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mutLBSgeneDB |
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| Gene summary for EIF2AK2 |
 Gene summary |
| Basic gene Info. | Gene symbol | EIF2AK2 |
| Gene name | eukaryotic translation initiation factor 2-alpha kinase 2 | |
| Synonyms | EIF2AK1|PKR|PPP1R83|PRKR | |
| Cytomap | UCSC genome browser: 2p22-p21 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001135651.2, NM_001135652.2,NM_002759.3, | |
| Description | P1/eIF-2A protein kinasedouble stranded RNA activated protein kinaseeIF-2A protein kinase 2interferon-induced, double-stranded RNA-activated protein kinaseinterferon-inducible elF2alpha kinasep68 kinaseprotein kinase, interferon-inducible double str | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 176871 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000055332 | ||
| HPRD : 01468 | ||
| Protein | UniProt: P19525 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_EIF2AK2 | |
| BioGPS: 5610 | ||
| Pathway | NCI Pathway Interaction Database: EIF2AK2 | |
| KEGG: EIF2AK2 | ||
| REACTOME: EIF2AK2 | ||
| Pathway Commons: EIF2AK2 | ||
| Context | iHOP: EIF2AK2 | |
| ligand binding site mutation search in PubMed: EIF2AK2 | ||
| UCL Cancer Institute: EIF2AK2 | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0006468 | protein phosphorylation | 19189853 | GO:0017148 | negative regulation of translation | 12882984 | GO:0035455 | response to interferon-alpha | 19840259 | GO:0046777 | protein autophosphorylation | 22801494 | GO:0051092 | positive regulation of NF-kappaB transcription factor activity | 15121867 |
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| Ligand binding site mutations for EIF2AK2 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | M366 | I364V | STAD | 1 | K296 | R297H | UCEC | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for EIF2AK2 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | K296 | R297H | -1.557553 | M366 | I364V | -1.1780228 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for EIF2AK2 from PDB |
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| Differential gene expression and gene-gene network for EIF2AK2 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for EIF2AK2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0021400 | Influenza, Human | 3 | Biomarker |
| umls:C0033578 | Prostatic Neoplasms | 1 | Biomarker |
| umls:C0038220 | Status Epilepticus | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for EIF2AK2 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of EIF2AK2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ANP | AMP-PNP | 2a19 | B | K296 M366 |
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| Conservation information for LBS of EIF2AK2 |
| Multiple alignments for P19525 in multiple species |
| LBS | AA sequence | # species | Species | C369 | IQMEFCDKGTL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D414 | GLIHRDLKPGN | 2 | Mus musculus, Rattus norvegicus | D414 | KLIHRDLKPSN | 1 | Homo sapiens | D432 | HIKIGDFGLAT | 2 | Mus musculus, Rattus norvegicus | D432 | QVKIGDFGLVT | 1 | Homo sapiens | E367 | LFIQMEFCDKG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F368 | FIQMEFCDKGT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F421 | KPSNIFLVDTK | 1 | Homo sapiens | F421 | KPGNIFLVDER | 1 | Mus musculus | F421 | KPGNIFLVDEK | 1 | Rattus norvegicus | G274 | EIELIGSGGFG | 1 | Homo sapiens | G274 | DIEEIGLGGFG | 1 | Mus musculus | G274 | DIEEIGSGGFG | 1 | Rattus norvegicus | I273 | KEIELIGSGGF | 1 | Homo sapiens | I273 | EDIEEIGLGGF | 1 | Mus musculus | I273 | EDIEEIGSGGF | 1 | Rattus norvegicus | K296 | KTYVIKRVKYN | 1 | Homo sapiens | K296 | KRYAIKRVKYN | 1 | Mus musculus | K296 | KTYAIKRITYN | 1 | Rattus norvegicus | M366 | CLFIQMEFCDK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N419 | DLKPGNIFLVD | 2 | Mus musculus, Rattus norvegicus | N419 | DLKPSNIFLVD | 1 | Homo sapiens | S418 | RDLKPGNIFLV | 2 | Mus musculus, Rattus norvegicus | S418 | RDLKPSNIFLV | 1 | Homo sapiens | V281 | GGFGQVFKAKH | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V294 | DGKTYVIKRVK | 1 | Homo sapiens | V294 | DGKRYAIKRVK | 1 | Mus musculus | V294 | DGKTYAIKRIT | 1 | Rattus norvegicus |
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