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PLA2G6 Gene(Protein Coding)

Phospholipase A2 Group VI

GCID:
GC22M041920
GIFtS:
57
Genes Participants
UDN Logo

Aliases for PLA2G6 Gene

Aliases for PLA2G6 Gene

  • Phospholipase A2 Group VI 2 3 5
  • Intracellular Membrane-Associated Calcium-Independent Phospholipase A2 Beta 3 4
  • Phospholipase A2, Group VI (Cytosolic, Calcium-Independent) 2 3
  • Patatin-Like Phospholipase Domain-Containing Protein 9 3 4
  • Neurodegeneration With Brain Iron Accumulation 2 2 3
  • IPLA2-Beta 3 4
  • GVI PLA2 3 4
  • CaI-PLA2 3 4
  • PNPLA9 3 4
  • 85/88 KDa Calcium-Independent Phospholipase A2 3
  • 85 KDa Calcium-Independent Phospholipase A2 3
  • Group VI Phospholipase A2 4
  • EC 3.1.1.4 4
  • IPLA2-VIA 3
  • IPLA2beta 3
  • NBIA2A 3
  • NBIA2B 3
  • PARK14 3
  • PLPLA9 4
  • INAD1 3
  • NBIA2 3
  • IPLA2 3
  • PLA2 3
  • GVI 3

External Ids for PLA2G6 Gene

Previous GeneCards Identifiers for PLA2G6 Gene

  • GC22M035122
  • GC22M036750
  • GC22M036827
  • GC22M038507
  • GC22M021473
  • GC22M038395
  • GC22M038519
  • GC22M038829
  • GC22M039967
  • GC22M040657
  • GC22M041106
  • GC22M041510

Summaries for PLA2G6 Gene

Entrez Gene Summary for PLA2G6 Gene

  • 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]

GeneCards Summary for PLA2G6 Gene

PLA2G6 (Phospholipase A2 Group VI) is a Protein Coding gene. Diseases associated with PLA2G6 include Parkinson Disease 14, Autosomal Recessive and Neurodegeneration With Brain Iron Accumulation 2A. Among its related pathways are COPI-independent Golgi-to-ER retrograde traffic and Glycerophospholipid biosynthesis. Gene Ontology (GO) annotations related to this gene include calmodulin binding and ATP-dependent protein binding. An important paralog of this gene is PNPLA8.

UniProtKB/Swiss-Prot for PLA2G6 Gene

  • Catalyzes the release of fatty acids from phospholipids. It has been implicated in normal phospholipid remodeling, nitric oxide-induced or vasopressin-induced arachidonic acid release and in leukotriene and prostaglandin production. May participate in fas mediated apoptosis and in regulating transmembrane ion flux in glucose-stimulated B-cells. Has a role in cardiolipin (CL) deacylation. Required for both speed and directionality of monocyte MCP1/CCL2-induced chemotaxis through regulation of F-actin polymerization at the pseudopods.

  • Isoform ankyrin-iPLA2-1 and isoform ankyrin-iPLA2-2, which lack the catalytic domain, are probably involved in the negative regulation of iPLA2 activity.

Tocris Summary for PLA2G6 Gene

  • Phospholipases are a group of enzymes that hydrolyze phospholipids into fatty acids and other lipophilic molecules. There are four major classes; phospholipase A, phospholipase B, phosphoinositide-specific phospholipase C and phospholipase D.

Gene Wiki entry for PLA2G6 Gene

Additional gene information for PLA2G6 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLA2G6 Gene

Genomics for PLA2G6 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for PLA2G6 Gene

