Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5610
Gene name Gene Name - the full gene name approved by the HGNC.
Eukaryotic translation initiation factor 2 alpha kinase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EIF2AK2
Synonyms (NCBI Gene) Gene synonyms aliases
DYT33, EIF2AK1, LEUDEN, PKR, PPP1R83, PRKR
Disease Acronyms (UniProt) Disease acronyms from UniProt database
DYT33, LEUDEN
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p22.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
SNP ID Visualize variation Clinical significance Consequence
rs1573010519 C>T Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
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 factor Regulation Reference
IRF1 Activation 8622878
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000186 Process Activation of MAPKK activity IMP 15229216
GO:0001819 Process Positive regulation of cytokine production ISS
GO:0003723 Function RNA binding HDA 22681889
GO:0003725 Function Double-stranded RNA binding IDA 21266579
GO:0004672 Function Protein kinase activity IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
176871 9437 ENSG00000055332
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Lung adenocarcinoma Adenocarcinoma of lung (disorder) rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370
View all (5 more)
Prostate cancer Malignant neoplasm of prostate rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 17199135
Unknown
Disease term Disease name Evidence References Source
Limb-Onset Dystonia early-onset generalized limb-onset dystonia GenCC
Gout Gout GWAS
Associations from Text Mining
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