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    PLA2G4E phospholipase A2 group IVE [ Homo sapiens (human) ]

    Gene ID: 123745, updated on 10-Dec-2024

    Summary

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    Official Symbol
    PLA2G4Eprovided by HGNC
    Official Full Name
    phospholipase A2 group IVEprovided by HGNC
    Primary source
    HGNC:HGNC:24791
    See related
    Ensembl:ENSG00000188089 MIM:620649; AllianceGenome:HGNC:24791
    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
    Summary
    This gene encodes a member of the cytosolic phospholipase A2 group IV family. Members of this family are involved in regulation of membrane tubule-mediated transport. The enzyme encoded by this member of the family plays a role in trafficking through the clathrin-independent endocytic pathway. The enzyme regulates the recycling process via formation of tubules that transport internalized clathrin-independent cargo proteins back to the cell surface. [provided by RefSeq, Jan 2017]
    Expression
    Restricted expression toward skin (RPKM 22.1) See more
    Orthologs
    mouse all
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    Genomic context

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    See PLA2G4E in Genome Data Viewer
    Location:
    15q15.1
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (41981582..42050703, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (39787553..39856691, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (42273780..42342901, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene EH domain containing 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:42218089-42218606 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9289 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:42221112-42221615 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9291 Neighboring gene EHD4 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9292 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:42234574-42235431 Neighboring gene uncharacterized LOC124903477 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9293 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9294 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9295 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6369 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6370 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6371 Neighboring gene PLA2G4E antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:42300221-42300451 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:42305817-42305995 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6372 Neighboring gene uncharacterized LOC105370793 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:42337546-42337706 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:42372926-42373474 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:42373475-42374022 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:42376405-42377604 Neighboring gene phospholipase A2 group IVD Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:42383636-42384610 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:42385585-42386559 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:42388958-42389458 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6373 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:42438231-42438731 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:42441913-42442700 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:42442839-42442991 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:42446257-42446767 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:42448559-42449274 Neighboring gene phospholipase A2 group IVF

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. PLA2G4E, a candidate gene for resilience in Alzheimer´s disease and a new target for dementia treatment. Pérez-González M, et al. Prog Neurobiol, 2020 Aug. PMID 32380223
    2. Intracellular Ca(2+)-dependent formation of N-acyl-phosphatidylethanolamines by human cytosolic phospholipase A(2)ε. Binte Mustafiz SS, et al. Biochim Biophys Acta Mol Cell Biol Lipids, 2019 Dec. PMID 31473348
    3. The role of intracellular anionic phospholipids in the production of N-acyl-phosphatidylethanolamines by cytosolic phospholipase A2ɛ. Binte Mustafiz SS, et al. J Biochem, 2019 Apr 1. PMID 30517655
    4. Whole-exome sequencing and gene-based rare variant association tests suggest that PLA2G4E might be a risk gene for panic disorder. Morimoto Y, et al. Transl Psychiatry, 2018 Feb 2. PMID 29391400, Free PMC Article
    5. Cytosolic phospholipase A₂ε drives recycling through the clathrin-independent endocytic route. Capestrano M, et al. J Cell Sci, 2014 Mar 1. PMID 24413173

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PLA2G4E, a candidate gene for resilience in Alzheimer s disease and a new target for dementia treatment.
      Title: PLA2G4E, a candidate gene for resilience in Alzheimer´s disease and a new target for dementia treatment.
    2. Cytosolic phospholipase A2 epsilon (cPLA2-epsilon) Ca2+-dependently produces N-acyl-phosphatidylethanolamine.
      Title: Intracellular Ca(2+)-dependent formation of N-acyl-phosphatidylethanolamines by human cytosolic phospholipase A(2)ε.
    3. The role of intracellular anionic phospholipids in the production of N-acyl-phosphatidylethanolamines by cytosolic phospholipase A2varepsilon.
      Title: The role of intracellular anionic phospholipids in the production of N-acyl-phosphatidylethanolamines by cytosolic phospholipase A2ɛ.
    4. PLA2G4E may be be a risk gene for panic disorder.
      Title: Whole-exome sequencing and gene-based rare variant association tests suggest that PLA2G4E might be a risk gene for panic disorder.
    5. Cytoplasmic PLA2 epsilonepsilon is a new important regulator of trafficking processes within the clathrin-independent endocytic and recycling route.
      Title: Cytosolic phospholipase A₂ε drives recycling through the clathrin-independent endocytic route.
    6. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    Submit: New GeneRIF Correction

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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

