Aliases for ENO3 Gene
Aliases for ENO3 Gene
External Ids for ENO3 Gene
- HGNC: 3354
- Entrez Gene: 2027
- Ensembl: ENSG00000108515
- OMIM: 131370
- UniProtKB: P13929
Previous GeneCards Identifiers for ENO3 Gene
- GC17P005273
- GC17P005192
- GC17P004797
- GC17P005055
- GC17P004795
- GC17P004851
Summaries 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.
Additional gene information for ENO3 Gene
- Monarch Initiative
- Search for ENO3 at DataMed
- Search for ENO3 at HumanCyc
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
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
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
Regulatory Element Products
Genomic Locations for ENO3 Gene
Genomic Locations for ENO3 Gene
- chr17:4,948,092-4,957,131
- (GRCh38/hg38)
- Size:
- 9,040 bases
- Orientation:
- Plus strand
- chr17:4,851,387-4,860,426
- (GRCh37/hg19)
- 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:
-
- 17p13.2 by Entrez Gene
- 17p13.2 by HGNC
- 17p13.2 by Ensembl
ENO3 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression for ENO3 Gene
Post-translational modifications for ENO3 Gene
Other Protein References for ENO3 Gene
Antibody Products
- Novus Biologicals Antibodies for ENO3
- Invitrogen Antibodies for ENO3
- GeneTex ENO3 Antibody for ENO3
-
Santa Cruz Biotechnology (SCBT) Antibodies for ENO3
- Sino Biological Antibodies for ENO3
Protein Products
-
OriGene Purified Proteins for ENO3
- Search Origene for MassSpec and Protein Over-expression Lysates for ENO3
- Origene Custom Protein Services for ENO3
- Novus Biologicals proteins for ENO3
- Sino Biological Recombinant Proteins for ENO3
- Browse Sino Biological Cell Lysates
- ProSpec Recombinant Proteins for ENO3
- Search GeneTex for Proteins for ENO3
Assay Products
- antibodies-online: Search results for 3 available ENO3 Elisa Kits ranked by validation data
- Compare Top ENO3 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for ENO3 Gene
Domains & Families for ENO3 Gene
Gene Families for ENO3 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Candidate cardiovascular disease genes
- Disease related genes
- Enzymes
- Plasma proteins
- Potential drug targets
- Predicted intracellular proteins
Protein Domains for ENO3 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for ENO3 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P13929- Family:
-
- Belongs to the enolase family.
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
| 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 | -- |
Phenotypes for ENO3 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for ENO3
-
CRISPR Products
-
OriGene CRISPR knockouts for ENO3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ENO3
- genomics-online: gRNA clones - Search results for available ENO3 gene related products
- Applied Biological Materials CRISPR for ENO3
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ENO3
- GenScript: Design CRISPR guide RNA sequences for ENO3
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ENO3
- Browse OriGene Inhibitory RNA Products For ENO3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ENO3
- genomics-online: shRNA clones - Search results for available ENO3 gene related products
Clone Products
-
OriGene ORF clones in human for ENO3
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ENO3
- VectorBuilder custom plasmid, inducible vectors for ENO3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ENO3
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for ENO3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ENO3
- genomics-online: cdna clones - Search results for available ENO3 gene related products
- orf clones - Search results for available ENO3 gene related products
- Applied Biological Materials Clones for ENO3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines 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}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| cytosol | 5 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
- Cytosol (3)
- Plasma membrane (3)
| 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 | -- |
Pathways & Interactions for ENO3 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Glucose metabolism |
.52
|
.46
|
| 2 | Carbon metabolism | ||
| 3 | Metabolism |
.37
|
|
| 4 | HIF-1 signaling pathway | ||
| 5 | Deadenylation-dependent mRNA decay |
.46
|
|
Pathways by source for ENO3 Gene
1 BioSystems pathway for ENO3 Gene
5 Reactome pathways for ENO3 Gene
6 KEGG pathways for ENO3 Gene
1 GeneGo (Thomson Reuters) pathway for ENO3 Gene
UniProtKB/Swiss-Prot P13929-ENOB_HUMAN
- Pathway: Carbohydrate degradation; glycolysis; pyruvate from D-glyceraldehyde 3-phosphate: step 4/5.
Interacting Proteins for ENO3 Gene
GPS-Prot Interaction Network for ENO3
| 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 | -- |
No data available for SIGNOR curated interactions for ENO3 Gene
Drugs & Compounds for ENO3 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| 3-Dehydroquinate |
|
|
(1) ApexBio Compounds for ENO3 Gene
| Compound | Action | Cas Number |
|---|---|---|
| AP-III-a4 | 1177827-73-4 |
Transcripts for ENO3 Gene
mRNA/cDNA for ENO3 Gene
- (6) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (367) Selected AceView cDNA sequences:
- (17) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000323997 1521 bps (uc002gac.5)
- ENST00000518175 1448 bps (uc059zym.1)
- ENST00000518972 584 bps (uc059zyg.1)
- ENST00000519266 343 bps (uc059zya.1)
- ENST00000519300 523 bps (uc059zyl.1)
Unigene Clusters for ENO3 Gene
CRISPR Products
-
OriGene CRISPR knockouts for ENO3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ENO3
- genomics-online: gRNA clones - Search results for available ENO3 gene related products
- Applied Biological Materials CRISPR for ENO3
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ENO3
- GenScript: Design CRISPR guide RNA sequences for ENO3
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ENO3
- Browse OriGene Inhibitory RNA Products For ENO3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ENO3
- genomics-online: shRNA clones - Search results for available ENO3 gene related products
Clone Products
-
OriGene ORF clones in human for ENO3
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ENO3
- VectorBuilder custom plasmid, inducible vectors for ENO3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ENO3
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for ENO3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ENO3
- genomics-online: cdna clones - Search results for available ENO3 gene related products
- orf clones - Search results for available ENO3 gene related products
- Applied Biological Materials Clones for ENO3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: |
Expression for ENO3 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Neural Tube (Nervous System)
- Lung (Respiratory System)
- Pancreas (Endocrine System)
- Eye (Sensory Organs)
- Adipose (Muscoskeletal System)
-
Prostate (Endocrine System)
-
Thyroid (Endocrine System)
-
Skeletal Muscle (Muscoskeletal System)
-
Esophagus (Gastrointestinal Tract)
-
Liver (Hepatobiliary System)
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).
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:
ENO3SOURCE GeneReport for Unigene cluster for ENO3 Gene:
Hs.224171mRNA 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.
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
Systems:
- skeletal muscle
Primer Products
-
OriGene qPCR primer pairs and template standards for ENO3
-
OriGene qPCR primer pairs for ENO3
- genomics-online: primer clones - Search results for available ENO3 gene related products
Gene Expression 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ENO3 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | ENO3 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Eno3 33 |
|
||
| dog (Canis familiaris) |
Mammalia | ENO3 34 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | ENO3 34 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Eno3 16 34 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | ENO3 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | ENO3 34 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | eno3 34 33 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | Eno 34 35 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | enol-1 34 |
|
OneToMany | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ENO1 36 34 |
|
||
| ENO2 34 |
|
ManyToMany | |||
| ERR2 34 |
|
ManyToMany | |||
| ERR3 34 |
|
ManyToMany | |||
| ERR1 34 |
|
ManyToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.10219 34 |
|
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)
- Aminode:
- Evolutionary constrained regions (ECRs) for ENO3: view image
Paralogs for ENO3 Gene
(4) SIMAP similar genes for ENO3 Gene using alignment to 9 proteins:
- ENOB_HUMAN
- D3DTL4_HUMAN
- E5RG95_HUMAN
- E5RGZ4_HUMAN
- E5RI09_HUMAN
- E5RJH5_HUMAN
- K7EKN2_HUMAN
- K7EP84_HUMAN
- K7EPM1_HUMAN
Pseudogenes.org Pseudogenes for ENO3 Gene
Variants 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ENO3 Gene
Disorders for ENO3 Gene
(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 |
|
|
| fish allergy |
|
|
| glycogen storage disease |
|
|
| discoid lupus erythematosus |
|
|
| coenzyme q10 deficiency disease |
|
|
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.
Additional Disease Information for ENO3
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for ENO3 Gene
Publications for ENO3 Gene
- 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
- 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
- Molecular structure of the human muscle-specific enolase gene (ENO3). (PMID: 1840492) Peshavaria M … Day IN (The Biochemical journal 1991) 3 4 22 58
- 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
- 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
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Human Proteins and Enzymes
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
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- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for ENO3
- Search Origene for MassSpec and Protein Over-expression Lysates for ENO3
- Origene Custom Protein Services for ENO3
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ENO3
- Browse OriGene Inhibitory RNA Products For ENO3
- OriGene qPCR primer pairs and template standards for ENO3
- OriGene qPCR primer pairs for ENO3
- OriGene CRISPR knockouts for ENO3
- OriGene ORF clones in human for ENO3
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For ENO3
- GenScript: Next-day shipping of latest version cDNA ORF clones for ENO3 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for ENO3
- GenScript Custom Assay Services for ENO3
- GenScript Custom overexpressing Cell Line Services for ENO3
- GenScript: Design CRISPR guide RNA sequences for ENO3
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for ENO3
- Sino Biological Human cDNA Clone for ENO3
- Sino Biological Recombinant Proteins for ENO3
- Browse Sino Biological Cell Lysates
- Sino Biological Antibodies for ENO3
- Browse Sino Biological Assays
- Browse Recombinant Proteins
- Browse Antibodies
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for ENO3
- Novus Biologicals proteins for ENO3
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- ProSpec Recombinant Proteins for ENO3
- Invitrogen Antibodies for ENO3
- ApexBio compounds for ENO3
- Cyagen custom Knockout/knockin (KOKI) mouse models for ENO3
- VectorBuilder custom plasmid, inducible vectors for ENO3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ENO3
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for ENO3
- antibodies-online: Search results for 114 available ENO3 Antibodies ranked by validation data
- Compare Top ENO3 Antibodies
- Quality Products:
- antibodies-online: Search results for 3 available ENO3 Elisa Kits ranked by validation data
- Compare Top ENO3 Elisa Kits
- Quality Products:
- antibodies-online: Search results for 17 available ENO3 Proteins ranked by validation data
- Compare Top ENO3 Proteins
- GeneTex ENO3 Antibody for ENO3
- Search GeneTex for Proteins for ENO3
- Santa Cruz Biotechnology (SCBT) Antibodies for ENO3
- Search Santa Cruz Biotechnology (SCBT) for ENO3 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for ENO3
- Horizon Cell Lines for ENO3
- genomics-online: cdna clones - Search results for available ENO3 gene related products
- orf clones - Search results for available ENO3 gene related products
- genomics-online: gRNA clones - Search results for available ENO3 gene related products
- genomics-online: primer clones - Search results for available ENO3 gene related products
- genomics-online: shRNA clones - Search results for available ENO3 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ENO3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ENO3
- GeneCopoeia miRNA 3'UTR Target clone products for ENO3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ENO3
Sources for ENO3 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt