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    PLA2G6 phospholipase A2 group VI [ Homo sapiens (human) ]

    Gene ID: 8398, updated on 17-Jun-2024

    Summary

    Official Symbol
    PLA2G6provided by HGNC
    Official Full Name
    phospholipase A2 group VIprovided by HGNC
    Primary source
    HGNC:HGNC:9039
    See related
    Ensembl:ENSG00000184381 MIM:603604; AllianceGenome:HGNC:9039
    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
    GVI; PLA2; INAD1; NBIA2; iPLA2; NBIA2A; NBIA2B; PARK14; PNPLA9; CaI-PLA2; IPLA2-VIA; iPLA2beta
    Summary
    The protein encoded by this gene is an A2 phospholipase, a class of enzyme that catalyzes the release of fatty acids from phospholipids. The encoded protein may play a role in phospholipid remodelling, arachidonic acid release, leukotriene and prostaglandin synthesis, fas-mediated apoptosis, and transmembrane ion flux in glucose-stimulated B-cells. Several transcript variants encoding multiple isoforms have been described, but the full-length nature of only three of them have been determined to date. [provided by RefSeq, Dec 2010]
    Expression
    Broad expression in testis (RPKM 12.7), gall bladder (RPKM 8.6) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PLA2G6 in Genome Data Viewer
    Location:
    22q13.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (38111495..38181830, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (38574672..38644982, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (38507502..38577837, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373027 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:38476553-38477334 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13706 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:38479675-38480456 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:38482017-38482796 Neighboring gene solute carrier family 16 member 8 Neighboring gene BAR/IMD domain containing adaptor protein 2 like 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38494339-38494893 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:38510521-38511423 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38518609-38519118 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38538756-38539256 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18993 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38559728-38560228 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38560229-38560729 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 22:38561911 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 22:38570189 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 22:38572440 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18995 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18996 Neighboring gene Sharpr-MPRA regulatory region 6169 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 22:38580917 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18999 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13707 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13708 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13709 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 22:38600595 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13710 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 22:38603571 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 22:38607237 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 22:38607534 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 22:38608227 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38609813-38610394 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13711 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13712 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:38614213-38615412 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38618750-38619250 Neighboring gene MAF bZIP transcription factor F Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38620666-38621166 Neighboring gene transmembrane protein 184B Neighboring gene small nucleolar RNA, H/ACA box 92

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Biological, clinical and population relevance of 95 loci for blood lipids.
    EBI GWAS Catalog
    Discovery and refinement of loci associated with lipid levels.
    EBI GWAS Catalog
    Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk.
    EBI GWAS Catalog
    Genome-wide association study identifies nidogen 1 (NID1) as a susceptibility locus to cutaneous nevi and melanoma risk.
    EBI GWAS Catalog
    Genome-wide association study identifies three loci associated with melanoma risk.
    EBI GWAS Catalog
    Genome-wide association study identifies three new melanoma susceptibility loci.
    EBI GWAS Catalog
    Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 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
    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

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 1-alkyl-2-acetylglycerophosphocholine esterase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables calcium-independent phospholipase A2 activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables calcium-independent phospholipase A2 activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables hydrolase activity TAS
    Traceable Author Statement
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables long-chain fatty acyl-CoA hydrolase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables long-chain fatty acyl-CoA hydrolase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables lysophospholipase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phosphatidyl phospholipase B activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables phospholipase A2 activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables serine hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in microtubule cytoskeleton IDA
    Inferred from Direct Assay
    more info
     
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    located_in pseudopodium IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    85/88 kDa calcium-independent phospholipase A2
    Names
    2-lysophosphatidylcholine acylhydrolase
    85 kDa calcium-independent phospholipase A2
    GVI PLA2
    iPLA2-beta
    intracellular membrane-associated calcium-independent phospholipase A2 beta
    neurodegeneration with brain iron accumulation 2
    palmitoyl-CoA hydrolase
    patatin-like phospholipase domain-containing protein 9
    phospholipase A2, group VI (cytosolic, calcium-independent)
    NP_001004426.1
    NP_001186491.1
    NP_001336793.1
    NP_001336794.1
    NP_001336795.1
    NP_001336796.1
    NP_001336797.1
    NP_001336798.1
    NP_003551.2

