EIF2AK3 Chromosome 2
Eukaryotic translation initiation factor 2 alpha kinase 3
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What This Gene Does
The protein encoded by this gene phosphorylates the alpha subunit of eukaryotic translation-initiation factor 2, leading to its inactivation, and thus to a rapid reduction of translational initiation and repression of global protein synthesis. This protein is thought to modulate mitochondrial function. It is a type I membrane protein located in the endoplasmic reticulum (ER), where it is induced by ER stress caused by malfolded proteins. Mutations in this gene are associated with Wolcott-Rallison syndrome. [provided by RefSeq, Sep 2015]
Gene Info
Gene Group
Eukaryotic translation initiation factor 2 alpha kinases
Locus Type
gene with protein product
Location
2p11.2
Ensembl
ENSG00000172071
Associated Conditions (6)
Wolcott-Rallison dysplasia
EIF2AK3-related disorder
Inborn genetic diseases
Connective tissue disorder
Monogenic diabetes
Menkes kinky-hair syndrome
Key Variants
RS1013032001
Conflicting classifications of pathogenicity
Health Risk
RS137927384
Conflicting classifications of pathogenicity
Wolcott-Rallison dysplasia, EIF2AK3-related disorder, Wolcott-Rallison dysplasia
Health Risk
RS141901506
Conflicting classifications of pathogenicity
Wolcott-Rallison dysplasia, Inborn genetic diseases, Wolcott-Rallison dysplasia
Health Risk
RS144057685
Conflicting classifications of pathogenicity
Health Risk
RS145427892
Conflicting classifications of pathogenicity
Wolcott-Rallison dysplasia, Connective tissue disorder, EIF2AK3-related disorder
Health Risk
RS146949180
Conflicting classifications of pathogenicity
Wolcott-Rallison dysplasia, Connective tissue disorder, Wolcott-Rallison dysplasia
Health Risk
RS147298435
Conflicting classifications of pathogenicity
Health Risk
RS147458427
Conflicting classifications of pathogenicity
Wolcott-Rallison dysplasia, Connective tissue disorder, Inborn genetic diseases
Health Risk
RS150314450
Conflicting classifications of pathogenicity
Monogenic diabetes, Wolcott-Rallison dysplasia, Connective tissue disorder
Health Risk
RS1805190
Conflicting classifications of pathogenicity
Connective tissue disorder, Wolcott-Rallison dysplasia, Connective tissue disorder
Health Risk
RS200315616
Conflicting classifications of pathogenicity
Wolcott-Rallison dysplasia, EIF2AK3-related disorder, Wolcott-Rallison dysplasia
Health Risk
RS200991366
Conflicting classifications of pathogenicity
Inborn genetic diseases, Wolcott-Rallison dysplasia, Inborn genetic diseases
Health Risk
All Variants (105)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1013032001 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS137927384 | Health Risk | Conflicting classifications of pathogenicity | Wolcott-Rallison dysplasia, EIF2AK3-related disorder, Wolcott-Rallison dysplasia |
| RS141901506 | Health Risk | Conflicting classifications of pathogenicity | Wolcott-Rallison dysplasia, Inborn genetic diseases, Wolcott-Rallison dysplasia |
| RS144057685 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS145427892 | Health Risk | Conflicting classifications of pathogenicity | Wolcott-Rallison dysplasia, Connective tissue disorder, EIF2AK3-related disorder |
| RS146949180 | Health Risk | Conflicting classifications of pathogenicity | Wolcott-Rallison dysplasia, Connective tissue disorder, Wolcott-Rallison dysplasia |
| RS147298435 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS147458427 | Health Risk | Conflicting classifications of pathogenicity | Wolcott-Rallison dysplasia, Connective tissue disorder, Inborn genetic diseases |
| RS150314450 | Health Risk | Conflicting classifications of pathogenicity | Monogenic diabetes, Wolcott-Rallison dysplasia, Connective tissue disorder |
| RS1805190 | Health Risk | Conflicting classifications of pathogenicity | Connective tissue disorder, Wolcott-Rallison dysplasia, Connective tissue disorder |
| RS200315616 | Health Risk | Conflicting classifications of pathogenicity | Wolcott-Rallison dysplasia, EIF2AK3-related disorder, Wolcott-Rallison dysplasia |
| RS200991366 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Wolcott-Rallison dysplasia, Inborn genetic diseases |
| RS201662849 | Health Risk | Conflicting classifications of pathogenicity | Wolcott-Rallison dysplasia, Inborn genetic diseases, Wolcott-Rallison dysplasia |
| RS2104414509 | Health Risk | Conflicting classifications of pathogenicity | Connective tissue disorder, Connective tissue disorder |
| RS2529086363 | Health Risk | Conflicting classifications of pathogenicity | Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia |
| RS375371096 | Health Risk | Conflicting classifications of pathogenicity | Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia |
| RS529920914 | Health Risk | Conflicting classifications of pathogenicity | Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia |
| RS55791823 | Health Risk | Conflicting classifications of pathogenicity | Wolcott-Rallison dysplasia, Monogenic diabetes, Connective tissue disorder |
| RS56120877 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS747687191 | Health Risk | Conflicting classifications of pathogenicity | Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia |
| RS750573955 | Health Risk | Conflicting classifications of pathogenicity | Connective tissue disorder, Connective tissue disorder |
| RS756618692 | Health Risk | Conflicting classifications of pathogenicity | EIF2AK3-related disorder, Inborn genetic diseases, Wolcott-Rallison dysplasia |
| RS761829897 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS762693700 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS765544171 | Health Risk | Conflicting classifications of pathogenicity | Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia |
| RS779731596 | Health Risk | Conflicting classifications of pathogenicity | Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia |
| RS886042833 | Health Risk | Conflicting classifications of pathogenicity | EIF2AK3-related disorder, Inborn genetic diseases, EIF2AK3-related disorder |
| RS886056416 | Health Risk | Conflicting classifications of pathogenicity | Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia |
| RS984341375 | Health Risk | Conflicting classifications of pathogenicity | Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia |
| RS1192258846 | Health Risk | Likely pathogenic | Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia |
| RS1205989324 | Health Risk | Likely pathogenic | — |
| RS1327996297 | Health Risk | Likely pathogenic | Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia |
| RS1553405795 | Health Risk | Likely pathogenic | Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia |
| RS1674412113 | Health Risk | Likely pathogenic | Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia |
| RS1674549393 | Health Risk | Likely pathogenic | Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia |
| RS1674719462 | Health Risk | Likely pathogenic | Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia |
| RS2528308020 | Health Risk | Likely pathogenic | — |
| RS2528308185 | Health Risk | Likely pathogenic | Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia |
| RS2529097896 | Health Risk | Likely pathogenic | — |
| RS2529098558 | Health Risk | Likely pathogenic | Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia |
| RS2529116929 | Health Risk | Likely pathogenic | Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia |
| RS2529117164 | Health Risk | Likely pathogenic | Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia |
| RS2529117319 | Health Risk | Likely pathogenic | — |
| RS2529126093 | Health Risk | Likely pathogenic | Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia |
| RS2529128780 | Health Risk | Likely pathogenic | Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia |
| RS2529129420 | Health Risk | Likely pathogenic | Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia |
| RS2529140086 | Health Risk | Likely pathogenic | Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia |
| RS2529165321 | Health Risk | Likely pathogenic | Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia |
| RS2529171218 | Health Risk | Likely pathogenic | Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia |
| RS2529171945 | Health Risk | Likely pathogenic | Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia |