Gene Gene information from NCBI Gene database.
Entrez ID 5321
Gene name Phospholipase A2 group IVA
Gene symbol PLA2G4A
Synonyms (NCBI Gene)
GURDPPLA2G4cPLA2cPLA2-alpha
Chromosome 1
Chromosome location 1q31.1
Summary This gene encodes a member of the cytosolic phospholipase A2 group IV family. The enzyme catalyzes the hydrolysis of membrane phospholipids to release arachidonic acid which is subsequently metabolized into eicosanoids. Eicosanoids, including prostaglandi
SNPs SNP information provided by dbSNP.
5
SNP ID Visualize variation Clinical significance Consequence
rs121434634 T>C Pathogenic Missense variant, coding sequence variant
rs121434635 G>A Pathogenic Missense variant, coding sequence variant
rs1557895416 G>C Pathogenic Coding sequence variant, missense variant
rs1557901999 AGTA>- Pathogenic Intron variant, splice donor variant
rs1571392612 ->T Pathogenic Coding sequence variant, frameshift variant, intron variant
miRNA miRNA information provided by mirtarbase database.
113
miRTarBase ID miRNA Experiments Reference
MIRT022551 hsa-miR-124-3p Microarray 18668037
MIRT028507 hsa-miR-30a-5p Proteomics 18668040
MIRT047518 hsa-miR-10a-5p CLASH 23622248
MIRT041616 hsa-miR-146b-5p CLASH 23622248
MIRT052653 hsa-miR-449c-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
80
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IDA 11375391
GO:0000139 Component Golgi membrane IEA
GO:0001516 Process Prostaglandin biosynthetic process IDA 27642067
GO:0001516 Process Prostaglandin biosynthetic process IEA
GO:0001516 Process Prostaglandin biosynthetic process IMP 18451993
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600522 9035 ENSG00000116711
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P47712
Protein name Cytosolic phospholipase A2 (cPLA2) (Phospholipase A2 group IVA) [Includes: Phospholipase A2 (EC 3.1.1.4) (Phosphatidylcholine 2-acylhydrolase); Lysophospholipase (EC 3.1.1.5)]
Protein function Has primarily calcium-dependent phospholipase and lysophospholipase activities, with a major role in membrane lipid remodeling and biosynthesis of lipid mediators of the inflammatory response (PubMed:10358058, PubMed:14709560, PubMed:16617059, P
PDB 1BCI , 1CJY , 1RLW
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00168 C2 18 123 C2 domain Domain
PF01735 PLA2_B 190 675 Lysophospholipase catalytic domain Family
Tissue specificity TISSUE SPECIFICITY: Expressed in various cells and tissues such as macrophages, neutrophils, fibroblasts and lung endothelium. Expressed in platelets (at protein level) (PubMed:25102815). {ECO:0000269|PubMed:25102815}.
Sequence
Sequence length 749
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Glycerophospholipid metabolism
Ether lipid metabolism
Arachidonic acid metabolism
Linoleic acid metabolism
alpha-Linolenic acid metabolism
Metabolic pathways
MAPK signaling pathway
Ras signaling pathway
Phospholipase D signaling pathway
Necroptosis
Vascular smooth muscle contraction
VEGF signaling pathway
Platelet activation
Fc epsilon RI signaling pathway
Fc gamma R-mediated phagocytosis
Glutamatergic synapse
Serotonergic synapse
Long-term depression
Inflammatory mediator regulation of TRP channels
GnRH signaling pathway
Ovarian steroidogenesis
Oxytocin signaling pathway
Choline metabolism in cancer
  phospho-PLA2 pathway
Acyl chain remodelling of PC
Acyl chain remodeling of CL
Acyl chain remodelling of PS
Acyl chain remodelling of PE
Acyl chain remodelling of PI
Acyl chain remodelling of PG
Hydrolysis of LPC
Synthesis of PA
Arachidonic acid metabolism
ADP signalling through P2Y purinoceptor 1
Platelet sensitization by LDL
COPI-independent Golgi-to-ER retrograde traffic
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
34
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
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder Pathogenic rs121434634, rs121434635, rs1557895416, rs1557901999, rs1571392612 RCV000009647
RCV000009648
RCV000766189
RCV000766190
RCV000995604
★★★★★
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
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA, OCCUPATIONAL CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER CTD, Disgenet
CTD, 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 Coronary Syndrome Coronary Syndrome BEFREE 29549312
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 20112284
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 12048163
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 21198294
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 30249885
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 19795129
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 16151530 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 22832605 Stimulate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Late Onset Alzheimer disease BEFREE 20464283
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 28993924
★☆☆☆☆
Found in Text Mining only