mutLBSgeneDB |
Gene summary for PLA2G7 |
Gene summary |
Basic gene Info. | Gene symbol | PLA2G7 |
Gene name | phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) | |
Synonyms | LDL-PLA2|LP-PLA2|PAFAD|PAFAH | |
Cytomap | UCSC genome browser: 6p21.2-p12 | |
Type of gene | protein-coding | |
RefGenes | NM_001168357.1, NM_005084.3, | |
Description | 1-alkyl-2-acetylglycerophosphocholine esterase2-acetyl-1-alkylglycerophosphocholine esteraseLDL-PLA(2)LDL-associated phospholipase A2PAF 2-acylhydrolasePAF acetylhydrolasegVIIA-PLA2group-VIIA phospholipase A2lipoprotein-associated phospholipase A2 | |
Modification date | 20141207 | |
dbXrefs | MIM : 601690 | |
HGNC : HGNC | ||
Ensembl : ENSG00000146070 | ||
HPRD : 03407 | ||
Vega : OTTHUMG00000014789 | ||
Protein | UniProt: Q13093 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_PLA2G7 | |
BioGPS: 7941 | ||
Pathway | NCI Pathway Interaction Database: PLA2G7 | |
KEGG: PLA2G7 | ||
REACTOME: PLA2G7 | ||
Pathway Commons: PLA2G7 | ||
Context | iHOP: PLA2G7 | |
ligand binding site mutation search in PubMed: PLA2G7 | ||
UCL Cancer Institute: PLA2G7 | ||
Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. |
Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
GO ID | GO Term | PubMed ID | GO:0034374 | low-density lipoprotein particle remodeling | 8624782 | GO:0034440 | lipid oxidation | 8624782 | GO:0034441 | plasma lipoprotein particle oxidation | 8624782 | GO:0090026 | positive regulation of monocyte chemotaxis | 8624782 |
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Ligand binding site mutations for PLA2G7 |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | H351 | S349L | HNSC | 1 | F322 | Q323P | KIRC | 1 | F274 | G275S | SKCM | 1 | A155 | F156L | SKCM | 1 | G152 | H151Y | SKCM | 1 | H272 | H272N | STAD | 1 |
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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Protein structure related information for PLA2G7 |
Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
: nsSNV at non-LBS: nsSNV at LBS |
nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
LBS | AAchange of nsSNV | Relative stability change | G152 | H151Y | 0.44158155 | H272 | H272N | -1.3572423 | F274 | G275S | -0.94969123 | F322 | Q323P | -0.76668301 | A155 | F156L | -0.28863124 | H351 | S349L | -0.21958876 |
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
Structure image for PLA2G7 from PDB |
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Differential gene expression and gene-gene network for PLA2G7 |
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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Phenotype information for PLA2G7 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0010068 | Coronary Disease | 26 | AlteredExpression, Biomarker, GeneticVariation |
umls:C0004096 | Asthma | 5 | Biomarker, GeneticVariation |
umls:C0038454 | Stroke | 5 | Biomarker, GeneticVariation |
umls:C0017661 | Glomerulonephritis, IGA | 3 | Biomarker |
umls:C0020523 | Hypersensitivity, Immediate | 2 | Biomarker, GeneticVariation |
umls:C3280315 | Platelet-Activating Factor Acetylhydrolase Deficiency | 2 | GeneticVariation |
