component	IDA[20208530]	8
GO:0016485	protein processing	biological process	IEA	5
GO:0034162	toll-like receptor 9 signaling pathway	biological process	TAS	7
GO:0016303	1-phosphatidylinositol-3-kinase activity	molecular function	IMP[20208530]	3
GO:0043201	response to leucine	biological process	IEA	1
GO:0036092	phosphatidylinositol-3-phosphate biosynthetic process	biological process	IEA; IMP[20208530]; TAS[7628435]	5
GO:0006468	protein phosphorylation	biological process	IEA	42
GO:0008286	insulin receptor signaling pathway	biological process	TAS	15
GO:0044281	small molecule metabolic process	biological process	TAS	117
GO:0005524	ATP binding	molecular function	IEA	118

Gene related KEGG pathways (count: 3)

KEGG pathways by PBA (count: 3)

ID	Name	No. of Genes in BDgene
hsa00562	Inositol phosphate metabolism	11
hsa04070	Phosphatidylinositol signaling system	16
hsa04140	Regulation of autophagy	3

KEGG pathways by database search (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 4)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
PIK3C3	PIK3R4	NO	in vitro;in vivo	8999962
PIK3C3	PITPNA	NO	in vitro;in vivo	8999962
PIK3C3	YWHAG	NO	in vivo	15324660
PIK3C3	CALM1	NO	in vitro	12925680

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 2)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
PIK3C3_-432C->T	point mutation		1 (1/0/0)
PIK3C3_promoter_-86insC	insertion/deletion	promoter	1 (0/0/1)

Gene related regions (count: 7)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
18p11-q12.3	chr18:0-45900000	1 (0/0/1)
18q	chr18:18500000-80373285	1 (0/1/0)
18q12.3-q21.1	chr18:39500000-63900000	1 (1/0/0)
18q12	chr18:27500000-45900000	2 (1/1/0)
18q12-21	chr18:27500000-63900000	1 (0/1/0)
18q12.3-q22.1	chr18:39500000-69100000	1 (0/1/0)
Chr 18	chr18:0-80373285	1 (1/0/0)

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
15121481	A promoter mutation in a PI regulator affecting the binding of a POU-type transcription factor may be involved in BD and SZ in a subset of patients.	Positive

Overlap with SZ from candidate gene intersection analysis (count: 5)

Reference	ID in SZGene	Result Category
15121481	160	Positive
15949671	160	Positive
17893707	160	Negative
18420347	160	Positive
15814194	160	Positive

Gene relationship with MDD

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Region: chr18:41955206..42087830 View in gBrowse