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PNPLA5 (patatin-like phospholipase domain containing 5)

Identity

Alias_namespatatin-like phospholipase domain containing 5
Alias_symbol (synonym)dJ388M5.4
GS2L
Other aliasdJ388M5
HGNC (Hugo) PNPLA5
LocusID (NCBI) 150379
Atlas_Id 72031
Location 22q13.31  [Link to chromosome band 22q13]
Location_base_pair Starts at 44275558 and ends at 44287893 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)PNPLA5   24888
Cards
Entrez_Gene (NCBI)PNPLA5  150379  patatin-like phospholipase domain containing 5
AliasesGS2L; dJ388M5; dJ388M5.4
GeneCards (Weizmann)PNPLA5
Ensembl hg19 (Hinxton)ENSG00000100341 [Gene_View]  chr22:44275558-44287893 [Contig_View]  PNPLA5 [Vega]
Ensembl hg38 (Hinxton)ENSG00000100341 [Gene_View]  chr22:44275558-44287893 [Contig_View]  PNPLA5 [Vega]
ICGC DataPortalENSG00000100341
TCGA cBioPortalPNPLA5
AceView (NCBI)PNPLA5
Genatlas (Paris)PNPLA5
WikiGenes150379
SOURCE (Princeton)PNPLA5
Genetics Home Reference (NIH)PNPLA5
Genomic and cartography
GoldenPath hg19 (UCSC)PNPLA5  -     chr22:44275558-44287893 -  22q13.31   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PNPLA5  -     22q13.31   [Description]    (hg38-Dec_2013)
EnsemblPNPLA5 - 22q13.31 [CytoView hg19]  PNPLA5 - 22q13.31 [CytoView hg38]
Mapping of homologs : NCBIPNPLA5 [Mapview hg19]  PNPLA5 [Mapview hg38]
OMIM611589   
Gene and transcription
Genbank (Entrez)AK056648 AK127172 BC031820 BC104839 BC104843
RefSeq transcript (Entrez)NM_001177675 NM_138814
RefSeq genomic (Entrez)NC_000022 NC_018933 NT_011520 NW_004929430
Consensus coding sequences : CCDS (NCBI)PNPLA5
Cluster EST : UnigeneHs.248086 [ NCBI ]
CGAP (NCI)Hs.248086
Alternative Splicing GalleryENSG00000100341
Gene ExpressionPNPLA5 [ NCBI-GEO ]   PNPLA5 [ EBI - ARRAY_EXPRESS ]   PNPLA5 [ SEEK ]   PNPLA5 [ MEM ]
Gene Expression Viewer (FireBrowse)PNPLA5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)150379
GTEX Portal (Tissue expression)PNPLA5
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7Z6Z6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ7Z6Z6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ7Z6Z6
Splice isoforms : SwissVarQ7Z6Z6
Catalytic activity : Enzyme3.1.1.- [ Enzyme-Expasy ]   3.1.1.-3.1.1.- [ IntEnz-EBI ]   3.1.1.- [ BRENDA ]   3.1.1.- [ KEGG ]   
PhosPhoSitePlusQ7Z6Z6
Domains : Interpro (EBI)Acyl_Trfase/lysoPLipase    Patatin/PLipase_A2-rel   
Domain families : Pfam (Sanger)Patatin (PF01734)   
Domain families : Pfam (NCBI)pfam01734   
Conserved Domain (NCBI)PNPLA5
DMDM Disease mutations150379
Blocks (Seattle)PNPLA5
SuperfamilyQ7Z6Z6
Human Protein AtlasENSG00000100341
Peptide AtlasQ7Z6Z6
HPRD17870
IPIIPI00006356   IPI00444698   IPI00879219   
Protein Interaction databases
DIP (DOE-UCLA)Q7Z6Z6
IntAct (EBI)Q7Z6Z6
FunCoupENSG00000100341
BioGRIDPNPLA5
STRING (EMBL)PNPLA5
ZODIACPNPLA5
Ontologies - Pathways
QuickGOQ7Z6Z6
Ontology : AmiGOlipid catabolic process  hydrolase activity  
Ontology : EGO-EBIlipid catabolic process  hydrolase activity  
NDEx NetworkPNPLA5
Atlas of Cancer Signalling NetworkPNPLA5
Wikipedia pathwaysPNPLA5
Orthology - Evolution
OrthoDB150379
GeneTree (enSembl)ENSG00000100341
Phylogenetic Trees/Animal Genes : TreeFamPNPLA5
HOVERGENQ7Z6Z6
HOGENOMQ7Z6Z6
Homologs : HomoloGenePNPLA5
Homology/Alignments : Family Browser (UCSC)PNPLA5
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPNPLA5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PNPLA5
dbVarPNPLA5
ClinVarPNPLA5
1000_GenomesPNPLA5 
Exome Variant ServerPNPLA5
ExAC (Exome Aggregation Consortium)PNPLA5 (select the gene name)
Genetic variants : HAPMAP150379
Genomic Variants (DGV)PNPLA5 [DGVbeta]
DECIPHER (Syndromes)22:44275558-44287893  ENSG00000100341
CONAN: Copy Number AnalysisPNPLA5 
Mutations
ICGC Data PortalPNPLA5 
TCGA Data PortalPNPLA5 
Broad Tumor PortalPNPLA5
OASIS PortalPNPLA5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPNPLA5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPNPLA5
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
BioMutasearch PNPLA5
DgiDB (Drug Gene Interaction Database)PNPLA5
DoCM (Curated mutations)PNPLA5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PNPLA5 (select a term)
intoGenPNPLA5
Cancer3DPNPLA5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611589   
Orphanet
MedgenPNPLA5
Genetic Testing Registry PNPLA5
NextProtQ7Z6Z6 [Medical]
TSGene150379
GENETestsPNPLA5
Huge Navigator PNPLA5 [HugePedia]
snp3D : Map Gene to Disease150379
BioCentury BCIQPNPLA5
ClinGenPNPLA5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD150379
Chemical/Pharm GKB GenePA134869344
Clinical trialPNPLA5
Miscellaneous
canSAR (ICR)PNPLA5 (select the gene name)
Probes
Litterature
PubMed8 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePNPLA5
EVEXPNPLA5
GoPubMedPNPLA5
iHOPPNPLA5
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 12:39:04 CET 2017

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