Gene Report

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Basic Info

Approved Symbol	PI4KA
Previous Symbol	PIK4CA
Symbol Alias	PI4K-ALPHA, pi4K230
Approved Name	phosphatidylinositol 4-kinase, catalytic, alpha
Location	22q11.21
Position	chr22:20707691-20859417, -1
External Links	HGNC: 8983 Entrez Gene: 5297 Ensembl: ENSG00000241973 UCSC: uc002zsz.5
No. of Studies	3 (Positive: 1; Negative: 2; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 3)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Hu, X.,2010	Haplotype: rs10123629 - rs165730(), rs10123629 - rs6004133(), rs10124883 - rs165730(), rs10124883 - rs6004133()	Our results indicate that interactions between neurological pathway-related genes ASTN2 and SNAP29 or ASTN2 and PIK4CA, or other genes in linkage disequilibrium with any genes in these pairs, were risk factors of BPD, in both Caucasian and Chinese Han populations.	Positive	Comment on Study
Saito, T.,2003	Other variant: PIK4CA_-31(A>G), PIK4CA_E2079Q, PIK4CA_R2259C	No significant association of PI4KA gene was observed in BD.	Negative	Comment on Study
Fallin, M. D.,2005		6 SNP typed, Median D'=1, Median r<sup>2</sup> =0.67, 1 LD blocks, 0.67 block coverage, all SNP or haplotype P-value > 0.05 in BP and SZ/SZA... This gene is not suggestive to BP.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 15)

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

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0070062	extracellular vesicular exosome	cellular component	IDA[20458337]	176
GO:0006661	phosphatidylinositol biosynthetic process	biological process	TAS	13
GO:0044281	small molecule metabolic process	biological process	TAS	117
GO:0030660	Golgi-associated vesicle membrane	cellular component	ISS	3
GO:0046854	phosphatidylinositol phosphorylation	biological process	IEA	10
GO:0048015	phosphatidylinositol-mediated signaling	biological process	IEA	17
GO:0005829	cytosol	cellular component	TAS	223
GO:0004430	1-phosphatidylinositol 4-kinase activity	molecular function	IBA	2
GO:0007165	signal transduction	biological process	NAS[7961848]	136
GO:0005524	ATP binding	molecular function	IEA	118
GO:0005515	protein binding	molecular function	IPI[14676841]	563
GO:0006644	phospholipid metabolic process	biological process	TAS	18
GO:0005925	focal adhesion	cellular component	IDA[21423176]	32

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in BDgene	Brief Description
hsa00562	Inositol phosphate metabolism	11
hsa04070	Phosphatidylinositol signaling system	16

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 5)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
PI4KA	CD4	NO	in vitro	8246987
PI4KA	CD7	NO	in vivo	12594831
PI4KA	STRN4	NO	yeast 2-hybrid	16169070
PI4KA	PITPNA	NO	in vivo	7761838
PI4KA	MTNR1B	NO	in vivo	17215244

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 2)

ID	Location	Size	Band	Type	Inheritance
CNV_Zhang[2009]_307	chr22:19046936-19795835 (Affymetrix SNP 6.0 array reference genome)	748899		Singleton deletions
CNV_Lyudmila Georgieva[2014]_15	chr22:21069073-21608479 (UCSC build 37, hg19)	539406	22q11.21	deletion

Gene related other variants (count: 3)

Variant Name	Variant Type	No. of Studies (Positive/Negative/Trend)
PIK4CA_E2079Q	point mutation	1 (0/1/0)
PIK4CA_-31(A>G)	point mutation	1 (0/1/0)
PIK4CA_R2259C	point mutation	1 (0/1/0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
22q11	chr22:15000000-25500000	1 (0/1/0)
22q11.2	chr22:17400000-25500000	2 (0/2/0)
Chr 22	chr22:0-50818468	2 (0/1/1)

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

Gene relationship with SZ

Reference	Description	Result Category
12497619	No significant association of PI4KA gene was observed in SZ.	Negative
16380905	This gene is not suggestive to SZ/SZA.	Negative

Gene relationship with MDD

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Region: chr22:20707691..20859417 View in gBrowse