Gene Gene information from NCBI Gene database.
Entrez ID 5610
Gene name Eukaryotic translation initiation factor 2 alpha kinase 2
Gene symbol EIF2AK2
Synonyms (NCBI Gene)
DYT33EIF2AK1LEUDENPKRPPP1R83PRKR
Chromosome 2
Chromosome location 2p22.2
Summary The protein encoded by this gene is a serine/threonine protein kinase that is activated by autophosphorylation after binding to dsRNA. The activated form of the encoded protein can phosphorylate translation initiation factor EIF2S1, which in turn inhibits
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1573010519 C>T Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
265
miRTarBase ID miRNA Experiments Reference
MIRT019974 hsa-miR-375 qRT-PCR;Microarray 20584986
MIRT022755 hsa-miR-124-3p Proteomics 18668037
MIRT046386 hsa-miR-15b-5p CLASH 23622248
MIRT037216 hsa-miR-877-5p CLASH 23622248
MIRT706575 hsa-miR-495-5p HITS-CLIP 22927820
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
IRF1 Activation 8622878
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
80
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001819 Process Positive regulation of cytokine production IEA
GO:0001819 Process Positive regulation of cytokine production ISS
GO:0002376 Process Immune system process IEA
GO:0003723 Function RNA binding HDA 22681889
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
176871 9437 ENSG00000055332
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P19525
Protein name Interferon-induced, double-stranded RNA-activated protein kinase (EC 2.7.11.1) (Eukaryotic translation initiation factor 2-alpha kinase 2) (eIF-2A protein kinase 2) (Interferon-inducible RNA-dependent protein kinase) (P1/eIF-2A protein kinase) (Protein ki
Protein function IFN-induced dsRNA-dependent serine/threonine-protein kinase that phosphorylates the alpha subunit of eukaryotic translation initiation factor 2 (EIF2S1/eIF-2-alpha) and plays a key role in the innate immune response to viral infection (PubMed:18
PDB 1QU6 , 2A19 , 2A1A , 3UIU , 6D3K , 6D3L , 7OBK , 7OBL , 8BI7 , 8I9J , 8IZN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00035 dsrm 10 75 Double-stranded RNA binding motif Domain
PF00035 dsrm 101 165 Double-stranded RNA binding motif Domain
PF00069 Pkinase 267 537 Protein kinase domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in thymus, spleen and bone marrow compared to non-hematopoietic tissues such as small intestine, liver, or kidney tissues. Colocalizes with GSK3B and TAU in the Alzheimer disease (AD) brain. Elevated levels seen in bre
Sequence
Sequence length 551
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Necroptosis
Alzheimer disease
Hepatitis C
Measles
Influenza A
Human papillomavirus infection
Kaposi sarcoma-associated herpesvirus infection
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Coronavirus disease - COVID-19
Viral carcinogenesis
  ISG15 antiviral mechanism
Inhibition of PKR
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
44
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Dystonia 33 Likely pathogenic; Pathogenic rs2148705154 RCV001807542
RCV001807544
Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome Likely pathogenic rs2148703089 RCV001527613
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cognitive impairment Conflicting classifications of pathogenicity rs1573010519 RCV001009329
Colon adenocarcinoma Likely benign rs377410593 RCV005870085
Developmental regression Uncertain significance; Conflicting classifications of pathogenicity rs1573031858, rs1573031939, rs1572996700 RCV001004044
RCV001004045
RCV001009605
EIF2AK2-related disorder Uncertain significance rs1363544084, rs2466922428, rs2466895698, rs1573029592 RCV003408742
RCV003402934
RCV003983322
RCV000991217
RCV000991207
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acquired Immunodeficiency Syndrome Associate 25653431
Adenocarcinoma Associate 25798539
Alzheimer Disease Associate 19210572, 20067632
Anorchia Associate 32197074
Arthritis Reactive Associate 23349666
Asthma Associate 26399222
Ataxia Associate 32197074
Autoimmune Diseases Associate 19337998, 31031002
Bone Marrow Failure Disorders Associate 21659535
Breast Neoplasms Associate 18490711, 18559534, 23029376, 23112838