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PNPLA2 (patatin like phospholipase domain containing 2)

Identity

Other names1110001C14Rik
ATGL
FP17548
PEDF-R
TTS-2.2
TTS2
iPLA2zeta
HGNC (Hugo) PNPLA2
LocusID (NCBI) 57104
Atlas_Id 52359
Location 11p15.5
Location_base_pair Starts at 818901 and ends at 825571 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
HM13 (20q11.21) / PNPLA2 (11p15.5)PNPLA2 (11p15.5) / CCDC162P (6q21)PNPLA2 (11p15.5) / GHITM (10q23.1)
PNPLA2 (11p15.5) / PNPLA2 (11p15.5)UNC119 (17q11.2) / PNPLA2 (11p15.5)

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)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
TCGA 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)NC_000011 NC_018922 NG_023394 NT_009237 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 [ EBI - ARRAY_EXPRESS ]   PNPLA2 [ SEEK ]   PNPLA2 [ MEM ]
Gene Expression Viewer (FireBrowse)PNPLA2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)57104
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96AD5 (Uniprot)
NextProtQ96AD5  [Sequence]  [Exons]  [Medical]  [Publications]
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 ]   
PhosPhoSitePlusQ96AD5
Domains : Interpro (EBI)Acyl_Trfase/lysoPLipase    Patatin/PLipase_A2-rel   
Domain families : Pfam (Sanger)Patatin (PF01734)   
Domain families : Pfam (NCBI)pfam01734   
DMDM Disease mutations57104
Blocks (Seattle)PNPLA2
SuperfamilyQ96AD5
Human Protein AtlasENSG00000177666
Peptide AtlasQ96AD5
HPRD11443
IPIIPI00550361   IPI00847143   
Protein Interaction databases
DIP (DOE-UCLA)Q96AD5
IntAct (EBI)Q96AD5
FunCoupENSG00000177666
BioGRIDPNPLA2
STRING (EMBL)PNPLA2
ZODIACPNPLA2
Ontologies - Pathways
QuickGOQ96AD5
Ontology : AmiGOlipoprotein lipase activity  triglyceride lipase activity  triglyceride lipase activity  endoplasmic reticulum membrane  lipid particle  cytosol  plasma membrane  negative regulation of sequestering of triglyceride  positive regulation of triglyceride catabolic process  integral component of membrane  acylglycerol O-acyltransferase activity  triglyceride catabolic process  lipid storage  lipid particle organization  acylglycerol acyl-chain remodeling  
Ontology : EGO-EBIlipoprotein lipase activity  triglyceride lipase activity  triglyceride lipase activity  endoplasmic reticulum membrane  lipid particle  cytosol  plasma membrane  negative regulation of sequestering of triglyceride  positive regulation of triglyceride catabolic process  integral component of membrane  acylglycerol O-acyltransferase activity  triglyceride catabolic process  lipid storage  lipid particle organization  acylglycerol acyl-chain remodeling  
Pathways : KEGGGlycerolipid metabolism   
NDEx Network
Atlas of Cancer Signalling NetworkPNPLA2
Wikipedia pathwaysPNPLA2
Orthology - Evolution
OrthoDB57104
GeneTree (enSembl)ENSG00000177666
Phylogenetic Trees/Animal Genes : TreeFamPNPLA2
Homologs : HomoloGenePNPLA2
Homology/Alignments : Family Browser (UCSC)PNPLA2
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerPNPLA2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PNPLA2
dbVarPNPLA2
ClinVarPNPLA2
1000_GenomesPNPLA2 
Exome Variant ServerPNPLA2
ExAC (Exome Aggregation Consortium)PNPLA2 (select the gene name)
SNP (GeneSNP Utah)PNPLA2
SNP : HGBasePNPLA2
Genetic variants : HAPMAPPNPLA2
Genomic Variants (DGV)PNPLA2 [DGVbeta]
Mutations
ICGC Data PortalPNPLA2 
TCGA Data PortalPNPLA2 
Broad Tumor PortalPNPLA2
OASIS PortalPNPLA2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPNPLA2 
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
BioMutasearch PNPLA2
DgiDB (Drug Gene Interaction Database)PNPLA2
DoCM (Curated mutations)PNPLA2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PNPLA2 (select a term)
intoGenPNPLA2
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)11:818901-825571
CONAN: Copy Number AnalysisPNPLA2 
Mutations and Diseases : HGMDPNPLA2
OMIM609059    610717   
MedgenPNPLA2
Genetic Testing Registry PNPLA2
NextProtQ96AD5 [Medical]
TSGene57104
GENETestsPNPLA2
Huge Navigator PNPLA2 [HugePedia]  PNPLA2 [HugeCancerGEM]
snp3D : Map Gene to Disease57104
BioCentury BCIQPNPLA2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57104
Chemical/Pharm GKB GenePA134903083
Clinical trialPNPLA2
Miscellaneous
canSAR (ICR)PNPLA2 (select the gene name)
Probes
Litterature
PubMed78 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePNPLA2
GoPubMedPNPLA2
iHOPPNPLA2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Apr 16 17:59:22 CEST 2016

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