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

Gene ID: 8398, updated on 11-Jun-2021

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
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
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Genomic context

See PLA2G6 in Genome Data Viewer
Location:
22q13.1
Exon count:
18
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (38111495..38181830, complement)
105.20201022 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 solute carrier family 16 member 8 Neighboring gene BAR/IMD domain containing adaptor protein 2 like 2 Neighboring gene Sharpr-MPRA regulatory region 6169 Neighboring gene MAF bZIP transcription factor F 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

Associated conditions

Description Tests
Biological, clinical and population relevance of 95 loci for blood lipids.
GeneReviews: Not available
Discovery and refinement of loci associated with lipid levels.
GeneReviews: Not available
Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk.
GeneReviews: Not available
Genome-wide association study identifies nidogen 1 (NID1) as a susceptibility locus to cutaneous nevi and melanoma risk.
GeneReviews: Not available
Genome-wide association study identifies three loci associated with melanoma risk.
GeneReviews: Not available
Genome-wide association study identifies three new melanoma susceptibility loci.
GeneReviews: Not available
Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi.
GeneReviews: Not available
Infantile neuroaxonal dystrophy Compare labs
Neurodegeneration with brain iron accumulation 2b Compare labs
Parkinson disease 14
MedGen: C2751842 OMIM: 612953 GeneReviews: Parkinson Disease Overview
Compare labs

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

Homology

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 ATP-dependent protein binding IEA
Inferred from Electronic Annotation
more info
 
enables calcium-independent phospholipase A2 activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables lysophospholipase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables myristoyl-CoA hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
enables palmitoyl-CoA hydrolase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables palmitoyl-CoA hydrolase 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 phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine) IEA
Inferred from Electronic Annotation
more info
 
enables phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine) IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein kinase binding IEA
Inferred from Electronic Annotation
more info
 
enables serine hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in Fc-gamma receptor signaling pathway involved in phagocytosis TAS
Traceable Author Statement
more info
 
involved_in antibacterial humoral response IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cardiolipin acyl-chain remodeling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cardiolipin acyl-chain remodeling IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cardiolipin biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in chemotaxis IEA
Inferred from Electronic Annotation
more info
 
involved_in maternal process involved in female pregnancy IEA
Inferred from Electronic Annotation
more info
 
involved_in memory IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of synaptic transmission, glutamatergic IEA
Inferred from Electronic Annotation
more info
 
involved_in phosphatidic acid metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in phosphatidylcholine acyl-chain remodeling TAS
Traceable Author Statement
more info
 
involved_in phosphatidylcholine catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in phosphatidylethanolamine acyl-chain remodeling TAS
Traceable Author Statement
more info
 
involved_in phosphatidylethanolamine catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in platelet activating factor metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of arachidonic acid secretion IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of ceramide biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of cytosolic calcium ion concentration IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of exocytosis IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of insulin secretion involved in cellular response to glucose stimulus ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of protein kinase C signaling IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of release of cytochrome c from mitochondria IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of store-operated calcium channel activity IEA
Inferred from Electronic Annotation
more info
 
involved_in response to endoplasmic reticulum stress IEA
Inferred from Electronic Annotation
more info
 
involved_in urinary bladder smooth muscle contraction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in centriolar satellite IDA
Inferred from Direct Assay
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IEA
Inferred from Electronic Annotation
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/Swiss-Prot
    O60733
    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/Swiss-Prot
    O60733
    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
    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
    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
    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
    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
    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
    O60733
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

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