Gene Gene information from NCBI Gene database.
Entrez ID 7941
Gene name Phospholipase A2 group VII
Gene symbol PLA2G7
Synonyms (NCBI Gene)
LDL-PLA2LP-PLA2PAFADPAFAH
Chromosome 6
Chromosome location 6p12.3
Summary 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.
4
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.
622
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601690 9040 ENSG00000146070
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
17
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Platelet-activating factor acetylhydrolase deficiency Likely pathogenic rs1420368113, rs142974898 RCV001330011
RCV003989405
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTHMA CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATHEROSCLEROSIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBROVASCULAR ACCIDENT Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Cerebrovascular Accidents Stroke CTD_human_DG 21356620
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 15166791, 16873290, 23140470, 28753643, 29170433, 29844644, 29995820, 30963302
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome GWASCAT_DG 28753643
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 28332853
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 23361301
★☆☆☆☆
Found in Text Mining only
Allergic rhinitis (disorder) Allergic rhinitis HPO_DG
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 24929287 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Late Onset Alzheimer disease BEFREE 20464283
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 22632920
★☆☆☆☆
Found in Text Mining only
Angina Stable Angina pectoris Pubtator 12730297, 28222638 Associate
★☆☆☆☆
Found in Text Mining only