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PAFAH1B2 (platelet activating factor acetylhydrolase 1b catalytic subunit 2)

Identity

Alias_namesplatelet-activating factor acetylhydrolase, isoform Ib, beta subunit 30kDa
platelet-activating factor acetylhydrolase, isoform Ib, subunit 2 (30kDa)
platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa)
Other aliasHEL-S-303
HGNC (Hugo) PAFAH1B2
LocusID (NCBI) 5049
Atlas_Id 49979
Location 11q23.3  [Link to chromosome band 11q23]
Location_base_pair Starts at 117144284 and ends at 117176415 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)
CDC25A (3p21.31) / PAFAH1B2 (11q23.3)IGH (14q32.33) / PAFAH1B2 (11q23.3)IGHG1 (14q32.33) / PAFAH1B2 (11q23.3)
Ig () / PAFAH1B2 (11q23.3)LIN9 (1q42.12) / PAFAH1B2 (11q23.3)PAFAH1B2 (11q23.3) / ARID5A (2q11.2)
PAFAH1B2 (11q23.3) / CCDC84 (11q23.3)PAFAH1B2 (11q23.3) / FOXR1 (11q23.3)PAFAH1B2 (11q23.3) / GPR137 (11q13.1)
PAFAH1B2 (11q23.3) / IGH (14q32.33)PAFAH1B2 (11q23.3) / PAFAH1B2 (11q23.3)PAFAH1B2 (11q23.3) / USP28 (11q23.2)
PAFAH1B2 (11q23.3) / ZFAND5 (9q21.13)RNF214 (11q23.3) / PAFAH1B2 (11q23.3)TBCCD1 (3q27.3) / PAFAH1B2 (11q23.3)
TBL1X (Xp22.31) / PAFAH1B2 (11q23.3)PAFAH1B2 11q23.3 / GPR137 11q13.1RNF214 11q23.3 / PAFAH1B2 11q23.3

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)PAFAH1B2   8575
Cards
Entrez_Gene (NCBI)PAFAH1B2  5049  platelet activating factor acetylhydrolase 1b catalytic subunit 2
AliasesHEL-S-303
GeneCards (Weizmann)PAFAH1B2
Ensembl hg19 (Hinxton)ENSG00000168092 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000168092 [Gene_View]  chr11:117144284-117176415 [Contig_View]  PAFAH1B2 [Vega]
ICGC DataPortalENSG00000168092
TCGA cBioPortalPAFAH1B2
AceView (NCBI)PAFAH1B2
Genatlas (Paris)PAFAH1B2
WikiGenes5049
SOURCE (Princeton)PAFAH1B2
Genetics Home Reference (NIH)PAFAH1B2
Genomic and cartography
GoldenPath hg38 (UCSC)PAFAH1B2  -     chr11:117144284-117176415 +  11q23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PAFAH1B2  -     11q23.3   [Description]    (hg19-Feb_2009)
EnsemblPAFAH1B2 - 11q23.3 [CytoView hg19]  PAFAH1B2 - 11q23.3 [CytoView hg38]
Mapping of homologs : NCBIPAFAH1B2 [Mapview hg19]  PAFAH1B2 [Mapview hg38]
OMIM602508   
Gene and transcription
Genbank (Entrez)AK292973 AK307366 AW080651 BC000398 BC001774
RefSeq transcript (Entrez)NM_001184746 NM_001184747 NM_001184748 NM_001309431 NM_002572
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PAFAH1B2
Cluster EST : UnigeneHs.728488 [ NCBI ]
CGAP (NCI)Hs.728488
Alternative Splicing GalleryENSG00000168092
Gene ExpressionPAFAH1B2 [ NCBI-GEO ]   PAFAH1B2 [ EBI - ARRAY_EXPRESS ]   PAFAH1B2 [ SEEK ]   PAFAH1B2 [ MEM ]
Gene Expression Viewer (FireBrowse)PAFAH1B2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5049
GTEX Portal (Tissue expression)PAFAH1B2
Human Protein AtlasENSG00000168092-PAFAH1B2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP68402   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP68402  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP68402
Splice isoforms : SwissVarP68402
Catalytic activity : Enzyme3.1.1.47 [ Enzyme-Expasy ]   3.1.1.473.1.1.47 [ IntEnz-EBI ]   3.1.1.47 [ BRENDA ]   3.1.1.47 [ KEGG ]   
PhosPhoSitePlusP68402
Domains : Interpro (EBI)SGNH_hydro   
Domain families : Pfam (Sanger)Lipase_GDSL_2 (PF13472)   
Domain families : Pfam (NCBI)pfam13472   
Conserved Domain (NCBI)PAFAH1B2
DMDM Disease mutations5049
Blocks (Seattle)PAFAH1B2
PDB (SRS)1VYH   
PDB (PDBSum)1VYH   
PDB (IMB)1VYH   
PDB (RSDB)1VYH   
Structural Biology KnowledgeBase1VYH   
SCOP (Structural Classification of Proteins)1VYH   
CATH (Classification of proteins structures)1VYH   
SuperfamilyP68402
Human Protein Atlas [tissue]ENSG00000168092-PAFAH1B2 [tissue]
Peptide AtlasP68402
HPRD03940
IPIIPI00026546   IPI00815864   IPI00982701   IPI00974078   IPI00980480   IPI00976543   
Protein Interaction databases
DIP (DOE-UCLA)P68402
IntAct (EBI)P68402
FunCoupENSG00000168092
BioGRIDPAFAH1B2
STRING (EMBL)PAFAH1B2
ZODIACPAFAH1B2
Ontologies - Pathways
QuickGOP68402
Ontology : AmiGOfibrillar center  1-alkyl-2-acetylglycerophosphocholine esterase activity  phospholipase A2 activity  protein binding  extracellular region  nucleolus  cytoplasm  cytosol  cytosol  plasma membrane  lipid metabolic process  spermatogenesis  brain development  lipid catabolic process  positive regulation of macroautophagy  secretory granule lumen  protein homodimerization activity  neutrophil degranulation  protein heterodimerization activity  platelet-activating factor acetyltransferase activity  extracellular exosome  ficolin-1-rich granule lumen  
Ontology : EGO-EBIfibrillar center  1-alkyl-2-acetylglycerophosphocholine esterase activity  phospholipase A2 activity  protein binding  extracellular region  nucleolus  cytoplasm  cytosol  cytosol  plasma membrane  lipid metabolic process  spermatogenesis  brain development  lipid catabolic process  positive regulation of macroautophagy  secretory granule lumen  protein homodimerization activity  neutrophil degranulation  protein heterodimerization activity  platelet-activating factor acetyltransferase activity  extracellular exosome  ficolin-1-rich granule lumen  
Pathways : KEGGEther lipid metabolism   
NDEx NetworkPAFAH1B2
Atlas of Cancer Signalling NetworkPAFAH1B2
Wikipedia pathwaysPAFAH1B2
Orthology - Evolution
OrthoDB5049
GeneTree (enSembl)ENSG00000168092
Phylogenetic Trees/Animal Genes : TreeFamPAFAH1B2
HOVERGENP68402
HOGENOMP68402
Homologs : HomoloGenePAFAH1B2
Homology/Alignments : Family Browser (UCSC)PAFAH1B2
Gene fusions - Rearrangements
Fusion : MitelmanIGH/PAFAH1B2 [14q32.33/11q23.3]  [t(11;14)(q23;q32)]  
Fusion : MitelmanPAFAH1B2/FOXR1 [11q23.3/11q23.3]  [del(11)(q23)]  [del(11)(q23q23)]  
Fusion : MitelmanPAFAH1B2/GPR137 [11q23.3/11q13.1]  [t(11;11)(q13;q23)]  
Fusion : MitelmanRNF214/PAFAH1B2 [11q23.3/11q23.3]  [t(11;11)(q23;q23)]  
Fusion: TCGA_MDACCPAFAH1B2 11q23.3 GPR137 11q13.1 LUAD
Fusion: TCGA_MDACCRNF214 11q23.3 PAFAH1B2 11q23.3 OV
Tumor Fusion PortalPAFAH1B2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPAFAH1B2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PAFAH1B2
dbVarPAFAH1B2
ClinVarPAFAH1B2
1000_GenomesPAFAH1B2 
Exome Variant ServerPAFAH1B2
ExAC (Exome Aggregation Consortium)ENSG00000168092
GNOMAD BrowserENSG00000168092
Genetic variants : HAPMAP5049
Genomic Variants (DGV)PAFAH1B2 [DGVbeta]
DECIPHERPAFAH1B2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPAFAH1B2 
Mutations
ICGC Data PortalPAFAH1B2 
TCGA Data PortalPAFAH1B2 
Broad Tumor PortalPAFAH1B2
OASIS PortalPAFAH1B2 [ Somatic mutations - Copy number]
Cancer Gene: CensusPAFAH1B2 
Somatic Mutations in Cancer : COSMICPAFAH1B2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPAFAH1B2
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 PAFAH1B2
DgiDB (Drug Gene Interaction Database)PAFAH1B2
DoCM (Curated mutations)PAFAH1B2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PAFAH1B2 (select a term)
intoGenPAFAH1B2
Cancer3DPAFAH1B2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602508   
Orphanet
DisGeNETPAFAH1B2
MedgenPAFAH1B2
Genetic Testing Registry PAFAH1B2
NextProtP68402 [Medical]
TSGene5049
GENETestsPAFAH1B2
Target ValidationPAFAH1B2
Huge Navigator PAFAH1B2 [HugePedia]
snp3D : Map Gene to Disease5049
BioCentury BCIQPAFAH1B2
ClinGenPAFAH1B2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5049
Chemical/Pharm GKB GenePA32906
Clinical trialPAFAH1B2
Miscellaneous
canSAR (ICR)PAFAH1B2 (select the gene name)
Probes
Litterature
PubMed37 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePAFAH1B2
EVEXPAFAH1B2
GoPubMedPAFAH1B2
iHOPPAFAH1B2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 14:27:38 CET 2017

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