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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Glycogen storage disease due to muscle beta-enolase deficiency	Pathogenic; Likely pathogenic	rs2151144481, rs2507721405, rs1298530904	RCV001707930 RCV003991771 RCV001172283

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
ENO3-related disorder	Uncertain significance; Likely benign; Benign	rs925086158, rs753695984, rs370699915, rs2507715778, rs1233977786, rs369366731, rs143945974, rs111926990, rs35119507, rs567523833	RCV003404077 RCV003906481 RCV003896245 RCV003926433 RCV004756433 RCV003966479 RCV003912344 RCV003912759 RCV003905416 RCV003945521
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	rs151153333	RCV005869306
Malignant tumor of esophagus	Uncertain significance	rs560867570	RCV005894650
Uveal melanoma	Benign; Likely benign	rs151153333	RCV005869305

Associations from Text Mining
Disease Name	Relationship Type	References
Carcinoma Pancreatic Ductal	Associate	33226369
Colonic Neoplasms	Associate	37650153
Colorectal Neoplasms	Associate	32703926, 38186579
Graft vs Host Disease	Associate	35401560
Hypoxia	Associate	37650153
Lung Neoplasms	Associate	10874210, 31697874
Lymphoma Large B Cell Diffuse	Associate	32219808
Neoplasms	Associate	28623321
Obesity	Associate	19265796
Periodontitis	Associate	28623321
Small Cell Lung Carcinoma	Associate	28448532
Weight Loss	Associate	19265796