EIF2AK3

  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
EIF2AK3 (HGNC:3255) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
eukaryotic translation initiation factor 2 alpha kinase 3
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
PEK, PERK
%HI
4.63(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.45(Read more about gnomAD LOEUF score)
Cytoband
2p11.2
Genomic Coordinates
GRCh37/hg19: chr2:88856259-88926982 NCBI Ensembl UCSC
GRCh38/hg38: chr2:88556741-88628145 NCBI Ensembl UCSC
MANE Select Transcript
NM_004836.7 ENST00000303236.9 (Read more about MANE Select)
Function
Metabolic-stress sensing protein kinase that phosphorylates the alpha subunit of eukaryotic translation initiation factor 2 (EIF2S1/eIF-2-alpha) in response to various stress conditions. Key activator of the integrated stress response (ISR) required for adaptation to various stress, such as unfolded protein response (UPR) and low amino acid availability (By similarity). EIF2S1/eIF-2-alpha phosphorylation in response to stress converts EIF2S1/eIF-2-alpha in a global protein synthesis inhibitor, l... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-22988
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000002.11) (NC_000002.12)