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PLA2G6 (phospholipase A2 group VI)

Identity

Alias (NCBI)CaI-PLA2
GVI
INAD1
IPLA2-VIA
NBIA2
NBIA2A
NBIA2B
PARK14
PLA2
PNPLA9
iPLA2
iPLA2beta
HGNC (Hugo) PLA2G6
HGNC Alias symbiPLA2
PNPLA9
PARK14
iPLA2beta
NBIA2
HGNC Alias nameneurodegeneration with brain iron accumulation 2
HGNC Previous namephospholipase A2, group VI (cytosolic, calcium-independent)
LocusID (NCBI) 8398
Atlas_Id 45836
Location 22q13.1  [Link to chromosome band 22q13]
Location_base_pair Starts at 38111495 and ends at 38181830 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
BAIAP2L2 (22q13.1) / PLA2G6 (22q13.1)CLTCL1 (22q11.21) / PLA2G6 (22q13.1)MYO1D (17q11.2) / PLA2G6 (22q13.1)
PLA2G6 (22q13.1) / CLTCL1 (22q11.21)PLA2G6 (22q13.1) / MAP4 (3p21.31)PLA2G6 (22q13.1) / TMEM184B (22q13.1)
SYT7 (11q12.2) / PLA2G6 (22q13.1)BAIAP2L2 22q13.1 / PLA2G6 22q13.1MYO1D 17q11.2 / PLA2G6 22q13.1
PLA2G6 22q13.1 / TMEM184B 22q13.1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)PLA2G6   9039
LRG (Locus Reference Genomic)LRG_1015
Cards
Entrez_Gene (NCBI)PLA2G6    phospholipase A2 group VI
AliasesCaI-PLA2; GVI; INAD1; IPLA2-VIA; 
NBIA2; NBIA2A; NBIA2B; PARK14; PLA2; PNPLA9; iPLA2; iPLA2beta
GeneCards (Weizmann)PLA2G6
Ensembl hg19 (Hinxton)ENSG00000184381 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000184381 [Gene_View]  ENSG00000184381 [Sequence]  chr22:38111495-38181830 [Contig_View]  PLA2G6 [Vega]
ICGC DataPortalENSG00000184381
TCGA cBioPortalPLA2G6
AceView (NCBI)PLA2G6
Genatlas (Paris)PLA2G6
SOURCE (Princeton)PLA2G6
Genetics Home Reference (NIH)PLA2G6
Genomic and cartography
GoldenPath hg38 (UCSC)PLA2G6  -     chr22:38111495-38181830 -  22q13.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PLA2G6  -     22q13.1   [Description]    (hg19-Feb_2009)
GoldenPathPLA2G6 - 22q13.1 [CytoView hg19]  PLA2G6 - 22q13.1 [CytoView hg38]
ImmunoBaseENSG00000184381
Genome Data Viewer NCBIPLA2G6 [Mapview hg19]  
OMIM256600   603604   610217   612953   
Gene and transcription
Genbank (Entrez)AF064594 AF102988 AF102989 AK001290 AK096521
RefSeq transcript (Entrez)NM_001004426 NM_001199562 NM_001349864 NM_001349865 NM_001349866 NM_001349867 NM_001349868 NM_001349869 NM_003560
Consensus coding sequences : CCDS (NCBI)PLA2G6
Gene ExpressionPLA2G6 [ NCBI-GEO ]   PLA2G6 [ EBI - ARRAY_EXPRESS ]   PLA2G6 [ SEEK ]   PLA2G6 [ MEM ]
Gene Expression Viewer (FireBrowse)PLA2G6 [ Firebrowse - Broad ]
GenevisibleExpression of PLA2G6 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8398
GTEX Portal (Tissue expression)PLA2G6
Human Protein AtlasENSG00000184381-PLA2G6 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO60733   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO60733  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO60733
PhosPhoSitePlusO60733
Domaine pattern : Prosite (Expaxy)ANK_REP_REGION (PS50297)    ANK_REPEAT (PS50088)    PNPLA (PS51635)   
Domains : Interpro (EBI)Acyl_Trfase/lysoPLipase    Ankyrin_rpt    Ankyrin_rpt-contain_dom    Ankyrin_rpt-contain_sf    PNPLA_dom   
Domain families : Pfam (Sanger)Ank_2 (PF12796)    Patatin (PF01734)   
Domain families : Pfam (NCBI)pfam12796    pfam01734   
Domain families : Smart (EMBL)ANK (SM00248)  
Conserved Domain (NCBI)PLA2G6
SuperfamilyO60733
AlphaFold pdb e-kbO60733   
Human Protein Atlas [tissue]ENSG00000184381-PLA2G6 [tissue]
HPRD04675
Protein Interaction databases
DIP (DOE-UCLA)O60733
IntAct (EBI)O60733
BioGRIDPLA2G6
STRING (EMBL)PLA2G6
ZODIACPLA2G6
Ontologies - Pathways
QuickGOO60733
Ontology : AmiGOpositive regulation of protein phosphorylation  1-alkyl-2-acetylglycerophosphocholine esterase activity  lysophospholipase activity  phospholipase A2 activity  protein binding  calmodulin binding  extracellular space  mitochondrion  cytosol  cytosol  plasma membrane  chemotaxis  positive regulation of cytosolic calcium ion concentration  memory  urinary bladder smooth muscle contraction  integral component of membrane  palmitoyl-CoA hydrolase activity  palmitoyl-CoA hydrolase activity  serine hydrolase activity  antibacterial humoral response  protein kinase binding  pseudopodium  cardiolipin biosynthetic process  centriolar satellite  phosphatidylcholine catabolic process  response to endoplasmic reticulum stress  positive regulation of insulin secretion involved in cellular response to glucose stimulus  cardiolipin acyl-chain remodeling  cardiolipin acyl-chain remodeling  phosphatidylcholine acyl-chain remodeling  phosphatidylethanolamine acyl-chain remodeling  Fc-gamma receptor signaling pathway involved in phagocytosis  identical protein binding  ATP-dependent protein binding  positive regulation of exocytosis  phosphatidylethanolamine catabolic process  platelet activating factor metabolic process  phosphatidic acid metabolic process  calcium-independent phospholipase A2 activity  calcium-independent phospholipase A2 activity  negative regulation of synaptic transmission, glutamatergic  maternal process involved in female pregnancy  positive regulation of protein kinase C signaling  positive regulation of release of cytochrome c from mitochondria  positive regulation of arachidonic acid secretion  phosphatidyl phospholipase B activity  phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine)  phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine)  myristoyl-CoA hydrolase activity  regulation of store-operated calcium channel activity  positive regulation of ceramide biosynthetic process  