umls:C0025521 | Metabolism, Inborn Errors | 1 | Biomarker |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for PLA2G7 |
Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
Gene-centered drug-gene interaction network |
Drug information targeting mutLBSgene (Approved drugs only) |
Drug status | DrugBank ID | Name | Type | Drug structure |
Investigational | DB05256 | 659032 | Small molecule | |
Experimental | DB07821 | (1R)-1,2,2-TRIMETHYLPROPYL (R)-METHYLPHOSPHINATE | Small molecule |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of PLA2G7 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | GD7 | (1R)-1,2,2-TRIMETHYLPROPYL (R)-METHYLPHOSPHINATE | 3f97 | A | G152 A155 H272 F274 H351 | NTJ | R-ETHYL N,N-DIMETHYLPHOSPHONAMIDATE | 3f98 | C | G152 F274 F322 H351 | DEP | DIETHYL BENZYLPHOSPHONATE | 3d5e | B | G152 F274 H351 | DFP | DIISOPROPYL PHOSPHITE | 3f9c | B | G152 F274 H351 | DEP | DIETHYL BENZYLPHOSPHONATE | 3d5e | A | G152 H272 F274 F322 H351 | NTJ | R-ETHYL N,N-DIMETHYLPHOSPHONAMIDATE | 3f98 | A | G152 H272 F274 F322 H351 | NTJ | R-ETHYL N,N-DIMETHYLPHOSPHONAMIDATE | 3f98 | B | G152 H272 F274 F322 H351 | GD7 | (1R)-1,2,2-TRIMETHYLPROPYL (R)-METHYLPHOSPHINATE | 3f97 | B | G152 H272 F274 H351 | DFP | DIISOPROPYL PHOSPHITE | 3f9c | A | G152 H272 F274 H351 |
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Conservation information for LBS of PLA2G7 |
Multiple alignments for Q13093 in multiple species |
LBS | AA sequence | # species | Species | A155 | SHGLGAFRTIY | 3 | Gallus gallus, Mus musculus, Canis lupus familiaris | A155 | SHGLGAFRTLY | 1 | Homo sapiens | F274 | VIGHSFGGATV | 2 | Homo sapiens, Canis lupus familiaris | F274 | VMGHSFGGATV | 1 | Gallus gallus | F274 | LMGHSFGGATV | 1 | Mus musculus | F322 | INSEYFQYPAN | 1 | Homo sapiens | F322 | INSEKFQWAAN | 1 | Gallus gallus | F322 | INSAKFQTPKD | 1 | Mus musculus | F322 | INSERFQFPEN | 1 | Canis lupus familiaris | G152 | IVFSHGLGAFR | 2 | Mus musculus, Canis lupus familiaris | G152 | VVFSHGLGAFR | 1 | Homo sapiens | G152 | LVFSHGLGAFR | 1 | Gallus gallus | H272 | IAVIGHSFGGA | 2 | Homo sapiens, Canis lupus familiaris | H272 | IAVMGHSFGGA | 1 | Gallus gallus | H272 | IALMGHSFGGA | 1 | Mus musculus | H351 | IRGSVHQNFAD | 2 | Homo sapiens, Canis lupus familiaris | H351 | IKGSVHQSFPD | 1 | Gallus gallus | H351 | IKGSVHQNFDD | 1 | Mus musculus | L153 | VFSHGLGAFRT | 4 | Homo sapiens, Gallus gallus, Mus musculus, Canis lupus familiaris | Q352 | RGSVHQNFADF | 2 | Homo sapiens, Canis lupus familiaris | Q352 | KGSVHQSFPDF | 1 | Gallus gallus | Q352 | KGSVHQNFDDF | 1 | Mus musculus | S273 | AVIGHSFGGAT | 2 | Homo sapiens, Canis lupus familiaris | S273 | AVMGHSFGGAT | 1 | Gallus gallus | S273 | ALMGHSFGGAT | 1 | Mus musculus | W298 | IALDAWMFPLG | 1 | Homo sapiens | W298 | IALDAWMLPVG | 1 | Gallus gallus | W298 | VALDPWMYPVN | 1 | Mus musculus | W298 | IALDAWMLPLD | 1 | Canis lupus familiaris | Y160 | AFRTIYSAIGI | 2 | Mus musculus, Canis lupus familiaris | Y160 | AFRTLYSAIGI | 1 | Homo sapiens | Y160 | AFRTIYSAICI | 1 | Gallus gallus |
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