    Clone Names

    • FLJ45651, MGC126633, MGC126661

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables N-acyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calcium-dependent phospholipase A2 activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calcium-dependent phospholipid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calcium-independent phospholipase A2 activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphatidylinositol-3,4,5-trisphosphate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables phosphatidylinositol-3,4-bisphosphate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables phosphatidylinositol-3,5-bisphosphate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables phosphatidylinositol-3-phosphate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables phosphatidylinositol-4,5-bisphosphate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables phosphatidylinositol-4-phosphate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables phosphatidylinositol-5-phosphate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables phospholipase A1 activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in N-acylphosphatidylethanolamine metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in glycerophospholipid catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in phosphatidylinositol acyl-chain remodeling TAS
    Traceable Author Statement
    more info
    		  
    involved_in positive regulation of endocytic recycling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in early endosome membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in lysosomal membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    cytosolic phospholipase A2 epsilon
    Names
    cPLA2-epsilon
    calcium-dependent N-acyltransferase
    NP_001193599.1
    NP_001382477.1
    XP_011519540.1
    XP_011519541.1
    XP_047288114.1
    XP_047288115.1
    XP_047288116.1
    XP_054233279.1
    XP_054233280.1
    XP_054233281.1
    XP_054233282.1
    XP_054233283.1

    NCBI Reference Sequences (RefSeq)

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    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_052806.1 RefSeqGene

      Range
      34662..74122
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001206670.1 → NP_001193599.1  cytosolic phospholipase A2 epsilon isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC039056, AI224165, BC101584
      Consensus CDS
      CCDS55962.1
      UniProtKB/Swiss-Prot
      B7WPN2, Q3MJ16, Q6ZSC0
      Related
      ENSP00000382434.3, ENST00000399518.3
      Conserved Domains (2) summary
      cd07201
      Location:320 → 863
      cPLA2_Grp-IVB-IVD-IVE-IVF; Group IVB, IVD, IVE, and IVF cytosolic phospholipase A2; catalytic domain; Ca-dependent
      cd04036
      Location:69 → 177
      C2_cPLA2; C2 domain present in cytosolic PhosphoLipase A2 (cPLA2)

    2. NM_001395548.1 → NP_001382477.1  cytosolic phospholipase A2 epsilon isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC039056
      Consensus CDS
      CCDS91983.1
      UniProtKB/TrEMBL
      A0A8Q3SIG9, A0A8Q3WM91
      Related
      ENSP00000512406.1, ENST00000696112.1
      Conserved Domains (2) summary
      cd07201
      Location:291 → 834
      cPLA2_Grp-IVB-IVD-IVE-IVF; Group IVB, IVD, IVE, and IVF cytosolic phospholipase A2; catalytic domain; Ca-dependent
      cd04036
      Location:40 → 148
      C2_cPLA2; C2 domain present in cytosolic PhosphoLipase A2 (cPLA2)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      41981582..42050703 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011521238.2 → XP_011519540.1  cytosolic phospholipase A2 epsilon isoform X3

      UniProtKB/Swiss-Prot
      Q3MJ16
      Conserved Domains (2) summary
      pfam01735
      Location:4 → 427
      PLA2_B; Lysophospholipase catalytic domain
      cl11396
      Location:1 → 487
      Patatin_and_cPLA2; Patatins and Phospholipases

    2. XM_011521239.2 → XP_011519541.1  cytosolic phospholipase A2 epsilon isoform X4

      Related
      ENST00000547930.5
      Conserved Domains (1) summary
      cl11396
      Location:2 → 448
      Patatin_and_cPLA2; Patatins and Phospholipases

    3. XM_047432158.1 → XP_047288114.1  cytosolic phospholipase A2 epsilon isoform X1

    4. XM_047432159.1 → XP_047288115.1  cytosolic phospholipase A2 epsilon isoform X2

      UniProtKB/TrEMBL
      A0A8Q3SIH7
      Related
      ENSP00000512409.1, ENST00000696115.1

    5. XM_047432160.1 → XP_047288116.1  cytosolic phospholipase A2 epsilon isoform X2

      UniProtKB/TrEMBL
      A0A8Q3SIH7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      39787553..39856691 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377307.1 → XP_054233282.1  cytosolic phospholipase A2 epsilon isoform X3

    2. XM_054377308.1 → XP_054233283.1  cytosolic phospholipase A2 epsilon isoform X4

    3. XM_054377304.1 → XP_054233279.1  cytosolic phospholipase A2 epsilon isoform X1

    4. XM_054377305.1 → XP_054233280.1  cytosolic phospholipase A2 epsilon isoform X2

    5. XM_054377306.1 → XP_054233281.1  cytosolic phospholipase A2 epsilon isoform X2

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001080490.1: Suppressed sequence

      Description
      NM_001080490.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

    2. NM_198442.1: Suppressed sequence

      Description
      NM_198442.1: This RefSeq record was removed by NCBI staff. Contact [email protected] for further information.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3MJ16.4 GenPept UniProtKB/Swiss-Prot:Q3MJ16

    Gene LinkOut

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

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