Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 2026
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol ENO2   Gene   UCSC   Ensembl
Aliases HEL-S-279, NSE
Gene name enolase 2
Alternate names gamma-enolase, 2-phospho-D-glycerate hydro-lyase, 2-phospho-D-glycerate hydrolyase, enolase 2 (gamma, neuronal), epididymis secretory protein Li 279, neural enolase, neuron specific gamma enolase, neuron-specific enolase, neuronal enriched enolase, neurone-specifi,
Gene location 12p13.31 (6914449: 6923695)     Exons: 12     NC_000012.12
Gene summary(Entrez) This gene encodes one of the three enolase isoenzymes found in mammals. This isoenzyme, a homodimer, is found in mature neurons and cells of neuronal origin. A switch from alpha enolase to gamma enolase occurs in neural tissue during development in rats and primates. [provided by RefSeq, Jul 2008]
OMIM 131360

Protein Summary

Protein general information P09104  

Name: Gamma enolase (EC 4.2.1.11) (2 phospho D glycerate hydro lyase) (Enolase 2) (Neural enolase) (Neuron specific enolase) (NSE)

Length: 434  Mass: 47,269

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 MSIEKIWAREILDSRGNPTVEVDLYTAKGLFRAAVPSGASTGIYEALELRDGDKQRYLGKGVLKAVDHINSTIAP
ALISSGLSVVEQEKLDNLMLELDGTENKSKFGANAILGVSLAVCKAGAAERELPLYRHIAQLAGNSDLILPVPAF
NVINGGSHAGNKLAMQEFMILPVGAESFRDAMRLGAEVYHTLKGVIKDKYGKDATNVGDEGGFAPNILENSEALE
LVKEAIDKAGYTEKIVIGMDVAASEFYRDGKYDLDFKSPTDPSRYITGDQLGALYQDFVRDYPVVSIEDPFDQDD
WAAWSKFTANVGIQIVGDDLTVTNPKRIERAVEEKACNCLLLKVNQIGSVTEAIQACKLAQENGWGVMVSHRSGE
TEDTFIADLVVGLCTGQIKTGAPCRSERLAKYNQLMRIEEELGDEARFAGHNFRNPSVL
Structural information
Interpro:  IPR000941 IPR034390 IPR020810 IPR029065 IPR020809 IPR020811 IPR029017
Prosite:   PS00164

Pfam:  
PF00113 PF03952
CDD:   cd03313

PDB:  
1TE6 2AKM 2AKZ 3UCC 3UCD 3UJE 3UJF 3UJR 3UJS 4ZA0 4ZCW 5EU9 5IDZ
PDBsum:   1TE6 2AKM 2AKZ 3UCC 3UCD 3UJE 3UJF 3UJR 3UJS 4ZA0 4ZCW 5EU9 5IDZ
MINT:   1367862
STRING:   ENSP00000229277;
Other Databases GeneCards:  ENO2;  Malacards:  ENO2

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000015 phosphopyruvate hydratase
complex
IEA cellular_component
GO:0000287 magnesium ion binding
IEA molecular_function
GO:0001917 photoreceptor inner segme
nt
IEA cellular_component
GO:0004634 phosphopyruvate hydratase
activity
TAS molecular_function
GO:0004634 phosphopyruvate hydratase
activity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005615 extracellular space
IDA cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0006094 gluconeogenesis
TAS biological_process
GO:0043204 perikaryon
IEA cellular_component
GO:0043209 myelin sheath
IEA cellular_component
GO:0061621 canonical glycolysis
TAS biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0000015 phosphopyruvate hydratase
complex
IEA cellular_component
GO:0000287 magnesium ion binding
IEA molecular_function
GO:0001917 photoreceptor inner segme
nt
IEA cellular_component
GO:0004634 phosphopyruvate hydratase
activity
IEA molecular_function
GO:0004634 phosphopyruvate hydratase
activity
IEA molecular_function
GO:0004634 phosphopyruvate hydratase
activity
TAS molecular_function
GO:0004634 phosphopyruvate hydratase
activity
TAS molecular_function
GO:0004634 phosphopyruvate hydratase
activity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005615 extracellular space
IDA cellular_component
GO:0005622 intracellular
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0006094 gluconeogenesis
TAS biological_process
GO:0006096 glycolytic process
IEA biological_process
GO:0006096 glycolytic process
IEA biological_process
GO:0006096 glycolytic process
IEA biological_process
GO:0016020 membrane
IEA cellular_component
GO:0016829 lyase activity
IEA molecular_function
GO:0043025 neuronal cell body
IEA cellular_component
GO:0043204 perikaryon
IEA cellular_component
GO:0043209 myelin sheath
IEA cellular_component
GO:0046872 metal ion binding
IEA molecular_function
GO:0061621 canonical glycolysis
TAS biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0004634 phosphopyruvate hydratase
activity
TAS molecular_function
GO:0004634 phosphopyruvate hydratase
activity
TAS molecular_function
GO:0004634 phosphopyruvate hydratase
activity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005615 extracellular space
IDA cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0006094 gluconeogenesis
TAS biological_process
GO:0061621 canonical glycolysis
TAS biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component

KEGG pathways

hsa01100  Metabolic pathways
hsa04066  HIF-1 signaling pathway
hsa01200  Carbon metabolism
hsa01230  Biosynthesis of amino acids
hsa00010  Glycolysis / Gluconeogenesis
hsa03018  RNA degradation

Diseases

Associated diseases References
Alzheimer's disease PMID: 19204726
Cancer PMID: 19074885
Endometriosis PMID: 19910323
Endometriosis INFBASE19910323
Schizophrenia PMID: 18460190

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
19910323 Endometrio
sis

62 (38 premenop
ausal women wit
h histologicall
y diagnosed ova
rian endometrio
ma or peritonea
l endometriosis
, 24 women with
out endometrios
is)
SYN
NSE
Show abstract