• Gene id: 2026

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 (6914579: 6923696)     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 a
• 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: 47269
  • 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  IPR036849  IPR029017  IPR020810  IPR020809   IPR020811  
  • Prosite: PS00164
  • CDD: cd03313
  • PDB: 1TE6 2AKM 2AKZ 3UCC 3UCD 3UJE 3UJF 3UJR 3UJS 4ZA0 4ZCW 5EU9 5IDZ 5TD9 5TIJ
  • PDBsum: 1TE6 2AKM 2AKZ 3UCC 3UCD 3UJE 3UJF 3UJR 3UJS 4ZA0 4ZCW 5EU9 5IDZ 5TD9 5TIJ
  • STRING: ENSP00000437402
• Other Databases: GeneCards:  ENO2  Malacards:  ENO2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004634	phosphopyruvate hydratase activity	IBA	molecular function
GO:0006096	glycolytic process	IBA	biological process
GO:0000015	phosphopyruvate hydratase complex	IBA	cellular component
GO:0032889	regulation of vacuole fusion, non-autophagic	IBA	biological process
GO:0000015	phosphopyruvate hydratase complex	IEA	cellular component
GO:0000287	magnesium ion binding	IEA	molecular function
GO:0004634	phosphopyruvate hydratase activity	IEA	molecular function
GO:0006096	glycolytic process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016829	lyase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006096	glycolytic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0004634	phosphopyruvate hydratase activity	TAS	molecular function
GO:0004634	phosphopyruvate hydratase activity	IEA	molecular function
GO:0061621	canonical glycolysis	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006094	gluconeogenesis	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0043204	perikaryon	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0001917	photoreceptor inner segment	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0006096	glycolytic process	IEA	biological process
GO:0006096	glycolytic process	ISS	biological process
GO:0004634	phosphopyruvate hydratase activity	ISS	molecular function
GO:0016020	membrane	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

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

Diseases

Associated diseases	References
Prostate cancer	PMID:15239127
Hypertension	PMID:21130083
urinary bladder cancer	PMID:17951193
migraine without aura	PMID:21293918
neuroendocrine carcinoma	PMID:15010880
Breast carcinoma	PMID:16608642
Brain disease	PMID:20847541
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881