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 |
|---|---|---|---|
| RS2529177807 | Health Risk | Likely pathogenic | Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia |
| RS2529182214 | Health Risk | Likely pathogenic | — |
| RS2529183133 | Health Risk | Likely pathogenic | Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia |
| RS2529183146 | Health Risk | Likely pathogenic | — |
| RS2529217307 | Health Risk | Likely pathogenic | — |
| RS750939022 | Health Risk | Likely pathogenic | Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia |
| RS766432619 | Health Risk | Likely pathogenic | Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia |
| RS869025179 | Health Risk | Likely pathogenic | Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia |
| RS1178109063 | Health Risk | Pathogenic | Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia |
| RS121908569 | Health Risk | Pathogenic | Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia |
| RS121908570 | Health Risk | Pathogenic | Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia |
| RS1414649675 | Health Risk | Pathogenic | Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia |
| RS1553407942 | Health Risk | Pathogenic | Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia |
| RS1558655052 | Health Risk | Pathogenic | — |
| RS1573396982 | Health Risk | Pathogenic | — |
| RS1674291042 | Health Risk | Pathogenic | — |
| RS1674410575 | Health Risk | Pathogenic | — |
| RS1674463832 | Health Risk | Pathogenic | — |
| RS200307027 | Health Risk | Pathogenic | Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia |
| RS2103993244 | Health Risk | Pathogenic | Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia |
| RS2104410344 | Health Risk | Pathogenic | Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia |
| RS2104414335 | Health Risk | Pathogenic | Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia |
| RS2104429532 | Health Risk | Pathogenic | — |
| RS2104445982 | Health Risk | Pathogenic | — |
| RS2528308360 | Health Risk | Pathogenic | — |
| RS2528308390 | Health Risk | Pathogenic | — |
| RS2528309114 | Health Risk | Pathogenic | — |
| RS2529089802 | Health Risk | Pathogenic | — |
| RS2529098711 | Health Risk | Pathogenic | — |
| RS2529127466 | Health Risk | Pathogenic | — |
| RS2529132935 | Health Risk | Pathogenic | — |
| RS2529133062 | Health Risk | Pathogenic | — |
| RS2529140205 | Health Risk | Pathogenic | — |
| RS2529140255 | Health Risk | Pathogenic | — |
| RS2529148991 | Health Risk | Pathogenic | — |
| RS2529157085 | Health Risk | Pathogenic | — |
| RS2529165492 | Health Risk | Pathogenic | — |
| RS2529165633 | Health Risk | Pathogenic | — |
| RS2529182222 | Health Risk | Pathogenic | — |
| RS754345067 | Health Risk | Pathogenic | — |
| RS755704498 | Health Risk | Pathogenic | — |
| RS758108455 | Health Risk | Pathogenic | — |
| RS762125383 | Health Risk | Pathogenic | — |
| RS797045558 | Health Risk | Pathogenic | Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia |
| RS864621972 | Health Risk | Pathogenic | Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia |
| RS866814797 | Health Risk | Pathogenic | — |
| RS869025178 | Health Risk | Pathogenic | Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia |
| RS1558652941 | Health Risk | Pathogenic/Likely pathogenic | Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia |
| RS1674430442 | Health Risk | Pathogenic/Likely pathogenic | Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia |
| RS2104387177 | Health Risk | Pathogenic/Likely pathogenic | Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia |