EIF2AK2 (eukaryotic translation initiation factor 2 alpha kinase 2) - Rat Genome Database

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Gene: EIF2AK2 (eukaryotic translation initiation factor 2 alpha kinase 2) Homo sapiens
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Symbol: EIF2AK2
Name: eukaryotic translation initiation factor 2 alpha kinase 2
RGD ID: 1345835
HGNC Page HGNC:9437
Description: Enables double-stranded RNA binding activity; eukaryotic translation initiation factor 2alpha kinase activity; and identical protein binding activity. Involved in several processes, including negative regulation of osteoblast proliferation; negative regulation of viral genome replication; and regulation of macromolecule biosynthetic process. Located in cytosol and perinuclear region of cytoplasm. Implicated in Alzheimer's disease; Huntington's disease; Parkinson's disease; dystonia; and hepatitis B. Biomarker of amyotrophic lateral sclerosis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: double stranded RNA activated protein kinase; DYT33; eIF-2A protein kinase 2; EIF2AK1; eukaryotic translation initiation factor 2-alpha kinase 2; interferon-induced, double-stranded RNA-activated protein kinase; interferon-inducible elF2alpha kinase; interferon-inducible RNA-dependent protein kinase; LEUDEN; MGC126524; P1/eIF-2A protein kinase; p68 kinase; PKR; PPP1R83; PRKR; protein kinase RNA-activated; protein kinase, interferon-inducible double stranded RNA dependent; tyrosine-protein kinase EIF2AK2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity.
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38237,099,210 - 37,156,980 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl237,099,210 - 37,157,522 (-)EnsemblGRCh38hg38GRCh38
GRCh37237,326,353 - 37,384,123 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36237,187,203 - 37,237,572 (-)NCBINCBI36Build 36hg18NCBI36
Build 34237,245,349 - 37,295,719NCBI
Celera237,174,728 - 37,225,214 (-)NCBICelera
Cytogenetic Map2p22.2NCBI
HuRef237,072,482 - 37,124,338 (-)NCBIHuRef
CHM1_1237,261,631 - 37,313,513 (-)NCBICHM1_1
T2T-CHM13v2.0237,106,342 - 37,164,108 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
(S)-nicotine  (EXP)
1,2-dimethylhydrazine  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2-aminopurine  (EXP,ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3-chloropropane-1,2-diol  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4-amino-2,6-dinitrotoluene  (ISO)
4-hydroxynon-2-enal  (ISO)
5-aza-2'-deoxycytidine  (EXP)
acetamide  (ISO)
acetic acid [2-[[(5-nitro-2-thiazolyl)amino]-oxomethyl]phenyl] ester  (EXP)
acrylamide  (ISO)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (ISO)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bisphenol A  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
captan  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
cisplatin  (EXP,ISO)
cobalt dichloride  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
cyclosporin A  (EXP)
D-glucose  (ISO)
deoxynivalenol  (EXP,ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
diazinon  (EXP)
dibutyl phthalate  (EXP,ISO)
diethyl maleate  (ISO)
dioxygen  (ISO)
doxorubicin  (EXP)
elemental selenium  (EXP)
enzyme inhibitor  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
ferric oxide  (ISO)
flutamide  (ISO)
folpet  (ISO)
formaldehyde  (EXP)
fructose  (ISO)
genistein  (ISO)
glucose  (ISO)
glutathione  (ISO)
hexadecanoic acid  (EXP,ISO)
ivermectin  (EXP)
lead diacetate  (ISO)
lipopolysaccharide  (EXP,ISO)
manganese atom  (ISO)
manganese(0)  (ISO)
manganese(II) chloride  (ISO)
mercury dichloride  (EXP)
metam  (ISO)
methapyrilene  (EXP)
methidathion  (ISO)
minocycline  (ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
nicotine  (EXP)
oxaliplatin  (ISO)
paracetamol  (EXP,ISO)
pentachlorophenol  (ISO)
phorbol 13-acetate 12-myristate  (EXP)
poly(I:C)  (EXP,ISO)
potassium atom  (ISO)
quercetin  (EXP)
quinolinic acid  (ISO)
resveratrol  (EXP,ISO)
Roridin A  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
selenium atom  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP)
staurosporine  (EXP)
succimer  (ISO)
sucrose  (ISO)
sunitinib  (EXP)
T-2 toxin  (ISO)
tamoxifen  (ISO)
tebuconazole  (ISO)
temozolomide  (EXP)
tert-butyl hydroperoxide  (ISO)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
Triptolide  (ISO)
trovafloxacin  (ISO)
valproic acid  (EXP)
vancomycin  (ISO)
vitamin E  (EXP)
zebularine  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
cellular response to amino acid starvation  (IMP)
defense response to virus  (IEA,IEP)
endoplasmic reticulum unfolded protein response  (IEA,ISO)
immune system process  (IEA)
innate immune response  (IEA)
negative regulation of apoptotic process  (IEA,ISO)
negative regulation of cell population proliferation  (TAS)
negative regulation of osteoblast proliferation  (IMP)
negative regulation of translation  (IDA,IMP)
negative regulation of viral genome replication  (IEA,IMP)
peptidyl-tyrosine phosphorylation  (IEA)
phosphorylation  (IEA)
positive regulation of apoptotic process  (ISO)
positive regulation of chemokine production  (IEA,ISS)
positive regulation of cytokine production  (IEA,ISS)
positive regulation of MAPK cascade  (IMP)
positive regulation of NF-kappaB transcription factor activity  (IDA)
positive regulation of NIK/NF-kappaB signaling  (IEA,ISS)
positive regulation of stress-activated MAPK cascade  (IEA,ISS)
protein autophosphorylation  (IDA,IEA,IMP,ISO)
protein phosphorylation  (IDA,IEA,ISO,TAS)
regulation of catalytic activity  (IEA)
regulation of hematopoietic progenitor cell differentiation  (IEA,ISS)
regulation of hematopoietic stem cell differentiation  (IEA,ISS)
regulation of hematopoietic stem cell proliferation  (IEA,ISS)
regulation of NLRP3 inflammasome complex assembly  (IEA,ISS)
regulation of translational initiation by eIF2 alpha phosphorylation  (IEA)
response to exogenous dsRNA  (ISO)
response to interferon-alpha  (IDA)
response to lipopolysaccharide  (ISO)
response to mechanical stimulus  (ISO)
response to organic substance  (ISO)
response to toxic substance  (ISO)
response to virus  (IMP)
response to vitamin E  (ISO)
translation  (IEA,ISO)

Cellular Component
cytoplasm  (IDA,IEA)
cytosol  (IBA,IDA,TAS)
membrane  (HDA)
nucleus  (IEA,ISO)
perinuclear region of cytoplasm  (IDA,IEA)
ribosome  (TAS)

References

References - curated
# Reference Title Reference Citation
1. Dichotomy between survival and lytic gene expression in RNase L- and PKR-deficient mice transduced with an adenoviral vector expressing murine IFN-beta following ocular HSV-1 infection. Al-Khatib K, etal., Exp Eye Res. 2005 Feb;80(2):167-73. doi: 10.1016/j.exer.2004.08.026.
