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ESD (esterase D)

Identity

Alias_namesesterase D/formylglutathione hydrolase
Other aliasFGH
HGNC (Hugo) ESD
LocusID (NCBI) 2098
Atlas_Id 52548
Location 13q14.2  [Link to chromosome band 13q14]
Location_base_pair Starts at 47345391 and ends at 47371367 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ESD (13q14.2) / C2orf61 (2p21)ESD (13q14.2) / SHISA5 (3p21.31)FNDC3A (13q14.2) / ESD (13q14.2)
ITM2B (13q14.2) / ESD (13q14.2)TDRD3 (13q21.2) / ESD (13q14.2)ITM2B 13q14.2 / ESD 13q14.2
TDRD3 13q21.2 / ESD 13q14.2

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)ESD   3465
Cards
Entrez_Gene (NCBI)ESD  2098  esterase D
AliasesFGH
GeneCards (Weizmann)ESD
Ensembl hg19 (Hinxton)ENSG00000139684 [Gene_View]  chr13:47345391-47371367 [Contig_View]  ESD [Vega]
Ensembl hg38 (Hinxton)ENSG00000139684 [Gene_View]  chr13:47345391-47371367 [Contig_View]  ESD [Vega]
ICGC DataPortalENSG00000139684
TCGA cBioPortalESD
AceView (NCBI)ESD
Genatlas (Paris)ESD
WikiGenes2098
SOURCE (Princeton)ESD
Genetics Home Reference (NIH)ESD
Genomic and cartography
GoldenPath hg19 (UCSC)ESD  -     chr13:47345391-47371367 -  13q14.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ESD  -     13q14.2   [Description]    (hg38-Dec_2013)
EnsemblESD - 13q14.2 [CytoView hg19]  ESD - 13q14.2 [CytoView hg38]
Mapping of homologs : NCBIESD [Mapview hg19]  ESD [Mapview hg38]
OMIM133280   
Gene and transcription
Genbank (Entrez)AF085881 AF112219 AK093643 AK098540 BC001169
RefSeq transcript (Entrez)NM_001984
RefSeq genomic (Entrez)NC_000013 NC_018924 NT_024524 NW_004929388
Consensus coding sequences : CCDS (NCBI)ESD
Cluster EST : UnigeneHs.432491 [ NCBI ]
CGAP (NCI)Hs.432491
Alternative Splicing GalleryENSG00000139684
Gene ExpressionESD [ NCBI-GEO ]   ESD [ EBI - ARRAY_EXPRESS ]   ESD [ SEEK ]   ESD [ MEM ]
Gene Expression Viewer (FireBrowse)ESD [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2098
GTEX Portal (Tissue expression)ESD
Protein : pattern, domain, 3D structure
UniProt/SwissProtP10768   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP10768  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP10768
Splice isoforms : SwissVarP10768
Catalytic activity : Enzyme3.1.2.12 [ Enzyme-Expasy ]   3.1.2.123.1.2.12 [ IntEnz-EBI ]   3.1.2.12 [ BRENDA ]   3.1.2.12 [ KEGG ]   
PhosPhoSitePlusP10768
Domains : Interpro (EBI)AB_hydrolase    Esterase_put    S-formylglutathione_hydrol   
Domain families : Pfam (Sanger)Esterase (PF00756)   
Domain families : Pfam (NCBI)pfam00756   
Conserved Domain (NCBI)ESD
DMDM Disease mutations2098
Blocks (Seattle)ESD
PDB (SRS)3FCX   
PDB (PDBSum)3FCX   
PDB (IMB)3FCX   
PDB (RSDB)3FCX   
Structural Biology KnowledgeBase3FCX   
SCOP (Structural Classification of Proteins)3FCX   
CATH (Classification of proteins structures)3FCX   
SuperfamilyP10768
Human Protein AtlasENSG00000139684
Peptide AtlasP10768
HPRD00588
IPIIPI00411706   IPI00641040   IPI00645836   
Protein Interaction databases
DIP (DOE-UCLA)P10768
IntAct (EBI)P10768
FunCoupENSG00000139684
BioGRIDESD
STRING (EMBL)ESD
ZODIACESD
Ontologies - Pathways
QuickGOP10768
Ontology : AmiGOprotein binding  endoplasmic reticulum lumen  biological_process  cytoplasmic, membrane-bounded vesicle  hydrolase activity, acting on ester bonds  S-formylglutathione hydrolase activity  formaldehyde catabolic process  methylumbelliferyl-acetate deacetylase activity  carboxylic ester hydrolase activity  extracellular exosome  glutathione derivative biosynthetic process  
Ontology : EGO-EBIprotein binding  endoplasmic reticulum lumen  biological_process  cytoplasmic, membrane-bounded vesicle  hydrolase activity, acting on ester bonds  S-formylglutathione hydrolase activity  formaldehyde catabolic process  methylumbelliferyl-acetate deacetylase activity  carboxylic ester hydrolase activity  extracellular exosome  glutathione derivative biosynthetic process  
NDEx NetworkESD
Atlas of Cancer Signalling NetworkESD
Wikipedia pathwaysESD
Orthology - Evolution
OrthoDB2098
GeneTree (enSembl)ENSG00000139684
Phylogenetic Trees/Animal Genes : TreeFamESD
HOVERGENP10768
HOGENOMP10768
Homologs : HomoloGeneESD
Homology/Alignments : Family Browser (UCSC)ESD
Gene fusions - Rearrangements
Fusion : MitelmanITM2B/ESD [13q14.2/13q14.2]  [t(13;13)(q14;q14)]  
Fusion : MitelmanTDRD3/ESD [13q21.2/13q14.2]  [t(13;13)(q14;q21)]  
Fusion: TCGAITM2B 13q14.2 ESD 13q14.2 LUSC
Fusion: TCGATDRD3 13q21.2 ESD 13q14.2 GBM
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerESD [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ESD
dbVarESD
ClinVarESD
1000_GenomesESD 
Exome Variant ServerESD
ExAC (Exome Aggregation Consortium)ESD (select the gene name)
Genetic variants : HAPMAP2098
Genomic Variants (DGV)ESD [DGVbeta]
DECIPHER (Syndromes)13:47345391-47371367  ENSG00000139684
CONAN: Copy Number AnalysisESD 
Mutations
ICGC Data PortalESD 
TCGA Data PortalESD 
Broad Tumor PortalESD
OASIS PortalESD [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICESD  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDESD
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ESD
DgiDB (Drug Gene Interaction Database)ESD
DoCM (Curated mutations)ESD (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ESD (select a term)
intoGenESD
Cancer3DESD(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM133280   
Orphanet
MedgenESD
Genetic Testing Registry ESD
NextProtP10768 [Medical]
TSGene2098
GENETestsESD
Huge Navigator ESD [HugePedia]
snp3D : Map Gene to Disease2098
BioCentury BCIQESD
ClinGenESD
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2098
Chemical/Pharm GKB GenePA27882
Clinical trialESD
Miscellaneous
canSAR (ICR)ESD (select the gene name)
Probes
Litterature
PubMed43 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineESD
EVEXESD
GoPubMedESD
iHOPESD
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 13:05:00 CET 2017

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