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

Gene ID: 8398, updated on 19-Sep-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
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (38111495..38181830, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (38574672..38644982, complement)
RS_2024_09 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 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 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
 
is_active_in mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
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_001004426.3 → NP_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:426 → 739
    Pat_PNPLA9; Patatin-like phospholipase domain containing protein 9
    cd00204
    Location:214 → 370
    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:286 → 314
    ANK; ANK repeat [structural motif]
    pfam13637
    Location:350 → 395
    Ank_4; Ankyrin repeats (many copies)
  2. NM_001199562.3 → NP_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:426 → 739
    Pat_PNPLA9; Patatin-like phospholipase domain containing protein 9
    cd00204
    Location:214 → 370
    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:286 → 314
    ANK; ANK repeat [structural motif]
    pfam13637
    Location:350 → 395
    Ank_4; Ankyrin repeats (many copies)
  3. NM_001349864.2 → NP_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:480 → 793
    Pat_PNPLA9; Patatin-like phospholipase domain containing protein 9
    cd00204
    Location:285 → 403
    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:286 → 314
    ANK; ANK repeat [structural motif]
  4. NM_001349865.2 → NP_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:426 → 739
    Pat_PNPLA9; Patatin-like phospholipase domain containing protein 9
    cd00204
    Location:214 → 370
    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:286 → 314
    ANK; ANK repeat [structural motif]
    pfam13637
    Location:350 → 395
    Ank_4; Ankyrin repeats (many copies)
  5. NM_001349866.2 → NP_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:426 → 739
    Pat_PNPLA9; Patatin-like phospholipase domain containing protein 9
    cd00204
    Location:214 → 370
    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:286 → 314
    ANK; ANK repeat [structural motif]
    pfam13637
    Location:350 → 395
    Ank_4; Ankyrin repeats (many copies)
  6. NM_001349867.2 → NP_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:302 → 615
    Pat_PNPLA9; Patatin-like phospholipase domain containing protein 9
    cd00204
    Location:107 → 225
    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:108 → 136
    ANK; ANK repeat [structural motif]
    cl26073
    Location:12 → 199
    Ank_2; Ankyrin repeats (3 copies)
  7. NM_001349868.2 → NP_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:254 → 567
    Pat_PNPLA9; Patatin-like phospholipase domain containing protein 9
    cd00204
    Location:59 → 177
    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:60 → 88
    ANK; ANK repeat [structural motif]
  8. NM_001349869.2 → NP_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:248 → 561
    Pat_PNPLA9; Patatin-like phospholipase domain containing protein 9
    cd00204
    Location:36 → 192
    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:108 → 136
    ANK; ANK repeat [structural motif]
    pfam13637
    Location:172 → 217
    Ank_4; Ankyrin repeats (many copies)
  9. NM_003560.4 → NP_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:480 → 793
    Pat_PNPLA9; Patatin-like phospholipase domain containing protein 9
    cd00204
    Location:285 → 403
    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:286 → 314
    ANK; ANK repeat [structural motif]

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_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)