ENO3
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
ENO3 (HGNC:3354) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
enolase 3
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
No aliases found
%HI
4.38(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.18(Read more about gnomAD LOEUF score)
Cytoband
17p13.2
Genomic Coordinates
GRCh37/hg19: chr17:4853847-4860424 NCBI Ensembl UCSC
GRCh38/hg38: chr17:4948710-4957129 NCBI Ensembl UCSC
MANE Select Transcript
NM_053013.4 ENST00000519602.6 (Read more about MANE Select)
Function
Glycolytic enzyme that catalyzes the conversion of 2- phosphoglycerate to phosphoenolpyruvate. Appears to have a function in striated muscle development and regeneration. {ECO:0000250|UniProtKB:P15429}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-18829
ClinGen Curation ID:
CCID:007071
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • glycogen storage disease due to muscle beta-enolase deficiency Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000017.10) (NC_000017.11)