Gene Report

Basic Info
Approved Symbol PLA2G6
Symbol Alias iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2
Approved Name phospholipase A2, group VI (cytosolic, calcium-independent)
Name Alias neurodegeneration with brain iron accumulation 2
Location 22q13.1
Position chr22:38111495-38205690, -1
External Links HGNC: 9039
Entrez Gene: 8398
Ensembl: ENSG00000184381
UCSC: uc003aux.1
No. of Studies 2 (Positive: 1; Negative: 1; trend: 0)
Overlap with SZ? YES
Overlap with MDD? NO
Gene related studies (count: 2)
Reference Tested Markers Statistical Values/Author Comments Result Category Comment on Study
Xu, C.,2012 SNP: rs4375, rs3788533
Haplotype: rs4375 - rs3788533(T-C), rs4375 - rs3788533(C-G)
Association with BD as a whole was observed in the family study (significant over transmissions of rs3788533-allele C, P=0.015, PBonferroni=0.03, TDTPHASE). A significant association of iPLA2beta variants with BD-I and a trend gene-gene interaction between iPLA2beta and TRPM2 provides additional support for the notion that genetic variation in these two functionally implicated candidates contributes toward the risk and pathophysiology of this illness. Positive Comment on Study
Meira-Lima, I.,2003(a) Other variant: iPLA2_C/T Our results failed to demonstrate that the studied PLA2 polymorphisms were associated with an increased risk for BPAD in our sample. Negative Comment on Study
Gene functional annotation
Gene related GO terms (count: 35)

GO terms by PBA (count: 3)

GO terms by database search (count: 32)

Gene related KEGG pathways (count: 10)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 0)

Related other genetic factors
Gene related SNPs (count: 25)

Literature-origin SNPs (count: 2)

LD-proxies (count: 23)

Gene related CNVs (count: 0)

Gene related other variants (count: 1)

Gene related regions (count: 5)

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

Overlap with SZ from cross-disorder studies (count: 0)

Overlap with SZ from candidate gene intersection analysis (count: 3)

Gene relationship with MDD

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Region: chr22:38111495..38205690 View in gBrowse
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