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
- 0.61(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
ClinGen Curation ID:
CCID:007059
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:
- Wolcott-Rallison syndrome Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000002.11)
(NC_000002.12)