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Aliases for ENO3 Gene

Aliases for ENO3 Gene

  • Enolase 3 2 3 4 5
  • Enolase 3 (Beta, Muscle) 2 3
  • Muscle-Specific Enolase 3 4
  • Skeletal Muscle Enolase 3 4
  • Muscle Enriched Enolase 2 3
  • Beta-Enolase 2 3
  • MSE 3 4
  • 2-Phospho-D-Glycerate Hydro-Lyase 4
  • 2-Phospho-D-Glycerate Hydrolyase 3
  • Enolase 3, (Beta, Muscle) 2
  • EC 4
  • GSD13 3

External Ids for ENO3 Gene

Previous GeneCards Identifiers for ENO3 Gene

  • GC17P005273
  • GC17P005192
  • GC17P004797
  • GC17P005055
  • GC17P004795
  • GC17P004851

Summaries for ENO3 Gene

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) is a Protein Coding gene. Diseases associated with ENO3 include Glycogen Storage Disease Xiii and Fish Allergy. Among its related pathways are Metabolism and HIF-1 signaling pathway. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and magnesium ion binding. An important paralog of this gene is ENO1.

UniProtKB/Swiss-Prot for ENO3 Gene

  • Appears to have a function in striated muscle development and regeneration.

Gene Wiki entry for ENO3 Gene

Additional gene information for ENO3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ENO3 Gene

Genomics for ENO3 Gene

GeneHancer (GH) Regulatory Elements for ENO3 Gene

Promoters and enhancers for ENO3 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J004937 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 670.3 -3.1 -3075 14.4 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 E2F8 ZNF143 SP3 NFYC ENO3 RNF167 PFN1 SLC25A11 ZNF232 SPAG7 CHRNE LOC100130950 CAMTA2 RPAIN
GH17J005041 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 25.1 +94.4 94377 1.4 HDAC1 IRF2 TEAD4 TAL1 ZBTB40 FOSL1 TCF12 CTBP1 NCOR1 ADNP ZFP3 SPAG7 ENO3 ENSG00000234203 INCA1 KIF1C CAMTA2 PFN1 SLC52A1 LOC105371502
GH17J004847 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 22.6 -98.5 -98460 4.4 PKNOX1 ZBTB6 MAX ZBTB40 RFX5 SMC3 ZFP91 RCOR1 FOS MAFK CHRNE ENO3 PFN1 ZMYND15 ARRB2 C17orf107 PLD2 CXCL16 PELP1 LOC101559451
GH17J004908 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE 14.5 -38.8 -38782 2.6 HDGF FOXA2 MLX ARNT ARID4B SIN3A ZNF2 YY1 SLC30A9 POLR2B CHRNE LOC101927979 ZNF232 ENSG00000263220 ZNF594 RPAIN LOC100130950 ENO3 DHX33 MIS12
GH17J004996 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 11.5 +50.8 50755 4.2 HDGF MLX ARID4B SIN3A DMAP1 YBX1 YY1 ZNF766 ZNF207 ZNF143 INCA1 KIF1C NUP88 CHRNE ZNF232 MIS12 ZZEF1 CAMTA2 DERL2 ENSG00000234203
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ENO3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ENO3 gene promoter:
  • NF-kappaB1
  • E2F-3a
  • E2F-2
  • E2F-1
  • E2F

Genomic Locations for ENO3 Gene

Genomic Locations for ENO3 Gene
9,040 bases
Plus strand
9,040 bases
Plus strand

Genomic View for ENO3 Gene

Genes around ENO3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ENO3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ENO3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ENO3 Gene

Proteins for ENO3 Gene

  • Protein details for ENO3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • B4DUI6
    • B4DUM6
    • D3DTL2
    • E7ENK8
    • Q96AE2

    Protein attributes for ENO3 Gene

    434 amino acids
    Molecular mass:
    46987 Da
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for ENO3 Gene

    Alternative splice isoforms for ENO3 Gene


neXtProt entry for ENO3 Gene

Post-translational modifications for ENO3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ENO3 Gene

Domains & Families for ENO3 Gene

Gene Families for ENO3 Gene

Human Protein Atlas (HPA):
  • Candidate cardiovascular disease genes
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for ENO3 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the enolase family.
  • Belongs to the enolase family.
genes like me logo Genes that share domains with ENO3: view

