EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4
Gene ID: 440275, updated on 7-Apr-2024Gene type: protein coding
Also known as: GCN2; PVOD2
- See all available tests in GTR for this gene
- Go to complete Gene record for EIF2AK4
- Go to Variation Viewer for EIF2AK4 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma. GeneReviews: Not available | |
| Familial pulmonary capillary hemangiomatosis | See labs |
| Genetic variants near PDGFRA are associated with corneal curvature in Australians. GeneReviews: Not available | |
| Genome wide association study: searching for genes underlying body mass index in the Chinese. GeneReviews: Not available | |
| Genome-wide association study supports the role of the immunological system and of the neurodevelopmental processes in response to haloperidol treatment. GeneReviews: Not available |
Genomic context
- Location:
- 15q15.1
- Sequence:
- Chromosome: 15; NC_000015.10 (39934115..40035591)
- Total number of exons:
- 39
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for EIF2AK4 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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