ENO3 (enolase 3)

Gene

• Entrez ID: 2027
• Gene name: Enolase 3
• Gene symbol: ENO3
• Synonyms (NCBI Gene): GSD13, MSE
• Chromosome: 17
• Chromosome location: 17p13.2
• Summary: 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 mu

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121918403	G>A,C,T	Pathogenic	Coding sequence variant, missense variant
rs121918404	G>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs778664924	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT963622	hsa-miR-1289	CLIP-seq
MIRT963623	hsa-miR-1299	CLIP-seq
MIRT963624	hsa-miR-1825	CLIP-seq
MIRT963625	hsa-miR-193a-5p	CLIP-seq
MIRT963626	hsa-miR-198	CLIP-seq
MIRT963627	hsa-miR-199a-5p	CLIP-seq
MIRT963628	hsa-miR-199b-5p	CLIP-seq
MIRT963629	hsa-miR-3198	CLIP-seq
MIRT963630	hsa-miR-3661	CLIP-seq
MIRT963631	hsa-miR-4294	CLIP-seq
MIRT963632	hsa-miR-4309	CLIP-seq
MIRT963633	hsa-miR-631	CLIP-seq
MIRT963634	hsa-miR-7	CLIP-seq
MIRT963635	hsa-miR-875-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000015	Component	Phosphopyruvate hydratase complex	IBA
GO:0000015	Component	Phosphopyruvate hydratase complex	IEA
GO:0000287	Function	Magnesium ion binding	IEA
GO:0004634	Function	Phosphopyruvate hydratase activity	IBA
GO:0004634	Function	Phosphopyruvate hydratase activity	IEA
GO:0004634	Function	Phosphopyruvate hydratase activity	TAS	8513787
GO:0005515	Function	Protein binding	IPI	33961781, 35271311
GO:0005615	Component	Extracellular space	HDA	22664934
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0006094	Process	Gluconeogenesis	IEA
GO:0006094	Process	Gluconeogenesis	TAS
GO:0006096	Process	Glycolytic process	IBA
GO:0006096	Process	Glycolytic process	IEA
GO:0016020	Component	Membrane	IDA	19433310
GO:0016829	Function	Lyase activity	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0061621	Process	Canonical glycolysis	IEA
GO:0061621	Process	Canonical glycolysis	TAS
GO:0070062	Component	Extracellular exosome	HDA	23533145

Other IDs

• MIM: 131370
• HGNC: 3354
• e!Ensembl: ENSG00000108515

Protein

• UniProt ID: P13929
• Protein name: Beta-enolase (EC 4.2.1.11) (2-phospho-D-glycerate hydro-lyase) (Enolase 3) (Muscle-specific enolase) (MSE) (Skeletal muscle enolase)
• Protein function: Glycolytic enzyme that catalyzes the conversion of 2-phosphoglycerate to phosphoenolpyruvate. Appears to have a function in striated muscle development and regeneration.
• PDB: 2XSX
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03952	Enolase_N	3 → 134	Enolase, N-terminal domain	Domain
  PF00113	Enolase_C	142 → 432	Enolase, C-terminal TIM barrel domain	Domain

• Tissue specificity: 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.
• Sequence:

  MAMQKIFAREILDSRGNPTVEVDLHTAKGRFRAAVPSGASTGIYEALELRDGDKGRYLGK
  GVLKAVENINNTLGPALLQKKLSVVDQEKVDKFMIELDGTENKSKFGANAILGVSLAVCK
  AGAAEKGVPLYRHIADLAGNPDLILPVPAFNVINGGSHAGNKLAMQEFMILPVGASSFKE
  AMRIGAEVYHHLKGVIKAKYGKDATNVGDEGGFAPNILENNEALELLKTAIQAAGYPDKV
  VIGMDVAASEFYRNGKYDLDFKSPDDPARHITGEKLGELYKSFIKNYPVVSIEDPFDQDD
  WATWTSFLSGVNIQIVGDDLTVTNPKRIAQAVEKKACNCLLLKVNQIGSVTESIQACKLA
  QSNGWGVMVSHRSGETEDTFIADLVVGLCTGQIKTGAPCRSERLAKYNQLMRIEEALGDK
  AIFAGRKFRNPKAK

• Sequence length: 434

Pathways

KEGG:

Glycolysis / Gluconeogenesis
Metabolic pathways
Carbon metabolism
Biosynthesis of amino acids
RNA degradation
HIF-1 signaling pathway
Cytoskeleton in muscle cells

Reactome:

Glycolysis
Gluconeogenesis

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Glycogen storage disease due to muscle beta-enolase deficiency	Pathogenic; Likely pathogenic	rs2151144481, rs2507721405, rs1298530904	RCV001707930 RCV003991771 RCV001172283	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ENO3-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLYCOGEN STORAGE DISEASE XIII	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute myelomonocytic leukemia	Myelomonocytic Leukemia	BEFREE	8090031		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	11836316		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	31697874		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	33226369	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	37650153	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32703926, 38186579	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsies, Partial	Epilepsy	BEFREE	30568004		★☆☆☆☆ Found in Text Mining only
Generalized convulsive epilepsy	Epilepsy with tonic-clonic seizures	BEFREE	30568004		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease	Glycogen Storage Disease	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Glycogen storage disease due to muscle beta-enolase deficiency	Glycogen Storage Disease	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glycogen Storage Disease XIII	Glycogen Storage Disease	ORPHANET_DG	11506403		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease XIII	Glycogen Storage Disease	UNIPROT_DG	11506403		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease XIII	Glycogen Storage Disease	GENOMICS_ENGLAND_DG	25267339		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease XIII	Glycogen Storage Disease	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease XIII	Glycogen Storage Disease	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graft vs Host Disease	Graft-versus-host disease	Pubtator	35401560	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28541412		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	37650153	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	10874210, 31697874	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	8090031		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	31697874		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	30397902		★☆☆☆☆ Found in Text Mining only
Metabolic myopathy	Metabolic Myopathy	BEFREE	25267339		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	31551930		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	19265796	Associate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	28623321		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	28623321	Associate	★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	28448532	Associate	★☆☆☆☆ Found in Text Mining only