PhenoModifier-Gene Detail

Gene "PPP2R5C"

Found 1 record

Gene information

Gene symbol:

PPP2R5C

See related:

Ensembl: ENSG00000078304, Gene ID: 5527

Additive variants :

Detected

Genetic interaction partners

Confidence	Stringent (ε>0.16 or ε<-0.12)	Intermediate (-0.16≤ε≤-0.08 or 0.08≤ε≤0.16)	Lenient (\|ε\|<0.08)
Positive interactions	GRK7 BIN3 ABCB9 USP10 ZDHHC4 SLC27A3 WDR6 CLIP1 PFKFB2 NTHL1 MECOM EMC3 PPP6R3 MEF2A MRS2 GATA2 RAB6B RPL13 GPD2 ACTR6 RPS9 HGH1 RMND5B SMARCAD1 RPL37A PGM2L1 RPL27 ACSS3 MAPK11 RPL31 USP14 PUS7L KIAA1109 RPL8 MPC2 RNF10 RPL29 NAPEPLD GPCPD1 BECN2 UPF2 RPS16 RNF19A DOHH PRKCSH ERCC1 NUDT13 HNRNPM PDXP PEX1 ALG5 RPEL1 RPS4X KDM5C CTU1 CPA1 PHGDH CCNA2 TREH VDAC2 DRG1 RHOT2 ATXN2 WWOX RPL9 HFM1 RPL22L1 NAE1 CHMP3 EMC1 CANX POMT2 PRPSAP2 ARHGDIB ZMPSTE24 BRDT ABCC5 ANKRD55 RPL22L1 MEMO1 RNASEH2A IMPDH1 ARHGAP35 SC5D MUS81 TMEM87A RPL37A DNM1L CFDP1 show allhide
Negative interactions	KIFC2 CHTF18 DDX11 WDHD1 PFDN6 PFDN4 LIPT1 WIPI2 PPM1L CCNA2 PPP2CB TUBA3D CDC25B GABARAP TXNDC9 DGAT1 COX10 RPS6 UBC PQLC2L PPIP5K1 HGS TRMT11 PSMD4 TBK1 DBT XPO5 LIPT2 UXS1 ASNS PPP6C PTPA METTL18 RPL9 SEC24D GATA2 PPIL6 TBC1D20 PPP6R3 TKFC SLC25A26 SRR GSK3B RACK1 ZNF622 PGLS REEP4 MON1B MORF4L1 FASN LIAS ANKZF1 ASF1A PELO RPS29 BTF3L4 DPP6 VAT1L ATG3 RRP8 TTF2 ADH7 FOXJ3 NMNAT1 PSMA4 PPP6R3 WDR48 ACAA1 HCFC2 RPL17-C18orf32 KIF2C MAF1 HHATL ATG7 PITRM1 BRSK1 DOT1L ALPL XPNPEP2 D2HGDH PGLS ZFAND1 TMEM165 RPL34 DHODH ALDH16A1 SLC25A17 SH3YL1 HIPK2 HAAO XYLB ASNS SLC13A4 IDH2 RHEB PGLS show allhide

Modifier statisitcs

Record:

Disorder:

Vriant:

Reference:

Effect type:

Expressivity(1)

Modifier effect:

Altered onset time(1)

Detail：

Variant 1:

PPP2R5C:c.188-7107A>G

Gene:

PPP2R5C

Genomic location:

chr14:102315916

dbSNP ID:

rs1746595

Target disease:

Alzheimer's Disease(DOID_10652)

Effect type:

Expressivity

Modifier effect:

Altered onset time

Evidence:

P=0.009017

Effect:

Genetic variation in these new candidate genes affects the risk of late-onset Alzheimer’s disease.

Reference:

PMID22984654

Title:

Beta-amyloid toxicity modifier genes and the risk of Alzheimer's disease.

Species studied:

Human

Abstract:

Late-onset Alzheimer's disease (LOAD) is a complex and multifactorial disease. So far ten loci have been identified for LOAD, including APOE, PICALM, CLU, BIN1, CD2AP, CR1, CD33, EPHA1, ABCA7, and MS4A4A/MS4A6E, but they explain about 50% of the genetic risk and thus additional risk genes need to be identified. Amyloid beta (Aβ) plaques develop in the brains of LOAD patients and are considered to be a pathological hallmark of this disease. Recently 12 new Aβ toxicity modifier genes (ADSSL1, PICALM, SH3KBP1, XRN1, SNX8, PPP2R5C, FBXL2, MAP2K4, SYNJ1, RABGEF1, POMT2, and XPO1) have been identified that potentially play a role in LOAD risk. In this study, we have examined the association of 222 SNPs in these 12 candidate genes with LOAD risk in 1291 LOAD cases and 958 cognitively normal controls. Single site and haplotype analyses were performed using PLINK. Following adjustment for APOE genotype, age, sex, and principal components, we found single nucleotide polymorphisms (SNPs) in PPP2R5C, PICALM, SH3KBP1, XRN1, and SNX8 that showed significant association with risk of LOAD. The top SNP was located in intron 3 of PPP2R5C (P=0.009017), followed by an intron 19 SNP in PICALM (P=0.0102). Haplotype analysis revealed significant associations in ADSSL1, PICALM, PPP2R5C, SNX8, and SH3KBP1 genes. Our data indicate that genetic variation in these new candidate genes affects the risk of LOAD. Further investigation of these genes, including additional replication in other case-control samples and functional studies to elucidate the pathways by which they affect Aβ, are necessary to determine the degree of involvement these genes have for LOAD risk.