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ENO3 Gene

protein-coding   GIFtS: 70
GCID: GC17P004851

Enolase 3 (Beta, Muscle)

(Previous names: enolase 3, (beta, muscle))
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Enolase 3 (Beta, Muscle)1 2     Enolase 3, (Beta, Muscle)1
Muscle-Specific Enolase2 3     2-Phospho-D-Glycerate Hydrolyase2
Skeletal Muscle Enolase2 3     beta-enolase2
MSE2 3     2-Phospho-D-Glycerate Hydro-Lyase3
EC 4.2.1.113 8     Enolase 33
GSD132 5     EC 4.2.18

External Ids:    HGNC: 33541   Entrez Gene: 20272   Ensembl: ENSG000001085157   OMIM: 1313705   UniProtKB: P139293   

Export aliases for ENO3 gene to outside databases

Previous GC identifers: GC17P005273 GC17P005192 GC17P004797 GC17P005055 GC17P004795


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ENO3 Gene:
This gene encodes one of the three enolase isoenzymes found in mammals. This isoenzyme is found in skeletal muscle
cells in the adult where it may play a role in muscle development and regeneration. A switch from alpha enolase
to beta enolase occurs in muscle tissue during development in rodents. Mutations in this gene have be associated
glycogen storage disease. Alternatively spliced transcript variants encoding different isoforms have been
described.(provided by RefSeq, Jul 2010)

GeneCards Summary for ENO3 Gene:
ENO3 (enolase 3 (beta, muscle)) is a protein-coding gene. Diseases associated with ENO3 include discoid lupus erythematosus, and glycogen storage disease type 12. GO annotations related to this gene include magnesium ion binding and protein homodimerization activity. An important paralog of this gene is ENO2.

UniProtKB/Swiss-Prot: ENOB_HUMAN, P13929
Function: Appears to have a function in striated muscle development and regeneration

Gene Wiki entry for ENO3 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000017.11  NT_010718.17  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ENO3 gene promoter:
         E2F-3a   E2F   E2F-1   E2F-2   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidENO3 promoter sequence
   Search Chromatin IP Primers for ENO3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ENO3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17p13.2   Ensembl cytogenetic band:  17p13.2   HGNC cytogenetic band: 17p13.2

ENO3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ENO3 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P004851:  view genomic region     (about GC identifiers)

Start:
4,851,387 bp from pter      End:
4,860,426 bp from pter
Size:
9,040 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ENOB_HUMAN, P13929 (See protein sequence)
Recommended Name: Beta-enolase  
Size: 434 amino acids; 46987 Da
Cofactor: Magnesium. Required for catalysis and for stabilizing the dimer
Subunit: Mammalian enolase is composed of 3 isozyme subunits, alpha, beta and gamma, which can form homodimers or
heterodimers which are cell-type and development-specific. Interacts with PNKD
Developmental stage: During ontogenesis, there is a transition from the alpha/alpha homodimer to the alpha/beta
heterodimer in striated muscle cells, and to the alpha/gamma heterodimer in nerve cells
1 PDB 3D structure from and Proteopedia for ENO3:
2XSX (3D)    
Secondary accessions: B4DUI6 B4DUM6 D3DTL2 E7ENK8 Q96AE2
Alternative splicing: 3 isoforms:  P13929-1   P13929-2   P13929-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ENO3: NX_P13929

Explore proteomics data for ENO3 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys394
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ENO3 (P13929) (see all 46)
     TGQIKTG  EKGVPLY  ELLKTAI  GKGVLKA 


    See ENO3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001180432.1  NP_001967.3  NP_443739.3  

    ENSEMBL proteins: 
     ENSP00000467270   ENSP00000467444   ENSP00000428502   ENSP00000465697   ENSP00000464874  
     ENSP00000430055   ENSP00000324105   ENSP00000428811   ENSP00000430554   ENSP00000430636  
     ENSP00000431087  
    Reactome Protein details: P13929

    ENO3 Human Recombinant Protein Products:

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    Sino Biological Recombinant Protein for ENO3
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    ProSpec Recombinant Protein for ENO3
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    ENO3 Antibody Products:

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    ENO3 Assay Products:

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    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR020810 Enolase_C
     IPR020811 Enolase_N
     IPR000941 Enolase
     IPR020809 Enolase_CS

    Graphical View of Domain Structure for InterPro Entry P13929

    ProtoNet protein and cluster: P13929

    1 Blocks protein domain: IPB000941 Enolase

    UniProtKB/Swiss-Prot: ENOB_HUMAN, P13929
    Similarity: Belongs to the enolase family


    ENO3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ENOB_HUMAN, P13929
    Function: Appears to have a function in striated muscle development and regeneration
    Catalytic activity: 2-phospho-D-glycerate = phosphoenolpyruvate + H(2)O