2. Double-strand RNA dependent protein kinase (PKR) is involved in the extrastriatal degeneration in Parkinson's disease and Huntington's disease. Bando Y, etal., Neurochem Int. 2005 Jan;46(1):11-8.
3. Interferon-regulated pathways that control hepatitis B virus replication in transgenic mice. Guidotti LG, etal., J Virol. 2002 Mar;76(6):2617-21. doi: 10.1128/jvi.76.6.2617-2621.2002.
4. Protein kinase and protein phosphatase expression in amyotrophic lateral sclerosis spinal cord. Hu JH, etal., J Neurochem. 2003 Apr;85(2):432-42.
5. Inhibition of RNase L and RNA-dependent protein kinase (PKR) by sunitinib impairs antiviral innate immunity. Jha BK, etal., J Biol Chem. 2011 Jul 29;286(30):26319-26. doi: 10.1074/jbc.M111.253443. Epub 2011 Jun 2.
6. TNF-alpha mediates PKR-dependent memory impairment and brain IRS-1 inhibition induced by Alzheimer's beta-amyloid oligomers in mice and monkeys. Lourenco MV, etal., Cell Metab. 2013 Dec 3;18(6):831-43. doi: 10.1016/j.cmet.2013.11.002.
7. Comparison of Human and Experimental Pulmonary Veno-Occlusive Disease. Manaud G, etal., Am J Respir Cell Mol Biol. 2020 Jul;63(1):118-131. doi: 10.1165/rcmb.2019-0015OC.
8. Neuronal phosphorylated RNA-dependent protein kinase in Creutzfeldt-Jakob disease. Paquet C, etal., J Neuropathol Exp Neurol. 2009 Feb;68(2):190-8. doi: 10.1097/NEN.0b013e318196cd7c.
9. Double-stranded RNA-dependent protein kinase, PKR, binds preferentially to Huntington's disease (HD) transcripts and is activated in HD tissue. Peel AL, etal., Hum Mol Genet. 2001 Jul 15;10(15):1531-8.
10. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
11. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
12. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
13. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
14. Roles of vaccinia virus genes E3L and K3L and host genes PKR and RNase L during intratracheal infection of C57BL/6 mice. Rice AD, etal., J Virol. 2011 Jan;85(1):550-67. doi: 10.1128/JVI.00254-10. Epub 2010 Oct 13.
15. Blockade of interferon induction and action by the E3L double-stranded RNA binding proteins of vaccinia virus. Xiang Y, etal., J Virol. 2002 May;76(10):5251-9. doi: 10.1128/jvi.76.10.5251-5259.2002.
Additional References at PubMed
PMID:1351683   PMID:1373553   PMID:1373554   PMID:1677563   PMID:1695551   PMID:1708818   PMID:2180064   PMID:7491766   PMID:7568151   PMID:7686883   PMID:7686884   PMID:7738010  
PMID:7757816   PMID:8099444   PMID:8576172   PMID:8601309   PMID:8798713   PMID:8812437   PMID:8887659   PMID:8889548   PMID:8921913   PMID:9079663   PMID:9135145   PMID:9143277  
PMID:9214631   PMID:9431994   PMID:9447982   PMID:9528799   PMID:9687506   PMID:9721103   PMID:9726442   PMID:9735304   PMID:9736623   PMID:9781815   PMID:9819435   PMID:9891046  
PMID:10320367   PMID:10330179   PMID:10348343   PMID:10390359   PMID:10400669   PMID:10400814   PMID:10488152   PMID:10542257   PMID:10557102   PMID:10620360   PMID:10648614   PMID:10684936  
PMID:10723127   PMID:10747897   PMID:10848580   PMID:10866685   PMID:10884347   PMID:11123929   PMID:11152499   PMID:11160738   PMID:11238927   PMID:11278865   PMID:11337501   PMID:11350938  
PMID:11438532   PMID:11438536   PMID:11438540   PMID:11447118   PMID:11452027   PMID:11526399   PMID:11555640   PMID:11773402   PMID:11836380   PMID:11921349   PMID:11985496   PMID:11991642  
PMID:12051728   PMID:12055262   PMID:12060652   PMID:12138106   PMID:12231563   PMID:12349906   PMID:12368306   PMID:12368348   PMID:12396729   PMID:12397061   PMID:12447867   PMID:12473108  
PMID:12477932   PMID:12483527   PMID:12539042   PMID:12609980   PMID:12610133   PMID:12665801   PMID:12679338   PMID:12882984   PMID:12944978   PMID:13678666   PMID:14638359   PMID:14698665  
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PMID:15635413   PMID:15737233   PMID:15815621   PMID:15851010   PMID:15880455   PMID:15907845   PMID:16009940   PMID:16156900   PMID:16216244   PMID:16271080   PMID:16288713   PMID:16339759  
PMID:16373505   PMID:16446363   PMID:16466763   PMID:16580685   PMID:16631606   PMID:16785445   PMID:16861340   PMID:16861808   PMID:16924232   PMID:16954686   PMID:16957780   PMID:16987971  
PMID:16989899   PMID:17079286   PMID:17202131   PMID:17284445   PMID:17290288   PMID:17307214   PMID:17318221   PMID:17353931   PMID:17420072   PMID:17451862   PMID:17522227   PMID:17541283  
PMID:17596833   PMID:17597457   PMID:17612505   PMID:17686861   PMID:17716668   PMID:17785458   PMID:17851256   PMID:17928244   PMID:17928446   PMID:17959656   PMID:17975119   PMID:17977969  
PMID:18023289   PMID:18048689   PMID:18063576   PMID:18082144   PMID:18087277   PMID:18096616   PMID:18362360   PMID:18426922   PMID:18496558   PMID:18599499   PMID:18684815   PMID:18684960  
PMID:18728014   PMID:18835251   PMID:18927075   PMID:18936160   PMID:18957415   PMID:18971339   PMID:18976633   PMID:18991615   PMID:19004947   PMID:19023099   PMID:19028691   PMID:19106640  
PMID:19109397   PMID:19189853   PMID:19210572   PMID:19229320   PMID:19259124   PMID:19322201   PMID:19349624   PMID:19353519   PMID:19364808   PMID:19416861   PMID:19434718   PMID:19445956  
PMID:19507191   PMID:19515768   PMID:19605474   PMID:19605483   PMID:19631745   PMID:19642004   PMID:19651874   PMID:19710021   PMID:19733181   PMID:19744687   PMID:19776135   PMID:19812373  
PMID:19840259   PMID:19846517   PMID:19846675   PMID:19946888   PMID:20006836   PMID:20006840   PMID:20029030   PMID:20171114   PMID:20181660   PMID:20309637   PMID:20331378   PMID:20353946  
PMID:20395957   PMID:20447405   PMID:20484669   PMID:20485506   PMID:20587610   PMID:20588308   PMID:20628624   PMID:20685959   PMID:20930042   PMID:21029237   PMID:21048031   PMID:21072047  
PMID:21123378   PMID:21123651   PMID:21145461   PMID:21266579   PMID:21294215   PMID:21338484   PMID:21368187   PMID:21377708   PMID:21385567   PMID:21464971   PMID:21468538   PMID:21504114  
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PMID:22174754   PMID:22190034   PMID:22278235   PMID:22281122   PMID:22306812   PMID:22381929   PMID:22473766   PMID:22647704   PMID:22681889   PMID:22787234   PMID:22801494   PMID:22894766  
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PMID:23221979   PMID:23229543   PMID:23302873   PMID:23314571   PMID:23320095   PMID:23370317   PMID:23372823   PMID:23376165   PMID:23399035   PMID:23455922   PMID:23527187   PMID:23682076  
PMID:23706307   PMID:23853588   PMID:24020926   PMID:24089560   PMID:24163370   PMID:24189400   PMID:24334130   PMID:24335187   PMID:24347309   PMID:24463368   PMID:24623135   PMID:24651521  
PMID:24659800   PMID:24684861   PMID:24778252   PMID:24786893   PMID:24797263   PMID:24992036   PMID:25074923   PMID:25297997   PMID:25329545   PMID:25389016   PMID:25410857   PMID:25520508  
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PMID:30073405   PMID:30080984   PMID:30245117   PMID:30265185   PMID:30275201   PMID:30397336   PMID:30463901   PMID:30575730   PMID:30737378   PMID:30770398   PMID:30794626   PMID:30821420  
PMID:30940648   PMID:30948266   PMID:31086176   PMID:31086188   PMID:31091453   PMID:31239290   PMID:31246429   PMID:31292248   PMID:31341901   PMID:31343991   PMID:31478661   PMID:31527615  
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PMID:32296183   PMID:32416067   PMID:32457219   PMID:32539931   PMID:32634389   PMID:32707033   PMID:32780723   PMID:32801355   PMID:32807901   PMID:32877691   PMID:32994395   PMID:33024031  
PMID:33236446   PMID:33248325   PMID:33306668   PMID:33387379   PMID:33545068   PMID:33588244   PMID:33644029   PMID:33658012   PMID:33856033   PMID:33911136   PMID:33961781   PMID:34035218  
PMID:34079125   PMID:34223639   PMID:34343497   PMID:34372519   PMID:34578187   PMID:34650049   PMID:34706234   PMID:34728620   PMID:34732716   PMID:34780058   PMID:34799660   PMID:34917906  
PMID:35013218   PMID:35031058   PMID:35148201   PMID:35232816   PMID:35256949   PMID:35271311   PMID:35446349   PMID:35509820   PMID:35654790   PMID:35708211   PMID:35831314  


Genomics

Comparative Map Data
EIF2AK2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38237,099,210 - 37,156,980 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl237,099,210 - 37,157,522 (-)EnsemblGRCh38hg38GRCh38
GRCh37237,326,353 - 37,384,123 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36237,187,203 - 37,237,572 (-)NCBINCBI36Build 36hg18NCBI36
Build 34237,245,349 - 37,295,719NCBI
Celera237,174,728 - 37,225,214 (-)NCBICelera
Cytogenetic Map2p22.2NCBI
HuRef237,072,482 - 37,124,338 (-)NCBIHuRef
CHM1_1237,261,631 - 37,313,513 (-)NCBICHM1_1
T2T-CHM13v2.0237,106,342 - 37,164,108 (-)NCBIT2T-CHM13v2.0
Eif2ak2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391779,157,933 - 79,190,001 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1779,159,993 - 79,190,002 (-)EnsemblGRCm39 Ensembl
GRCm381778,850,504 - 78,882,572 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1778,852,564 - 78,882,573 (-)EnsemblGRCm38mm10GRCm38
MGSCv371779,251,890 - 79,281,912 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361778,757,622 - 78,787,630 (-)NCBIMGSCv36mm8
Celera1783,169,187 - 83,200,883 (-)NCBICelera
Cytogenetic Map17E3NCBI
cM Map1749.56NCBI
Eif2ak2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2616,189,000 - 16,224,972 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl616,188,979 - 16,224,971 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx616,504,502 - 16,534,073 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0616,826,710 - 16,856,281 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0616,307,765 - 16,337,332 (+)NCBIRnor_WKY
Rnor_6.061,428,845 - 1,466,193 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl61,428,834 - 1,466,201 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.061,419,340 - 1,456,636 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera615,851,444 - 15,880,415 (+)NCBICelera
Cytogenetic Map6q11NCBI
Eif2ak2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554414,908,318 - 4,944,343 (-)NCBIChiLan1.0ChiLan1.0
EIF2AK2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12A37,895,805 - 37,945,465 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A37,895,814 - 37,941,686 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02A37,130,386 - 37,184,587 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
EIF2AK2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11729,494,641 - 29,537,933 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1729,496,128 - 29,537,933 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1729,310,721 - 29,351,697 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01730,145,828 - 30,187,548 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1730,143,443 - 30,180,337 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11729,373,804 - 29,415,016 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01729,436,846 - 29,477,968 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01729,654,942 - 29,696,294 (-)NCBIUU_Cfam_GSD_1.0
Eif2ak2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629242,461,570 - 42,497,341 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366631,126,977 - 1,157,137 (+)EnsemblSpeTri2.0
SpeTri2.0NW_0049366631,127,047 - 1,157,263 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EIF2AK2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl3103,041,221 - 103,096,738 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.13103,041,029 - 103,096,741 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.23109,641,276 - 109,667,770 (+)NCBISscrofa10.2Sscrofa10.2susScr3
EIF2AK2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11470,246,081 - 70,290,851 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1470,247,168 - 70,296,463 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604541,658,265 - 41,713,053 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Eif2ak2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473818,717,092 - 18,758,457 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473818,716,623 - 18,764,243 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in EIF2AK2
28 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3817
Count of miRNA genes:1262
Interacting mature miRNAs:1621
Transcripts:ENST00000233057, ENST00000390013, ENST00000395127, ENST00000405334, ENST00000411537, ENST00000462861, ENST00000496059
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
STS-U50648  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37237,334,194 - 37,334,419UniSTSGRCh37
Build 36237,187,698 - 37,187,923RGDNCBI36
Celera237,175,223 - 37,175,448RGD
Cytogenetic Map2p22-p21UniSTS
HuRef237,074,395 - 37,074,620UniSTS
NCBI RH Map2228.3UniSTS
RH93202  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37237,333,791 - 37,333,911UniSTSGRCh37
Build 36237,187,295 - 37,187,415RGDNCBI36
Celera237,174,819 - 37,174,939RGD
Cytogenetic Map2p22-p21UniSTS
HuRef237,073,991 - 37,074,111UniSTS
GeneMap99-GB4 RH Map2116.61UniSTS
RH103558  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37237,348,875 - 37,349,021UniSTSGRCh37
Build 36237,202,379 - 37,202,525RGDNCBI36
Celera237,189,902 - 37,190,048RGD
Cytogenetic Map2p22-p21UniSTS
HuRef237,088,954 - 37,089,100UniSTS
GeneMap99-GB4 RH Map2125.54UniSTS
csnpprkr-pcr12-1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37237,347,024 - 37,347,420UniSTSGRCh37
Build 36237,200,528 - 37,200,924RGDNCBI36
Celera237,188,051 - 37,188,447RGD
Cytogenetic Map2p22-p21UniSTS
PMC355900P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37237,374,072 - 37,374,947UniSTSGRCh37
Build 36237,227,576 - 37,228,451RGDNCBI36
Celera237,215,092 - 37,215,967RGD
Cytogenetic Map2p22-p21UniSTS
HuRef237,114,209 - 37,115,084UniSTS
PRKR_2017  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37237,333,581 - 37,334,480UniSTSGRCh37
Build 36237,187,085 - 37,187,984RGDNCBI36
Celera237,174,610 - 37,175,509RGD
HuRef237,073,782 - 37,074,681UniSTS
RH69133  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37237,333,749 - 37,333,882UniSTSGRCh37
Build 36237,187,253 - 37,187,386RGDNCBI36
Celera237,174,777 - 37,174,910RGD
Cytogenetic Map2p22-p21UniSTS
HuRef237,073,949 - 37,074,082UniSTS
GeneMap99-GB4 RH Map2116.61UniSTS
NCBI RH Map2273.5UniSTS
SGC31475  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37237,334,209 - 37,334,418UniSTSGRCh37
Build 36237,187,713 - 37,187,922RGDNCBI36
Celera237,175,238 - 37,175,447RGD
Cytogenetic Map2p22-p21UniSTS
HuRef237,074,410 - 37,074,619UniSTS
GeneMap99-GB4 RH Map2123.86UniSTS
Whitehead-RH Map2178.5UniSTS
D10S16   No map positions available.
