ENO2

enolase 2, the group of Enolases

Basic information

Region (hg38): 12:6913744-6923698

Links

ENSG00000111674 ∙ NCBI:2026 ∙ OMIM:131360 ∙ HGNC:3353 ∙ Uniprot:P09104 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

• Inborn genetic diseases (13 variants)
• not provided (1 variants)
• Hereditary breast ovarian cancer syndrome (1 variants)

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						0
missense			13			13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region			1			1
non coding					1	1
Total	0	0	13	0	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)
12-6916497-C-T		not specified	Uncertain significance (Aug 30, 2022)
12-6917050-G-A		not specified	Uncertain significance (Aug 10, 2021)
12-6917072-A-G		not specified	Uncertain significance (Jan 04, 2022)
12-6917572-A-C			Benign (May 24, 2018)
12-6917622-G-A		not specified	Uncertain significance (Jul 25, 2023)
12-6917679-C-T		ENO2-related disorder	Likely benign (Feb 26, 2019)
12-6917696-C-T		ENO2-related disorder	Likely benign (Jun 06, 2019)
12-6918029-T-G		not specified	Uncertain significance (Oct 03, 2022)
12-6918040-T-C		not specified	Uncertain significance (Aug 30, 2022)
12-6918043-G-A		not specified	Uncertain significance (Feb 13, 2024)
12-6918064-A-G		not specified	Uncertain significance (Jan 29, 2024)
12-6918096-G-A		not specified	Uncertain significance (Oct 26, 2022)
12-6919615-G-T		not specified	Uncertain significance (Jun 29, 2023)
12-6919704-G-T		not specified	Uncertain significance (May 25, 2022)
12-6921706-G-A		not specified	Uncertain significance (Jan 04, 2024)
12-6922106-C-T		not specified	Uncertain significance (May 11, 2022)
12-6922344-A-G		not specified	Uncertain significance (Nov 15, 2021)
12-6922366-G-A		not specified	Uncertain significance (Nov 22, 2022)
12-6922402-G-GGTGA		Hereditary breast ovarian cancer syndrome	Uncertain significance (Aug 01, 2020)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ENO2	protein_coding	protein_coding	ENST00000535366	11	9953

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.384	0.616	125733	0	15	125748	0.0000596

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.81	180	263	0.686	0.0000155	2824
Missense in Polyphen		65	119.91	0.54208		1342
Synonymous	0.427	97	103	0.946	0.00000572	883
Loss of Function	3.40	5	22.3	0.224	0.00000122	249

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000119	0.000119
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.000372	0.000370
European (Non-Finnish)	0.0000353	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

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
• gene_indispensability_pred: E
• gene_indispensability_score: 0.944

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

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