Gene Report

Basic Info
Approved Symbol PIP4K2A
Previous Symbol PIP5K2A
Symbol Alias PIP5KIIA, PIP5KIIalpha
Approved Name phosphatidylinositol-5-phosphate 4-kinase, type II, alpha
Previous Name phosphatidylinositol-4-phosphate 5-kinase, type II, alpha
Location 10p12.2
Position chr10:22534849-22714555, -1
External Links HGNC: 8997
Entrez Gene: 5305
Ensembl: ENSG00000150867
UCSC: uc001irl.4
No. of Studies 4 (Positive: 1; Negative: 3; trend: 0)
Overlap with SZ? YES
Overlap with MDD? NO
Gene related studies (count: 4)
Reference Tested Markers Statistical Values/Author Comments Result Category Comment on Study
Jamra, R. A., 2006 (a) SNP: rs1053454, rs1417374, rs1539628, rs943194, rs997650 Our results do not suggest that a common genetic variant at the PIP5K2A locus contributes to the development of schizophrenia and/or BPAD in patients of German descent. Negative Comment on Study
Stopkova, P.,2003 Other variant: PIP5K2A_Exon7_N251S, PIP5K2A_Exon10_1257T->G, PIP5K2A_Exon10_1412G->C, PIP5K2A_Exon8_IVS8+20C->G, PIP5K2A_Exon10_Codon 391(GAA->GAG), PIP5K2A_Exon5_Codon 199(GTA->GTG), PIP5K2A_Exon8_Codon 309(CCG->CCA), PIP5K2A_Exon9_Intron 9_CT repeat Significant associations of PIP5K2A Exon9 Intron 9 CT repeat were found in BPD patients. Positive Comment on Study
Stopkova, P.,2005 Other variant: PIP5K2A_-1007C>T No significant associations were detected in BD patients. Negative Comment on Study
Yosifova, A.,2009 SNP: rs1053454, rs2230469 No SNP of this gene had significant association with BD in our population. Negative Comment on Study
Gene functional annotation
Gene related GO terms (count: 12)

GO terms by PBA (count: 2)

GO terms by database search (count: 10)

Gene related KEGG pathways (count: 3)

KEGG pathways by PBA (count: 2)

KEGG pathways by database search (count: 1)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 3)

Related other genetic factors
Gene related SNPs (count: 71)

Literature-origin SNPs (count: 6)

LD-proxies (count: 65)

Gene related CNVs (count: 0)

Gene related other variants (count: 9)

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: 3)

Overlap with SZ from candidate gene intersection analysis (count: 9)

Gene relationship with MDD

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Region: chr10:22534849..22714555 View in gBrowse
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