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

Gene ID: 123745, updated on 5-Mar-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
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Genomic context

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Location:
15q15.1
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (41981582..42050703, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (39787553..39856691, complement)
105.20220307 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: 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. 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 (17) 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)

Genotypes

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 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_2023_10

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 info@ncbi.nlm.nih.gov for further information.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q3MJ16.4 GenPept UniProtKB/Swiss-Prot:Q3MJ16

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