AutismKB 2.0

Annotation Detail for EIF2AK2


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Basic Information Top
Gene Symbol:EIF2AK2 ( EIF2AK1,MGC126524,PKR,PRKR )
Gene Full Name: eukaryotic translation initiation factor 2-alpha kinase 2
Band: 2p22.2
Quick LinksEntrez ID:5610; OMIM: 176871; Uniprot ID:E2AK2_HUMAN; ENSEMBL ID: ENSG00000055332; HGNC ID: 9437
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body1 / 7076114
blastocyst1 / 6231916
fetus14 / 56401224
neonate1 / 3109732
infant0 / 236200 
juvenile0 / 555560 
adult53 / 193912127
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor4 / 9417842
cervical tumor3 / 3436687
chondrosarcoma0 / 828230 
colorectal tumor4 / 11424635
esophageal tumor1 / 1729057
gastrointestinal tumor7 / 11936958
germ cell tumor10 / 26384537
glioma3 / 10688328
head and neck tumor0 / 1363020 
kidney tumor2 / 6895929
leukemia2 / 9584220
liver tumor5 / 9635951
lung tumor3 / 10312729
lymphoma1 / 7175513
non-neoplasia1 / 9725010
normal54 / 336030716
ovarian tumor3 / 7668239
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer1 / 1026809
retinoblastoma1 / 4635621
skin tumor7 / 12494956
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites2 / 4001549
bladder0 / 297570 
blood3 / 12347824
bone1 / 7165513
bone marrow1 / 4880120
brain15 / 110098913
cervix3 / 4817162
connective tissue2 / 14925513
ear1 / 1621261
embryonic tissue4 / 21572218
esophagus1 / 2020949
eye2 / 2110549
heart1 / 8962611
intestine6 / 23447225
kidney10 / 21177747
larynx0 / 241450 
liver5 / 20774324
lung11 / 33697432
lymph0 / 442700 
lymph node1 / 9161010
mammary gland4 / 15327126
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary3 / 10205129
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta7 / 28082524
prostate3 / 18934515
salivary gland0 / 201550 
skin10 / 21057447
spleen0 / 539520 
stomach5 / 9661951
testis3 / 3304429
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus9 / 23287838
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204211_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts19.15
Adipocyte14.7
AdrenalCortex23.6
Adrenalgland12.5
Amygdala11.35
Appendix20.65
AtrioventricularNode14.7
BDCA4+_DentriticCells14.6
Bonemarrow14.9
BronchialEpithelialCells12.45
CD105+_Endothelial24.9
CD14+_Monocytes24.6
CD19+_BCells(neg._sel.)24.2
CD33+_Myeloid19.5
CD34+17.4
CD4+_Tcells14.5
CD56+_NKCells15.6
CD71+_EarlyErythroid13.95
CD8+_Tcells13.2
CardiacMyocytes18.35
Caudatenucleus12.4
Cerebellum11.45
CerebellumPeduncles19.05
CiliaryGanglion14.7
CingulateCortex18.05
Colorectaladenocarcinoma13.6
DorsalRootGanglion17.75
FetalThyroid27.75
Fetalbrain14.45
Fetalliver12.25
Fetallung12.05
GlobusPallidus12.95
Heart14.7
Hypothalamus12.65
Kidney12.3
Leukemia_chronicMyelogenousK-56213
Leukemia_promyelocytic-HL-6011.6
Leukemialymphoblastic(MOLT-4)13.4
Liver18.85
Lung13.75
Lymphnode11.4
Lymphoma_burkitts(Daudi)18.2
Lymphoma_burkitts(Raji)14
MedullaOblongata15.35
OccipitalLobe12.95
OlfactoryBulb14.1
Ovary17.15
Pancreas11.65
PancreaticIslet15.35
ParietalLobe16.15
Pituitary22.9
Placenta12.3
Pons14.9
PrefrontalCortex17.1
Prostate15.25
Salivarygland12.9
SkeletalMuscle20.45
Skin17.3
SmoothMuscle21.25
Spinalcord13.15
SubthalamicNucleus14
SuperiorCervicalGanglion27.7
TemporalLobe15.3
Testis8.75
TestisGermCell10.8
TestisIntersitial14.35
TestisLeydigCell14.75
TestisSeminiferousTubule12.55
Thalamus14.2
Thymus12
Thyroid12.85
Tongue17.75
Tonsil26.15
Trachea12.25
TrigeminalGanglion62.25
Uterus11.95
UterusCorpus23.35
WholeBlood15.25
Wholebrain8.7
colon13.8
pineal_day16.28
pineal_night16.34
retina13.95
small_intestine12.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P142750
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala10.26 ± 0.26
Basal Forebrain10.34 ± 0.15
Basal Part of Pons10.12 ± 0.15
Cerebellar Cortex10.13 ± 0.14
Cerebellar Nuclei10.18 ± 0.24
Claustrum10.44 ± 0.31
Epithalamus10.35 ± 0.12
Frontal Lobe10.2 ± 0.21
Globus Pallidus10.59 ± 0.21
Hypothalamus10.46 ± 0.2
Insula10.22 ± 0.14
Limbic Lobe10.3 ± 0.22
Mesencephalon10.31 ± 0.2
Myelencephalon10.3 ± 0.24
Occipital Lobe10.52 ± 0.19
Parietal Lobe10.28 ± 0.18
Pontine Tegmentum10.29 ± 0.22
Striatum10.24 ± 0.2
Subthalamus10.28 ± 0.14
Temporal Lobe10.25 ± 0.15
Thalamus10.3 ± 0.18
White Matter10.06 ± 0.2
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Eif2ak2CBCerebellum100
100
Eif2ak2CTXCerebral cortex100
100
Eif2ak2HIPHippocampal region100
100
Eif2ak2HPFHippocampal formation100
100
Eif2ak2HYHypothalamus100
100
Eif2ak2LSXLateral septal complex100
100
Eif2ak2MBMidbrain100
100
Eif2ak2MYMedulla100
100
Eif2ak2OLFOlfactory bulb100
100
Eif2ak2PPons100
100
Eif2ak2PALPallidum100
100
Eif2ak2RHPRetrohippocampal region100
100
Eif2ak2sAMYStriatum-like amygdalar nuclei100
100
Eif2ak2STRStriatum100
100
Eif2ak2STRdStriatum dorsal region100
100
Eif2ak2STRvStriatum ventral region100
100
Eif2ak2THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
E2AK2_HUMAN_2 17 2 18 AGDLSAGFFMEELNTYR PRIDE
E2AK2_HUMAN_388 12 388 399 VLALELFEQITK PRIDE
PAp00005405 21 114 134 LTVNYEQCASGVHGPEGFHYK Peptide Atlas

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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