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    PLA2G7 phospholipase A2 group VII [ Homo sapiens (human) ]

    Gene ID: 7941, updated on 3-Apr-2024

    Summary

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    Official Symbol
    PLA2G7provided by HGNC
    Official Full Name
    phospholipase A2 group VIIprovided by HGNC
    Primary source
    HGNC:HGNC:9040
    See related
    Ensembl:ENSG00000146070 MIM:601690; AllianceGenome:HGNC:9040
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PAFAD; PAFAH; LP-PLA2; LDL-PLA2
    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 variants encoding the same protein have been found for this gene.[provided by RefSeq, Dec 2009]
    Expression
    Broad expression in appendix (RPKM 6.4), lymph node (RPKM 5.5) and 18 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    6p12.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (46704201..46735721, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (46541848..46573478, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (46671938..46703458, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene cytochrome P450 family 39 subfamily A member 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:46542802-46543302 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:46543303-46543803 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24652 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24653 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17272 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24654 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17273 Neighboring gene solute carrier family 25 member 27 Neighboring gene TDRD6 and SLC25A27 antisense RNA 1 Neighboring gene tudor domain containing 6 Neighboring gene ankyrin repeat domain 66 Neighboring gene meprin A subunit alpha

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Bioinformatics analysis of PLA2G7 as an immune-related biomarker in COPD by promoting expansion and suppressive functions of MDSCs. Zhao X, et al. Int Immunopharmacol, 2023 Jul. PMID 37270927
    2. [Serum lipoprotein-associated phospholipase A2 level is positively correlated with the recurrence risk of acute ischemic cerebral infarction in hypertensive patients]. Liang L, et al. Nan Fang Yi Ke Da Xue Xue Bao, 2023 Feb 20. PMID 36946054, Free PMC Article
    3. PLA2G7/PAF-AH as Potential Negative Regulator of the Wnt Signaling Pathway Mediates Protective Effects in BRCA1 Mutant Breast Cancer. Liao Y, et al. Int J Mol Sci, 2023 Jan 3. PMID 36614323, Free PMC Article
    4. Correlation of lipoprotein-associated phospholipase A2 and cerebral microbleeds in patients with acute ischaemic stroke. Zhang X, et al. BMC Neurol, 2022 Dec 14. PMID 36517761, Free PMC Article
    5. Association Lp-PLA2 Gene Polymorphisms with Coronary Heart Disease. Ma S, et al. Dis Markers, 2022. PMID 35818585, Free PMC Article

    See all (325) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Bioinformatics Analysis Identifies PLA2G7 as a Key Antigen-Presenting Prognostic Related Gene Promoting Hepatocellular Carcinoma through the STAT1/PD-L1 Axis.
      Title: Bioinformatics Analysis Identifies PLA2G7 as a Key Antigen-Presenting Prognostic Related Gene Promoting Hepatocellular Carcinoma through the STAT1/PD-L1 Axis.
    2. Lipoprotein-associated phospholipase A2 predicts cardiovascular death in patients on maintenance hemodialysis: a 7-year prospective cohort study.
      Title: Lipoprotein-associated phospholipase A2 predicts cardiovascular death in patients on maintenance hemodialysis: a 7-year prospective cohort study.
    3. The association between circulating Hcy and Lp-PLA2 levels and poststroke depression: A meta-analysis.
      Title: The association between circulating Hcy and Lp-PLA2 levels and poststroke depression: A meta-analysis.
    4. The value of serum lipoprotein-associated phospholipase A2, ischemia-modified albumin, and cystatin C in predicting coronary heart disease risk: a single center retrospective cohort study.
      Title: The value of serum lipoprotein-associated phospholipase A2, ischemia-modified albumin, and cystatin C in predicting coronary heart disease risk: a single center retrospective cohort study.
    5. Sudden Sensorineural Hearing Loss Is Related to Endothelial Progenitor Cells and Lipoprotein-Associated Phospholipase A2.
      Title: Sudden Sensorineural Hearing Loss Is Related to Endothelial Progenitor Cells and Lipoprotein-Associated Phospholipase A2.
    6. Lipoprotein-Associated Phospholipase A2 has Comparable Ability as Anthropometric Indices to Discriminate Cardiovascular Disease Risk: A Cross-Sectional Study.
      Title: Lipoprotein-Associated Phospholipase A2 has Comparable Ability as Anthropometric Indices to Discriminate Cardiovascular Disease Risk: A Cross-Sectional Study.
    7. Lipoprotein-Associated Phospholipase A2 Correlates with Reduced Left Ventricle Ejection Fraction in Hemodialysis Patients.
      Title: Lipoprotein-Associated Phospholipase A2 Correlates with Reduced Left Ventricle Ejection Fraction in Hemodialysis Patients.
    8. The diagnostic value of lipoprotein-associated phospholipase A2 in early diabetic nephropathy.
      Title: The diagnostic value of lipoprotein-associated phospholipase A2 in early diabetic nephropathy.
    9. Bioinformatics analysis of PLA2G7 as an immune-related biomarker in COPD by promoting expansion and suppressive functions of MDSCs.
      Title: Bioinformatics analysis of PLA2G7 as an immune-related biomarker in COPD by promoting expansion and suppressive functions of MDSCs.
    10. [Serum lipoprotein-associated phospholipase A2 level is positively correlated with the recurrence risk of acute ischemic cerebral infarction in hypertensive patients].
      Title: [Serum lipoprotein-associated phospholipase A2 level is positively correlated with the recurrence risk of acute ischemic cerebral infarction in hypertensive patients].
    Submit: New GeneRIF Correction See all GeneRIFs (284)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Platelet-activating factor acetylhydrolase deficiency
    MedGen: C3280315 OMIM: 614278 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Eight genetic loci associated with variation in lipoprotein-associated phospholipase A2 mass and activity and coronary heart disease: meta-analysis of genome-wide association studies from five community-based studies.
    EBI GWAS Catalog
    Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy.
    EBI GWAS Catalog
    Genome-wide association study of Lp-PLA(2) activity and mass in the Framingham Heart Study.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 downregulates the expression of phospholipase A2, group VII (PLA2G7) in human B cells PubMed
    env HIV-1 gp120 induces a specific phospholipase A2 (PLA2) activation in lymphocytes through binding to CD4, but this effect is not sufficient to accomplish virus/cell fusion PubMed
    env HIV-1 gp120 causes an activation of phospholipase A2, resulting in the increased release of arachidonic acid, which may sensitize the NMDA receptor PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 1-alkyl-2-acetylglycerophosphocholine esterase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables 1-alkyl-2-acetylglycerophosphocholine esterase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables calcium-independent phospholipase A2 activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables hydrolase activity, acting on ester bonds TAS
    Traceable Author Statement
    more info
    		  