    NCBI Reference Sequences (RefSeq)

    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_007094.3 RefSeqGene

      Range
      37949..108284
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1015

    mRNA and Protein(s)

    1. NM_001004426.3NP_001004426.1  85/88 kDa calcium-independent phospholipase A2 isoform b

      See identical proteins and their annotated locations for NP_001004426.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but lacks an internal segment compared to isoform a. Variants 2, 3, 5 and 6 encode the same isoform (b). Isoform b is found in the cytoplasm while isoform a is membrane-bound.
      Source sequence(s)
      AF064594, BC036742, BC051904, DC376896
      Consensus CDS
      CCDS33645.1
      UniProtKB/TrEMBL
      A8K460
      Related
      ENSP00000335149.3, ENST00000335539.7
      Conserved Domains (4) summary
      cd07212
      Location:426739
      Pat_PNPLA9; Patatin-like phospholipase domain containing protein 9
      cd00204
      Location:214370
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:286314
      ANK; ANK repeat [structural motif]
      pfam13637
      Location:350395
      Ank_4; Ankyrin repeats (many copies)
    2. NM_001199562.3NP_001186491.1  85/88 kDa calcium-independent phospholipase A2 isoform b

      See identical proteins and their annotated locations for NP_001186491.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and lacks an in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but lacks an internal segment compared to isoform a. Variants 2, 3, 5 and 6 encode the same protein (isoform b). Isoform b is found in the cytoplasm while isoform a is membrane-bound.
      Source sequence(s)
      AF064594, AK290825, BC051904, DC409316
      Consensus CDS
      CCDS33645.1
      UniProtKB/TrEMBL
      A8K460
      Related
      ENSP00000386100.1, ENST00000402064.5
      Conserved Domains (4) summary
      cd07212
      Location:426739
      Pat_PNPLA9; Patatin-like phospholipase domain containing protein 9
      cd00204
      Location:214370
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:286314
      ANK; ANK repeat [structural motif]
      pfam13637
      Location:350395
      Ank_4; Ankyrin repeats (many copies)
    3. NM_001349864.2NP_001336793.1  85/88 kDa calcium-independent phospholipase A2 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Both variants 1 and 4 encode the same protein (isoform a). Isoform a is membrane-bound while isoform b is found in the cytoplasm.
      Source sequence(s)
      AF064594, BC036742, BC051904, DC376896
      Consensus CDS
      CCDS13967.1
      UniProtKB/Swiss-Prot
      A8K597, B0QYE8, O60733, O75645, Q8N452, Q9UG29, Q9UIT0, Q9Y671
      UniProtKB/TrEMBL
      A0A590UJC7
      Related
      ENSP00000499712.1, ENST00000663895.1
      Conserved Domains (3) summary
      cd07212
      Location:480793
      Pat_PNPLA9; Patatin-like phospholipase domain containing protein 9
      cd00204
      Location:285403
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:286314
      ANK; ANK repeat [structural motif]
    4. NM_001349865.2NP_001336794.1  85/88 kDa calcium-independent phospholipase A2 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and lacks an in-frame exon in the central coding region, compared to variant 1. The resulting isoform (b) has the same N- and C-termini but lacks an internal segment compared to isoform a. Variants 2, 3, 5 and 6 encode the same isoform (b). Isoform b is found in the cytoplasm while isoform a is membrane-bound.
      Source sequence(s)
      AF064594, AK290825, BC051904, DC318003, DC376896
      Consensus CDS
      CCDS33645.1
      UniProtKB/TrEMBL
      A8K460
      Conserved Domains (4) summary
      cd07212
      Location:426739
      Pat_PNPLA9; Patatin-like phospholipase domain containing protein 9
      cd00204
      Location:214370
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:286314
      ANK; ANK repeat [structural motif]
      pfam13637
      Location:350395
      Ank_4; Ankyrin repeats (many copies)
    5. NM_001349866.2NP_001336795.1  85/88 kDa calcium-independent phospholipase A2 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and lacks an in-frame exon in the central coding region, compared to variant 1. The resulting isoform (b) has the same N- and C-termini but lacks an internal segment compared to isoform a. Variants 2, 3, 5 and 6 encode the same isoform (b). Isoform b is found in the cytoplasm while isoform a is membrane-bound.
