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PNPLA2 (patatin-like phospholipase domain containing 2)

Identity

Other names1110001C14Rik
ATGL
PEDF-R
TTS-2.2
TTS2
iPLA2zeta
HGNC (Hugo) PNPLA2
LocusID (NCBI) 57104
Location 11p15.5
Location_base_pair Starts at 818901 and ends at 825571 bp from pter ( according to hg19-Feb_2009)
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

External links

Nomenclature
HGNC (Hugo)PNPLA2   30802
Cards
Entrez_Gene (NCBI)PNPLA2  57104  patatin-like phospholipase domain containing 2
GeneCards (Weizmann)PNPLA2
Ensembl hg19 (Hinxton)ENSG00000177666 [Gene_View]  chr11:818901-825571 [Contig_View]  PNPLA2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000177666 [Gene_View]  chr11:818901-825571 [Contig_View]  PNPLA2 [Vega]
ICGC DataPortalENSG00000177666
cBioPortalPNPLA2
AceView (NCBI)PNPLA2
Genatlas (Paris)PNPLA2
WikiGenes57104
SOURCE (Princeton)PNPLA2
Genomic and cartography
GoldenPath hg19 (UCSC)PNPLA2  -     chr11:818901-825571 +  11p15.5   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PNPLA2  -     11p15.5   [Description]    (hg38-Dec_2013)
EnsemblPNPLA2 - 11p15.5 [CytoView hg19]  PNPLA2 - 11p15.5 [CytoView hg38]
Mapping of homologs : NCBIPNPLA2 [Mapview hg19]  PNPLA2 [Mapview hg38]
OMIM609059   610717   
Gene and transcription
Genbank (Entrez)AF055000 AJ278475 AJ278476 AK308435 AL833707
RefSeq transcript (Entrez)NM_020376
RefSeq genomic (Entrez)AC_000143 NC_000011 NC_018922 NG_023394 NT_009237 NW_001838016 NW_001842195 NW_004929378
Consensus coding sequences : CCDS (NCBI)PNPLA2
Cluster EST : UnigeneHs.654697 [ NCBI ]
CGAP (NCI)Hs.654697
Alternative Splicing : Fast-db (Paris)GSHG0004511
Alternative Splicing GalleryENSG00000177666
Gene ExpressionPNPLA2 [ NCBI-GEO ]     PNPLA2 [ SEEK ]   PNPLA2 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96AD5 (Uniprot)
NextProtQ96AD5  [Medical]
With graphics : InterProQ96AD5
Splice isoforms : SwissVarQ96AD5 (Swissvar)
Catalytic activity : Enzyme3.1.1.3 [ Enzyme-Expasy ]   3.1.1.33.1.1.3 [ IntEnz-EBI ]   3.1.1.3 [ BRENDA ]   3.1.1.3 [ KEGG ]   
Domains : Interpro (EBI)Acyl_Trfase/lysoPLipase    Patatin/PLipase_A2-rel   
Related proteins : CluSTrQ96AD5
Domain families : Pfam (Sanger)Patatin (PF01734)   
Domain families : Pfam (NCBI)pfam01734   
DMDM Disease mutations57104
Blocks (Seattle)Q96AD5
Human Protein AtlasENSG00000177666
Peptide AtlasQ96AD5
HPRD11443
IPIIPI00550361   IPI00847143   
Protein Interaction databases
DIP (DOE-UCLA)Q96AD5
IntAct (EBI)Q96AD5
FunCoupENSG00000177666
BioGRIDPNPLA2
IntegromeDBPNPLA2
STRING (EMBL)PNPLA2
Ontologies - Pathways
QuickGOQ96AD5
Ontology : AmiGOtriglyceride lipase activity  endoplasmic reticulum membrane  lipid particle  cytosol  plasma membrane  phospholipid metabolic process  negative regulation of sequestering of triglyceride  positive regulation of triglyceride catabolic process  integral component of membrane  triglyceride catabolic process  acylglycerol acyl-chain remodeling  intracellular membrane-bounded organelle  small molecule metabolic process  glycerophospholipid biosynthetic process  
Ontology : EGO-EBItriglyceride lipase activity  endoplasmic reticulum membrane  lipid particle  cytosol  plasma membrane  phospholipid metabolic process  negative regulation of sequestering of triglyceride  positive regulation of triglyceride catabolic process  integral component of membrane  triglyceride catabolic process  acylglycerol acyl-chain remodeling  intracellular membrane-bounded organelle  small molecule metabolic process  glycerophospholipid biosynthetic process  
Pathways : KEGGGlycerolipid metabolism   
Protein Interaction DatabasePNPLA2
DoCM (Curated mutations)PNPLA2
Wikipedia pathwaysPNPLA2
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerPNPLA2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PNPLA2
dbVarPNPLA2
ClinVarPNPLA2
1000_GenomesPNPLA2 
Exome Variant ServerPNPLA2
SNP (GeneSNP Utah)PNPLA2
SNP : HGBasePNPLA2
Genetic variants : HAPMAPPNPLA2
Genomic VariantsPNPLA2  PNPLA2 [DGVbeta]
Mutations
ICGC Data PortalENSG00000177666 
Somatic Mutations in Cancer : COSMICPNPLA2 
CONAN: Copy Number AnalysisPNPLA2 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)11:818901-825571
Mutations and Diseases : HGMDPNPLA2
OMIM609059    610717   
MedgenPNPLA2
NextProtQ96AD5 [Medical]
GENETestsPNPLA2
Disease Genetic AssociationPNPLA2
Huge Navigator PNPLA2 [HugePedia]  PNPLA2 [HugeCancerGEM]
snp3D : Map Gene to Disease57104
DGIdb (Drug Gene Interaction db)PNPLA2
General knowledge
Homologs : HomoloGenePNPLA2
Homology/Alignments : Family Browser (UCSC)PNPLA2
Phylogenetic Trees/Animal Genes : TreeFamPNPLA2
Chemical/Protein Interactions : CTD57104
Chemical/Pharm GKB GenePA134903083
Clinical trialPNPLA2
Cancer Resource (Charite)ENSG00000177666
Other databases
Probes
Litterature
PubMed72 Pubmed reference(s) in Entrez
CoreMinePNPLA2
GoPubMedPNPLA2
iHOPPNPLA2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun Dec 21 00:53:11 CET 2014

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