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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ENO3 Gene

protein-coding GIFtS: 69
GCID: GC17P004851

enolase 3 (beta, muscle)

(Previous names: enolase 3, (beta, muscle) )

Explore 15 diseases affiliated with
ENO3 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Enolase 3 (Beta, Muscle)¹ ²		Enolase 3, (Beta, Muscle)¹
Muscle-Specific Enolase² ³		2-Phospho-D-Glycerate Hydrolyase²
Skeletal Muscle Enolase² ³		Beta-Enolase¹
MSE² ³		2-Phospho-D-Glycerate Hydro-Lyase³
EC 4.2.1.11³ ⁸		Enolase 3³
GSD13² ⁵		EC 4.2.1⁸

External Ids:	HGNC: 3354¹	Entrez Gene: 2027²	Ensembl: ENSG00000108515⁷	OMIM: 131370⁵	UniProtKB: P13929³

Export aliases for ENO3 gene to outside databases

Previous GC identifers: GC17P005273 GC17P005192 GC17P004797 GC17P005055 GC17P004795

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ENO3:

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)

UniProtKB/Swiss-Prot: ENOB_HUMAN, P13929

Function: Appears to have a function in striated muscle development and regeneration

Gene Wiki entry for ENO3

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000017.10 NC_018928.1 NT_010718.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ENO3 gene promoter:
E2F-3a E2F E2F-1 E2F-2 NF-kappaB1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ENO3 promoter sequence

Search SABiosciences Chromatin IP Primers for ENO3

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ENO3

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17pter-p11 Ensembl cytogenetic band: 17p13.2 HGNC cytogenetic band: 17pter-p11

ENO3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ENO3 gene location

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17P004851: view genomic region (about GC identifiers)

Start:	4,851,387 bp from pter	End:	4,860,426 bp from pter
Size:	9,040 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ENOB_HUMAN, P13929 (See protein sequence)

Recommended Name: Beta-enolase

Size: 434 amino acids; 46987 Da

Cofactor: Magnesium. Required for catalysis and for stabilizing the dimer

Subunit: Mammalian enolase is composed of 3 isozyme subunits, alpha, beta and gamma, which can form homodimers or

heterodimers which are cell-type and development-specific. Interacts with PNKD

Subcellular location: Cytoplasm. Note=Localized to the Z line. Some colocalization with CKM at M-band (By similarity)

Developmental stage: During ontogenesis, there is a transition from the alpha/alpha homodimer to the alpha/beta

heterodimer in striated muscle cells, and to the alpha/gamma heterodimer in nerve cells

1 PDB 3D structure from and Proteopedia for ENO3:

2XSX (3D)

Secondary accessions: B4DUI6 B4DUM6 D3DTL2 E7ENK8 Q96AE2

Alternative splicing: 3 isoforms: P13929-1 P13929-2 P13929-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ENO3: NX_P13929

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P13929

4/46 DME Specific Peptides for ENO3 (P13929) (see all 46)

TGQIKTG

EKGVPLY

ELLKTAI

GKGVLKA

ENO3 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_001180432.1 NP_001967.3 NP_443739.3

ENSEMBL proteins:

ENSP00000467270 ENSP00000467444 ENSP00000428502 ENSP00000465697 ENSP00000464874

ENSP00000430055 ENSP00000324105 ENSP00000428811 ENSP00000430576 ENSP00000430554

ENSP00000430636 ENSP00000431087

Reactome Protein details: P13929
Human Recombinant Protein Products:

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	ProSpec Recombinant Protein for ENO3
	Uscn Proteins for ENO3

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000015	phosphopyruvate hydratase complex	IEA	--
GO:0005624	membrane fraction	--	--
GO:0005737	cytoplasm	IDA	--
GO:0005829	cytosol	TAS	--

ENO3 for ontologies About GeneDecksing

ENO3 Antibody Products:

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	ThermoFisher Antibody for ENO3

Assay Products for ENO3:

	Browse Kits and Assays available from EMD Millipore
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	Uscn ELISAs and CLIAs for ENO3

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ENO3 for domains About GeneDecksing

4 InterPro domains/families:

IPR020810 Enolase_C

IPR020811 Enolase_N

IPR000941 Enolase

IPR020809 Enolase_CS

Graphical View of Domain Structure for InterPro Entry P13929

ProtoNet protein and cluster: P13929

1 Blocks protein family: IPB000941 Enolase

UniProtKB/Swiss-Prot: ENOB_HUMAN, P13929

Similarity: Belongs to the enolase family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: ENOB_HUMAN, P13929

Function: Appears to have a function in striated muscle development and regeneration