      Source sequence(s)
      AF064594, BC051904, DC400693
      Consensus CDS
      CCDS33645.1
      UniProtKB/TrEMBL
      A8K460
      Conserved Domains (4) summary
      cd07212
      Location:426739
      Pat_PNPLA9; Patatin-like phospholipase domain containing protein 9
      cd00204
      Location:214370
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:286314
      ANK; ANK repeat [structural motif]
      pfam13637
      Location:350395
      Ank_4; Ankyrin repeats (many copies)
    6. NM_001349867.2NP_001336796.1  85/88 kDa calcium-independent phospholipase A2 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) contains multiple differences in the 5' UTR, one of which results in use of a downstream start codon, compared to variant 1. The resulting isoform (c) has a shorter N-terminus than isoform a.
      Source sequence(s)
      AF064594, AK290825, BC051904, DA290853, DA500195, DC409316
      UniProtKB/TrEMBL
      B3KU52
      Conserved Domains (4) summary
      cd07212
      Location:302615
      Pat_PNPLA9; Patatin-like phospholipase domain containing protein 9
      cd00204
      Location:107225
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:108136
      ANK; ANK repeat [structural motif]
      cl26073
      Location:12199
      Ank_2; Ankyrin repeats (3 copies)
    7. NM_001349868.2NP_001336797.1  85/88 kDa calcium-independent phospholipase A2 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR and lacks an exon in the 5' coding region, compared to variant 1. These differences result in use of an alternate start codon, resulting in an isoform (d) with a shorter and distinct N-terminus compared to isoform a.
      Source sequence(s)
      AF064594, BC036742, BC051904, BE278797, DC409316
      UniProtKB/TrEMBL
      B3KU52
      Conserved Domains (3) summary
      cd07212
      Location:254567
      Pat_PNPLA9; Patatin-like phospholipase domain containing protein 9
      cd00204
      Location:59177
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:6088
      ANK; ANK repeat [structural motif]
    8. NM_001349869.2NP_001336798.1  85/88 kDa calcium-independent phospholipase A2 isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) contains multiple differences in the 5' UTR, one of which results in use of a downstream start codon, and lacks an alternate in-frame exon in the central coding region, compared to variant 1. The resulting isoform (e) has a shorter N-terminus and lacks an internal segment compared to isoform a.
      Source sequence(s)
      AF064594, AK290825, BC051904, BP251849, DA290853, DC409316
      Conserved Domains (4) summary
      cd07212
      Location:248561
      Pat_PNPLA9; Patatin-like phospholipase domain containing protein 9
      cd00204
      Location:36192
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:108136
      ANK; ANK repeat [structural motif]
      pfam13637
      Location:172217
      Ank_4; Ankyrin repeats (many copies)
    9. NM_003560.4NP_003551.2  85/88 kDa calcium-independent phospholipase A2 isoform a

      See identical proteins and their annotated locations for NP_003551.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Both variants 1 and 4 encode the same protein (isoform a). Isoform a is membrane-bound while isoform b is found in the cytoplasm.
      Source sequence(s)
      AF064594, BC036742, BC051904, DC376896
      Consensus CDS
      CCDS13967.1
      UniProtKB/Swiss-Prot
      A8K597, B0QYE8, O60733, O75645, Q8N452, Q9UG29, Q9UIT0, Q9Y671
      UniProtKB/TrEMBL
      A0A590UJC7
      Related
      ENSP00000333142.3, ENST00000332509.8
      Conserved Domains (3) summary
      cd07212
      Location:480793
      Pat_PNPLA9; Patatin-like phospholipase domain containing protein 9
      cd00204
      Location:285403
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:286314
      ANK; ANK repeat [structural motif]

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      38111495..38181830 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      38574672..38644982 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)