         Genatlas biochemistry entry for ENO3:
    enolase 3,beta subunit,muscle (2-phospho-D-glycerate hydratase),glycolysis,energy pathway

         Enzyme Numbers (IUBMB): EC 4.2.1.111 2 EC 4.2.12

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000287magnesium ion binding IEA--
    GO:0004634phosphopyruvate hydratase activity IEA--
    GO:0042803protein homodimerization activity IEA--
    GO:0046982protein heterodimerization activity IEA--
         
    ENO3 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ENO3
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ENO3
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    miRNA
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    hsa-miR-593* hsa-miR-205*
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    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 3): ENO3 (NM_053013)
    Sino Biological Human cDNA Clone for ENO3
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ENO3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ENO3

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ENOB_HUMAN, P13929: Cytoplasm. Note=Localized to the Z line. Some colocalization with CKM at M-band (By
    similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    chloroplast1
    cytoskeleton1
    mitochondrion1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000015phosphopyruvate hydratase complex IEA--
    GO:0005615extracellular space IDA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane IDA--

    ENO3 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ENO3 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Glycolysis and gluconeogenesis short map
    Glycolysis and gluconeogenesis short map 0.60
    Glycolysis / Gluconeogenesis0.46
    Glycolysis and Gluconeogenesis0.60
    Glycolysis0.40
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Glucose metabolism
    Glucose metabolism0.44
    Gluconeogenesis0.44
    4Carbon metabolism
    Carbon metabolism0.38
    Biosynthesis of amino acids0.38
    5Deadenylation-dependent mRNA decay
    RNA degradation0.48

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for ENO3
        Glycolysis and gluconeogenesis (short map)

    1 BioSystems Pathway for ENO3
        Glycolysis and Gluconeogenesis


    2 Reactome Pathways for ENO3
        Gluconeogenesis
    Glycolysis


    Selected Kegg Pathways  (Kegg details for ENO3) (see all 6):
        Glycolysis / Gluconeogenesis
    Metabolic pathways
    Carbon metabolism
    Biosynthesis of amino acids
    RNA degradation

    UniProtKB/Swiss-Prot: ENOB_HUMAN, P13929
    Pathway: Carbohydrate degradation; glycolysis; pyruvate from D-glyceraldehyde 3-phosphate: step 4/5


    ENO3 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including ENO3: 

              Glucose Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ENO3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ENO3 (P139293 ENSP000003241054) via UniProtKB, MINT, STRING, and/or I2D (see all 151)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSPA9P386463, ENSP000002971854I2D: score=4 STRING: ENSP00000297185
    NAA10P412273, ENSP000004177634I2D: score=4 STRING: ENSP00000417763
    EEF2P136393, ENSP000003079404I2D: score=2 STRING: ENSP00000307940
    GAPDHP044063, ENSP000002292394I2D: score=1 STRING: ENSP00000229239
    PGK1P005583, ENSP000003624134I2D: score=1 STRING: ENSP00000362413
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006006glucose metabolic process TAS--
    GO:0006094gluconeogenesis TAS--
    GO:0006096glycolytic process TAS--
    GO:0007568aging IEA--

    ENO3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ENO3 (ENOB)

    5 HMDB Compounds for ENO3    About this table
    CompoundSynonyms CAS #PubMed Ids
    2-Phospho-D-glyceric acid2-Phospho-D-glycerate (see all 7)----
    3-Dehydroquinate3-Dehydroquinic acid (see all 4)----
    MagnesiumMagnesium (see all 2)7439-95-4--
    Phosphoenolpyruvic acid2-hydroxy-Acrylic acid dihydrogen phosphate (see all 6)138-08-9--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    4 DrugBank Compounds for ENO3    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    2-Phospho-D-Glyceric Acid-- --target--17139284 17016423 10592235
    2-Phosphoglycolic Acid-- 13147-57-4target--17139284 17016423 10592235
    Phosphoenolpyruvate-- 138-08-9target--17139284 17016423 10592235
    Phosphonoacetohydroxamic Acid-- --target--17139284 17016423 10592235

    4 Novoseek inferred chemical compound relationships for ENO3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    2-phosphoglycerate 91.3 2 10657248 (1)
    creatinine 25.4 10 10657248 (2), 12855922 (2), 9370460 (2), 1632183 (1) (see all 5)
    glycogen 24.5 1 1632183 (1)
    lactate 16.4 2 18421897 (1), 12149506 (1)



    ENO3 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ENO3 gene (3 alternative transcripts): 
    NM_001193503.1  NM_001976.4  NM_053013.3  

    Unigene Cluster for ENO3:

    Enolase 3 (beta, muscle)
    Hs.224171  [show with all ESTs]
    Unigene Representative Sequence: NM_001976
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000519266 ENST00000520221 ENST00000522798 ENST00000522301 ENST00000521811
    ENST00000519602 ENST00000323997(uc002gab.4 uc002gac.4 uc010vss.2 uc010vst.2)
    ENST00000518972 ENST00000571235 ENST00000519834 ENST00000522249 ENST00000521659(uc010vsr.2)
    ENST00000519584 ENST00000519300 ENST00000518175 ENST00000522425 ENST00000522954

    miRNA
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      QuantiFast Probe-based Assays in human, mouse, rat ENO3

    Additional mRNA sequence: 

    AK300662.1 AK300673.1 AK300709.1 AK309864.1 AL359213.1 BC017249.2 X16504.1 X51957.1 

    Selected DOTS entries (see all 32):

    DT.80101024  DT.92446803  DT.100819433  DT.95356673  DT.120891279  DT.75191163  DT.120891214  DT.120890922 
    DT.120890966  DT.119805  DT.100819435  DT.120890995  DT.120891007  DT.99990617  DT.119804  DT.70104171 
    DT.95356665  DT.120890945  DT.120891232  DT.101958727  DT.101979431  DT.120891205  DT.95356663  DT.95356666 

    Selected AceView cDNA sequences (see all 367):

    F19703 BQ651397 F27216 BE927460 R99631 BM709983 BF002741 AJ346009 
    F28623 F27693 F18397 T85650 F26033 F35554 AU103381 BQ643719 
    F30286 X51957 N85183 F19147 F19037 CF552956 F26999 NM_053013 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ENO3 (see all 13)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b · 8c ^ 9a · 9b · 9c ^ 10a · 10b · 10c ^ 11a ·
    SP1:                                -     -           -                 -                       -                                   -                       -   
    SP2:                                      -           -                 -                       -                                                               
    SP3:        -     -     -     -     -     -           -                 -                                                                                       
    SP4:                                -     -           -                 -                                                                                       
    SP5:                                                  -                 -                       -                                                               

    ExUns: 11b ^ 12 ^ 13
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for ENO3

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ENO3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGATCGAGG
    ENO3 Expression
    About this image


    ENO3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Eye (Sensory Organs)
             Lens
     
     Lung (Respiratory System)
             Stem Bronchi
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    ENO3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ENO3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.224171

    UniProtKB/Swiss-Prot: ENOB_HUMAN, P13929
    Tissue specificity: The alpha/alpha homodimer is expressed in embryo and in most adult tissues. The alpha/beta
    heterodimer and the beta/beta homodimer are found in striated muscle, and the alpha/gamma heterodimer and the
    gamma/gamma homodimer in neurons

        Pathway & Disease-focused RT2 Profiler PCR Array including ENO3: 
              Glucose Metabolism in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat ENO3
    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ENO3 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Eno31 , 5 enolase 3, beta muscle1, 5 89.78(n)1
    97.7(a)1
      11 (43.21 cM)5
    138081  NM_001136062.21  NP_001129534.11 
     706572025 
    lizard
    (Anolis carolinensis)
    Reptilia ENO36
    enolase 3 (beta, muscle)
    92(a)
    1 ↔ 1
    AAWZ02041413(21-5517)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC045082.12   -- 82.94(n)    BC045082.1 
    zebrafish
    (Danio rerio)
    Actinopterygii eno31 enolase 3, (beta, muscle) 76.77(n)
    85.88(a)
      378963  NM_214723.2  NP_999888.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Eno3 glycolysis phosphopyruvate hydratase 72(a)   22B1   --
    worm
    (Caenorhabditis elegans)
    Secernentea enol-16
    Protein ENOL-1, isoform c
    68(a)
    1 → many
    II(8930985-8933799) WBGene00011884
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ENO1(YGR254W)4 Enolase I, a phosphopyruvate hydratase that catalyzes more   --   7(1000927-1002240) 853169  NP_011770.1 
    corn
    (Zea mays)
    Liliopsida X55981.12   -- 75.97(n)    X55981.1 


    ENSEMBL Gene Tree for ENO3 (if available)
    TreeFam Gene Tree for ENO3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ENO3 gene
    ENO22  ENO12  ENO42  
    4 SIMAP similar genes for ENO3 using alignment to 9 protein entries:     ENOB_HUMAN (see all proteins):
    ENO1    EDARADD    ENO2    TMEM237

    ENO3 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ENO3
    PGOHUM00000239994


