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ENO3 (enolase 3)

Identity

Alias_namesenolase 3, (beta, muscle)
enolase 3 (beta, muscle)
Other aliasGSD13
MSE
HGNC (Hugo) ENO3
LocusID (NCBI) 2027
Atlas_Id 46920
Location 17p13.2  [Link to chromosome band 17p13]
Location_base_pair Starts at 4951089 and ends at 4957131 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)
ENO3 (17p13.2) / VIM (10p13)

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)ENO3   3354
Cards
Entrez_Gene (NCBI)ENO3  2027  enolase 3
AliasesGSD13; MSE
GeneCards (Weizmann)ENO3
Ensembl hg19 (Hinxton)ENSG00000108515 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000108515 [Gene_View]  chr17:4951089-4957131 [Contig_View]  ENO3 [Vega]
ICGC DataPortalENSG00000108515
TCGA cBioPortalENO3
AceView (NCBI)ENO3
Genatlas (Paris)ENO3
WikiGenes2027
SOURCE (Princeton)ENO3
Genetics Home Reference (NIH)ENO3
Genomic and cartography
GoldenPath hg38 (UCSC)ENO3  -     chr17:4951089-4957131 +  17p13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ENO3  -     17p13.2   [Description]    (hg19-Feb_2009)
EnsemblENO3 - 17p13.2 [CytoView hg19]  ENO3 - 17p13.2 [CytoView hg38]
Mapping of homologs : NCBIENO3 [Mapview hg19]  ENO3 [Mapview hg38]
OMIM131370   612932   
Gene and transcription
Genbank (Entrez)AK300662 AK300673 AK300709 AK309864 AL359213
RefSeq transcript (Entrez)NM_001193503 NM_001976 NM_053013
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ENO3
Cluster EST : UnigeneHs.224171 [ NCBI ]
CGAP (NCI)Hs.224171
Alternative Splicing GalleryENSG00000108515
Gene ExpressionENO3 [ NCBI-GEO ]   ENO3 [ EBI - ARRAY_EXPRESS ]   ENO3 [ SEEK ]   ENO3 [ MEM ]
Gene Expression Viewer (FireBrowse)ENO3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2027
GTEX Portal (Tissue expression)ENO3
Human Protein AtlasENSG00000108515-ENO3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP13929   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP13929  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP13929
Splice isoforms : SwissVarP13929
Catalytic activity : Enzyme4.2.1.11 [ Enzyme-Expasy ]   4.2.1.114.2.1.11 [ IntEnz-EBI ]   4.2.1.11 [ BRENDA ]   4.2.1.11 [ KEGG ]   
PhosPhoSitePlusP13929
Domaine pattern : Prosite (Expaxy)ENOLASE (PS00164)   
Domains : Interpro (EBI)Enolase    Enolase_C    Enolase_C-like    Enolase_CS    Enolase_N    Enolase_N-like   
Domain families : Pfam (Sanger)Enolase_C (PF00113)    Enolase_N (PF03952)   
Domain families : Pfam (NCBI)pfam00113    pfam03952   
Domain families : Smart (EMBL)Enolase_C (SM01192)  Enolase_N (SM01193)  
Conserved Domain (NCBI)ENO3
DMDM Disease mutations2027
Blocks (Seattle)ENO3
PDB (SRS)2XSX   
PDB (PDBSum)2XSX   
PDB (IMB)2XSX   
PDB (RSDB)2XSX   
Structural Biology KnowledgeBase2XSX   
SCOP (Structural Classification of Proteins)2XSX   
CATH (Classification of proteins structures)2XSX   
SuperfamilyP13929
Human Protein Atlas [tissue]ENSG00000108515-ENO3 [tissue]
Peptide AtlasP13929
HPRD11746
IPIIPI00218474   IPI00909949   IPI00942494   IPI00909595   IPI00981903   IPI00976385   IPI00980411   IPI00973962   IPI00973764   
Protein Interaction databases
DIP (DOE-UCLA)P13929
IntAct (EBI)P13929
FunCoupENSG00000108515
BioGRIDENO3
STRING (EMBL)ENO3
ZODIACENO3
Ontologies - Pathways
QuickGOP13929
Ontology : AmiGOphosphopyruvate hydratase complex  magnesium ion binding  phosphopyruvate hydratase activity  extracellular space  cytosol  cytosol  plasma membrane  gluconeogenesis  aging  membrane  response to drug  protein homodimerization activity  skeletal muscle tissue regeneration  protein heterodimerization activity  canonical glycolysis  extracellular exosome  
Ontology : EGO-EBIphosphopyruvate hydratase complex  magnesium ion binding  phosphopyruvate hydratase activity  extracellular space  cytosol  cytosol  plasma membrane  gluconeogenesis  aging  membrane  response to drug  protein homodimerization activity  skeletal muscle tissue regeneration  protein heterodimerization activity  canonical glycolysis  extracellular exosome  
Pathways : KEGGGlycolysis / Gluconeogenesis    RNA degradation    HIF-1 signaling pathway   
NDEx NetworkENO3
Atlas of Cancer Signalling NetworkENO3
Wikipedia pathwaysENO3
Orthology - Evolution
OrthoDB2027
GeneTree (enSembl)ENSG00000108515
Phylogenetic Trees/Animal Genes : TreeFamENO3
HOVERGENP13929
HOGENOMP13929
Homologs : HomoloGeneENO3
Homology/Alignments : Family Browser (UCSC)ENO3
Gene fusions - Rearrangements
Tumor Fusion PortalENO3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerENO3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ENO3
dbVarENO3
ClinVarENO3
1000_GenomesENO3 
Exome Variant ServerENO3
ExAC (Exome Aggregation Consortium)ENSG00000108515
GNOMAD BrowserENSG00000108515
Genetic variants : HAPMAP2027
Genomic Variants (DGV)ENO3 [DGVbeta]
DECIPHERENO3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisENO3 
Mutations
ICGC Data PortalENO3 
TCGA Data PortalENO3 
Broad Tumor PortalENO3
OASIS PortalENO3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICENO3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDENO3
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 ENO3
DgiDB (Drug Gene Interaction Database)ENO3
DoCM (Curated mutations)ENO3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ENO3 (select a term)
intoGenENO3
Cancer3DENO3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM131370    612932   
Orphanet14422   
DisGeNETENO3
MedgenENO3
Genetic Testing Registry ENO3
NextProtP13929 [Medical]
TSGene2027
GENETestsENO3
Target ValidationENO3
Huge Navigator ENO3 [HugePedia]
snp3D : Map Gene to Disease2027
BioCentury BCIQENO3
ClinGenENO3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2027
Chemical/Pharm GKB GenePA27789
Clinical trialENO3
Miscellaneous
canSAR (ICR)ENO3 (select the gene name)
Probes
Litterature
PubMed26 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineENO3
EVEXENO3
GoPubMedENO3
iHOPENO3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 14:12:02 CET 2017

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