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PNPLA6 (patatin like phospholipase domain containing 6)

Identity

Alias_namespatatin-like phospholipase domain containing 6
Alias_symbol (synonym)NTE
sws
iPLA2delta
SPG39
Other aliasBNHS
LNMS
NTEMND
OMCS
HGNC (Hugo) PNPLA6
LocusID (NCBI) 10908
Atlas_Id 56457
Location 19p13.2  [Link to chromosome band 19p13]
Location_base_pair Starts at 7534705 and ends at 7561767 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
KRT7 (12q13.13) / PNPLA6 (19p13.2)PNPLA6 (19p13.2) / ECSIT (19p13.2)PNPLA6 (19p13.2) / PNPLA6 (19p13.2)
SIGMAR1 (9p13.3) / PNPLA6 (19p13.2)

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)PNPLA6   16268
Cards
Entrez_Gene (NCBI)PNPLA6  10908  patatin like phospholipase domain containing 6
AliasesBNHS; LNMS; NTE; NTEMND; 
OMCS; SPG39; iPLA2delta; sws
GeneCards (Weizmann)PNPLA6
Ensembl hg19 (Hinxton)ENSG00000032444 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000032444 [Gene_View]  chr19:7534705-7561767 [Contig_View]  PNPLA6 [Vega]
ICGC DataPortalENSG00000032444
TCGA cBioPortalPNPLA6
AceView (NCBI)PNPLA6
Genatlas (Paris)PNPLA6
WikiGenes10908
SOURCE (Princeton)PNPLA6
Genetics Home Reference (NIH)PNPLA6
Genomic and cartography
GoldenPath hg38 (UCSC)PNPLA6  -     chr19:7534705-7561767 +  19p13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PNPLA6  -     19p13.2   [Description]    (hg19-Feb_2009)
EnsemblPNPLA6 - 19p13.2 [CytoView hg19]  PNPLA6 - 19p13.2 [CytoView hg38]
Mapping of homologs : NCBIPNPLA6 [Mapview hg19]  PNPLA6 [Mapview hg38]
OMIM215470   245800   275400   603197   612020   
Gene and transcription
Genbank (Entrez)AJ004832 AK293807 AK294021 AK302462 AL050362
RefSeq transcript (Entrez)NM_001166111 NM_001166112 NM_001166113 NM_001166114 NM_006702
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PNPLA6
Cluster EST : UnigeneHs.631863 [ NCBI ]
CGAP (NCI)Hs.631863
Alternative Splicing GalleryENSG00000032444
Gene ExpressionPNPLA6 [ NCBI-GEO ]   PNPLA6 [ EBI - ARRAY_EXPRESS ]   PNPLA6 [ SEEK ]   PNPLA6 [ MEM ]
Gene Expression Viewer (FireBrowse)PNPLA6 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10908
GTEX Portal (Tissue expression)PNPLA6
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IY17   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8IY17  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IY17
Splice isoforms : SwissVarQ8IY17
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 ]   
PhosPhoSitePlusQ8IY17
Domaine pattern : Prosite (Expaxy)CNMP_BINDING_3 (PS50042)    PNPLA (PS51635)    UPF0028 (PS01237)   
Domains : Interpro (EBI)Acyl_Trfase/lysoPLipase    cNMP-bd-like    cNMP-bd_dom    LysoPLipase_patatin_CS    Patatin/PLipase_A2-rel    RmlC-like_jellyroll   
Domain families : Pfam (Sanger)cNMP_binding (PF00027)    Patatin (PF01734)   
Domain families : Pfam (NCBI)pfam00027    pfam01734   
Domain families : Smart (EMBL)cNMP (SM00100)  
Conserved Domain (NCBI)PNPLA6
DMDM Disease mutations10908
Blocks (Seattle)PNPLA6
SuperfamilyQ8IY17
Human Protein AtlasENSG00000032444
Peptide AtlasQ8IY17
HPRD04432
IPIIPI00217600   IPI00940388   IPI01009433   IPI00640818   IPI00921822   
Protein Interaction databases
DIP (DOE-UCLA)Q8IY17
IntAct (EBI)Q8IY17
FunCoupENSG00000032444
BioGRIDPNPLA6
STRING (EMBL)PNPLA6
ZODIACPNPLA6
Ontologies - Pathways
QuickGOQ8IY17
Ontology : AmiGOangiogenesis  lysophospholipase activity  lysophospholipase activity  endoplasmic reticulum  endoplasmic reticulum membrane  animal organ morphogenesis  membrane  integral component of membrane  developmental process  phosphatidylcholine metabolic process  glycerophospholipid catabolic process  
Ontology : EGO-EBIangiogenesis  lysophospholipase activity  lysophospholipase activity  endoplasmic reticulum  endoplasmic reticulum membrane  animal organ morphogenesis  membrane  integral component of membrane  developmental process  phosphatidylcholine metabolic process  glycerophospholipid catabolic process  
Pathways : KEGGGlycerophospholipid metabolism   
NDEx NetworkPNPLA6
Atlas of Cancer Signalling NetworkPNPLA6
Wikipedia pathwaysPNPLA6
Orthology - Evolution
OrthoDB10908
GeneTree (enSembl)ENSG00000032444
Phylogenetic Trees/Animal Genes : TreeFamPNPLA6
HOVERGENQ8IY17
HOGENOMQ8IY17
Homologs : HomoloGenePNPLA6
Homology/Alignments : Family Browser (UCSC)PNPLA6
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPNPLA6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PNPLA6
dbVarPNPLA6
ClinVarPNPLA6
1000_GenomesPNPLA6 
Exome Variant ServerPNPLA6
ExAC (Exome Aggregation Consortium)PNPLA6 (select the gene name)
Genetic variants : HAPMAP10908
Genomic Variants (DGV)PNPLA6 [DGVbeta]
DECIPHERPNPLA6 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPNPLA6 
Mutations
ICGC Data PortalPNPLA6 
TCGA Data PortalPNPLA6 
Broad Tumor PortalPNPLA6
OASIS PortalPNPLA6 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPNPLA6  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPNPLA6
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 PNPLA6
DgiDB (Drug Gene Interaction Database)PNPLA6
DoCM (Curated mutations)PNPLA6 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PNPLA6 (select a term)
intoGenPNPLA6
Cancer3DPNPLA6(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM215470    245800    275400    603197    612020   
Orphanet531    1438    1437    16907    2981   
MedgenPNPLA6
Genetic Testing Registry PNPLA6
NextProtQ8IY17 [Medical]
TSGene10908
GENETestsPNPLA6
Target ValidationPNPLA6
Huge Navigator PNPLA6 [HugePedia]
snp3D : Map Gene to Disease10908
BioCentury BCIQPNPLA6
ClinGenPNPLA6
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10908
Chemical/Pharm GKB GenePA145148268
Clinical trialPNPLA6
Miscellaneous
canSAR (ICR)PNPLA6 (select the gene name)
Probes
Litterature
PubMed50 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePNPLA6
EVEXPNPLA6
GoPubMedPNPLA6
iHOPPNPLA6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:25:31 CEST 2017

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