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ENO3 (see all 289)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219184031,2,,4
    CGlycogen storage disease 13 (GSD13)4 pathogenic14845824(+) CGGGGG/ACTCCC 6 /D /G mis11Minor allele frequency- A:0.00NA 4550
    VAR_0206214
    Glycogen storage disease 13 (GSD13)4--see VAR_0206212 G E mis40--------
    rs1219184041,2
    Cpathogenic14847353(+) CTCTGG/AGGAGA 6 /E /G mis11Minor allele frequency- A:0.00NA 4552
    rs47907141,2
    C,F,A,H--4839671(+) CCACCC/TTTGAT 3 -- us2k123Minor allele frequency- T:0.35NS EA NA WA CSA 2346
    rs1852373401,2
    --4840031(+) AGTGGC/TAACTT 3 -- us2k10--------
    rs1120899241,2
    C--4840078(+) GGTTTC/TTTCGC 3 -- us2k13Minor allele frequency- T:0.26CSA WA EA 239
    rs1151389051,2
    C,F--4840095(+) ATGTGC/TGCTCA 3 -- us2k11Minor allele frequency- T:0.06WA 118
    rs1473038941,2
    --4840156(+) TGAAA-/CCCGCC 3 -- us2k10--------
    rs1136760371,2
    C--4840222(+) GGGGTC/TACCGA 3 -- us2k10--------
    rs10656331,2
    C,F,H--4840225(-) CGCTCG/TGTGAC 3 -- us2k17Minor allele frequency- T:0.05MN NS NA WA 802

    HapMap Linkage Disequilibrium report for ENO3 (4851387 - 4860426 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for ENO3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2715561CNV Deletion23290073
    nsv907621CNV Loss21882294
    nsv907620CNV Loss21882294
    nsv833347CNV Loss17160897
    nsv833350CNV Loss17160897
    nsv833349CNV Loss17160897
    nsv907619CNV Loss21882294

    Human Gene Mutation Database (HGMD): ENO3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ENO3
    DNA2.0 Custom Variant and Variant Library Synthesis for ENO3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 131370   
    OMIM disorders: 612932  
    UniProtKB/Swiss-Prot: ENOB_HUMAN, P13929
  • Glycogen storage disease 13 (GSD13) [MIM:612932]: A metabolic disorder that results in exercise-induced
    myalgias, generalized muscle weakness and fatigability. It is characterized by increased serum creatine kinase
    and decreased enolase 3 activity. Dramatically reduced protein levels with focal sarcoplasmic accumulation of
    glycogen-beta particles are detected on ultrastructural analysis. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 19 diseases for ENO3:    
    About MalaCards
    discoid lupus erythematosus    glycogen storage disease type 12    lymphocytic hypophysitis    enolase deficiency
    coenzyme q10 deficiency disease    glycogen storage disease    limb-girdle muscular dystrophy    malaria
    myopathy    muscular dystrophy    hypoxia    pneumonia
    lupus erythematosus    tuberculosis    neuroblastoma    cerebritis
    multiple myeloma    myeloma    neuronitis

    1 disease from the University of Copenhagen DISEASES database for ENO3:
    Coenzyme Q10 deficiency disease

    ENO3 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for ENO3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 0 1 15717328 (1)

    Genetic Association Database (GAD): ENO3
    Human Genome Epidemiology (HuGE) Navigator: ENO3 (2 documents)

    Export disorders for ENO3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ENO3 gene, integrated from 10 sources (see all 69):
    (articles sorted by number of sources associating them with ENO3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Nucleotide sequence of a cDNA encoding the human muscle-specific enolase (MSE). (PubMed id 2336366)1, 2, 9 Cali L.... Giallongo A. (Nucleic Acids Res. 1990)
    2. Structural features of the human gene for muscle-specific enolase. Differential splicing in the 5'-untranslated sequence generates two forms of mRNA. (PubMed id 8513787)1, 2, 9 Giallongo A.... Feo S. (Eur. J. Biochem. 1993)
    3. Molecular structure of the human muscle-specific enolase gene (ENO3). (PubMed id 1840492)1, 2, 9 Peshavaria M. and Day I.N.M. (Biochem. J. 1991)
    4. Characterization of MR-1, a novel myofibrillogenesis regulator in human muscle. (PubMed id 15188056)1, 2, 9 Li T.-B....Gong L.-M. (Acta Biochim. Biophys. Sin. 2004)
    5. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (Mutat. Res. 2010)
    6. Candidate-gene testing for orphan limb-girdle muscular dystrophies. (PubMed id 19472918)1, 4 Aurino S....Nigro V. (Acta Myol 2008)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Structure of human muscle (beta) enolase mRNA and protein deduced from a genomic clone. (PubMed id 2587223)1, 2 Peshavaria M.... Day I.N.M. (Nucleic Acids Res. 1989)
    9. Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis. (PubMed id 11506403)2, 9 Comi G.P.... Bresolin N. (Ann. Neurol. 2001)
    10. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2027 HGNC: 3354 AceView: ENO3 Ensembl:ENSG00000108515 euGenes: HUgn2027
    ECgene: ENO3 Kegg: 2027 H-InvDB: ENO3

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ENO3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ENO3 gene:
    Search GeneIP for patents involving ENO3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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