D10S16  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map3p22UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map5q21-q22UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map4q34UniSTS
Cytogenetic Map2p22-p21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map1p36.23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map12p12.1-p11.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map17qterUniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map3p23-p21UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1p36.1-p34UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map15q24.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map3p23UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map19qterUniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map17pUniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map3q26.2UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1622 1410 1101 164 1237 110 2049 746 1829 238 979 1419 67 865 1195 3
Low 811 1574 623 458 709 355 2307 1448 1899 180 470 190 105 339 1593 1
Below cutoff 3 2 2 1 4 2 5 1 8 4 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_030351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001135651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001135652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC007899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF086566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH006648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH008429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI360504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY228338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY302136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC057805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM473760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU687340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  F03305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M35663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M85294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000233057   ⟹   ENSP00000233057
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl237,099,210 - 37,156,980 (-)Ensembl
RefSeq Acc Id: ENST00000390013   ⟹   ENSP00000374663
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl237,141,635 - 37,157,065 (-)Ensembl
RefSeq Acc Id: ENST00000395127   ⟹   ENSP00000378559
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl237,105,143 - 37,157,047 (-)Ensembl
RefSeq Acc Id: ENST00000405334   ⟹   ENSP00000385014
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl237,107,273 - 37,147,806 (-)Ensembl
RefSeq Acc Id: ENST00000411537   ⟹   ENSP00000393921
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl237,119,987 - 37,156,935 (-)Ensembl
RefSeq Acc Id: ENST00000462861
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl237,107,346 - 37,109,500 (-)Ensembl
RefSeq Acc Id: ENST00000496059
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl237,136,729 - 37,146,961 (-)Ensembl
RefSeq Acc Id: ENST00000647926   ⟹   ENSP00000497534
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl237,101,935 - 37,148,988 (-)Ensembl
RefSeq Acc Id: ENST00000679507   ⟹   ENSP00000506024
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl237,099,210 - 37,157,007 (-)Ensembl
RefSeq Acc Id: ENST00000679979   ⟹   ENSP00000506455
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl237,099,210 - 37,156,980 (-)Ensembl
RefSeq Acc Id: ENST00000680273   ⟹   ENSP00000506203
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl237,099,210 - 37,156,942 (-)Ensembl
RefSeq Acc Id: ENST00000681329
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl237,099,210 - 37,157,522 (-)Ensembl
RefSeq Acc Id: ENST00000681463   ⟹   ENSP00000505138
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl237,099,210 - 37,157,044 (-)Ensembl
RefSeq Acc Id: ENST00000681507   ⟹   ENSP00000505772
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl237,099,210 - 37,157,192 (-)Ensembl
RefSeq Acc Id: ENST00000681516   ⟹   ENSP00000506573
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl237,099,210 - 37,148,988 (-)Ensembl
RefSeq Acc Id: NM_001135651   ⟹   NP_001129123
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38237,099,210 - 37,156,980 (-)NCBI
GRCh37237,332,281 - 37,384,190 (-)NCBI
HuRef237,072,482 - 37,124,338 (-)NCBI
CHM1_1237,261,631 - 37,313,513 (-)NCBI
T2T-CHM13v2.0237,106,342 - 37,164,108 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001135652   ⟹   NP_001129124
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38237,105,138 - 37,147,822 (-)NCBI
GRCh37237,332,281 - 37,384,190 (-)NCBI
HuRef237,072,482 - 37,124,338 (-)NCBI
CHM1_1237,261,631 - 37,304,288 (-)NCBI
T2T-CHM13v2.0237,112,270 - 37,154,939 (-)NCBI
Sequence:
RefSeq Acc Id: NM_002759   ⟹   NP_002750
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38237,099,210 - 37,156,980 (-)NCBI
GRCh37237,332,281 - 37,384,190 (-)NCBI
Build 36237,187,203 - 37,237,572 (-)NCBI Archive
HuRef237,072,482 - 37,124,338 (-)NCBI
CHM1_1237,261,631 - 37,313,513 (-)NCBI
T2T-CHM13v2.0237,106,342 - 37,164,108 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011532987   ⟹   XP_011531289
