Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7941
Gene name Gene Name - the full gene name approved by the HGNC.
Phospholipase A2 group VII
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PLA2G7
Synonyms (NCBI Gene) Gene synonyms aliases
LDL-PLA2, LP-PLA2, PAFAD, PAFAH
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p12.3
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a secreted enzyme that catalyzes the degradation of platelet-activating factor to biologically inactive products. Defects in this gene are a cause of platelet-activating factor acetylhydrolase deficiency. Two transcript
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1051931 A>G,T Risk-factor, not-provided Coding sequence variant, non coding transcript variant, missense variant
rs1805018 A>G Risk-factor Coding sequence variant, non coding transcript variant, missense variant
rs76863441 C>A Risk-factor, pathogenic Intron variant, coding sequence variant, missense variant, non coding transcript variant
rs201899866 C>T Pathogenic, risk-factor Splice donor variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017286 hsa-miR-335-5p Microarray 18185580
MIRT022422 hsa-miR-124-3p Microarray 18668037
MIRT611762 hsa-miR-590-3p HITS-CLIP 19536157
MIRT611761 hsa-miR-8485 HITS-CLIP 19536157
MIRT611760 hsa-miR-4789-3p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003847 Function 1-alkyl-2-acetylglycerophosphocholine esterase activity IBA
GO:0003847 Function 1-alkyl-2-acetylglycerophosphocholine esterase activity IDA 8624782, 10066756, 10504265, 11590221, 16371369
GO:0003847 Function 1-alkyl-2-acetylglycerophosphocholine esterase activity IEA
GO:0005515 Function Protein binding IPI 28514442, 33961781
GO:0005543 Function Phospholipid binding IDA 8624782
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601690 9040 ENSG00000146070
Protein
UniProt ID Q13093
Protein name Platelet-activating factor acetylhydrolase (PAF acetylhydrolase) (EC 3.1.1.47) (1-alkyl-2-acetylglycerophosphocholine esterase) (2-acetyl-1-alkylglycerophosphocholine esterase) (Group-VIIA phospholipase A2) (gVIIA-PLA2) (LDL-associated phospholipase A2) (
Protein function Lipoprotein-associated calcium-independent phospholipase A2 involved in phospholipid catabolism during inflammatory and oxidative stress response (PubMed:10066756, PubMed:16371369, PubMed:17090529, PubMed:2040620, PubMed:7700381, PubMed:8624782)
PDB 3D59 , 3D5E , 3F96 , 3F97 , 3F98 , 3F9C , 5I8P , 5I9I , 5JAD , 5JAH , 5JAL , 5JAN , 5JAO , 5JAP , 5JAR , 5JAS , 5JAT , 5JAU , 5LP1 , 5LYY , 5LZ2 , 5LZ4 , 5LZ5 , 5LZ7 , 5LZ8 , 5LZ9 , 5YE7 , 5YE8 , 5YE9 , 5YEA , 6M06 , 6M07 , 6M08
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03403 PAF-AH_p_II 48 416 Platelet-activating factor acetylhydrolase, isoform II Domain
Tissue specificity TISSUE SPECIFICITY: Plasma (PubMed:11590221, PubMed:12821559). Secreted by macrophages (at protein level) (PubMed:11590221). {ECO:0000269|PubMed:11590221, ECO:0000269|PubMed:12821559}.
Sequence
Sequence length 441
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Ether lipid metabolism
Metabolic pathways
  Synthesis, secretion, and deacylation of Ghrelin
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Platelet-activating factor acetylhydrolase deficiency platelet-activating factor acetylhydrolase deficiency N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acne Vulgaris Associate 29636060
Acute Coronary Syndrome Associate 12730297, 36637451
Acute Disease Stimulate 22447189
Alzheimer Disease Associate 24929287
Angina Stable Associate 12730297, 28222638
Angina Unstable Stimulate 36637451
Aortic Aneurysm Abdominal Associate 11807372
Aortic Valve Disease Associate 24161325
Aortic Valve Stenosis Associate 24161316
Arteritis Associate 32310273