EIF2AK2 Chromosome 2
Eukaryotic translation initiation factor 2 alpha kinase 2
Upload your DNA to see your personal genotypes for variants in EIF2AK2.
What This Gene Does
The protein encoded by this gene is a serine/threonine protein kinase that is activated by autophosphorylation after binding to dsRNA. The activated form of the encoded protein can phosphorylate translation initiation factor EIF2S1, which in turn inhibits protein synthesis. This protein is also activated by manganese ions and heparin. The encoded protein plays an important role in the innate immune response against multiple DNA and RNA viruses. [provided by RefSeq, Jul 2021]
Gene Info
Gene Group
"Protein phosphatase 1 regulatory subunits|Eukaryotic translation initiation factor 2 alpha kinases"
Locus Type
gene with protein product
Location
2p22.2
Ensembl
ENSG00000055332
Associated Conditions (8)
Inborn genetic diseases
Developmental regression
Global developmental delay
Leukoencephalopathy
developmental delay
and episodic neurologic regression syndrome
Cognitive impairment
Dystonia 33
Key Variants
RS1274964616
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1358240975
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1572996700
Conflicting classifications of pathogenicity
Developmental regression, Global developmental delay, Leukoencephalopathy
Health Risk
RS1573010519
Conflicting classifications of pathogenicity
Cognitive impairment, Leukoencephalopathy, developmental delay
Health Risk
RS1674595991
Conflicting classifications of pathogenicity
Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome
Health Risk
RS1675334390
Conflicting classifications of pathogenicity
Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome
Health Risk
RS757791378
Conflicting classifications of pathogenicity
Dystonia 33, Dystonia 33
Health Risk
RS779362072
Conflicting classifications of pathogenicity
Health Risk
RS779450110
Conflicting classifications of pathogenicity
Health Risk
RS2148703089
Likely pathogenic
Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome
Health Risk
RS2148705154
Likely pathogenic
Dystonia 33, Dystonia 33, Dystonia 33
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1274964616 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1358240975 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1572996700 | Health Risk | Conflicting classifications of pathogenicity | Developmental regression, Global developmental delay, Leukoencephalopathy |
| RS1573010519 | Health Risk | Conflicting classifications of pathogenicity | Cognitive impairment, Leukoencephalopathy, developmental delay |
| RS1674595991 | Health Risk | Conflicting classifications of pathogenicity | Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome |
| RS1675334390 | Health Risk | Conflicting classifications of pathogenicity | Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome |
| RS757791378 | Health Risk | Conflicting classifications of pathogenicity | Dystonia 33, Dystonia 33 |
| RS779362072 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS779450110 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2148703089 | Health Risk | Likely pathogenic | Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome |
| RS2148705154 | Health Risk | Likely pathogenic | Dystonia 33, Dystonia 33, Dystonia 33 |