Metazoan complexes |
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Details of ENO3 gene in Homo sapiens
IDs | |||||||||
---|---|---|---|---|---|---|---|---|---|
Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
| ENO3 | --- | P13929 | ENOB_HUMAN | 2027 | ENSG00000108515 | Beta-enolase | SPROT |
Disease | |||||||||
---|---|---|---|---|---|---|---|---|---|
Disease | OMIM id | ||||||||
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. Note=The disease is caused by mutations affecting the gene represented in this entry. | 612932 |
Phenotypes
Abnormality of circulating enzyme level, Abnormality of circulating protein level, Abnormality of metabolism/homeostasis, Abnormality of muscle physiology, Abnormality of the musculature, Adult onset, Age of onset, All, Autosomal recessive inheritance, Elevated creatine kinase after exercise, Elevated serum creatine phosphokinase, Exercise intolerance, Functional motor problems., Mode of inheritance, Muscle weakness, Myalgia, Onset, Onset and clinical course, Phenotypic abnormality.
Orthologs in other species | |||||||||
---|---|---|---|---|---|---|---|---|---|
M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
Eno3 | Eno | enol-1 | Sp-Eno1 |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
---|---|---|---|---|---|---|---|---|---|
ENO3 | CALR | 1 | ENO3 | CALR | cpx689 | no | yes | no | Known |
PGK1 | ENO3 | 0.989977727 | PGK1 | ENO3 | cpx58 | no | yes | yes | Known |
TAGLN2 | ENO3 | 0.999995231 | TAGLN2 | ENO3 | cpx709 | no | yes | no | Known |
TKT | ENO3 | 0.84414348 | TKT | ENO3 | cpx783 | no | yes | no | Known |
NME1-NME2 | ENO3 | 1 | NME1-NME2 | ENO3 | cpx964 | no | yes | no | Known |
TAGLN | ENO3 | 0.996840539 | TAGLN | ENO3 | cpx714 | no | yes | no | Known |
SOD1 | ENO3 | 0.183780353 | SOD1 | ENO3 | cpx823 | no | yes | no | Known |
PGK2 | ENO3 | 0.970943272 | PGK2 | ENO3 | cpx964 | no | yes | yes | Known |
GPX4 | ENO3 | 0.979245354 | GPX4 | ENO3 | cpx741 | no | yes | no | Known |
GAPDH | ENO3 | 0.7259767 | GAPDH | ENO3 | cpx58 | no | yes | yes | Known |
NME2 | ENO3 | 1 | NME2 | ENO3 | cpx964 | no | yes | no | Known |
HINT1 | ENO3 | 0.945321922 | HINT1 | ENO3 | cpx759 | no | yes | no | Known |
TAGLN3 | ENO3 | 0.999996374 | TAGLN3 | ENO3 | cpx707 | no | yes | no | Known |
ENO3 | ENO2 | 0.075018581 | ENO3 | ENO2 | cpx58 | no | yes | no | Known |
ENO3 | FABP5 | 0.999989244 | ENO3 | FABP5 | cpx712 | no | no | no | Novel |
ENO3 | FKBP1A | 0.588387604 | ENO3 | FKBP1A | cpx787 | no | yes | yes | Known |
ENO3 | P4HB | 0.999999313 | ENO3 | P4HB | cpx964 | no | yes | no | Known |
ENO3 | PGAM1 | 0.986375925 | ENO3 | PGAM1 | cpx58 | no | yes | no | Known |
ENO3 | TPI1 | 0.861454478 | ENO3 | TPI1 | cpx58 | no | no | no | Novel |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
---|---|---|---|---|
PPIB | ENO3 | 0.135531995 | PPIB | ENO3 |
ENO3 | PUS7 | 0.073603577 | ENO3 | PUS7 |
ALDH4A1 | ENO3 | 0.165974383 | ALDH4A1 | ENO3 |
HSD17B10 | ENO3 | 0.632897977 | HSD17B10 | ENO3 |
ENO3 | DUT | 0.091553627 | ENO3 | DUT |
ENO3 | ATP5J | 0.101325312 | ENO3 | ATP5J |
FKBP2 | ENO3 | 0.342765138 | FKBP2 | ENO3 |
ENO3 | TXN | 0.846393595 | ENO3 | TXN |
ENO3 | EEF1A1 | 0.080979396 | ENO3 | EEF1A1 |
ENO3 | HSPE1 | 0.19432758 | ENO3 | HSPE1 |
SOD2 | ENO3 | 0.095945998 | SOD2 | ENO3 |
ENO3 | CAT | 0.248469713 | ENO3 | CAT |
STIP1 | ENO3 | 0.089471295 | STIP1 | ENO3 |
ENO3 | FKBP1B | 0.701632901 | ENO3 | FKBP1B |
ENO3 | AKR1B1 | 0.191708982 | ENO3 | AKR1B1 |