• 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
EN2 (HGNC:3343) HGNC Entrez Ensembl OMIM UCSC GeneReviews LOVD LSDB ClinVar
HGNC Name
engrailed homeobox 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
No aliases found
%HI
23.56(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.63(Read more about gnomAD pLI score)
LOEUF
0.63(Read more about gnomAD LOEUF score)
Cytoband
7q36.3
Genomic Coordinates
GRCh37/hg19: chr7:155250824-155257526 NCBI Ensembl UCSC
GRCh38/hg38: chr7:155458129-155464831 NCBI Ensembl UCSC
MANE Select Transcript
NM_001427.4 ENST00000297375.4 (Read more about MANE Select)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-36770
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
08/26/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
PMID 9450876 and 21416596 report an association between deletions encompassing EN2 and clinical features of 7q terminal deletion syndrome, however focal deletions of EN2 have not yet been reported in clinical populations.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000007.13) (NC_000007.14)