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38237,099,210 - 37,156,980 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047445115   ⟹   XP_047301071
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38237,099,210 - 37,156,980 (-)NCBI
RefSeq Acc Id: XM_047445116   ⟹   XP_047301072
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38237,099,210 - 37,156,980 (-)NCBI
Reference Sequences
RefSeq Acc Id: NP_001129123   ⟸   NM_001135651
- Peptide Label: isoform a
- UniProtKB: Q9UIR4 (UniProtKB/Swiss-Prot),   P19525 (UniProtKB/Swiss-Prot),   Q8IW76 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_002750   ⟸   NM_002759
- Peptide Label: isoform a
- UniProtKB: Q9UIR4 (UniProtKB/Swiss-Prot),   P19525 (UniProtKB/Swiss-Prot),   Q8IW76 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001129124   ⟸   NM_001135652
- Peptide Label: isoform b
- UniProtKB: P19525 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011531289   ⟸   XM_011532987
- Peptide Label: isoform X1
- UniProtKB: Q9UIR4 (UniProtKB/Swiss-Prot),   P19525 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000393921   ⟸   ENST00000411537
RefSeq Acc Id: ENSP00000233057   ⟸   ENST00000233057
RefSeq Acc Id: ENSP00000374663   ⟸   ENST00000390013
RefSeq Acc Id: ENSP00000385014   ⟸   ENST00000405334
RefSeq Acc Id: ENSP00000378559   ⟸   ENST00000395127
RefSeq Acc Id: ENSP00000497534   ⟸   ENST00000647926
RefSeq Acc Id: ENSP00000506203   ⟸   ENST00000680273
RefSeq Acc Id: ENSP00000506573   ⟸   ENST00000681516
RefSeq Acc Id: ENSP00000506024   ⟸   ENST00000679507
RefSeq Acc Id: ENSP00000505772   ⟸   ENST00000681507
RefSeq Acc Id: ENSP00000506455   ⟸   ENST00000679979
RefSeq Acc Id: ENSP00000505138   ⟸   ENST00000681463
RefSeq Acc Id: XP_047301072   ⟸   XM_047445116
- Peptide Label: isoform X2
- UniProtKB: A0A7P0Z4M0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047301071   ⟸   XM_047445115
- Peptide Label: isoform X2
- UniProtKB: A0A7P0Z4M0 (UniProtKB/TrEMBL)
Protein Domains
DRBM   Protein kinase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P19525-F1-model_v2 AlphaFold P19525 1-551 view protein structure

Promoters
RGD ID:6860100
Promoter ID:EPDNEW_H3215
Type:initiation region
Name:EIF2AK2_1
Description:eukaryotic translation initiation factor 2 alpha kinase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38237,147,741 - 37,147,801EPDNEW
RGD ID:6797133
Promoter ID:HG_KWN:32208
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000325490
Position:
Human AssemblyChrPosition (strand)Source
Build 36237,189,924 - 37,190,424 (-)MPROMDB
RGD ID:6797132
Promoter ID:HG_KWN:32209
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000325489
Position:
Human AssemblyChrPosition (strand)Source
Build 36237,227,696 - 37,228,597 (-)MPROMDB
RGD ID:6797157
Promoter ID:HG_KWN:32212
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000379156,   ENST00000390013,   NM_002759,   OTTHUMT00000325488,   UC010FAD.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36237,237,586 - 37,238,147 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002759.3(EIF2AK2):c.786-2744C>G single nucleotide variant Lung cancer [RCV000092049] Chr2:37129155 [GRCh38]
Chr2:37356298 [GRCh37]
Chr2:2p22.2
uncertain significance
NM_002759.3(EIF2AK2):c.722+251A>T single nucleotide variant Lung cancer [RCV000092050] Chr2:37136732 [GRCh38]
Chr2:37363875 [GRCh37]
Chr2:2p22.2
uncertain significance
GRCh38/hg38 2p22.2-22.1(chr2:36809304-38309455)x3 copy number gain See cases [RCV000050907] Chr2:36809304..38309455 [GRCh38]
Chr2:37036447..38536597 [GRCh37]
Chr2:36889951..38390101 [NCBI36]
Chr2:2p22.2-22.1
uncertain significance
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 copy number gain See cases [RCV000052933] Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1
pathogenic
GRCh38/hg38 2p22.3-21(chr2:32849247-45016061)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052942]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052942]|See cases [RCV000052942] Chr2:32849247..45016061 [GRCh38]
Chr2:33074314..45243200 [GRCh37]
Chr2:32927818..45096704 [NCBI36]
Chr2:2p22.3-21
pathogenic
inv(2)(p21p23.2) inversion Endometrial carcinoma [RCV000659263] Chr2:29447680..42554394 [GRCh37]
Chr2:2p23.2-21
likely pathogenic
GRCh38/hg38 2p22.2-21(chr2:37000557-41954686)x1 copy number loss See cases [RCV000139443] Chr2:37000557..41954686 [GRCh38]
Chr2:37227700..42181826 [GRCh37]
Chr2:37081204..42035330 [NCBI36]
Chr2:2p22.2-21
pathogenic
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2
benign
GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3 copy number gain See cases [RCV000143682] Chr2:236816..45983232 [GRCh38]
Chr2:236816..46210371 [GRCh37]
Chr2:226816..46063875 [NCBI36]
Chr2:2p25.3-21
pathogenic
GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3 copy number gain See cases [RCV000454271] Chr2:27861707..60790985 [GRCh37]
Chr2:2p23.3-16.1
pathogenic
GRCh37/hg19 2p23.2-21(chr2:28069882-43543420)x3 copy number gain See cases [RCV000447397] Chr2:28069882..43543420 [GRCh37]
Chr2:2p23.2-21
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
