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Aliases for ENO3 Gene

Aliases for ENO3 Gene

  • Enolase 3 2 3 4
  • Enolase 3 (Beta, Muscle) 2 3 5
  • Muscle Enriched Enolase 2 3
  • Muscle-Specific Enolase 3 4
  • Skeletal Muscle Enolase 3 4
  • EC 4.2.1.11 4 63
  • MSE 3 4
  • 2-Phospho-D-Glycerate Hydro-Lyase 4
  • 2-Phospho-D-Glycerate Hydrolyase 3
  • Enolase 3, (Beta, Muscle) 2
  • Beta-Enolase 2
  • EC 4.2.1 63
  • 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 glycogen storage disease due to muscle beta-enolase deficiency. Among its related pathways are Metabolism and Glycosaminoglycan metabolism. GO annotations related to this gene include protein homodimerization activity and magnesium ion binding.

UniProtKB/Swiss-Prot for ENO3 Gene

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

Gene Wiki entry for ENO3 Gene

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

Genomics for ENO3 Gene

Regulatory Elements for ENO3 Gene

Promoters for ENO3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ENO3 on UCSC Golden Path with GeneCards custom track

Genomic Location for ENO3 Gene

Chromosome:
17
Start:
4,948,092 bp from pter
End:
4,957,131 bp from pter
Size:
9,040 bases
Orientation:
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:
    P13929-ENOB_HUMAN
    Recommended name:
    Beta-enolase
    Protein Accession:
    P13929
    Secondary Accessions:
    • B4DUI6
    • B4DUM6
    • D3DTL2
    • E7ENK8
    • Q96AE2

    Protein attributes for ENO3 Gene

    Size:
    434 amino acids
    Molecular mass:
    46987 Da
    Cofactor:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for ENO3 Gene

Proteomics data for ENO3 Gene at MOPED

Post-translational modifications for ENO3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

Domains & Families for ENO3 Gene

Protein Domains for ENO3 Gene

Suggested Antigen Peptide Sequences for ENO3 Gene

Graphical View of Domain Structure for InterPro Entry

P13929

UniProtKB/Swiss-Prot:

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

No data available for Gene Families for ENO3 Gene

Function for ENO3 Gene

Molecular function for ENO3 Gene

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

Enzyme Numbers (IUBMB) for ENO3 Gene

Gene Ontology (GO) - Molecular Function for ENO3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004634 phosphopyruvate hydratase activity IEA,TAS --
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

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

COMPARTMENTS
Jensen Localization Image for ENO3 Gene COMPARTMENTS Subcellular localization image for ENO3 gene
Compartment Confidence
cytosol 5
extracellular 5
plasma membrane 5
cytoskeleton 2
mitochondrion 2
chloroplast 1

Gene Ontology (GO) - Cellular Components for ENO3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000015 phosphopyruvate hydratase complex IEA --
GO:0005737 cytoplasm IDA --
GO:0016020 membrane IEA --
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:0006006 glucose metabolic process TAS --
GO:0021762 substantia nigra development IEP --
GO:0042493 response to drug IEA --
GO:0044281 small molecule metabolic process TAS --
GO:0061621 canonical glycolysis TAS --
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

(5) Drugs for ENO3 Gene - From: HMDB and DrugBank

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

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Dehydroquinate
  • 3-Dehydroquinic acid
  • 5-Dehydroquinate
  • 5-Dehydroquinic acid
  • Cyclohexan-1,4,5-triol-3-one-1-carboxylic acid
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with ENO3: view

Transcripts for ENO3 Gene

Unigene Clusters for ENO3 Gene

Enolase 3 (beta, muscle):
Representative Sequences:

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: - - -
SP10:
SP11: - -
SP12: -
SP13:

ExUns: 11b ^ 12 ^ 13
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for ENO3 Gene

GeneLoc Exon Structure for
ENO3
ECgene alternative splicing isoforms for
ENO3

Expression for ENO3 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for ENO3 Gene



SOURCE GeneReport for Unigene cluster for ENO3 Gene Hs.224171

mRNA Expression by UniProt/SwissProt for ENO3 Gene

P13929-ENOB_HUMAN
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.
genes like me logo Genes that share expression patterns with ENO3: view

