ENO2

enolase 2, the group of Enolases

Basic information

Region (hg38): 12:6913745-6923698

Links

ENSG00000111674NCBI:2026OMIM:131360HGNC:3353Uniprot:P09104AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ENO2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ENO2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
2
clinvar
2
missense
16
clinvar
16
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
1
1
non coding
1
clinvar
1
Total 0 0 16 2 1

Variants in ENO2

This is a list of pathogenic ClinVar variants found in the ENO2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
12-6916426-G-A not specified Uncertain significance (Mar 22, 2023)2521584
12-6916476-C-A not specified Uncertain significance (Apr 23, 2024)3275443
12-6916497-C-T not specified Uncertain significance (Aug 30, 2022)2309347
12-6917050-G-A not specified Uncertain significance (Aug 10, 2021)2228040
12-6917072-A-G not specified Uncertain significance (Jun 07, 2024)2381234
12-6917572-A-C Benign (May 24, 2018)785391
12-6917622-G-A not specified Uncertain significance (Jul 25, 2023)2588586
12-6917679-C-T ENO2-related disorder Likely benign (Feb 26, 2019)3058560
12-6917696-C-T ENO2-related disorder Likely benign (Jun 06, 2019)3043972
12-6918029-T-G not specified Uncertain significance (Oct 03, 2022)2315453
12-6918040-T-C not specified Uncertain significance (Aug 30, 2022)2395798
12-6918043-G-A not specified Uncertain significance (Feb 13, 2024)3088899
12-6918064-A-G not specified Uncertain significance (Jan 29, 2024)3088900
12-6918096-G-A not specified Uncertain significance (Oct 26, 2022)2320821
12-6918142-A-G not specified Uncertain significance (Mar 31, 2024)3275440
12-6919615-G-T not specified Uncertain significance (Jun 29, 2023)2608775
12-6919704-G-A not specified Uncertain significance (Apr 09, 2024)3275441
12-6919704-G-T not specified Uncertain significance (May 25, 2022)2406784
12-6921706-G-A not specified Uncertain significance (Jan 04, 2024)3088902
12-6922106-C-T not specified Uncertain significance (May 11, 2022)2288727
12-6922344-A-G not specified Uncertain significance (Nov 15, 2021)2377473
12-6922366-G-A not specified Uncertain significance (Nov 22, 2022)2407618
12-6922402-G-GGTGA Hereditary breast ovarian cancer syndrome Uncertain significance (Aug 01, 2020)981868

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ENO2protein_codingprotein_codingENST00000535366 119953
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.3840.6161257330151257480.0000596
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.811802630.6860.00001552824
Missense in Polyphen65119.910.542081342
Synonymous0.427971030.9460.00000572883
Loss of Function3.40522.30.2240.00000122249

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001190.000119
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.0003720.000370
European (Non-Finnish)0.00003530.0000352
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Has neurotrophic and neuroprotective properties on a broad spectrum of central nervous system (CNS) neurons. Binds, in a calcium-dependent manner, to cultured neocortical neurons and promotes cell survival (By similarity). {ECO:0000250}.;
Pathway
Glycolysis / Gluconeogenesis - Homo sapiens (human);HIF-1 signaling pathway - Homo sapiens (human);RNA degradation - Homo sapiens (human);Pathways in clear cell renal cell carcinoma;Glycolysis and Gluconeogenesis;Metabolism of carbohydrates;Citrate cycle;Glycolysis Gluconeogenesis;Glycolysis and Gluconeogenesis;TCR;Metabolism;Glycolysis;gluconeogenesis;glycolysis;superpathway of conversion of glucose to acetyl CoA and entry into the TCA cycle;Gluconeogenesis;Glucose metabolism (Consensus)

Recessive Scores

pRec
0.858

Intolerance Scores

loftool
0.523
rvis_EVS
-0.41
rvis_percentile_EVS
26.23

Haploinsufficiency Scores

pHI
0.854
hipred
Y
hipred_score
0.793
ghis
0.597

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
gene_indispensability_pred
E
gene_indispensability_score
0.944

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Eno2
Phenotype
cellular phenotype; craniofacial phenotype; growth/size/body region phenotype; taste/olfaction phenotype; respiratory system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan);

Gene ontology

Biological process
gluconeogenesis;glycolytic process;canonical glycolysis
Cellular component
phosphopyruvate hydratase complex;photoreceptor inner segment;extracellular space;cytosol;plasma membrane;membrane;perikaryon;myelin sheath;extracellular exosome
Molecular function
magnesium ion binding;phosphopyruvate hydratase activity;protein binding