Promoters and enhancers for PLA2G6 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH22I038174 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 574.6 +26.9 26881 8.7 MLX DMAP1 YBX1 IRF4 YY1 SLC30A9 E2F8 ZNF143 MCM3 SP3 PLA2G6 DDX17 MAFF ENSG00000228274 CSNK1E ANKRD54 CBY1 ENSG00000230912 GGA1 TMEM184B
GH22I038691 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 19 -490.9 -490930 10.9 PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 JOSD1 GC22M042669 CBY1 ENSG00000228274 FAM227A TAB1 ENSG00000230912 PLA2G6 CBX7 CBX6
GH22I038171 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 24.5 +32.8 32839 2.6 ELF3 PKNOX1 ARID4B RAD21 RARA YY1 ATF7 THAP11 RXRA SP5 MAFF PLA2G6 BAIAP2L2 TMEM184B GCAT GC22P038194 ENSG00000279080
GH22I038294 Enhancer 1.3 Ensembl ENCODE dbSUPER 24.8 -95.3 -95252 12.5 HDGF PKNOX1 ARID4B SIN3A IRF4 BRCA1 GLIS2 ZNF143 ATF7 FOS PLA2G6 GGA1 TMEM184B BAIAP2L2 PICK1 SOX10 POLR2F MAFF KCNJ4 KDELR3
GH22I038502 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 13.3 -300.0 -300023 5.6 HDGF PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A FEZF1 DMAP1 YBX1 DDX17 ENSG00000228274 JOSD1 RPL3 PLA2G6 SNORD83B KDELR3 KCNJ4 GGA1 FAM227A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PLA2G6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PLA2G6 gene promoter:

Genomic Locations for PLA2G6 Gene

Genomic Locations for PLA2G6 Gene
chr22:38,111,495-38,205,690
(GRCh38/hg38)
Size:
94,196 bases
Orientation:
Minus strand
chr22:38,507,502-38,601,697
(GRCh37/hg19)

Genomic View for PLA2G6 Gene

Genes around PLA2G6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLA2G6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLA2G6 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for PLA2G6 Gene

Proteins for PLA2G6 Gene

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  • Protein details for PLA2G6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60733-PLPL9_HUMAN
    Recommended name:
    85/88 kDa calcium-independent phospholipase A2
    Protein Accession:
    O60733
    Secondary Accessions:
    • A8K597
    • B0QYE8
    • O75645
    • Q8N452
    • Q9UG29
    • Q9UIT0
    • Q9Y671

    Protein attributes for PLA2G6 Gene

    Size:
    806 amino acids
    Molecular mass:
    89903 Da
    Quaternary structure:
    • Forms large oligomeric 270-350 kDa structures.

    Alternative splice isoforms for PLA2G6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PLA2G6 Gene

Protein Expression for PLA2G6 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for PLA2G6 Gene

  • Ubiquitination at isoforms=2719
  • Modification sites at PhosphoSitePlus

Other Protein References for PLA2G6 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PLA2G6 Gene

Domains & Families for PLA2G6 Gene

Gene Families for PLA2G6 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for PLA2G6 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for PLA2G6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PLA2G6: view

No data available for UniProtKB/Swiss-Prot for PLA2G6 Gene

Function for PLA2G6 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for PLA2G6 Gene

GENATLAS Biochemistry:
phospholipase A2,Ca2+independent,group VI,expressed as oligomeric complex in bone,brain and other tissues,involved in the remodeling of membranes allowing arachidonic acid to be placed in the proper position in phospholipids for stimulated release
UniProtKB/Swiss-Prot CatalyticActivity:
Phosphatidylcholine + H(2)O = 1-acylglycerophosphocholine + a carboxylate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by calcium-activated calmodulin.
UniProtKB/Swiss-Prot Function:
Catalyzes the release of fatty acids from phospholipids. It has been implicated in normal phospholipid remodeling, nitric oxide-induced or vasopressin-induced arachidonic acid release and in leukotriene and prostaglandin production. May participate in fas mediated apoptosis and in regulating transmembrane ion flux in glucose-stimulated B-cells. Has a role in cardiolipin (CL) deacylation. Required for both speed and directionality of monocyte MCP1/CCL2-induced chemotaxis through regulation of F-actin polymerization at the pseudopods.
UniProtKB/Swiss-Prot Function:
Isoform ankyrin-iPLA2-1 and isoform ankyrin-iPLA2-2, which lack the catalytic domain, are probably involved in the negative regulation of iPLA2 activity.

Enzyme Numbers (IUBMB) for PLA2G6 Gene

Phenotypes From GWAS Catalog for PLA2G6 Gene

Gene Ontology (GO) - Molecular Function for PLA2G6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004623 phospholipase A2 activity TAS --
GO:0005516 calmodulin binding IEA --
GO:0016787 hydrolase activity TAS --
GO:0017171 serine hydrolase activity IEA --
GO:0019901 protein kinase binding IEA --
genes like me logo Genes that share ontologies with PLA2G6: view
genes like me logo Genes that share phenotypes with PLA2G6: view

Human Phenotype Ontology for PLA2G6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PLA2G6 Gene

MGI Knock Outs for PLA2G6:

Animal Model Products

Clone Products

No data available for miRNA , Transcription Factor Targets and HOMER Transcription for PLA2G6 Gene

Localization for PLA2G6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLA2G6 Gene

Isoform LH-iPLA2: Membrane; Peripheral membrane protein. Note=Recruited to the membrane-enriched pseudopod upon MCP1/CCL2 stimulation in monocytes.
Isoform SH-iPLA2: Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PLA2G6 gene
Compartment Confidence
extracellular 5
cytoskeleton 5
cytosol 5
mitochondrion 4
plasma membrane 2
nucleus 2
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Microtubule organizing center (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PLA2G6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 18714013
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005815 microtubule organizing center IDA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PLA2G6: view

Pathways & Interactions for PLA2G6 Gene

genes like me logo Genes that share pathways with PLA2G6: view

Gene Ontology (GO) - Biological Process for PLA2G6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001934 positive regulation of protein phosphorylation IEA --
GO:0006629 lipid metabolic process IEA --
GO:0006935 chemotaxis IEA --
GO:0007204 positive regulation of cytosolic calcium ion concentration IEA --
GO:0007613 memory IEA --
genes like me logo Genes that share ontologies with PLA2G6: view

No data available for SIGNOR curated interactions for PLA2G6 Gene

Drugs & Compounds for PLA2G6 Gene

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  1. Drug

(69) Drugs for PLA2G6 Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Quinacrine Approved, Investigational Pharma Target, inhibitor 6
Stearic acid Approved, Experimental Pharma 0
calcium Approved Nutra 0
Palmitic Acid Approved, Experimental Pharma Full agonist, Agonist 23
Water Approved Pharma 0

(96) Additional Compounds for PLA2G6 Gene - From: HMDB, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Arachidic acid
  • Arachate
  • Arachic acid
  • Arachidate
  • Arachidic acid
  • Eicosanoate
 506-30-9
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
 15438-31-0
Heptadecanoic acid
  • Heptadecanoate
  • Heptadecanoic acid
  • Margarate
  • Margaric acid
  • Margarinate
 506-12-7
Heptadecanoyl CoA
  • Heptadecanoate
  • Heptadecanoic acid
  • Heptadecanoic acid coa
  • Heptadecanoyl coenzyme A
  • Heptadecanoyl-coA
 3546-17-6
LysoPC(14:0)
  • 1-Myristoyl-glycero-3-phosphocholine
  • LPC(14:0)
  • LPC(14:0/0:0)
  • LyPC(14:0)
  • LyPC(14:0/0:0)

(5) Tocris Compounds for PLA2G6 Gene

Compound Action Cas Number
AACOCF3 Phospholipase A2 inhibitor 149301-79-1
Edelfosine Selective PI-PLC inhibitor, also PAF receptor agonist 77286-66-9
m-3M3FBS Phospholipase C activator 200933-14-8
o-3M3FBS Inactive analog of m-3M3FBS (Cat. No. 1941) 313981-55-4
U 73122 Phospholipase C inhibitor 112648-68-7

(3) ApexBio Compounds for PLA2G6 Gene

Compound Action Cas Number
Anti-Inflammatory Peptide 1 PLA2 inhibitor 118850-71-8
Halobetasol Propionate 66852-54-8
Quercetin dihydrate PLA2 and PI 3-kinase inhibitor 6151-25-3
genes like me logo Genes that share compounds with PLA2G6: view

Drug Products

Transcripts for PLA2G6 Gene

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  1. CRISPR
  2. miRNA
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mRNA/cDNA for PLA2G6 Gene

(26) REFSEQ mRNAs :
(13) Additional mRNA sequences :
(137) Selected AceView cDNA sequences:
(28) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PLA2G6 Gene