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia ENO3 35
  • 92.32 (n)
  • 97.93 (a)
ENO3 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ENO3 35
  • 90.25 (n)
  • 98.39 (a)
ENO3 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Eno3 35
  • 89.78 (n)
  • 97.7 (a)
Eno3 16
Eno3 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ENO3 35
  • 100 (n)
  • 100 (a)
ENO3 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Eno3 35
  • 90.86 (n)
  • 98.16 (a)
oppossum
(Monodelphis domestica)
Mammalia ENO3 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ENO3 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ENO3 36
  • 92 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii eno3 35
  • 76.77 (n)
  • 85.88 (a)
eno3 36
  • 79 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Eno 37
  • 72 (a)
Eno 36
  • 63 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea enol-1 36
  • 68 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ENO1 36
  • 63 (a)
ManyToMany
ENO2 36
  • 62 (a)
ManyToMany
ERR1 36
  • 59 (a)
ManyToMany
ERR2 36
  • 59 (a)
ManyToMany
ERR3 36
  • 59 (a)
ManyToMany
ENO1 38
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10219 36
  • 73 (a)
OneToMany
Species with no ortholog for ENO3:
  • 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

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

Paralogs for ENO3 Gene

Pseudogenes.org Pseudogenes for ENO3 Gene

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

No data available for Paralogs for ENO3 Gene

Variants for ENO3 Gene

Sequence variations from dbSNP and Humsavar for ENO3 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs238238 - 4,953,081(+) CAACA(A/G)TACTC intron-variant, reference, missense
rs238239 - 4,953,285(+) CGTTG(C/T)GGATC intron-variant, reference, missense
rs121918403 Glycogen storage disease 13 (GSD13) 4,955,097(+) CGGGG(A/C/G)CTCCC reference, missense
VAR_020621 Glycogen storage disease 13 (GSD13)
rs238240 -- 4,953,517(+) CTGGG(C/G)CGGGC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv833347 CNV Loss 17160897
nsv833349 CNV Loss 17160897
nsv907619 CNV Loss 21882294
nsv907620 CNV Loss 21882294
nsv833350 CNV Loss 17160897
nsv907621 CNV Loss 21882294
esv2715561 CNV Deletion 23290073

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)

Relevant External Links for ENO3 Gene

HapMap Linkage Disequilibrium report
ENO3
Human Gene Mutation Database (HGMD)
ENO3

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

Disorders for ENO3 Gene

MalaCards: The human disease database

(6) MalaCards diseases for ENO3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
glycogen storage disease xiii
  • glycogen storage disease type 13
glycogen storage disease due to muscle beta-enolase deficiency
  • gsd due to muscle beta-enolase deficiency
discoid lupus erythematosus
  • lupus erythematosus, discoid
lymphocytic hypophysitis
  • autoimmune hypophysitis
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

UniProtKB/Swiss-Prot

ENOB_HUMAN
  • 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.

Relevant External Links for ENO3

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

No data available for Genatlas for ENO3 Gene

Publications for ENO3 Gene

  1. Nucleotide sequence of a cDNA encoding the human muscle-specific enolase (MSE). (PMID: 2336366) Cali L. … Giallongo A. (Nucleic Acids Res. 1990) 3 4 23 67
  2. Drugs, their targets and the nature and number of drug targets. (PMID: 17016423) Imming P. … Meyer A. (Nat Rev Drug Discov 2006) 25 26
  3. How many drug targets are there? (PMID: 17139284) Overington J.P. … Hopkins A.L. (Nat Rev Drug Discov 2006) 25 26
  4. Characterization of MR-1, a novel myofibrillogenesis regulator in human muscle. (PMID: 15188056) Li T.-B. … Gong L.-M. (Acta Biochim. Biophys. Sin. 2004) 3 23
  5. The Protein Data Bank. (PMID: 10592235) Berman H.M. … Bourne P.E. (Nucleic Acids Res. 2000) 25 26

Products for ENO3 Gene

Sources for ENO3 Gene

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