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PAFAH2 (platelet activating factor acetylhydrolase 2)

Identity

Alias_namesplatelet-activating factor acetylhydrolase 2 (40kD)
platelet-activating factor acetylhydrolase 2, 40kDa
Alias_symbol (synonym)HSD-PLA2
Other alias
HGNC (Hugo) PAFAH2
LocusID (NCBI) 5051
Atlas_Id 71629
Location 1p36.11  [Link to chromosome band 1p36]
Location_base_pair Starts at 25959767 and ends at 25998157 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)
LINC01620 (20q13.12) / PAFAH2 (1p36.11)ROBO2 (3p12.3) / PAFAH2 (1p36.11)ZEB2 (2q22.3) / PAFAH2 (1p36.11)

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)PAFAH2   8579
Cards
Entrez_Gene (NCBI)PAFAH2  5051  platelet activating factor acetylhydrolase 2
AliasesHSD-PLA2
GeneCards (Weizmann)PAFAH2
Ensembl hg19 (Hinxton)ENSG00000158006 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000158006 [Gene_View]  ENSG00000158006 [Sequence]  chr1:25959767-25998157 [Contig_View]  PAFAH2 [Vega]
ICGC DataPortalENSG00000158006
TCGA cBioPortalPAFAH2
AceView (NCBI)PAFAH2
Genatlas (Paris)PAFAH2
WikiGenes5051
SOURCE (Princeton)PAFAH2
Genetics Home Reference (NIH)PAFAH2
Genomic and cartography
GoldenPath hg38 (UCSC)PAFAH2  -     chr1:25959767-25998157 -  1p36.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PAFAH2  -     1p36.11   [Description]    (hg19-Feb_2009)
GoldenPathPAFAH2 - 1p36.11 [CytoView hg19]  PAFAH2 - 1p36.11 [CytoView hg38]
ImmunoBaseENSG00000158006
Mapping of homologs : NCBIPAFAH2 [Mapview hg19]  PAFAH2 [Mapview hg38]
OMIM602344   
Gene and transcription
Genbank (Entrez)AK313815 BC001158 BU630496 D87845 U89386
RefSeq transcript (Entrez)NM_000437
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PAFAH2
Alternative Splicing GalleryENSG00000158006
Gene ExpressionPAFAH2 [ NCBI-GEO ]   PAFAH2 [ EBI - ARRAY_EXPRESS ]   PAFAH2 [ SEEK ]   PAFAH2 [ MEM ]
Gene Expression Viewer (FireBrowse)PAFAH2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5051
GTEX Portal (Tissue expression)PAFAH2
Human Protein AtlasENSG00000158006-PAFAH2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99487   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ99487  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ99487
Splice isoforms : SwissVarQ99487
PhosPhoSitePlusQ99487
Domaine pattern : Prosite (Expaxy)LIPASE_SER (PS00120)   
Domains : Interpro (EBI)AB_hydrolase    PAF_acetylhydro-like    PAF_acetylhydro_eukaryote   
Domain families : Pfam (Sanger)PAF-AH_p_II (PF03403)   
Domain families : Pfam (NCBI)pfam03403   
Conserved Domain (NCBI)PAFAH2
DMDM Disease mutations5051
Blocks (Seattle)PAFAH2
SuperfamilyQ99487
Human Protein Atlas [tissue]ENSG00000158006-PAFAH2 [tissue]
Peptide AtlasQ99487
HPRD03824
IPIIPI00015388   IPI00641128   IPI00642198   
Protein Interaction databases
DIP (DOE-UCLA)Q99487
IntAct (EBI)Q99487
FunCoupENSG00000158006
BioGRIDPAFAH2
STRING (EMBL)PAFAH2
ZODIACPAFAH2
Ontologies - Pathways
QuickGOQ99487
Ontology : AmiGO1-alkyl-2-acetylglycerophosphocholine esterase activity  1-alkyl-2-acetylglycerophosphocholine esterase activity  phospholipid binding  endoplasmic reticulum membrane  lipid metabolic process  blood coagulation  lipid catabolic process  negative regulation of apoptotic process  
Ontology : EGO-EBI1-alkyl-2-acetylglycerophosphocholine esterase activity  1-alkyl-2-acetylglycerophosphocholine esterase activity  phospholipid binding  endoplasmic reticulum membrane  lipid metabolic process  blood coagulation  lipid catabolic process  negative regulation of apoptotic process  
Pathways : KEGGGlycerophospholipid metabolism   
NDEx NetworkPAFAH2
Atlas of Cancer Signalling NetworkPAFAH2
Wikipedia pathwaysPAFAH2
Orthology - Evolution
OrthoDB5051
GeneTree (enSembl)ENSG00000158006
Phylogenetic Trees/Animal Genes : TreeFamPAFAH2
HOGENOMQ99487
Homologs : HomoloGenePAFAH2
Homology/Alignments : Family Browser (UCSC)PAFAH2
Gene fusions - Rearrangements
Fusion : QuiverPAFAH2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPAFAH2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PAFAH2
dbVarPAFAH2
ClinVarPAFAH2
1000_GenomesPAFAH2 
Exome Variant ServerPAFAH2
ExAC (Exome Aggregation Consortium)ENSG00000158006
GNOMAD BrowserENSG00000158006
Varsome BrowserPAFAH2
Genetic variants : HAPMAP5051
Genomic Variants (DGV)PAFAH2 [DGVbeta]
DECIPHERPAFAH2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPAFAH2 
Mutations
ICGC Data PortalPAFAH2 
TCGA Data PortalPAFAH2 
Broad Tumor PortalPAFAH2
OASIS PortalPAFAH2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPAFAH2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPAFAH2
Mutations and Diseases : HGMDPAFAH2
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 PAFAH2
DgiDB (Drug Gene Interaction Database)PAFAH2
DoCM (Curated mutations)PAFAH2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PAFAH2 (select a term)
intoGenPAFAH2
Cancer3DPAFAH2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602344   
Orphanet
DisGeNETPAFAH2
MedgenPAFAH2
Genetic Testing Registry PAFAH2
NextProtQ99487 [Medical]
TSGene5051
GENETestsPAFAH2
Target ValidationPAFAH2
Huge Navigator PAFAH2 [HugePedia]
snp3D : Map Gene to Disease5051
BioCentury BCIQPAFAH2
ClinGenPAFAH2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5051
Chemical/Pharm GKB GenePA32910
Clinical trialPAFAH2
Miscellaneous
canSAR (ICR)PAFAH2 (select the gene name)
HarmonizomePAFAH2
DataMed IndexPAFAH2
Probes
Litterature
PubMed14 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePAFAH2
EVEXPAFAH2
GoPubMedPAFAH2
iHOPPAFAH2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Mar 11 20:22:53 CET 2020
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