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PNPLA3 (patatin like phospholipase domain containing 3)

Identity

Alias_namesC22orf20
ADPN
chromosome 22 open reading frame 20
adiponutrin
patatin-like phospholipase domain containing 3
Alias_symbol (synonym)dJ796I17.1
FLJ22012
adiponutrin
iPLA2epsilon
Other aliasiPLA(2)epsilon
HGNC (Hugo) PNPLA3
LocusID (NCBI) 80339
Atlas_Id 43085
Location 22q13.31  [Link to chromosome band 22q13]
Location_base_pair Starts at 44319619 and ends at 44343448 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

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)PNPLA3   18590
Cards
Entrez_Gene (NCBI)PNPLA3  80339  patatin like phospholipase domain containing 3
AliasesADPN; C22orf20; iPLA(2)epsilon
GeneCards (Weizmann)PNPLA3
Ensembl hg19 (Hinxton)ENSG00000100344 [Gene_View]  chr22:44319619-44343448 [Contig_View]  PNPLA3 [Vega]
Ensembl hg38 (Hinxton)ENSG00000100344 [Gene_View]  chr22:44319619-44343448 [Contig_View]  PNPLA3 [Vega]
ICGC DataPortalENSG00000100344
TCGA cBioPortalPNPLA3
AceView (NCBI)PNPLA3
Genatlas (Paris)PNPLA3
WikiGenes80339
SOURCE (Princeton)PNPLA3
Genetics Home Reference (NIH)PNPLA3
Genomic and cartography
GoldenPath hg19 (UCSC)PNPLA3  -     chr22:44319619-44343448 +  22q13.31   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PNPLA3  -     22q13.31   [Description]    (hg38-Dec_2013)
EnsemblPNPLA3 - 22q13.31 [CytoView hg19]  PNPLA3 - 22q13.31 [CytoView hg38]
Mapping of homologs : NCBIPNPLA3 [Mapview hg19]  PNPLA3 [Mapview hg38]
OMIM609567   
Gene and transcription
Genbank (Entrez)AK025665 AK123806 AK315166 AL138578 BC014449
RefSeq transcript (Entrez)NM_025225
RefSeq genomic (Entrez)NC_000022 NC_018933 NG_008631 NT_011520 NW_004929430
Consensus coding sequences : CCDS (NCBI)PNPLA3
Cluster EST : UnigeneHs.654800 [ NCBI ]
CGAP (NCI)Hs.654800
Alternative Splicing GalleryENSG00000100344
Gene ExpressionPNPLA3 [ NCBI-GEO ]   PNPLA3 [ EBI - ARRAY_EXPRESS ]   PNPLA3 [ SEEK ]   PNPLA3 [ MEM ]
Gene Expression Viewer (FireBrowse)PNPLA3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)80339
GTEX Portal (Tissue expression)PNPLA3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NST1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NST1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NST1
Splice isoforms : SwissVarQ9NST1
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 ]   
PhosPhoSitePlusQ9NST1
Domains : Interpro (EBI)Acyl_Trfase/lysoPLipase    Patatin/PLipase_A2-rel   
Domain families : Pfam (Sanger)Patatin (PF01734)   
Domain families : Pfam (NCBI)pfam01734   
Conserved Domain (NCBI)PNPLA3
DMDM Disease mutations80339
Blocks (Seattle)PNPLA3
SuperfamilyQ9NST1
Human Protein AtlasENSG00000100344
Peptide AtlasQ9NST1
HPRD12430
IPIIPI00019245   IPI00878819   IPI00925300   
Protein Interaction databases
DIP (DOE-UCLA)Q9NST1
IntAct (EBI)Q9NST1
FunCoupENSG00000100344
BioGRIDPNPLA3
STRING (EMBL)PNPLA3
ZODIACPNPLA3
Ontologies - Pathways
QuickGOQ9NST1
Ontology : AmiGOlipoprotein lipase activity  phospholipase A2 activity  triglyceride lipase activity  triglyceride lipase activity  endoplasmic reticulum membrane  membrane  integral component of membrane  acylglycerol O-acyltransferase activity  triglyceride biosynthetic process  triglyceride catabolic process  triglyceride catabolic process  triglyceride acyl-chain remodeling  acylglycerol acyl-chain remodeling  mono-olein transacylation activity  diolein transacylation activity  
Ontology : EGO-EBIlipoprotein lipase activity  phospholipase A2 activity  triglyceride lipase activity  triglyceride lipase activity  endoplasmic reticulum membrane  membrane  integral component of membrane  acylglycerol O-acyltransferase activity  triglyceride biosynthetic process  triglyceride catabolic process  triglyceride catabolic process  triglyceride acyl-chain remodeling  acylglycerol acyl-chain remodeling  mono-olein transacylation activity  diolein transacylation activity  
Pathways : KEGGGlycerolipid metabolism   
NDEx NetworkPNPLA3
Atlas of Cancer Signalling NetworkPNPLA3
Wikipedia pathwaysPNPLA3
Orthology - Evolution
OrthoDB80339
GeneTree (enSembl)ENSG00000100344
Phylogenetic Trees/Animal Genes : TreeFamPNPLA3
HOVERGENQ9NST1
HOGENOMQ9NST1
Homologs : HomoloGenePNPLA3
Homology/Alignments : Family Browser (UCSC)PNPLA3
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPNPLA3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PNPLA3
dbVarPNPLA3
ClinVarPNPLA3
1000_GenomesPNPLA3 
Exome Variant ServerPNPLA3
ExAC (Exome Aggregation Consortium)PNPLA3 (select the gene name)
Genetic variants : HAPMAP80339
Genomic Variants (DGV)PNPLA3 [DGVbeta]
DECIPHER (Syndromes)22:44319619-44343448  ENSG00000100344
CONAN: Copy Number AnalysisPNPLA3 
Mutations
ICGC Data PortalPNPLA3 
TCGA Data PortalPNPLA3 
Broad Tumor PortalPNPLA3
OASIS PortalPNPLA3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPNPLA3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPNPLA3
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 PNPLA3
DgiDB (Drug Gene Interaction Database)PNPLA3
DoCM (Curated mutations)PNPLA3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PNPLA3 (select a term)
intoGenPNPLA3
Cancer3DPNPLA3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609567   
Orphanet
MedgenPNPLA3
Genetic Testing Registry PNPLA3
NextProtQ9NST1 [Medical]
TSGene80339
GENETestsPNPLA3
Huge Navigator PNPLA3 [HugePedia]
snp3D : Map Gene to Disease80339
BioCentury BCIQPNPLA3
ClinGenPNPLA3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD80339
Chemical/Pharm GKB GenePA38592
Clinical trialPNPLA3
Miscellaneous
canSAR (ICR)PNPLA3 (select the gene name)
Probes
Litterature
PubMed174 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePNPLA3
EVEXPNPLA3
GoPubMedPNPLA3
iHOPPNPLA3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:22:03 CET 2017

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