Function for ENO3 Gene

Molecular function for ENO3 Gene

UniProtKB/Swiss-Prot Function:
Appears to have a function in striated muscle development and regeneration.
UniProtKB/Swiss-Prot CatalyticActivity:
2-phospho-D-glycerate = phosphoenolpyruvate + H(2)O.
GENATLAS Biochemistry:
enolase 3,beta subunit,muscle (2-phospho-D-glycerate hydratase),glycolysis,energy pathway

Enzyme Numbers (IUBMB) for ENO3 Gene

Phenotypes From GWAS Catalog for ENO3 Gene

Gene Ontology (GO) - Molecular Function for ENO3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IEA --
GO:0004634 phosphopyruvate hydratase activity TAS --
GO:0016829 lyase activity IEA --
GO:0042803 protein homodimerization activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ENO3: view
genes like me logo Genes that share phenotypes with ENO3: view

Human Phenotype Ontology for ENO3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ENO3

Clone Products

  • Addgene plasmids for ENO3

No data available for Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ENO3 Gene

Localization for ENO3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ENO3 Gene

Cytoplasm. Note=Localized to the Z line. Some colocalization with CKM at M-band (By similarity). {ECO:0000250}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ENO3 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 5
cytoskeleton 2
mitochondrion 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ENO3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000015 phosphopyruvate hydratase complex IEA --
GO:0005615 extracellular space HDA 22664934
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with ENO3: view

Pathways & Interactions for ENO3 Gene

genes like me logo Genes that share pathways with ENO3: view

Pathways by source for ENO3 Gene

UniProtKB/Swiss-Prot P13929-ENOB_HUMAN

  • Pathway: Carbohydrate degradation; glycolysis; pyruvate from D-glyceraldehyde 3-phosphate: step 4/5.

Gene Ontology (GO) - Biological Process for ENO3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006094 gluconeogenesis TAS --
GO:0006096 glycolytic process IEA --
GO:0007568 aging IEA --
GO:0021762 substantia nigra development HEP --
GO:0042493 response to drug IEA --
genes like me logo Genes that share ontologies with ENO3: view

No data available for SIGNOR curated interactions for ENO3 Gene

Drugs & Compounds for ENO3 Gene

(8) Drugs for ENO3 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Magnesium Approved Nutra 0
2-phospho-D-glyceric acid Experimental Pharma Target 0
phosphoenolpyruvate Experimental Pharma Target 0
Phosphoglycolic acid Experimental Pharma Target 0

(4) Additional Compounds for ENO3 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 5-Dehydroquinic acid
  • 5-Dehydroquinate
  • 3-Dehydroquinic acid
  • Cyclohexan-1,4,5-triol-3-one-1-carboxylic acid
genes like me logo Genes that share compounds with ENO3: view

Transcripts for ENO3 Gene

mRNA/cDNA for ENO3 Gene

Unigene Clusters for ENO3 Gene

Enolase 3 (beta, muscle):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ENO3

Clone Products

  • Addgene plasmids for ENO3

Alternative Splicing Database (ASD) splice patterns (SP) for ENO3 Gene

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: - - -
SP6: - - - -
SP7: - - - -
SP8: - - - - -
SP9: - - -
SP11: - -
SP12: -

ExUns: 11b ^ 12 ^ 13

Relevant External Links for ENO3 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ENO3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ENO3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ENO3 Gene

This gene is overexpressed in Muscle - Skeletal (x42.2) and Heart - Left Ventricle (x4.6).

Protein differential expression in normal tissues from HIPED for ENO3 Gene

This gene is overexpressed in Tonsil (43.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ENO3 Gene

NURSA nuclear receptor signaling pathways regulating expression of ENO3 Gene:


SOURCE GeneReport for Unigene cluster for ENO3 Gene:


mRNA Expression by UniProt/SwissProt for ENO3 Gene:

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.

Evidence on tissue expression from TISSUES for ENO3 Gene

  • Muscle(5)
  • Liver(4.5)
  • Heart(3.6)
  • Nervous system(2.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ENO3 Gene

Germ Layers:
  • mesoderm
  • skeletal muscle
genes like me logo Genes that share expression patterns with ENO3: view

