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PNPLA8 (patatin like phospholipase domain containing 8)

Identity

Alias_namespatatin-like phospholipase domain containing 8
Alias_symbol (synonym)IPLA2G
IPLA2-2
iPLA2gamma
Other aliasMMLA
PNPLA-gamma
HGNC (Hugo) PNPLA8
LocusID (NCBI) 50640
Atlas_Id 46036
Location 7q31.1  [Link to chromosome band 7q31]
Location_base_pair Starts at 108470422 and ends at 108526318 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
LIFR (5p13.1) / PNPLA8 (7q31.1)NRCAM (7q31.1) / PNPLA8 (7q31.1)LIFR 5p13.1 / PNPLA8 7q31.1

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

|/TR>TR?
Nomenclature
HGNC (Hugo)PNPLA8   28900
Cards
Entrez_Gene (NCBI)PNPLA8  50640  patatin like phospholipase domain containing 8
AliasesIPLA2-2; IPLA2G; MMLA; PNPLA-gamma; 
iPLA2gamma
GeneCards (Weizmann)PNPLA8
Ensembl hg19 (Hinxton)ENSG00000135241 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000135241 [Gene_View]  chr7:108470422-108526318 [Contig_View]  PNPLA8 [Vega]
ICGC DataPortalENSG00000135241
TCGA cBioPortalPNPLA8
AceView (NCBI)PNPLA8
Genatlas (Paris)PNPLA8
WikiGenes50640
SOURCE (Princeton)PNPLA8
Genetics Home Reference (NIH)PNPLA8
Genomic and cartography
GoldenPath hg38 (UCSC)PNPLA8  -     chr7:108470422-108526318 -  7q31.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PNPLA8  -     7q31.1   [Description]    (hg19-Feb_2009)
EnsemblPNPLA8 - 7q31.1 [CytoView hg19]  PNPLA8 - 7q31.1 [CytoView hg38]
Mapping of homologs : NCBIPNPLA8 [Mapview hg19]  PNPLA8 [Mapview hg38]
OMIM251950   612123   
Gene and transcription
Genbank (Entrez)AB041261 AF217519 AF263613 AF263947 AI742208
RefSeq transcript (Entrez)NM_001256007 NM_001256008 NM_001256009 NM_001256010 NM_001256011 NM_015723
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PNPLA8
Cluster EST : UnigeneHs.617340 [ NCBI ]
CGAP (NCI)Hs.617340
Alternative Splicing GalleryENSG00000135241
Gene ExpressionPNPLA8 [ NCBI-GEO ]   PNPLA8 [ EBI - ARRAY_EXPRESS ]   PNPLA8 [ SEEK ]   PNPLA8 [ MEM ]
Gene Expression Viewer (FireBrowse)PNPLA8 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)50640
GTEX Portal (Tissue expression)PNPLA8
Human Protein AtlasENSG00000135241-PNPLA8 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NP80   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NP80  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NP80
Splice isoforms : SwissVarQ9NP80
Catalytic activity : Enzyme3.1.1.5 [ Enzyme-Expasy ]   3.1.1.53.1.1.5 [ IntEnz-EBI ]   3.1.1.5 [ BRENDA ]   3.1.1.5 [ KEGG ]   
PhosPhoSitePlusQ9NP80
Domaine pattern : Prosite (Expaxy)PNPLA (PS51635)   
Domains : Interpro (EBI)Acyl_Trfase/lysoPLipase    Patatin/PLipase_A2-rel   
Domain families : Pfam (Sanger)Patatin (PF01734)   
Domain families : Pfam (NCBI)pfam01734   
Conserved Domain (NCBI)PNPLA8
DMDM Disease mutations50640
Blocks (Seattle)PNPLA8
SuperfamilyQ9NP80
Human Protein Atlas [tissue]ENSG00000135241-PNPLA8 [tissue]
Peptide AtlasQ9NP80
HPRD13741
IPIIPI00784076   IPI00181047   IPI00925582   IPI00924920   IPI00952690   IPI00925361   
Protein Interaction databases
DIP (DOE-UCLA)Q9NP80
IntAct (EBI)Q9NP80
FunCoupENSG00000135241
BioGRIDPNPLA8
STRING (EMBL)PNPLA8
ZODIACPNPLA8
Ontologies - Pathways
QuickGOQ9NP80
