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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 (Hinxton)ENSG00000177666 [Gene_View]  chr11:818901-825571 [Contig_View]  PNPLA2 [Vega]
ICGC DataPortalENSG00000177666
cBioPortalPNPLA2
AceView (NCBI)PNPLA2
Genatlas (Paris)PNPLA2
WikiGenes57104
SOURCE (Princeton)NM_020376
Genomic and cartography
GoldenPath (UCSC)PNPLA2  -  11p15.5   chr11:818901-825571 +  11p15.5   [Description]    (hg19-Feb_2009)
EnsemblPNPLA2 - 11p15.5 [CytoView]
Mapping of homologs : NCBIPNPLA2 [Mapview]
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 ]
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 [organisation]   Patatin/PLipase_A2-rel [organisation]  
Related proteins : CluSTrQ96AD5
Domain families : Pfam (Sanger)Patatin (PF01734)   
Domain families : Pfam (NCBI)pfam01734   
DMDM Disease mutations57104
Blocks (Seattle)Q96AD5
Human Protein AtlasENSG00000177666 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ96AD5
HPRD11443
IPIIPI00550361   IPI00847143   
Protein Interaction databases
DIP (DOE-UCLA)Q96AD5
IntAct (EBI)Q96AD5
FunCoupENSG00000177666
BioGRIDPNPLA2
InParanoidQ96AD5
Interologous Interaction database Q96AD5
IntegromeDBPNPLA2
STRING (EMBL)PNPLA2
Ontologies - Pathways
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
Wikipedia pathwaysPNPLA2
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)PNPLA2
snp3D : Map Gene to Disease57104
SNP (GeneSNP Utah)PNPLA2
SNP : HGBasePNPLA2
Genetic variants : HAPMAPPNPLA2
Exome VariantPNPLA2
1000_GenomesPNPLA2 
ICGC programENSG00000177666 
Somatic Mutations in Cancer : COSMICPNPLA2 
CONAN: Copy Number AnalysisPNPLA2 
Mutations and Diseases : HGMDPNPLA2
Genomic VariantsPNPLA2  PNPLA2 [DGVbeta]
dbVarPNPLA2
ClinVarPNPLA2
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM609059    610717   
MedgenPNPLA2
GENETestsPNPLA2
Disease Genetic AssociationPNPLA2
Huge Navigator PNPLA2 [HugePedia]  PNPLA2 [HugeCancerGEM]
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
iHOPPNPLA2
OncoSearchPNPLA2
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
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jul 30 14:10:27 CEST 2014

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