Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
7941 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Phospholipase A2 group VII |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
PLA2G7 |
SynonymsGene synonyms aliases
|
LDL-PLA2, LP-PLA2, PAFAD, PAFAH |
ChromosomeChromosome number
|
6 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
6p12.3 |
SummarySummary 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 |
SNPsSNP 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 |
|
miRNAmiRNA information provided by mirtarbase database.
|
|
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 |
21873635 |
GO:0003847 |
Function |
1-alkyl-2-acetylglycerophosphocholine esterase activity |
IDA |
8624782, 10066756, 10504265, 11590221, 16371369 |
GO:0005543 |
Function |
Phospholipid binding |
IDA |
8624782 |
GO:0005576 |
Component |
Extracellular region |
TAS |
|
GO:0005737 |
Component |
Cytoplasm |
IEA |
|
GO:0016788 |
Function |
Hydrolase activity, acting on ester bonds |
TAS |
|
GO:0034362 |
Component |
Low-density lipoprotein particle |
IDA |
8624782, 10066756, 12821559 |
GO:0034364 |
Component |
High-density lipoprotein particle |
IDA |
11590221 |
GO:0034374 |
Process |
Low-density lipoprotein particle remodeling |
IDA |
8624782 |
GO:0034440 |
Process |
Lipid oxidation |
IDA |
8624782 |
GO:0034441 |
Process |
Plasma lipoprotein particle oxidation |
IDA |
8624782 |
GO:0034638 |
Process |
Phosphatidylcholine catabolic process |
IDA |
2040620 |
GO:0046469 |
Process |
Platelet activating factor metabolic process |
IDA |
8624782, 10066756, 10504265, 11590221 |
GO:0047499 |
Function |
Calcium-independent phospholipase A2 activity |
IDA |
2040620, 8624782 |
GO:0050729 |
Process |
Positive regulation of inflammatory response |
TAS |
8624782 |
GO:0062234 |
Process |
Platelet activating factor catabolic process |
IDA |
16371369 |
GO:0090026 |
Process |
Positive regulation of monocyte chemotaxis |
IDA |
8624782 |
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
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 |
|
Sequence |
|
Sequence length |
441 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
|
|
Associated diseases
|
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Allergic rhinitis |
Allergic rhinitis (disorder) |
|
|
Coronary heart disease |
Coronary heart disease |
rs9289231, rs281864746 |
21356620, 28753643 |
Coronary syndrome |
Acute Coronary Syndrome |
rs4986893 |
28753643 |
Eczema |
Eczema |
|
|
Ige responsiveness, atopic |
IgE RESPONSIVENESS, ATOPIC |
|
|
Inborn errors of metabolism |
Inborn Errors of Metabolism |
|
8675689 |
Platelet-activating factor acetylhydrolase deficiency |
Platelet-Activating Factor Acetylhydrolase Deficiency |
rs76863441, rs757871876, rs201899866, rs1554182722 |
8675689, 9245731, 9759612, 9472966, 9412624 |
Stroke |
Cerebrovascular accident, Acute Cerebrovascular Accidents |
|
21356620 |
|