Ontology : EGO-EBIpositive regulation of protein phosphorylation  1-alkyl-2-acetylglycerophosphocholine esterase activity  lysophospholipase activity  phospholipase A2 activity  protein binding  calmodulin binding  extracellular space  mitochondrion  cytosol  cytosol  plasma membrane  chemotaxis  positive regulation of cytosolic calcium ion concentration  memory  urinary bladder smooth muscle contraction  integral component of membrane  palmitoyl-CoA hydrolase activity  palmitoyl-CoA hydrolase activity  serine hydrolase activity  antibacterial humoral response  protein kinase binding  pseudopodium  cardiolipin biosynthetic process  centriolar satellite  phosphatidylcholine catabolic process  response to endoplasmic reticulum stress  positive regulation of insulin secretion involved in cellular response to glucose stimulus  cardiolipin acyl-chain remodeling  cardiolipin acyl-chain remodeling  phosphatidylcholine acyl-chain remodeling  phosphatidylethanolamine acyl-chain remodeling  Fc-gamma receptor signaling pathway involved in phagocytosis  identical protein binding  ATP-dependent protein binding  positive regulation of exocytosis  phosphatidylethanolamine catabolic process  platelet activating factor metabolic process  phosphatidic acid metabolic process  calcium-independent phospholipase A2 activity  calcium-independent phospholipase A2 activity  negative regulation of synaptic transmission, glutamatergic  maternal process involved in female pregnancy  positive regulation of protein kinase C signaling  positive regulation of release of cytochrome c from mitochondria  positive regulation of arachidonic acid secretion  phosphatidyl phospholipase B activity  phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine)  phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine)  myristoyl-CoA hydrolase activity  regulation of store-operated calcium channel activity  positive regulation of ceramide biosynthetic process  
Pathways : KEGGGlycerophospholipid metabolism    Ether lipid metabolism    Arachidonic acid metabolism    Linoleic acid metabolism    alpha-Linolenic acid metabolism    Ras signaling pathway    Vascular smooth muscle contraction    Fc gamma R-mediated phagocytosis   
NDEx NetworkPLA2G6
Atlas of Cancer Signalling NetworkPLA2G6
Wikipedia pathwaysPLA2G6
Orthology - Evolution
OrthoDB8398
GeneTree (enSembl)ENSG00000184381
Phylogenetic Trees/Animal Genes : TreeFamPLA2G6
Homologs : HomoloGenePLA2G6
Homology/Alignments : Family Browser (UCSC)PLA2G6
Gene fusions - Rearrangements
Fusion : MitelmanBAIAP2L2/PLA2G6 [22q13.1/22q13.1]  
Fusion : MitelmanMYO1D/PLA2G6 [17q11.2/22q13.1]  
Fusion : MitelmanPLA2G6/TMEM184B [22q13.1/22q13.1]  
Fusion : QuiverPLA2G6
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPLA2G6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PLA2G6
dbVarPLA2G6
ClinVarPLA2G6
MonarchPLA2G6
1000_GenomesPLA2G6 
Exome Variant ServerPLA2G6
GNOMAD BrowserENSG00000184381
Varsome BrowserPLA2G6
ACMGPLA2G6 variants
VarityO60733
Genomic Variants (DGV)PLA2G6 [DGVbeta]
DECIPHERPLA2G6 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPLA2G6 
Mutations
ICGC Data PortalPLA2G6 
TCGA Data PortalPLA2G6 
Broad Tumor PortalPLA2G6
OASIS PortalPLA2G6 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPLA2G6  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPLA2G6
Mutations and Diseases : HGMDPLA2G6
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaPLA2G6
DgiDB (Drug Gene Interaction Database)PLA2G6
DoCM (Curated mutations)PLA2G6
CIViC (Clinical Interpretations of Variants in Cancer)PLA2G6
Cancer3DPLA2G6
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM256600    603604    610217    612953   
Orphanet18408    10365   
DisGeNETPLA2G6
MedgenPLA2G6
Genetic Testing Registry PLA2G6
NextProtO60733 [Medical]
GENETestsPLA2G6
Target ValidationPLA2G6
Huge Navigator PLA2G6 [HugePedia]
ClinGenPLA2G6
Clinical trials, drugs, therapy
MyCancerGenomePLA2G6
Protein Interactions : CTDPLA2G6
Pharm GKB GenePA33367
PharosO60733
Clinical trialPLA2G6
Miscellaneous
canSAR (ICR)PLA2G6
HarmonizomePLA2G6
DataMed IndexPLA2G6
Probes
Litterature
PubMed161 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPLA2G6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 4 15:25:33 CEST 2021

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