Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ENO3 Gene

Aliases for ENO3 Gene

  • Enolase 3 2 3 4 5
  • Enolase 3 (Beta, Muscle) 2 3
  • Muscle Enriched Enolase 2 3
  • Muscle-Specific Enolase 3 4
  • Skeletal Muscle Enolase 3 4
  • Beta-Enolase 2 3
  • EC 4.2.1.11 4 61
  • MSE 3 4
  • 2-Phospho-D-Glycerate Hydro-Lyase 4
  • 2-Phospho-D-Glycerate Hydrolyase 3
  • Enolase 3, (Beta, Muscle) 2
  • EC 4.2.1 61
  • 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 Lymphocytic Hypophysitis. Among its related pathways are Metabolism and Glucose metabolism. 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

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

Enhancers for ENO3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F005047 1.5 FANTOM5 Ensembl ENCODE 25.4 +99.5 99471 0.8 HDAC1 PKNOX1 SREBF2 ARID4B ZNF335 ZNF366 SCRT2 ZNF207 CREM SMARCA5 CAMTA2 ENO3 SPAG7 ZFP3 PFN1 INCA1 KIF1C USP6 SLC52A1 LOC105371502
GH17F004847 1.5 FANTOM5 Ensembl ENCODE 22.6 -96.8 -96757 7.9 PKNOX1 ZBTB40 RAD21 RFX5 RARA RCOR1 FOS THAP11 EGR2 ZNF263 CHRNE ENO3 ZMYND15 PFN1 ARRB2 C17orf107 RNF167 PLD2 CXCL16 LOC101559451
GH17F005041 1.3 Ensembl ENCODE 25.1 +94.4 94378 1.4 PKNOX1 ARID4B SIN3A YY1 GLIS2 KLF7 FOS DEK PAF1 SP3 SPAG7 ENO3 NUP88 ENSG00000234203 INCA1 KIF1C CAMTA2 ZFP3 PFN1 SLC52A1
GH17F005044 1.1 ENCODE 25.7 +97.2 97162 2.3 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SPAG7 CAMTA2 ENO3 ENSG00000234203 INCA1 KIF1C PFN1 ZFP3 USP6 GP1BA
GH17F004842 1.2 FANTOM5 Ensembl ENCODE 23.3 -103.6 -103592 3.8 KLF1 PKNOX1 HLF EED ZNF341 PBX2 NFE2 PRDM10 ETV6 SPI1 CHRNE ENO3 ARRB2 ZMYND15 CXCL16 C17orf107 PLD2 PSMB6 RPS12P29 LOC101559451
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ENO3 on UCSC Golden Path with GeneCards custom track

Promoters for ENO3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001804596 408 4601 HDGF PKNOX1 ARNT MLX WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2

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

Selected DME Specific Peptides for ENO3 Gene

P13929:
  • TGQIKTG
  • LLLKVNQIG
  • ELLKTAI
  • YPVVSIEDPFDQD
  • VGDDLTV
  • DDLTVTNP
  • DSRGNPT
  • VSLAVCKAGA
  • RIEEALG
  • KTGAPCR
  • GDEGGFAP
  • GRKFRNP
  • EVYHHLK
  • GQIKTGAP
  • AKYNQLMRIE
  • DVAASEF
  • EALELRDGD
  • PSGASTG
  • FIKNYPVVSIEDPFDQ
  • REILDSRG
  • SRGNPTVE
  • EKGVPLY
  • FIADLVVGL
  • IGMDVAAS
  • GKGVLKA
  • QEFMILP
  • LDGTENK
  • RSGETED
  • PTVEVDLHTAKG
  • FGANAIL
  • GANAILGVS
  • RYLGKGV
  • GKYDLDFKSPDD
  • KAGAAEKGVP
  • EAMRIGAEVYH
  • QIVGDDL
  • SHRSGET
  • MIELDGT
  • VTNPKRI
  • NVGDEGG
  • DGTENKS
  • ELRDGDK
  • KYGKDATNVG
  • GVPLYRH
  • LELLKTAI
  • RSERLAK

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:0000287 magnesium ion binding IEA --
GO:0004634 phosphopyruvate hydratase activity IEA,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

Inhibitory RNA Products

Flow Cytometry 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
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

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 IDA 22664934
GO:0005737 cytoplasm IEA,IDA --
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 IEP --
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

(7) Drugs for ENO3 Gene - From: DrugBank, ApexBio, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
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

(5) 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

(1) ApexBio Compounds for ENO3 Gene

Compound Action Cas Number
AP-III-a4 1177827-73-4
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:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and 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, PaxDb, MaxQB, and MOPED for ENO3 Gene



NURSA nuclear receptor signaling pathways regulating expression of ENO3 Gene:

ENO3

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

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
chimpanzee
(Pan troglodytes)
Mammalia ENO3 34 35
  • 100 (n)
cow
(Bos Taurus)
Mammalia ENO3 34 35
  • 92.32 (n)
rat
(Rattus norvegicus)
Mammalia Eno3 34
  • 90.86 (n)
dog
(Canis familiaris)
Mammalia ENO3 34 35
  • 90.25 (n)
oppossum
(Monodelphis domestica)
Mammalia ENO3 35
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Eno3 34 16 35
  • 89.78 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ENO3 35
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ENO3 35
  • 92 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii eno3 34 35
  • 76.77 (n)
fruit fly
(Drosophila melanogaster)
Insecta Eno 36 35
  • 72 (a)
worm
(Caenorhabditis elegans)
Secernentea enol-1 35
  • 68 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ENO1 35 37
  • 63 (a)
ManyToMany
ENO2 35
  • 62 (a)
ManyToMany
ERR1 35
  • 59 (a)
ManyToMany
ERR2 35
  • 59 (a)
ManyToMany
ERR3 35
  • 59 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10219 35
  • 73 (a)
OneToMany
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

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

Paralogs for ENO3 Gene

Paralogs for ENO3 Gene

Pseudogenes.org 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 Sequence Context AA Info Type
rs121918403 Glycogen storage disease 13 (GSD13) [MIM:612932], Pathogenic 4,955,097(+) CGGGG(A/C/G)CTCCC reference, missense
rs121918404 Glycogen storage disease 13 (GSD13) [MIM:612932], Pathogenic 4,956,626(+) CTCTG(A/G)GGAGA reference, missense
rs1008510 -- 4,955,872(+) tctgc(C/T)ctgtc intron-variant
rs1065632 -- 4,949,813(-) CGTCG(A/G)GGACT intron-variant, upstream-variant-2KB
rs1065633 -- 4,949,722(-) CGCTC(G/T)GTGAC intron-variant, upstream-variant-2KB

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

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

Human Gene Mutation Database (HGMD)
ENO3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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
lymphocytic hypophysitis
  • autoimmune hypophysitis
fish allergy
  • allergy to fish
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

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. 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 4 22 64
  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. (Eur. J. Biochem. 1993) 3 4 22 64
  3. Molecular structure of the human muscle-specific enolase gene (ENO3). (PMID: 1840492) Peshavaria M. … Day I.N.M. (Biochem. J. 1991) 3 4 22 64
  4. Nucleotide sequence of a cDNA encoding the human muscle-specific enolase (MSE). (PMID: 2336366) Cali L. … Giallongo A. (Nucleic Acids Res. 1990) 3 4 22 64
  5. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F. … Nebel A. (Mutat. Res. 2010) 3 46 64

Products for ENO3 Gene

Sources for ENO3 Gene

Content
Loading form....