AutismKB 2.0

Annotation Detail for EIF2AK3


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Basic Information Top
Gene Symbol:EIF2AK3 ( DKFZp781H1925,PEK,PERK,WRS )
Gene Full Name: eukaryotic translation initiation factor 2-alpha kinase 3
Band: 2p11.2
Quick LinksEntrez ID:9451; OMIM: 604032; Uniprot ID:E2AK3_HUMAN; ENSEMBL ID: ENSG00000172071; HGNC ID: 3255
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
258N-linked (GlcNAc...) (Potential).
715Phosphoserine.
Location(AA) Modifications Resource
257N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
981PhosphothreoninePhospho.ELM 6.0
Location(AA) Modification Resource
54O-linkedHMM predict
54O-linkedHMM predict
56O-linkedHMM predict
142Phosphoserine(CK1)HMM predict
243Phosphothreonine(PKC)HMM predict
295Phosphoserine(CK2)HMM predict
360Phosphotyrosine(INSR)HMM predict
386Phosphotyrosine(INSR)HMM predict
386Phosphotyrosine(Syk)HMM predict
409Phosphoserine(CDC2)HMM predict
436Phosphoserine(CDK)HMM predict
436Phosphoserine(CDC2)HMM predict
438O-linkedHMM predict
463Phosphotyrosine(INSR)HMM predict
479Phosphotyrosine(INSR)HMM predict
479Phosphotyrosine(Jak)HMM predict
479Phosphotyrosine(Syk)HMM predict
493Phosphothreonine(PKA)HMM predict
564Phosphotyrosine(Syk)HMM predict
564Phosphotyrosine(SRC)HMM predict
572N-linkedHMM predict
577N-linkedHMM predict
584Phosphotyrosine(INSR)HMM predict
685Phosphoserine(CDK)HMM predict
685Phosphoserine(CDC2)HMM predict
714Phosphoserine(CDK)HMM predict
714Phosphoserine(CDC2)HMM predict
720Phosphoserine(PKB)HMM predict
722Phosphoserine(ATM)HMM predict
732Phosphoserine(CK1)HMM predict
735Phosphoserine(ATM)HMM predict
751Phosphoserine(CK1)HMM predict
789Phosphoserine(IKK)HMM predict
817Phosphoserine(CK1)HMM predict
842O-linkedHMM predict
843Phosphoserine(CK2)HMM predict
844Phosphoserine(CK1)HMM predict
847Phosphoserine(CK1)HMM predict
851O-linkedHMM predict
853O-linkedHMM predict
853Phosphoserine(IKK)HMM predict
855Phosphoserine(CDC2)HMM predict
855Phosphoserine(ATM)HMM predict
869N-linkedHMM predict
878Phosphoserine(MAPK)HMM predict
884Phosphotyrosine(Jak)HMM predict
989Phosphotyrosine(INSR)HMM predict
1029Phosphothreonine(PKC)HMM predict
1050Phosphotyrosine(Syk)HMM predict
1058Phosphoserine(ATM)HMM predict
1060Phosphoserine(CDK)HMM predict
1093Phosphoserine(CK1)HMM predict
1093Phosphoserine(PKB)HMM predict
1093Phosphoserine(IKK)HMM predict
1095Phosphoserine(IKK)HMM predict
1095Phosphoserine(CK1)HMM predict
1097Phosphoserine(ATM)HMM predict
1106N-linkedHMM predict
1107N-linkedHMM predict
1110Phosphoserine(CDK)HMM predict
1110Phosphoserine(CDC2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004836
  • Location:chr2 88637375-88708073
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 88707615 88708904 1289 186
FOXA1 MCF7GSE15244 88708056 88709122 1066 516
H3ac HepG2E 88708661 88709122 461 818
LIN9 G0GSE7516 88708092 88708699 607 322
LIN9 SGSE7516 88707929 88708699 770 241
Nanog hESGSE18292 88718750 88719085 335 10844
PHF8 293TGSE20725 88707485 88708916 1431 127
PHF8 HeLaGSE20725 88707370 88709111 1741 167
PHF8 Hs68minusFBSGSE20725 88707635 88709273 1638 381
PHF8 Hs68plusFBSGSE20725 88707086 88709238 2152 89
TAF k562GSE8489 88708270 88709122 852 623
USF1 HepG2E 88716106 88717511 1405 8735
hScc1 BcellGSE12603 88708555 88708699 144 554
hScc1 BcellGSE12603 88709466 88709718 252 1519
p130 shRbQuiescentGSE19898 88707935 88709001 1066 395
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 88635036 88635231 195 2242
ER E2-MCF7GSE14664 88627191 88627227 36 10167
ER Fulvestrant-MCF7GSE14664 88627193 88627230 37 10164
Fos K562GSE19551 88625701 88626269 568 11391
Oct1 HelaGSE14283 88627194 88627232 38 10163
TFAP2C MCF7GSE21234 88630585 88631002 417 6582
USF1 HepG2E 88625571 88625746 175 11717
hScc1 G2GSE9613 88635036 88635231 195 2242
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 88671646 88672055 409 0
CTCF CD4SISSRdata 88671646 88672055 409 0
CTCF G2GSE9613 88671258 88672158 900 0
Fos K562GSE19551 88680469 88681264 795 0
H3K4me2 HCT116GSE10453 88705571 88706161 590 0
H3ac HepG2E 88704932 88707477 2545 0
P300 T30-glioblastomaGSE21026 88680544 88681277 733 0
Rb QuiescentGSE19898 88671536 88671681 145 0
SRF HelaGSE8489 88695334 88695946 612 0
TAF HelaGSE8489 88695372 88695946 574 0
TAF k562GSE8489 88705035 88706887 1852 0
hScc1 BcellGSE12603 88671434 88672081 647 0
hScc1 BcellGSE12603 88707362 88708129 767 0
hScc1 CdLSGSE12603 88671363 88672081 718 0
hScc1 G2GSE9613 88671325 88672315 990 0
Validated miRNA targets Top
Cis-Nats regulation Top

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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