t(2;2)(p23;p21)(hg19 chr2:g.42552694::ochr2:g.29446394) inversion Small cell lung carcinoma [RCV000576833] Chr2:29446394..42552694 [GRCh37]
Chr2:2p23.2-21
pathogenic
GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3 copy number gain not provided [RCV000682169] Chr2:34792916..56676541 [GRCh37]
Chr2:2p22.3-16.1
pathogenic
GRCh37/hg19 2p24.1-16.3(chr2:22665048-52850368)x3 copy number gain not provided [RCV000752875] Chr2:22665048..52850368 [GRCh37]
Chr2:2p24.1-16.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_001135651.3(EIF2AK2):c.326C>T (p.Ala109Val) single nucleotide variant Global developmental delay [RCV001004044]|Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome [RCV001281095] Chr2:37141616 [GRCh38]
Chr2:37368759 [GRCh37]
Chr2:2p22.2
uncertain significance
NM_001135651.3(EIF2AK2):c.290C>T (p.Ser97Phe) single nucleotide variant Global developmental delay [RCV001004045]|Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome [RCV001281094] Chr2:37141652 [GRCh38]
Chr2:37368795 [GRCh37]
Chr2:2p22.2
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3 copy number gain See cases [RCV001581099] Chr2:24601818..43466284 [GRCh37]
Chr2:2p23.3-21
pathogenic
NM_001135651.3(EIF2AK2):c.876T>C (p.Thr292=) single nucleotide variant not provided [RCV000970823] Chr2:37126321 [GRCh38]
Chr2:37353464 [GRCh37]
Chr2:2p22.2
benign
NM_001135651.3(EIF2AK2):c.31A>C (p.Met11Leu) single nucleotide variant EIF2AK2-related condition [RCV000991207]|Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome [RCV001093622] Chr2:37147776 [GRCh38]
Chr2:37374919 [GRCh37]
Chr2:2p22.2
pathogenic|uncertain significance
NM_001135651.3(EIF2AK2):c.973G>A (p.Gly325Ser) single nucleotide variant Cognitive impairment [RCV001009329]|Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome [RCV001281096] Chr2:37122600 [GRCh38]
Chr2:37349743 [GRCh37]
Chr2:2p22.2
likely pathogenic|uncertain significance
NM_001135651.3(EIF2AK2):c.1382C>G (p.Ser461Cys) single nucleotide variant Global developmental delay [RCV001009605]|Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome [RCV001093624] Chr2:37109291 [GRCh38]
Chr2:37336434 [GRCh37]
Chr2:2p22.2
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3 copy number gain not provided [RCV001532444] Chr2:24881528..43460021 [GRCh37]
Chr2:2p23.3-21
likely pathogenic
NM_001135651.3(EIF2AK2):c.398A>T (p.Tyr133Phe) single nucleotide variant EIF2AK2-related condition [RCV000991217]|Inborn genetic diseases [RCV001266299]|Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome [RCV001093623] Chr2:37139749 [GRCh38]
Chr2:37366892 [GRCh37]
Chr2:2p22.2
pathogenic|uncertain significance
NM_002759.3:c.1382C>G AND LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, single nucleotide variant LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME [RCV001093624]   pathogenic
NM_001135651.3(EIF2AK2):c.325G>T (p.Ala109Ser) single nucleotide variant Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome [RCV001093625] Chr2:37141617 [GRCh38]
Chr2:37368760 [GRCh37]
Chr2:2p22.2
pathogenic|uncertain significance
NM_001135651.3(EIF2AK2):c.95A>G (p.Asn32Ser) single nucleotide variant Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome [RCV001093626] Chr2:37147712 [GRCh38]
Chr2:37374855 [GRCh37]
Chr2:2p22.2
pathogenic|uncertain significance
NM_001135651.3(EIF2AK2):c.388G>A (p.Gly130Arg) single nucleotide variant Dystonia 33 [RCV001807542] Chr2:37141554 [GRCh38]
Chr2:37368697 [GRCh37]
Chr2:2p22.2
pathogenic|likely pathogenic
NM_001135651.3(EIF2AK2):c.95A>C (p.Asn32Thr) single nucleotide variant Dystonia 33 [RCV001807543] Chr2:37147712 [GRCh38]
Chr2:37374855 [GRCh37]
Chr2:2p22.2
pathogenic|uncertain significance
GRCh37/hg19 2p22.3-22.2(chr2:36432453-38182274)x3 copy number gain not provided [RCV001259149] Chr2:36432453..38182274 [GRCh37]
Chr2:2p22.3-22.2
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_001135651.3(EIF2AK2):c.388G>C (p.Gly130Arg) single nucleotide variant Dystonia 33 [RCV001807544] Chr2:37141554 [GRCh38]
Chr2:37368697 [GRCh37]
Chr2:2p22.2
pathogenic|likely pathogenic
NM_001135651.3(EIF2AK2):c.452A>G (p.Gln151Arg) single nucleotide variant Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome [RCV001527613] Chr2:37139695 [GRCh38]
Chr2:37366838 [GRCh37]
Chr2:2p22.2
likely pathogenic
NM_001135651.3(EIF2AK2):c.413G>C (p.Gly138Ala) single nucleotide variant Dystonia 33 [RCV002255106] Chr2:37139734 [GRCh38]
Chr2:37366877 [GRCh37]
Chr2:2p22.2
uncertain significance
NM_001135651.3(EIF2AK2):c.770A>G (p.Tyr257Cys) single nucleotide variant not provided [RCV002280284] Chr2:37135499 [GRCh38]
Chr2:37362642 [GRCh37]
Chr2:2p22.2
uncertain significance
NM_001135651.3(EIF2AK2):c.-183-125C>T single nucleotide variant not provided [RCV001774815] Chr2:37149148 [GRCh38]
Chr2:37376291 [GRCh37]
Chr2:2p22.2
benign
GRCh37/hg19 2p23.2-21(chr2:29899368-42441440) copy number loss not specified [RCV002053089] Chr2:29899368..42441440 [GRCh37]
Chr2:2p23.2-21
pathogenic
NM_001135651.3(EIF2AK2):c.971A>G (p.Asn324Ser) single nucleotide variant Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome [RCV001839320] Chr2:37122602 [GRCh38]
Chr2:37349745 [GRCh37]
Chr2:2p22.2
uncertain significance