    enables phospholipid binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in lipid oxidation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in low-density lipoprotein particle remodeling IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in peptide hormone processing TAS
    Traceable Author Statement
    more info
    		  
    involved_in phosphatidylcholine catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in plasma lipoprotein particle oxidation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in platelet activating factor catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in platelet activating factor metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of inflammatory response TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of monocyte chemotaxis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    part_of high-density lipoprotein particle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of low-density lipoprotein particle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    platelet-activating factor acetylhydrolase
    Names
    1-alkyl-2-acetylglycerophosphocholine esterase
    2-acetyl-1-alkylglycerophosphocholine esterase
    LDL-PLA(2)
    LDL-associated phospholipase A2
    PAF 2-acylhydrolase
    PAF acetylhydrolase
    gVIIA-PLA2
    group-VIIA phospholipase A2
    lipoprotein-associated phospholipase A2
    phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)
    NP_001161829.1
    NP_005075.3
    XP_005249465.1
    XP_047275315.1
    XP_047275316.1
    XP_054212394.1
    XP_054212395.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016204.1 RefSeqGene

      Range
      5319..36493
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001168357.2 → NP_001161829.1  platelet-activating factor acetylhydrolase precursor

      See identical proteins and their annotated locations for NP_001161829.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AL451143, AL591242, BC025674, BC038452
      Consensus CDS
      CCDS4917.1
      UniProtKB/Swiss-Prot
      A5HTT5, Q13093, Q15692, Q5VTT1, Q8IVA2
      UniProtKB/TrEMBL
      A8K2W6
      Related
      ENSP00000445666.1, ENST00000537365.1
      Conserved Domains (2) summary
      COG1073
      Location:124 → 294
      FrsA; Fermentation-respiration switch protein FrsA, has esterase activity, DUF1100 family [Signal transduction mechanisms]
      pfam03403
      Location:48 → 416
      PAF-AH_p_II; Platelet-activating factor acetylhydrolase, isoform II

    2. NM_005084.4 → NP_005075.3  platelet-activating factor acetylhydrolase precursor

      See identical proteins and their annotated locations for NP_005075.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AL591242, BC025674, BP326231, U20157
      Consensus CDS
      CCDS4917.1
      UniProtKB/Swiss-Prot
      A5HTT5, Q13093, Q15692, Q5VTT1, Q8IVA2
      UniProtKB/TrEMBL
      A8K2W6
      Related
      ENSP00000274793.7, ENST00000274793.12
      Conserved Domains (2) summary
      COG1073
      Location:124 → 294
      FrsA; Fermentation-respiration switch protein FrsA, has esterase activity, DUF1100 family [Signal transduction mechanisms]
      pfam03403
      Location:48 → 416
      PAF-AH_p_II; Platelet-activating factor acetylhydrolase, isoform II

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      46704201..46735721 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047419359.1 → XP_047275315.1  platelet-activating factor acetylhydrolase isoform X3

    2. XM_005249408.5 → XP_005249465.1  platelet-activating factor acetylhydrolase isoform X1

      See identical proteins and their annotated locations for XP_005249465.1

      UniProtKB/Swiss-Prot
      A5HTT5, Q13093, Q15692, Q5VTT1, Q8IVA2
      UniProtKB/TrEMBL
      A8K2W6
      Conserved Domains (2) summary
      COG1073
      Location:124 → 294
      FrsA; Fermentation-respiration switch protein FrsA, has esterase activity, DUF1100 family [Signal transduction mechanisms]
      pfam03403
      Location:48 → 416
      PAF-AH_p_II; Platelet-activating factor acetylhydrolase, isoform II

    3. XM_047419360.1 → XP_047275316.1  platelet-activating factor acetylhydrolase isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      46541848..46573478 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356419.1 → XP_054212394.1  platelet-activating factor acetylhydrolase isoform X1

      UniProtKB/Swiss-Prot
      A5HTT5, Q13093, Q15692, Q5VTT1, Q8IVA2

    2. XM_054356420.1 → XP_054212395.1  platelet-activating factor acetylhydrolase isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q13093.1 GenPept UniProtKB/Swiss-Prot:Q13093

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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