Catalytic activity: 2-phospho-D-glycerate = phosphoenolpyruvate + H(2)O

Genatlas biochemistry entry for ENO3:

enolase 3,beta subunit,muscle (2-phospho-D-glycerate hydratase),glycolysis,energy pathway

Enzyme Numbers (IUBMB): EC 4.2.1.11¹ ² EC 4.2.1²

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		hsa-miR-593* hsa-miR-205*
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ENO3

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000287	magnesium ion binding	IEA	--
GO:0004634	phosphopyruvate hydratase activity	IEA	--
GO:0042803	protein homodimerization activity	--	--
GO:0046982	protein heterodimerization activity	--	--

ENO3 for ontologies About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Glycolysis and gluconeogenesis (short map)

	Glycolysis and gluconeogenesis (short map)	1.00			Glycolysis and Gluconeogenesis	0.60
	Glycolysis and gluconeogenesis (short map)	0.97			Glycolysis / Gluconeogenesis	0.41

Glucose metabolism

	Glucose metabolism	1.00			Glycolysis	0.44
	Gluconeogenesis	0.50

Metabolism

Metabolism

1.00

Metabolic pathways

0.38

Deadenylation-dependent mRNA decay

RNA degradation

0.50

MPS IIIC - Sanfilippo syndrome C

Metabolism of carbohydrates

0.47

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for ENO3

Glycolysis and gluconeogenesis (short map)

1 GeneGo (Thomson Reuters) Pathway for ENO3

Glycolysis and gluconeogenesis (short map)

1 BioSystems Pathway for ENO3

Glycolysis and Gluconeogenesis

5 Reactome Pathways for ENO3

	Gluconeogenesis
	Metabolism of carbohydrates
	Metabolism
	Glucose metabolism
	Glycolysis

3 Kegg Pathways (Kegg details for ENO3):

	Glycolysis / Gluconeogenesis
	Metabolic pathways
	RNA degradation

UniProtKB/Swiss-Prot: ENOB_HUMAN, P13929

Pathway: Carbohydrate degradation; glycolysis; pyruvate from D-glyceraldehyde 3-phosphate: step 4/5

ENO3 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for ENO3

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/95 Interacting proteins for ENO3 (P13929³ ENSP00000324105⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 95)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
EEF2	P13639³, ENSP00000307940⁴	I2D: score=2 STRING: ENSP00000307940
PGAM2	P15259³, ENSP00000297283⁴	I2D: score=1 STRING: ENSP00000297283
PKM	P14618³, ENSP00000320171⁴	I2D: score=1 STRING: ENSP00000320171
TPI1	P60174³, ENSP00000379933⁴	I2D: score=1 STRING: ENSP00000379933
TRIM63	Q969Q1³, ENSP00000363390⁴	I2D: score=1 STRING: ENSP00000363390

About this table

Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005975	carbohydrate metabolic process	TAS	--
GO:0006006	glucose metabolic process	TAS	--
GO:0006094	gluconeogenesis	TAS	--
GO:0006096	glycolysis	TAS	--
GO:0007568	aging	--	--

ENO3 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

ENO3 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ENO3

5 HMDB Compounds for ENO3 About this table

Compound	Synonyms	CAS #	PubMed Ids
2-Phospho-D-glyceric acid	2-Phospho-D-glycerate (see all 7)	--	--
3-Dehydroquinate	3-Dehydroquinic acid (see all 4)	--	--
Magnesium	Magnesium (see all 2)	7439-95-4	--
Phosphoenolpyruvic acid	2-hydroxy-Acrylic acid dihydrogen phosphate (see all 6)	138-08-9	--
Water	Dihydrogen oxide (see all 2)	7732-18-5	--

4 DrugBank Compounds for ENO3 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
2-Phospho-D-Glyceric Acid	--	--	target	--	17139284 17016423 10592235
2-Phosphoglycolic Acid	--	13147-57-4	target	--	17139284 17016423 10592235
Phosphoenolpyruvate	--	138-08-9	target	--	17139284 17016423 10592235
Phosphonoacetohydroxamic Acid	--	--	target	--	17139284 17016423 10592235

4 Novoseek chemical compound relationships for ENO3 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
2-phosphoglycerate	91.3	2	10657248 (1)
creatinine	25.4	10	10657248 (2), 12855922 (2), 9370460 (2), 1632183 (1) (see all 5)
glycogen	24.5	1	1632183 (1)
lactate	16.4	2	18421897 (1), 12149506 (1)

Search CenterWatch for drugs/clinical trials and news about ENO3 / ENOB

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ENO3 gene (3 alternative transcripts):

NM_001193503.1 NM_001976.4 NM_053013.3

Unigene Cluster for ENO3:

Enolase 3 (beta, muscle)

Hs.224171 [show with all ESTs]