No data available for Protein tissue co-expression partners for ENO3 Gene

Orthologs for ENO3 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ENO3 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ENO3 34 33
  • 100 (n)
(Bos Taurus)
Mammalia ENO3 34 33
  • 92.32 (n)
(Rattus norvegicus)
Mammalia Eno3 33
  • 90.86 (n)
(Canis familiaris)
Mammalia ENO3 34 33
  • 90.25 (n)
(Monodelphis domestica)
Mammalia ENO3 34
  • 90 (a)
(Mus musculus)
Mammalia Eno3 16 34 33
  • 89.78 (n)
(Ornithorhynchus anatinus)
Mammalia ENO3 34
  • 84 (a)
(Anolis carolinensis)
Reptilia ENO3 34
  • 92 (a)
(Danio rerio)
Actinopterygii eno3 34 33
  • 76.77 (n)
fruit fly
(Drosophila melanogaster)
Insecta Eno 34 35
  • 63 (a)
(Caenorhabditis elegans)
Secernentea enol-1 34
  • 68 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ENO1 36 34
  • 63 (a)
ENO2 34
  • 62 (a)
ERR2 34
  • 59 (a)
ERR3 34
  • 59 (a)
ERR1 34
  • 59 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10219 34
  • 73 (a)
Species where no ortholog for ENO3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ENO3 Gene

Gene Tree for ENO3 (if available)
Gene Tree for ENO3 (if available)
Evolutionary constrained regions (ECRs) for ENO3: view image

Paralogs for ENO3 Gene

Paralogs for ENO3 Gene

(4) SIMAP similar genes for ENO3 Gene using alignment to 9 proteins:

  • E5RG95_HUMAN
  • E5RI09_HUMAN
  • K7EP84_HUMAN
  • K7EPM1_HUMAN Pseudogenes for ENO3 Gene

genes like me logo Genes that share paralogs with ENO3: view

Variants for ENO3 Gene

Sequence variations from dbSNP and Humsavar for ENO3 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs121918403 pathogenic, Glycogen storage disease type 13, Glycogen storage disease 13 (GSD13) [MIM:612932] 4,955,097(+) G/A/C/T coding_sequence_variant, missense_variant
rs121918404 pathogenic, Glycogen storage disease type 13, Glycogen storage disease 13 (GSD13) [MIM:612932] 4,956,626(+) G/A coding_sequence_variant, missense_variant
rs142390642 uncertain-significance, likely-benign, Glycogen storage disease type 13, not specified 4,953,818(+) G/A/T coding_sequence_variant, synonymous_variant
rs143945974 likely-benign, benign, Glycogen storage disease type 13, not specified 4,953,095(+) G/C coding_sequence_variant, intron_variant, missense_variant
rs151153333 likely-benign, Glycogen storage disease type 13 4,952,790(+) CCC/CC intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ENO3 Gene

Variant ID Type Subtype PubMed ID
esv2715561 CNV deletion 23290073
nsv574273 CNV gain 21841781
nsv833347 CNV loss 17160897
nsv833349 CNV loss 17160897
nsv833350 CNV loss 17160897

Variation tolerance for ENO3 Gene

Residual Variation Intolerance Score: 27.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.70; 91.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ENO3 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ENO3 Gene

Disorders for ENO3 Gene

MalaCards: The human disease database

(7) MalaCards diseases for ENO3 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
glycogen storage disease xiii
  • gsd13
fish allergy
  • allergy to fish
glycogen storage disease
  • glycogenoses
discoid lupus erythematosus
  • lupus erythematosus discoid
coenzyme q10 deficiency disease
  • coenzyme q10 deficiency, primary
- elite association - COSMIC cancer census association via MalaCards
Search ENO3 in MalaCards View complete list of genes associated with diseases


  • 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. {ECO:0000269 PubMed:11506403}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ENO3

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ENO3: view

No data available for Genatlas for ENO3 Gene

Publications for ENO3 Gene

  1. Characterization of MR-1, a novel myofibrillogenesis regulator in human muscle. (PMID: 15188056) Li TB … Gong LM (Acta biochimica et biophysica Sinica 2004) 3 4 22 58
  2. Structural features of the human gene for muscle-specific enolase. Differential splicing in the 5'-untranslated sequence generates two forms of mRNA. (PMID: 8513787) Giallongo A … Feo S (European journal of biochemistry 1993) 3 4 22 58
  3. Molecular structure of the human muscle-specific enolase gene (ENO3). (PMID: 1840492) Peshavaria M … Day IN (The Biochemical journal 1991) 3 4 22 58
  4. Nucleotide sequence of a cDNA encoding the human muscle-specific enolase (MSE). (PMID: 2336366) Calì L … Giallongo A (Nucleic acids research 1990) 3 4 22 58
  5. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 44 58

Products for ENO3 Gene

Sources for ENO3 Gene

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