Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2027
Gene name Gene Name - the full gene name approved by the HGNC.	Enolase 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ENO3
Synonyms (NCBI Gene) Gene synonyms aliases	GSD13, MSE
Disease Acronyms (UniProt) Disease acronyms from UniProt database	GSD13
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17p13.2
Summary Summary of gene provided in NCBI Entrez 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 mu

Show/Hide all(3)

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

Show/Hide all(14)

miRTarBase ID	miRNA	Experiments
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

Show/Hide all(18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000015	Component	Phosphopyruvate hydratase complex	IBA	21873635
GO:0000287	Function	Magnesium ion binding	IEA
GO:0004634	Function	Phosphopyruvate hydratase activity	IBA	21873635
GO:0005615	Component	Extracellular space	HDA	22664934
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0006094	Process	Gluconeogenesis	TAS
GO:0006096	Process	Glycolytic process	IBA	21873635
GO:0007568	Process	Aging	IEA
GO:0016020	Component	Membrane	IDA	19433310
GO:0032889	Process	Regulation of vacuole fusion, non-autophagic	IBA	21873635
GO:0042493	Process	Response to drug	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0043403	Process	Skeletal muscle tissue regeneration	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0061621	Process	Canonical glycolysis	TAS
GO:0070062	Component	Extracellular exosome	HDA	23533145

MIM	HGNC	e!Ensembl
131370	3354	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

Interactions

View interactions

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

Show/Hide Causal Diseases (1)

Disease term	Disease name	dbSNP ID	References
Causal
Glycogen storage disease	Glycogen Storage Disease, Glycogen Storage Disease XIII, Glycogen storage disease due to muscle beta-enolase deficiency	rs10250779, rs387906244, rs113994126, rs113994129, rs113994134, rs369973784, rs199922945, rs118203964, rs113994132, rs387906246, rs113994128, rs267606639, rs267606640, rs755419857, rs895690691 View all (721 more)	11506403, 25267339

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Diabetes	Diabetes			GWAS

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text Mining
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

ENO3 (enolase 3)