Phospholipase A2, group VI (cytosolic, calcium-independent):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PLA2G6 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c · 9d · 9e · 9f ^ 10 ^ 11a · 11b · 11c ^
SP1: - - - - - - - - - -
SP2: - - - - - - - - - - - - - - - - - - - -
SP3: - - - - - - - - -
SP4:
SP5: - - - - - - - - - - - -
SP6:
SP7:
SP8:
SP9:
SP10: - - - - - - - - - - - - - - -
SP11: - - - - -
SP12: - - - - - - -
SP13: - - - - - - - - - - - - -
SP14: - - - - - - - - - - - - -
SP15: - - - - - - - - - -
SP16: - - - - - - - - - - - - - - -
SP17: - - - - - - - -
SP18: - - - - - - - - -
SP19: - - - - - - -
SP20: - - - - - - - - - -
SP21: - - - - - - - - - - -
SP22: - - - - - -
SP23:
SP24: - - - - - - - - -
SP25:
SP26:
SP27:
SP28: - - - - -
SP29:

ExUns: 12a · 12b ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17 ^ 18a · 18b ^ 19a · 19b · 19c ^ 20 ^ 21a · 21b · 21c ^ 22 ^ 23a · 23b ^ 24a · 24b · 24c · 24d ^
SP1: - - - - - - - - -
SP2: - - - - - - - - - - - - -
SP3: - - - - - - - - - - -
SP4: - - - - -
SP5:
SP6: - - - - - -
SP7:
SP8: - -
SP9:
SP10: - - - - - - - - - - - - - - - -
SP11:
SP12:
SP13:
SP14:
SP15:
SP16: - -
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23: -
SP24:
SP25: - - -
SP26:
SP27:
SP28:
SP29:

ExUns: 25 ^ 26a · 26b ^ 27 ^ 28a · 28b ^ 29 ^ 30a · 30b
SP1: - -
SP2: - -
SP3: - -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9: -
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:
SP24:
SP25:
SP26: -
SP27:
SP28:
SP29:

Relevant External Links for PLA2G6 Gene

GeneLoc Exon Structure for
PLA2G6
ECgene alternative splicing isoforms for
PLA2G6

Expression for PLA2G6 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PLA2G6 Gene

mRNA expression in normal human tissues for PLA2G6 Gene
mRNA expression by GTEx for PLA2G6 GenemRNA expression by BioGPS for PLA2G6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PLA2G6 Gene

This gene is overexpressed in Ovary (28.4), Frontal cortex (19.0), Retina (7.9), and Testis (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PLA2G6 Gene



Protein tissue co-expression partners for PLA2G6 Gene

NURSA nuclear receptor signaling pathways regulating expression of PLA2G6 Gene:

PLA2G6

SOURCE GeneReport for Unigene cluster for PLA2G6 Gene:

Hs.170479

mRNA Expression by UniProt/SwissProt for PLA2G6 Gene:

O60733-PLPL9_HUMAN
Tissue specificity: Four different transcripts were found to be expressed in a distinct tissue distribution.

Evidence on tissue expression from TISSUES for PLA2G6 Gene

  • Nervous system(4.9)
  • Pancreas(4.5)
  • Kidney(2)
  • Lung(2)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PLA2G6 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • chin
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • nose
  • pharynx
  • skull
Thorax:
  • esophagus
Abdomen:
  • stomach
Limb:
  • foot
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with PLA2G6: view

No data available for mRNA differential expression in normal tissues for PLA2G6 Gene

Orthologs for PLA2G6 Gene

This gene was present in the common ancestor of animals.

