Gene Report

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)

GO terms by PBA (count: 2)

GO terms by database search (count: 13)

Gene related KEGG pathways (count: 2)

KEGG pathways by PBA (count: 2)

KEGG pathways by database search (count: 0)

Gene related BioCarta pathways (count: 0)

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

Related other genetic factors
Gene related SNPs (count: 0)

Gene related CNVs (count: 2)

Gene related other variants (count: 3)

Gene related regions (count: 3)

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

Overlap with SZ from cross-disorder studies (count: 2)

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

Gene relationship with MDD

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Region: chr22:20707691..20859417 View in gBrowse
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