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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]
EIF2AK4 (Eukaryotic Translation Initiation Factor 2 Alpha Kinase 4) is a Protein Coding gene. Diseases associated with EIF2AK4 include Pulmonary Venoocclusive Disease 2, Autosomal Recessive and Pulmonary Venoocclusive Disease 1, Autosomal Dominant. Among its related pathways are Autophagy - animal and Toll-like Receptor Signaling Pathway. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein kinase activity. An important paralog of this gene is EIF2AK3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000049 | tRNA binding | ISS | -- |
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003723 | RNA binding | IEA | -- |
GO:0004672 | protein kinase activity | IEA,IBA | 21873635 |
GO:0004674 | protein serine/threonine kinase activity | ISS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005844 | polysome | ISS | -- |
GO:0022626 | cytosolic ribosome | ISS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Translational Control | ||
2 | Autophagy - animal | ||
3 | Toll-like Receptor Signaling Pathway |
.34
|
|
4 | Herpes simplex virus 1 infection | ||
5 | Measles |
.35
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000077 | DNA damage checkpoint | IEA | -- |
GO:0002230 | positive regulation of defense response to virus by host | ISS | -- |
GO:0002250 | adaptive immune response | IEA | -- |
GO:0002286 | T cell activation involved in immune response | ISS | -- |
GO:0002376 | immune system process | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
fostamatinib | Approved, Investigational | Pharma | Target, inhibitor | Kinase Inhibitors | 0 | |
Haloperidol | Approved | Pharma | Antagonist, Pore Blocker | Antipsychotic drug | 170 | |
Olanzapine | Approved, Investigational | Pharma | Antagonist, Agonist, Full agonist, Inverse agonist | 442 | ||
Quetiapine | Approved | Pharma | Antagonist, Agonist, Full agonist | 0 | ||
Risperidone | Approved, Investigational | Pharma | Antagonist, Inverse agonist | SR-2A inhibitor | 532 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 |
|
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18a | · | 18b | ^ | 19 | ^ | 20a | · | 20b | ^ | 21 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: |
ExUns: | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ | 26 | ^ | 27a | · | 27b | ^ | 28a | · | 28b | ^ | 29 | ^ | 30 | ^ | 31a | · | 31b | ^ | 32 | ^ | 33 | ^ | 34 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||||
SP4: | - | - | - | ||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||
SP7: | - | - |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | EIF2AK4 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | EIF2AK4 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | EIF2AK4 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Eif2ak4 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Eif2ak4 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | EIF2AK4 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | EIF2AK4 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | EIF2AK4 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | EIF2AK4 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | eif2ak4 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | eif2ak4 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Gcn2 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP012368 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | gcn-2 30 |
|
||
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AAL083W 30 |
|
||
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0C10802g 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | GCN2 30 31 33 |
|
OneToMany | |
Bread mold (Neurospora crassa) |
Ascomycetes | NCU01187 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | gcn2 30 |
|
SNP ID | Clinical significance and condition | Chr 15 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
667371 | Likely Pathogenic: Pulmonary venoocclusive disease 1, autosomal dominant | 40,030,388(+) | GT/G | FRAMESHIFT_VARIANT | |
668219 | Likely Benign: not provided | 40,001,119(+) | G/C | SYNONYMOUS_VARIANT | |
668276 | Likely Benign: not provided | 40,011,276(+) | G/A | INTRON_VARIANT | |
672385 | Benign: not provided | 39,939,914(+) | G/GA | INTRON_VARIANT | |
674638 | Benign: not provided | 39,955,488(+) | A/G | INTRON_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
pulmonary venoocclusive disease 2, autosomal recessive |
|
|
pulmonary venoocclusive disease 1, autosomal dominant |
|
|
heritable pulmonary arterial hypertension |
|
|
pulmonary venoocclusive disease |
|
|
yellow fever |
|
|