Ontology : AmiGOGolgi membrane  prostaglandin biosynthetic process  lysophospholipase activity  phospholipase A2 activity  ATP binding  intracellular  peroxisome  peroxisomal membrane  endoplasmic reticulum membrane  fatty acid metabolic process  cell death  membrane  integral component of membrane  arachidonic acid metabolic process  phosphatidylcholine catabolic process  phosphatidylcholine acyl-chain remodeling  phosphatidylethanolamine acyl-chain remodeling  linoleic acid metabolic process  phosphatidylethanolamine catabolic process  calcium-independent phospholipase A2 activity  perinuclear region of cytoplasm  arachidonic acid secretion  
Ontology : EGO-EBIGolgi membrane  prostaglandin biosynthetic process  lysophospholipase activity  phospholipase A2 activity  ATP binding  intracellular  peroxisome  peroxisomal membrane  endoplasmic reticulum membrane  fatty acid metabolic process  cell death  membrane  integral component of membrane  arachidonic acid metabolic process  phosphatidylcholine catabolic process  phosphatidylcholine acyl-chain remodeling  phosphatidylethanolamine acyl-chain remodeling  linoleic acid metabolic process  phosphatidylethanolamine catabolic process  calcium-independent phospholipase A2 activity  perinuclear region of cytoplasm  arachidonic acid secretion  
NDEx NetworkPNPLA8
Atlas of Cancer Signalling NetworkPNPLA8
Wikipedia pathwaysPNPLA8
Orthology - Evolution
OrthoDB50640
GeneTree (enSembl)ENSG00000135241
Phylogenetic Trees/Animal Genes : TreeFamPNPLA8
HOVERGENQ9NP80
HOGENOMQ9NP80
Homologs : HomoloGenePNPLA8
Homology/Alignments : Family Browser (UCSC)PNPLA8
Gene fusions - Rearrangements
Fusion : MitelmanLIFR/PNPLA8 [5p13.1/7q31.1]  [t(5;7)(p13;q31)]  
Fusion: TCGA_MDACCLIFR 5p13.1 PNPLA8 7q31.1 LGG
Tumor Fusion PortalPNPLA8
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPNPLA8 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PNPLA8
dbVarPNPLA8
ClinVarPNPLA8
1000_GenomesPNPLA8 
Exome Variant ServerPNPLA8
ExAC (Exome Aggregation Consortium)ENSG00000135241
GNOMAD BrowserENSG00000135241
Genetic variants : HAPMAP50640
Genomic Variants (DGV)PNPLA8 [DGVbeta]
DECIPHERPNPLA8 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPNPLA8 
Mutations
ICGC Data PortalPNPLA8 
TCGA Data PortalPNPLA8 
Broad Tumor PortalPNPLA8
OASIS PortalPNPLA8 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPNPLA8  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPNPLA8
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PNPLA8
DgiDB (Drug Gene Interaction Database)PNPLA8
DoCM (Curated mutations)PNPLA8 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PNPLA8 (select a term)
intoGenPNPLA8
Cancer3DPNPLA8(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM251950    612123   
Orphanet
DisGeNETPNPLA8
MedgenPNPLA8
Genetic Testing Registry PNPLA8
NextProtQ9NP80 [Medical]
TSGene50640
GENETestsPNPLA8
Target ValidationPNPLA8
Huge Navigator PNPLA8 [HugePedia]
snp3D : Map Gene to Disease50640
BioCentury BCIQPNPLA8
ClinGenPNPLA8
Clinical trials, drugs, therapyChemical/Protein Interactions : CTD50640
Chemical/Pharm GKB GenePA145148236
Clinical trialPNPLA8
Miscellaneous
canSAR (ICR)PNPLA8 (select the gene name)
Probes
Litterature
PubMed24 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePNPLA8
EVEXPNPLA8
GoPubMedPNPLA8
iHOPPNPLA8
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:29:26 CET 2017

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