EIF2AK4 Chromosome 15
Eukaryotic translation initiation factor 2 alpha kinase 4
Upload your DNA to see your personal genotypes for variants in EIF2AK4.
What This Gene Does
This gene encodes a member of a family of kinases that phosphorylate the alpha subunit of eukaryotic translation initiation factor-2 (EIF2), resulting in the downregulaton of protein synthesis. The encoded protein responds to amino acid deprivation by binding uncharged transfer RNAs. It may also be activated by glucose deprivation and viral infection. Mutations in this gene have been found in individuals suffering from autosomal recessive pulmonary venoocclusive-disease-2. [provided by RefSeq, Mar 2014]
Gene Info
Gene Group
Eukaryotic translation initiation factor 2 alpha kinases
Locus Type
gene with protein product
Location
15q15.1
Ensembl
ENSG00000128829
Associated Conditions (5)
Familial pulmonary capillary hemangiomatosis
Inborn genetic diseases
Pulmonary venoocclusive disease 1
EIF2AK4-related disorder
Pulmonary arterial hypertension
Key Variants
RS144332775
Conflicting classifications of pathogenicity
Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis
Health Risk
RS199807868
Conflicting classifications of pathogenicity
Health Risk
RS201056702
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS34439704
Conflicting classifications of pathogenicity
Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis
Health Risk
RS367610920
Conflicting classifications of pathogenicity
Inborn genetic diseases, Familial pulmonary capillary hemangiomatosis, Inborn genetic diseases
Health Risk
RS375593874
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS767557391
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1159906680
Likely pathogenic
Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis
Health Risk
RS1291600097
Likely pathogenic
Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis
Health Risk
RS1327297003
Likely pathogenic
Pulmonary venoocclusive disease 1, Pulmonary venoocclusive disease 1
Health Risk
RS1555417104
Likely pathogenic
Health Risk
RS1595402535
Likely pathogenic
Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis
Health Risk
All Variants (71)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144332775 | Health Risk | Conflicting classifications of pathogenicity | Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis |
| RS199807868 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201056702 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS34439704 | Health Risk | Conflicting classifications of pathogenicity | Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis |
| RS367610920 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Familial pulmonary capillary hemangiomatosis, Inborn genetic diseases |
| RS375593874 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS767557391 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1159906680 | Health Risk | Likely pathogenic | Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis |
| RS1291600097 | Health Risk | Likely pathogenic | Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis |
| RS1327297003 | Health Risk | Likely pathogenic | Pulmonary venoocclusive disease 1, Pulmonary venoocclusive disease 1 |
| RS1555417104 | Health Risk | Likely pathogenic | — |
| RS1595402535 | Health Risk | Likely pathogenic | Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis |
| RS1595403854 | Health Risk | Likely pathogenic | Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis |
| RS1595414835 | Health Risk | Likely pathogenic | Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis |
| RS1595418005 | Health Risk | Likely pathogenic | Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis |
| RS1595431276 | Health Risk | Likely pathogenic | Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis |
| RS1595552181 | Health Risk | Likely pathogenic | Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis |
| RS2504537554 | Health Risk | Likely pathogenic | EIF2AK4-related disorder, EIF2AK4-related disorder |
| RS2504564381 | Health Risk | Likely pathogenic | EIF2AK4-related disorder, EIF2AK4-related disorder |
| RS2504573137 | Health Risk | Likely pathogenic | Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis |
| RS371276330 | Health Risk | Likely pathogenic | Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis |
| RS587777106 | Health Risk | Likely pathogenic | Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis |
| RS756315327 | Health Risk | Likely pathogenic | Pulmonary arterial hypertension, Pulmonary arterial hypertension |
| RS767131900 | Health Risk | Likely pathogenic | Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis |
| RS771359303 | Health Risk | Likely pathogenic | Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis |
| RS1085307439 | Health Risk | Pathogenic | Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis |
| RS1085307441 | Health Risk | Pathogenic | Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis |
| RS1085307442 | Health Risk | Pathogenic | Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis |
| RS1085307443 | Health Risk | Pathogenic | Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis |
| RS1085307444 | Health Risk | Pathogenic | Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis |
| RS1085307445 | Health Risk | Pathogenic | Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis |
| RS1165646203 | Health Risk | Pathogenic | — |
| RS1181863323 | Health Risk | Pathogenic | Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis |
| RS1199542196 | Health Risk | Pathogenic | — |
| RS1226609590 | Health Risk | Pathogenic | — |
| RS1252244505 | Health Risk | Pathogenic | — |
| RS1484537659 | Health Risk | Pathogenic | — |
| RS1566988788 | Health Risk | Pathogenic | Pulmonary arterial hypertension, Pulmonary arterial hypertension |
| RS1595437286 | Health Risk | Pathogenic | Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis |
| RS1595539403 | Health Risk | Pathogenic | Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis |
| RS1595541066 | Health Risk | Pathogenic | Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis |
| RS202140402 | Health Risk | Pathogenic | Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis |
| RS2034558794 | Health Risk | Pathogenic | EIF2AK4-related disorder, EIF2AK4-related disorder |
| RS2504524056 | Health Risk | Pathogenic | Pulmonary arterial hypertension, Pulmonary arterial hypertension |
| RS2504531661 | Health Risk | Pathogenic | — |
| RS2504569936 | Health Risk | Pathogenic | — |
| RS2504609565 | Health Risk | Pathogenic | — |
| RS2504639204 | Health Risk | Pathogenic | — |
| RS372637398 | Health Risk | Pathogenic | — |
| RS376877634 | Health Risk | Pathogenic | Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis |