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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

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 Infantile Neuroaxonal Dystrophy 1. Among its related pathways are Linoleic acid metabolism and Vascular smooth muscle contraction. 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

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

Genomics for PLA2G6 Gene

Regulatory Elements for PLA2G6 Gene

Enhancers for PLA2G6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22G038171 1.8 FANTOM5 Ensembl ENCODE dbSUPER 24.5 +32.8 32840 2.6 PKNOX1 ARID4B E2F7 YY1 GATA2 KLF7 FOS SP5 KAT8 ZNF592 MAFF PLA2G6 BAIAP2L2 TMEM184B GCAT GC22P038194 ENSG00000279080
GH22G038147 1.3 FANTOM5 Ensembl ENCODE 24.9 +57.6 57648 1.5 JUN ZMYM3 MAX RAD21 YY1 EED FOS ETV6 JUND PRDM6 PLA2G6 TMEM184B MAFF BAIAP2L2 DDX17 ENSG00000279080 GC22P038194
GH22G038174 1.8 FANTOM5 ENCODE dbSUPER 15.2 +26.9 26882 8.7 MLX CREB3L1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF263 SP3 MCM3 MAFF TMEM184B PLA2G6 ENSG00000230149 CBX6 ENSG00000273076 NPTXR ENSG00000272669 ENSG00000225450 APOBEC3D
GH22G038144 1 Ensembl ENCODE 25.1 +59.9 59946 1.7 ZNF362 MCM3 ZSCAN4 TEAD4 ZNF394 ZNF662 ZNF398 ATF2 TEAD3 FOSL1 PLA2G6 BAIAP2L2 MAFF ENSG00000228274 TMEM184B ANKRD54 ENSG00000279080 GC22P038194
GH22G038142 0.9 ENCODE 27.1 +62.3 62264 2.1 HDAC1 PKNOX1 ATF1 TBL1XR1 RAD21 TCF12 ZNF766 GATA2 CREM SMARCA5 PLA2G6 MAFF BAIAP2L2 TMEM184B ENSG00000279080 GC22P038194
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PLA2G6 on UCSC Golden Path with GeneCards custom track

Genomic Location for PLA2G6 Gene

Chromosome:
22
Start:
38,111,495 bp from pter
End:
38,205,690 bp from pter
Size:
94,196 bases
Orientation:
Minus strand

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 StructureGene Density

RefSeq DNA sequence for PLA2G6 Gene

Proteins for PLA2G6 Gene

  • 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

Post-translational modifications for PLA2G6 Gene

  • Ubiquitination at Lys719
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PLA2G6 Gene

Domains & Families for PLA2G6 Gene

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

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

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:0019901 protein kinase binding IEA --
GO:0043008 ATP-dependent protein 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

CRISPR Products

Inhibitory RNA 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

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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Quinacrine Approved Pharma Target, inhibitor 6
Water Approved Pharma 0
alpha-linolenic acid Approved Nutra Full agonist, Agonist 0
Stearic acid Experimental Pharma 0
arachidonic acid Experimental Nutra Activator 30

(97) Additional Compounds for PLA2G6 Gene - From: Novoseek, HMDB, 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
D609 Selective PC-PLC inhibitor 83373-60-8
m-3M3FBS Phospholipase C activator 200933-14-8
U 73343 Analog of U 73122 (Cat. No. 1268) 142878-12-4
VU 0155069 Potent and selective PLD1 inhibitor 1130067-06-9
VU 0364739 hydrochloride Potent and selective PLD2 inhibitor 1244640-48-9

(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

Unigene Clusters for PLA2G6 Gene

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

CRISPR Products

Inhibitory RNA 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

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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
Organs:
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

Primer Products

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 35
  • 99.55 (n)
dog
(Canis familiaris)
Mammalia PLA2G6 34 35
  • 89.87 (n)
cow
(Bos Taurus)
Mammalia PLA2G6 34 35
  • 88.82 (n)
mouse
(Mus musculus)
Mammalia Pla2g6 34 16 35
  • 87.06 (n)
rat
(Rattus norvegicus)
Mammalia Pla2g6 34
  • 86.48 (n)
oppossum
(Monodelphis domestica)
Mammalia PLA2G6 35
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PLA2G6 35
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves PLA2G6 34 35
  • 69.7 (n)
lizard
(Anolis carolinensis)
Reptilia PLA2G6 35
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pla2g6 34
  • 59.95 (n)
zebrafish
(Danio rerio)
Actinopterygii pla2g6 34 35
  • 59.35 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1493 34
fruit fly
(Drosophila melanogaster)
Insecta CG6718 36
  • 51 (a)
iPLA2-VIA 34 35
  • 49.17 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004812 34
  • 46.96 (n)
worm
(Caenorhabditis elegans)
Secernentea F47A4.5 36 34 35
  • 42.09 (n)
D1037.5 36 35
  • 30 (a)
H23L24.2 36 35
  • 28 (a)
C45B2.6 36
  • 27 (a)
T04B2.5 35
  • 26 (a)
OneToMany
W07A8.2 35
  • 13 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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

Sequence variations from dbSNP and Humsavar for PLA2G6 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs121908681 Pathogenic, Neurodegeneration with brain iron accumulation 2B (NBIA2B) [MIM:610217] 38,120,867(-) CATGA(A/C/G)GGATG nc-transcript-variant, reference, missense
rs121908682 Pathogenic, Neurodegeneration with brain iron accumulation 2A (NBIA2A) [MIM:256600] 38,132,979(-) CAACG(A/T)GAACA nc-transcript-variant, reference, missense
rs121908683 Pathogenic, Neurodegeneration with brain iron accumulation 2B (NBIA2B) [MIM:610217] 38,115,667(-) TGTGG(C/T)GGGCG nc-transcript-variant, reference, missense
rs121908686 Pathogenic, Parkinson disease 14 (PARK14) [MIM:612953] 38,112,558(-) CGGGC(A/G)GGCTG nc-transcript-variant, upstream-variant-2KB, reference, missense
rs121908687 Pathogenic, Parkinson disease 14 (PARK14) [MIM:612953] 38,112,541(-) GGGCA(C/T)GGGCC nc-transcript-variant, upstream-variant-2KB, reference, missense

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)

Relevant External Links 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: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
parkinson disease 14, autosomal recessive
  • autosomal recessive parkinson disease 14
infantile neuroaxonal dystrophy 1
  • neurodegeneration with brain iron accumulation 2b
neurodegeneration with brain iron accumulation 2b
  • nbia2b
pla2g6-related parkinson disease
  • dystonia-parkinsonism, adult-onset
neurodegeneration with brain iron accumulation
  • nbia
- 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.

Relevant External Links for PLA2G6

Genetic Association Database (GAD)
PLA2G6
Human Genome Epidemiology (HuGE) Navigator
PLA2G6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PLA2G6
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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 P.K.A. … Kennedy B.P. (J. Biol. Chem. 1998) 2 3 4 22 64
  2. Mammalian patatin domain containing proteins: a family with diverse lipolytic activities involved in multiple biological functions. (PMID: 19029121) Kienesberger P.C. … Zechner R. (J. Lipid Res. 2009) 2 3 4 64
  3. Human pancreatic islets express mRNA species encoding two distinct catalytically active isoforms of group VI phospholipase A2 (iPLA2) that arise from an exon-skipping mechanism of alternative splicing of the transcript from the iPLA2 gene on chromosome 22q13.1. (PMID: 10092647) Ma Z. … Turk J. (J. Biol. Chem. 1999) 3 4 22 64
  4. The human calcium-independent phospholipase A2 gene. Multiple enzymes with distinct properties from a single gene. (PMID: 10336645) Larsson Forsell P.K.A. … Claesson H.-E. (Eur. J. Biochem. 1999) 3 4 22 64
  5. Genome-wide association study identifies nidogen 1 (NID1) as a susceptibility locus to cutaneous nevi and melanoma risk. (PMID: 21478494) Nan H. … Han J. (Hum. Mol. Genet. 2011) 3 46 64

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