Unigene Representative Sequence: NM_001976

18 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000519266 ENST00000520221 ENST00000522798 ENST00000522301 ENST00000521811

ENST00000519602 ENST00000323997(uc002gab.4 uc002gac.4 uc010vss.2 uc010vst.2)

ENST00000518972 ENST00000571235 ENST00000519834 ENST00000522249 ENST00000517627

ENST00000521659(uc010vsr.2) ENST00000519584 ENST00000519300 ENST00000518175

ENST00000522425 ENST00000522954

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		hsa-miR-593* hsa-miR-205*
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Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ENO3

Additional cDNA sequence:

AK300662.1 AK300673.1 AK300709.1 AK309864.1 AL359213.1 BC017249.2 X16504.1 X51957.1

24/32 DOTS entries (see all 32):

DT.80101024 DT.92446803 DT.100819433 DT.95356673 DT.120891279 DT.75191163 DT.120891214 DT.120890922

DT.120890966 DT.119805 DT.100819435 DT.120890995 DT.120891007 DT.99990617 DT.119804 DT.70104171

DT.95356665 DT.120890945 DT.120891232 DT.101958727 DT.101979431 DT.120891205 DT.95356663 DT.95356666

24/367 AceView cDNA sequences (see all 367):

F28623 F24774 BQ651397 N85183 F26999 BM709983 CF552148 F26033

X51957 F27693 BE269717 T85650 F19370 BE250985 BQ643719 F35554

NM_053013 CF552956 F31556 AJ346009 F30471 F27216 F19703 F27303

GeneLoc Exon Structure

5/13 Alternative Splicing Database (ASD) splice patterns (SP) for ENO3 (see all 13) About this scheme

ExUns:	1	^	2a	·	2b	·	2c	·	2d	·	2e	^	3a	·	3b	·	3c	^	4	^	5a	·	5b	^	6	^	7a	·	7b	·	7c	^	8a	·	8b	·	8c	^	9a	·	9b	·	9c	^	10a	·	10b	·	10c	^	11a	·
SP1:											-		-				-						-								-												-								-
SP2:													-				-						-								-
SP3:			-		-		-		-		-		-				-						-
SP4:											-		-				-						-
SP5:																	-						-								-

ExUns:	11b	^	12	^	13
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for ENO3

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ENO3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGGATCGAGG

About this image

ENO3 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Heart

Endocardium

Cushion Mesenchymal Cells

Endocardium

Adipose

Interscapular Brown Adipose Depot

Adipose

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See ENO3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ENO3

SOURCE GeneReport for Unigene cluster: Hs.224171

UniProtKB/Swiss-Prot: ENOB_HUMAN, P13929

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

SABiosciences Expression via Pathway-Focused PCR Array including ENO3:

Glucose Metabolism in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ENO3

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the last universal common ancestor (LUCA).

Orthologs for ENO3 gene from 8/33 species (see all 33) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
lizard (Anolis carolinensis)	Reptilia	ENO3⁶ --	--	92(a) 87(a)	1 ↔ 1 possible ortholog	AAWZ02041413(3002-5446) AAWZ02039863(3182-6736)
African clawed frog (Xenopus laevis)	Amphibia	BC045082.1²	--	82.94(n)		BC045082.1
zebrafish (Danio rerio)	Actinopterygii	eno3¹	enolase 3, (beta, muscle)	76.77(n) 85.88(a)		378963 NM_214723.2 NP_999888.1
fruit fly (Drosophila melanogaster)	Insecta	Eno³	glycolysis phosphopyruvate hydratase	72(a)		22B1 --
worm (Caenorhabditis elegans)	Secernentea	enol-1⁶	Enolase	68(a)	1 → many	II(8930923-8933737)
thale cress (Arabidopsis thaliana)	eudicotyledons	LOS2⁶ ENO1⁶ (see all 3)	enolase 1 (see all 3)	69(a) 61(a) (see all 3)	many ↔ many many ↔ many (see all 3)	2(15320756-15323869) 1(27839184-27841939)
rice (Oryza sativa)	Liliopsida	-- -- (see all 5)	enolase, putative, expressed (see all 5)	68(a) 68(a) (see all 5)	many ↔ many many ↔ many (see all 5)	3(7846930-7851761) 6(1930297-1935381)
E. coli (Escherichia coli)	Gamma proteobacteria	eno⁶	enolase	54(a)	1 → many	Chromosome(2904665-2905963)

ENSEMBL Gene Tree for ENO3 (if available)
TreeFam Gene Tree for ENO3 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for ENO3 gene

ENO2² ENO1² ENO4²

2 SIMAP similar genes for ENO3 using alignment to 10 protein entries: ENOB_HUMAN (see all proteins):

ENO1 ENO2

ENO3 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for ENO3
PGOHUM00000239994

