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PNPLA4 (patatin like phospholipase domain containing 4)

Identity

Alias_namespatatin-like phospholipase domain containing 4
Alias_symbol (synonym)DXS1283E
GS2
iPLA2eta
Other alias
HGNC (Hugo) PNPLA4
LocusID (NCBI) 8228
Atlas_Id 72030
Location Xp22.31  [Link to chromosome band Xp22]
Location_base_pair Starts at 7898763 and ends at 7927739 bp from pter ( according to hg38-Dec_2013)

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)PNPLA4   24887
Cards
Entrez_Gene (NCBI)PNPLA4  8228  patatin like phospholipase domain containing 4
AliasesDXS1283E; GS2; iPLA2eta
GeneCards (Weizmann)PNPLA4
Ensembl hg19 (Hinxton)ENSG00000006757 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000006757 [Gene_View]  chrX:7898763-7927739 [Contig_View]  PNPLA4 [Vega]
ICGC DataPortalENSG00000006757
TCGA cBioPortalPNPLA4
AceView (NCBI)PNPLA4
Genatlas (Paris)PNPLA4
WikiGenes8228
SOURCE (Princeton)PNPLA4
Genetics Home Reference (NIH)PNPLA4
Genomic and cartography
GoldenPath hg38 (UCSC)PNPLA4  -     chrX:7898763-7927739 -  Xp22.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PNPLA4  -     Xp22.31   [Description]    (hg19-Feb_2009)
EnsemblPNPLA4 - Xp22.31 [CytoView hg19]  PNPLA4 - Xp22.31 [CytoView hg38]
Mapping of homologs : NCBIPNPLA4 [Mapview hg19]  PNPLA4 [Mapview hg38]
OMIM300102   
Gene and transcription
Genbank (Entrez)AK289888 AK304586 BC020746 BM850121 DB468796
RefSeq transcript (Entrez)NM_001142389 NM_001172672 NM_004650
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PNPLA4
Cluster EST : UnigeneHs.264 [ NCBI ]
CGAP (NCI)Hs.264
Alternative Splicing GalleryENSG00000006757
Gene ExpressionPNPLA4 [ NCBI-GEO ]   PNPLA4 [ EBI - ARRAY_EXPRESS ]   PNPLA4 [ SEEK ]   PNPLA4 [ MEM ]
Gene Expression Viewer (FireBrowse)PNPLA4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8228
GTEX Portal (Tissue expression)PNPLA4
Protein : pattern, domain, 3D structure
UniProt/SwissProtP41247   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP41247  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP41247
Splice isoforms : SwissVarP41247
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 ]   
PhosPhoSitePlusP41247
Domaine pattern : Prosite (Expaxy)PNPLA (PS51635)   
Domains : Interpro (EBI)Acyl_Trfase/lysoPLipase    Patatin/PLipase_A2-rel    PLPL    PNPLA4   
Domain families : Pfam (Sanger)Patatin (PF01734)   
Domain families : Pfam (NCBI)pfam01734   
Conserved Domain (NCBI)PNPLA4
DMDM Disease mutations8228
Blocks (Seattle)PNPLA4
SuperfamilyP41247
Human Protein AtlasENSG00000006757
Peptide AtlasP41247
HPRD02112
IPIIPI00013218   IPI00956229   IPI00644150   
Protein Interaction databases
DIP (DOE-UCLA)P41247
IntAct (EBI)P41247
FunCoupENSG00000006757
BioGRIDPNPLA4
STRING (EMBL)PNPLA4
ZODIACPNPLA4
Ontologies - Pathways
QuickGOP41247
Ontology : AmiGOmolecular_function  triglyceride lipase activity  triglyceride lipase activity  cellular_component  mitochondrion  lipid particle  cytosol  biological_process  membrane  triglyceride catabolic process  retinol metabolic process  cellular lipid metabolic process  retinyl-palmitate esterase activity  lipid homeostasis  
Ontology : EGO-EBImolecular_function  triglyceride lipase activity  triglyceride lipase activity  cellular_component  mitochondrion  lipid particle  cytosol  biological_process  membrane  triglyceride catabolic process  retinol metabolic process  cellular lipid metabolic process  retinyl-palmitate esterase activity  lipid homeostasis  
Pathways : KEGGRetinol metabolism   
NDEx NetworkPNPLA4
Atlas of Cancer Signalling NetworkPNPLA4
Wikipedia pathwaysPNPLA4
Orthology - Evolution
OrthoDB8228
GeneTree (enSembl)ENSG00000006757
Phylogenetic Trees/Animal Genes : TreeFamPNPLA4
HOVERGENP41247
HOGENOMP41247
Homologs : HomoloGenePNPLA4
Homology/Alignments : Family Browser (UCSC)PNPLA4
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPNPLA4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PNPLA4
dbVarPNPLA4
ClinVarPNPLA4
1000_GenomesPNPLA4 
Exome Variant ServerPNPLA4
ExAC (Exome Aggregation Consortium)PNPLA4 (select the gene name)
Genetic variants : HAPMAP8228
Genomic Variants (DGV)PNPLA4 [DGVbeta]
DECIPHERPNPLA4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPNPLA4 
Mutations
ICGC Data PortalPNPLA4 
TCGA Data PortalPNPLA4 
Broad Tumor PortalPNPLA4
OASIS PortalPNPLA4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPNPLA4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPNPLA4
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)X-chromosome gene database
BioMutasearch PNPLA4
DgiDB (Drug Gene Interaction Database)PNPLA4
DoCM (Curated mutations)PNPLA4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PNPLA4 (select a term)
intoGenPNPLA4
Cancer3DPNPLA4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300102   
Orphanet
MedgenPNPLA4
Genetic Testing Registry PNPLA4
NextProtP41247 [Medical]
TSGene8228
GENETestsPNPLA4
Huge Navigator PNPLA4 [HugePedia]
snp3D : Map Gene to Disease8228
BioCentury BCIQPNPLA4
ClinGenPNPLA4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8228
Chemical/Pharm GKB GenePA134910531
Clinical trialPNPLA4
Miscellaneous
canSAR (ICR)PNPLA4 (select the gene name)
Probes
Litterature
PubMed17 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePNPLA4
EVEXPNPLA4
GoPubMedPNPLA4
iHOPPNPLA4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 11:49:02 CEST 2017

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