EN2 |
- 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)