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 17 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121918403^1,2	C,	pathogenic	4745982(+)	`CGGGGG/ACTCCC`	6	/D /G	mis¹		1		NA	4550
rs121918404^1,2	C	pathogenic	4747489(+)	`CTCTGG/AGGAGA`	6	/E /G	mis¹		1		NA	4552
rs113676037^1,2	C,	--	4740604(+)	`GGGGTC/TACCGA`	3	--	us2k¹		0	--	--	--	--
rs1065633^1,2	C,F,H,	--	4740607(-)	`CGCTCG/TGTGAC`	3	--	us2k¹		7		MN NS NA WA	802
rs79435236^1,2	F,	--	4741170(+)	`CTCCCC/TGCAGT`	3	--	us2k¹		1		WA	118
rs76811485^1,2		--	4741520(+)	`GGTGAG/CACCCT`	3	--	us2k¹		1		WA	118
rs73343373^1,2	C,	--	4741982(+)	`AATGCG/ACAGCC`	3	--	ut5¹		2		WA	120
rs11310549^1,2	C	--	4743228(+)	`GCTAAT/-TTTTT`	3	--	int¹ trp³		1		NA	2
rs112718881^1,2	C,	--	4743414(+)	`GGTGTC/TAGCCA`	3	--	int¹		1		NA	2
rs77592115^1,2	F,	--	4744056(+)	`CCAGAC/GAGGCC`	3	--	int¹		1		WA	118

HapMap Linkage Disequilibrium report for ENO3 (4851387 - 4860426 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for ENO3
2 CNVs: 4987 4986
Human Gene Mutation Database (HGMD): ENO3

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ENO3

DNA2.0 Custom Variant and Variant Library Synthesis for ENO3

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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ENO3 for disorders           About GeneDecksing

OMIM gene information: 131370
OMIM disorders: 612932
UniProtKB/Swiss-Prot: ENOB_HUMAN, P13929

Defects in ENO3 are the cause of glycogen storage disease type 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

15 diseases for ENO3: About MalaCards

glycogen storage disease glycogen storage disease type 13 creatine phosphokinase enolase deficiency

lymphocytic hypophysitis muscle disorders metabolic disorders lupus erythematosus

myopathy pneumonia hypoxia tuberculosis

malaria neuronitis mycobacterium tuberculosis

1 disease from the University of Copenhagen DISEASES database for ENO3:

Coenzyme Q10 deficiency disease

1 Novoseek disease relationship for ENO3 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
tumors	0	1	15717328 (1)

Human Genome Epidemiology (HuGE) Navigator: ENO3 (2 documents)

Export disorders for ENO3 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for ENO3 gene, integrated from 9 sources (see all 64):
(articles sorted by number of sources associating them with ENO3)

Utopia: connect your pdf to the dynamic
world of online information

Nucleotide sequence of a cDNA encoding the human muscle-specific enolase (MSE). (PubMed id 2336366)^{1, 2, 9} Cali L.... Giallongo A. (1990)
Structural features of the human gene for muscle-specific enolase. Differential splicing in the 5'-untranslated sequence generates two forms of mRNA. (PubMed id 8513787)^{1, 2, 9} Giallongo A.... Feo S. (1993)
Molecular structure of the human muscle-specific enolase gene (ENO3). (PubMed id 1840492)^{1, 2, 9} Peshavaria M. and Day I.N.M. (1991)
Characterization of MR-1, a novel myofibrillogenesis regulator in human muscle. (PubMed id 15188056)^{1, 2, 9} Li T.-B....Gong L.-M. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Structure of human muscle (beta) enolase mRNA and protein deduced from a genomic clone. (PubMed id 2587223)^{1, 2} Peshavaria M.... Day I.N.M. (1989)
Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis. (PubMed id 11506403)^{2, 9} Comi G.P.... Bresolin N. (2001)
A census of human soluble protein complexes. (PubMed id 22939629)¹ Havugimana P.C....Emili A. (2012)
Shotgun proteomics and network analysis of ubiquitin-r elated proteins from human breast carcinoma epithelial cells. (PubMed id 21853274)¹ Zhou J....Liang S. (2012)
Initial characterization of the human central proteome. (PubMed id 21269460)² Burkard T.R.... Colinge J. (2011)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 2027	HGNC: 3354	AceView: ENO3	Ensembl:ENSG00000108515	euGenes: HUgn2027
ECgene: ENO3	Kegg: 2027	H-InvDB: ENO3

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for ENO3	Pharmacogenomics, SNPs, Pathways

Intellectual Property for ENO3 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for ENO3 gene:
Search GeneIP for patents involving ENO3

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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enolase 3 (beta, muscle)

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ENO3 Gene

enolase 3 (beta, muscle)

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