NM_001135651.3(EIF2AK2):c.184G>A (p.Glu62Lys) single nucleotide variant not provided [RCV001953131] Chr2:37146909 [GRCh38]
Chr2:37374052 [GRCh37]
Chr2:2p22.2
uncertain significance
NM_001135651.3(EIF2AK2):c.120-18T>C single nucleotide variant not provided [RCV002091603] Chr2:37146991 [GRCh38]
Chr2:37374134 [GRCh37]
Chr2:2p22.2
likely benign
NM_001135651.3(EIF2AK2):c.135T>C (p.Val45=) single nucleotide variant not provided [RCV002153787] Chr2:37146958 [GRCh38]
Chr2:37374101 [GRCh37]
Chr2:2p22.2
likely benign
NM_001135651.3(EIF2AK2):c.593+12C>T single nucleotide variant not provided [RCV002195370] Chr2:37138497 [GRCh38]
Chr2:37365640 [GRCh37]
Chr2:2p22.2
benign
NM_001135651.3(EIF2AK2):c.1026G>A (p.Glu342=) single nucleotide variant not provided [RCV002208635] Chr2:37122547 [GRCh38]
Chr2:37349690 [GRCh37]
Chr2:2p22.2
benign
NM_001135651.3(EIF2AK2):c.891T>C (p.Arg297=) single nucleotide variant not specified [RCV002247804] Chr2:37126306 [GRCh38]
Chr2:37353449 [GRCh37]
Chr2:2p22.2
uncertain significance
NM_001135651.3(EIF2AK2):c.1413C>G (p.Leu471=) single nucleotide variant not provided [RCV002217517] Chr2:37109260 [GRCh38]
Chr2:37336403 [GRCh37]
Chr2:2p22.2
benign
NM_001135651.3(EIF2AK2):c.240+13_240+14insA insertion not provided [RCV002144468] Chr2:37146839..37146840 [GRCh38]
Chr2:37373982..37373983 [GRCh37]
Chr2:2p22.2
benign
GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 copy number loss See cases [RCV002287563] Chr2:11504318..111365996 [GRCh37]
Chr2:2p25.1-q13
pathogenic
NM_001135651.3(EIF2AK2):c.362G>T (p.Cys121Phe) single nucleotide variant not provided [RCV002286077] Chr2:37141580 [GRCh38]
Chr2:37368723 [GRCh37]
Chr2:2p22.2
uncertain significance
NM_001135651.3(EIF2AK2):c.268A>G (p.Thr90Ala) single nucleotide variant Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome [RCV002266565] Chr2:37141674 [GRCh38]
Chr2:37368817 [GRCh37]
Chr2:2p22.2
uncertain significance
NM_001135651.3(EIF2AK2):c.1631A>G (p.Glu544Gly) single nucleotide variant Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome [RCV002286597] Chr2:37107298 [GRCh38]
Chr2:37334441 [GRCh37]
Chr2:2p22.2
uncertain significance
NM_001135651.3(EIF2AK2):c.1504A>G (p.Ile502Val) single nucleotide variant not specified [RCV002282841] Chr2:37107503 [GRCh38]
Chr2:37334646 [GRCh37]
Chr2:2p22.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9437 AgrOrtholog
COSMIC EIF2AK2 COSMIC
Ensembl Genes ENSG00000055332 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000233057 ENTREZGENE
  ENSP00000233057.4 UniProtKB/Swiss-Prot
  ENSP00000378559 ENTREZGENE
  ENSP00000378559.2 UniProtKB/Swiss-Prot
  ENSP00000385014 ENTREZGENE
  ENSP00000385014.1 UniProtKB/Swiss-Prot
  ENSP00000497534.1 UniProtKB/Swiss-Prot
  ENSP00000505138.1 UniProtKB/Swiss-Prot
  ENSP00000505772 ENTREZGENE
  ENSP00000505772.1 UniProtKB/Swiss-Prot
  ENSP00000506024.1 UniProtKB/Swiss-Prot
  ENSP00000506203.1 UniProtKB/TrEMBL
  ENSP00000506455 ENTREZGENE
  ENSP00000506455.1 UniProtKB/TrEMBL
  ENSP00000506573.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000233057 ENTREZGENE
  ENST00000233057.9 UniProtKB/Swiss-Prot
  ENST00000395127 ENTREZGENE
  ENST00000395127.6 UniProtKB/Swiss-Prot
  ENST00000405334 ENTREZGENE
  ENST00000405334.5 UniProtKB/Swiss-Prot
  ENST00000647926.1 UniProtKB/Swiss-Prot
  ENST00000679507.1 UniProtKB/Swiss-Prot
  ENST00000679979 ENTREZGENE
  ENST00000679979.1 UniProtKB/TrEMBL
  ENST00000680273.1 UniProtKB/TrEMBL
  ENST00000681463.1 UniProtKB/Swiss-Prot
  ENST00000681507 ENTREZGENE
  ENST00000681507.1 UniProtKB/Swiss-Prot
  ENST00000681516.1 UniProtKB/TrEMBL
GTEx ENSG00000055332 GTEx
HGNC ID HGNC:9437 ENTREZGENE
Human Proteome Map EIF2AK2 Human Proteome Map
InterPro dsRBD_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EIF2AK2_DSRM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EIF2AK2_DSRM_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_kinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser/Thr_kinase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5610 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 5610 ENTREZGENE
OMIM 176871 OMIM
  618877 OMIM
  619687 OMIM
Pfam dsrm UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pkinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB EIF2AK2 RGD, PharmGKB
PROSITE DS_RBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_ST UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART DSRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  S_TKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A7P0TAL9_HUMAN UniProtKB/TrEMBL
  A0A7P0TBA9_HUMAN UniProtKB/TrEMBL
  A0A7P0Z4M0 ENTREZGENE, UniProtKB/TrEMBL
  B7ZKK7_HUMAN UniProtKB/TrEMBL
  E2AK2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q05CP4_HUMAN UniProtKB/TrEMBL
  Q6PK38_HUMAN UniProtKB/TrEMBL
  Q8IW76 ENTREZGENE, UniProtKB/TrEMBL
  Q9UIR4 ENTREZGENE
UniProt Secondary A8K3P0 UniProtKB/Swiss-Prot
  D6W584 UniProtKB/Swiss-Prot
  E9PC80 UniProtKB/Swiss-Prot
  Q52M43 UniProtKB/Swiss-Prot
  Q7Z6F6 UniProtKB/Swiss-Prot
  Q9UIR4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-01 EIF2AK2  eukaryotic translation initiation factor 2 alpha kinase 2    eukaryotic translation initiation factor 2-alpha kinase 2  Symbol and/or name change 5135510 APPROVED