ENO3 - enolase 3 Gene

Also Known as MSE; GSD13

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2027

About ENO3

Cytogenetic location: 17p13.2 Genomic coordinates (GRCh38): 17:4,948,710-4,957,129 (from NCBI)

This gene has 17 transcripts (splice variants), 201 orthologues, 3 paralogues and is associated with 2 phenotypes. Biased expression in heart (RPKM 88.5), esophagus (RPKM 45.6) and 2 other tissues.

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 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]

ENO3 Products (5)

mRNA	Protein	Name
NM_001193503.2	NP_001180432.1	beta-enolase isoform 2
NM_001374523.1	NP_001361452.1	beta-enolase isoform 1
NM_001374524.1	NP_001361453.1	beta-enolase isoform 3
NM_001976.5	NP_001967.3	beta-enolase isoform 1
NM_053013.4	NP_443739.3	beta-enolase isoform 1

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables protein binding	IPI IPI: Inferred from physical interaction	33961781	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in membrane	IDA IDA: Inferred from direct assay	19433310	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ENO3 Protein Structure

Enolase_N

Enolase_C

0
100
200
300
400
434 a.a.

Protein Preferred Names	Protein Names
beta-enolase	2-phospho-D-glycerate hydrolyase

ENO3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	ENO3	P13929	ENO1	Homo sapiens	P06733	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant ENO3 Proteins

Art. -Nr.	Produktname	Accession	Reinheit
HY-P75732	Enolase 3/ENO3 Protein, Human (His)	P13929-1/AAH17249.1 (M1-K434)	≥ 95%, as determined by reducing SDS-PAGE.

ENO3 Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P83023	ENO3 Antibody (YA2768)	WB, ICC/IF	Human, Mouse, Rat
HY-P83023A	ENO3 Antibody (YA2768)(PBS only)	WB, ICC/IF	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Glycogen Storage Disease Xiii	GSD13 Enolase 3 Deficiency Enolase-Beta Deficiency Glycogen Storage Disease Due To Muscle Beta-Enolase Deficiency Gsd Xiii Glycogen Storage Disease 13 Glycogen Storage Disease Type 13 Gsd Due To Muscle Beta-Enolase Deficiency Gsdxiii Glycogenosis Due To Muscle Beta-Enolase Deficiency Glycogenosis Type 13 Muscle Enolase Deficiency Muscular Enolase Deficiency Glycogenosis Type Xiii Muscle-Specific Enolase-Beta Deficiency Storage Disease, Glycogen, Type 13
Glycogen Storage Disease	Glycogenosis Glycogenoses Gsd Storage Disease, Glycogen Gsd - [Glycogen Storage Disease] Glycogen Thesaurismosis Diffuse Glycogenosis Generalised Glycogen Storage Disease Generalised Glycogenosis Generalised Glycogen Storage Disease Of Infants Glycogen Synthase Deficiency
Fish Allergy	Allergy To Fish
Glycogen Storage Disease Vii	Glycogen Storage Disease Type Vii Muscle Phosphofructokinase Deficiency Tarui Disease GSD7 Pfkm Deficiency Gsd Vii Glycogen Storage Disease, Type Vii Glycogen Storage Disease Type 7 Phosphofructokinase Deficiency Glycogenosis Type Vii Phosphofructokinase Myopathy Glycogenosis 7 Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency Gsd Due To Muscle Phosphofructokinase Deficiency Gsd Type 7 Gsd Type Vii Glycogenosis Due To Muscle Phosphofructokinase Deficiency Glycogenosis Type 7 Glycogen Storage Disease 7 Gsd-Vii Storage Disease, Glycogen, Type Vii
Combined Oxidative Phosphorylation Deficiency 4	COXPD4 Combined Oxidative Phosphorylation Defect Type 4 Combined Oxidative Phosphorylation Deficiency, Type 4
Glycogen Storage Disease V	Mcardle Disease Myophosphorylase Deficiency Glycogen Storage Disease Type V Muscle Glycogen Phosphorylase Deficiency Pygm Deficiency Gsd V Glycogen Storage Disease, Type V Glycogenosis Type V Glycogen Storage Disease Type 5 GSD5 Pygmy Mcardle'S Disease Mcardle Type Glycogen Storage Disease Gsd Type V Pygmy, African Gsdv Gsd 5 Glycogenosis 5 Mcardle Syndrome Muscle Phosphorylase Deficiency Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency Gsd Due To Muscle Glycogen Phosphorylase Deficiency Gsd Type 5 Glycogenosis Due To Muscle Glycogen Phosphorylase Deficiency Glycogenosis Type 5 Glycogen Storage Disease 5 Gsd-V Mcardles Disease Storage Disease, Glycogen, Type V
Primary Cutaneous Amyloidosis	Plca Primary Localized Cutaneous Amyloidosis Familial Primary Localized Cutaneous Amyloidosis Amyloidosis Ix Lichen Amyloidosis Familial Amyloidosis, Primary Cutaneous Pca Amyloidosis 9 Amyloidosis Familial Cutaneous Lichen Fplca Familial Lichen Amyloidosis
Cardiomyopathy, Familial Hypertrophic, 1	Asymmetric Septal Hypertrophy Familial Hypertrophic Cardiomyopathy Hypertrophic Cardiomyopathy 1 CMH1 Hypertrophic Cardiomyopathy 19 CMH Ventricular Hypertrophy, Hereditary Ash Hypertrophic Subaortic Stenosis, Idiopathic Cardiomyopathy, Familial Hypertrophic Cardiomyopathy, Hypertrophic, 1, Digenic Cardiomyopathy, Familial Hypertrophic 1 Hcm Hereditary Ventricular Hypertrophy Idiopathic Hypertrophic Subaortic Stenosis Hypertrophic Cardiomyopathy Cardiomyopathy, Hypertrophic, Familial Cardiomyopathy, Hypertrophic, 1 Familial Asymmetric Septal Hypertrophy Heritable Hypertrophic Cardiomyopathy Fhc Cardiomyopathy, Hypertrophic, Familial, Type 1
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-N3415	Kumatakenin		99.31%	Unkown
HY-RS04380	ENO3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18474	Eno3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24955	Eno3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	ENO3	VGNC	VGNC:72220
Mus musculus	ENO3	MGD	MGI:95395
Rattus norvegicus	ENO3	RGD	RGD:2555
Bos taurus	ENO3	VGNC	VGNC:28498
Canis familiaris	ENO3	VGNC	VGNC:40367
Felis catus	ENO3	VGNC	VGNC:97417
Others	ENO3	NCBI