• 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
EGR2 (HGNC:3239) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
early growth response 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
KROX20
Alias symbols
No aliases found
%HI
6.85(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.5(Read more about gnomAD pLI score)
LOEUF
0.6(Read more about gnomAD LOEUF score)
Cytoband
10q21.3
Genomic Coordinates
GRCh37/hg19: chr10:64571756-64578927 NCBI Ensembl UCSC
GRCh38/hg38: chr10:62811996-62819167 NCBI Ensembl UCSC
MANE Select Transcript
NM_000399.5 ENST00000242480.4 (Read more about MANE Select)
Function
Sequence-specific DNA-binding transcription factor (PubMed:17717711). Plays a role in hindbrain segmentation by regulating the expression of a subset of homeobox containing genes and in Schwann cell myelination by regulating the expression of genes involved in the formation and maintenance of myelin (By similarity). Binds to two EGR2- consensus sites EGR2A (5'-CTGTAGGAG-3') and EGR2B (5'-ATGTAGGTG-3') in the HOXB3 enhancer and promotes HOXB3 transcriptional activation (By similarity). Binds to s... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-1784
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
11/28/2011

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000010.10) (NC_000010.11)