Orthologs for PLA2G6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia PLA2G6 34 33
  • 99.55 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia PLA2G6 33 34
  • 89.87 (n)
cow
(Bos Taurus)
 Mammalia PLA2G6 34 33
  • 88.82 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Pla2g6 16 34 33
  • 87.06 (n)
rat
(Rattus norvegicus)
 Mammalia Pla2g6 33
  • 86.48 (n)
oppossum
(Monodelphis domestica)
 Mammalia PLA2G6 34
  • 69 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia PLA2G6 34
  • 53 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves PLA2G6 34 33
  • 69.7 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia PLA2G6 34
  • 58 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia pla2g6 33
  • 59.95 (n)
zebrafish
(Danio rerio)
 Actinopterygii pla2g6 33 34
  • 59.35 (n)
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.1493 33
fruit fly
(Drosophila melanogaster)
 Insecta CG6718 35
  • 51 (a)
iPLA2-VIA 33 34
  • 49.17 (n)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP004812 33
  • 46.96 (n)
worm
(Caenorhabditis elegans)
 Secernentea F47A4.5 35 33 34
  • 42.09 (n)
D1037.5 35 34
  • 30 (a)
C45B2.6 35
  • 27 (a)
T04B2.5 34
  • 26 (a)
 OneToMany
H23L24.2 34 35
  • 25 (a)
 OneToMany
W07A8.2 34
  • 13 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 36 (a)
 OneToOne
Species where no ortholog for PLA2G6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PLA2G6 Gene

ENSEMBL:
Gene Tree for PLA2G6 (if available)
TreeFam:
Gene Tree for PLA2G6 (if available)

Paralogs for PLA2G6 Gene

Variants for PLA2G6 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for PLA2G6 Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
rs1004616610 uncertain-significance, Infantile neuroaxonal dystrophy 38,120,853(-) G/A coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs1013644449 uncertain-significance, Infantile neuroaxonal dystrophy 38,111,970(-) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs1060499764 likely-pathogenic, Abnormality of brain morphology 38,120,861(-) T/C coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs11570679 benign, likely-benign, not specified, Infantile neuroaxonal dystrophy 38,132,951(-) C/T coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs11570680 benign, conflicting-interpretations-of-pathogenicity, not specified, Infantile neuroaxonal dystrophy 38,132,881(-) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for PLA2G6 Gene

Variant ID Type Subtype PubMed ID
esv2661596 CNV deletion 23128226
esv2724224 CNV deletion 23290073
esv996111 CNV insertion 20482838
nsv1059531 CNV loss 25217958
nsv3623 CNV insertion 18451855
nsv471198 CNV loss 18288195
nsv508732 CNV insertion 20534489
nsv519015 CNV loss 19592680
nsv834193 CNV loss 17160897
nsv834194 CNV loss 17160897

Variation tolerance for PLA2G6 Gene

Residual Variation Intolerance Score: 63.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.66; 45.79% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PLA2G6 Gene

Human Gene Mutation Database (HGMD)
PLA2G6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLA2G6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLA2G6 Gene

Disorders for PLA2G6 Gene

MalaCards: The human disease database

(21) MalaCards diseases for PLA2G6 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PLPL9_HUMAN
  • Neurodegeneration with brain iron accumulation 2A (NBIA2A) [MIM:256600]: A neurodegenerative disease characterized by pathologic axonal swelling and spheroid bodies in the central nervous system. Onset is within the first 2 years of life with death by age 10 years. {ECO:0000269 PubMed:16783378, ECO:0000269 PubMed:17033970, ECO:0000269 PubMed:23749988}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Neurodegeneration with brain iron accumulation 2B (NBIA2B) [MIM:610217]: A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. It is characterized by progressive extrapyramidal dysfunction leading to rigidity, dystonia, dysarthria and sensorimotor impairment. {ECO:0000269 PubMed:16783378}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Parkinson disease 14 (PARK14) [MIM:612953]: An adult-onset progressive neurodegenerative disorder characterized by parkinsonism, dystonia, severe cognitive decline, cerebral and cerebellar atrophy and absent iron in the basal ganglia on magnetic resonance imaging. {ECO:0000269 PubMed:18570303}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PLA2G6

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PLA2G6: view

No data available for Genatlas for PLA2G6 Gene

Publications for PLA2G6 Gene

  1. Multiple splice variants of the human calcium-independent phospholipase A2 and their effect on enzyme activity. (PMID: 9417066) Larsson PK … Kennedy BP (The Journal of biological chemistry 1998) 2 3 4 22 58
  2. Mammalian patatin domain containing proteins: a family with diverse lipolytic activities involved in multiple biological functions. (PMID: 19029121) Kienesberger PC … Zechner R