AutismKB 2.0

Annotation Detail for KDELR2


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Basic Information Top
Gene Symbol:KDELR2 ( ELP-1,ERD2.2,FLJ45532 )
Gene Full Name: KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2
Band: 7p22.1
Quick LinksEntrez ID:11014; OMIM: 609024; Uniprot ID:ERD22_HUMAN; ENSEMBL ID: ENSG00000136240; HGNC ID: 6305
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_006854
  • Location:chr7 6468794-6490224
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 6503586 6504537 951 13837
CTCF G2GSE9613 6508971 6509571 600 19047
CTCF G2GSE9613 6510041 6510188 147 19890
ETS1 JurkatGSE17954 6489803 6490843 1040 99
Myc K562GSE19551 6495801 6496180 379 5766
Nanog hESGSE18292 6490450 6490687 237 344
PHF8 293TGSE20725 6489696 6490856 1160 52
Sox2 hESGSE18292 6490522 6490690 168 382
hScc1 BcellGSE12603 6490372 6490598 226 261
hScc1 BcellGSE12603 6504237 6504573 336 14181
hScc1 G2GSE9613 6508080 6508345 265 17988
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 6467371 6467503 132 1358
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 6472275 6472456 181 0
CTCF G2GSE9613 6489463 6490572 1109 0
H3ac HepG2E 6489233 6489646 413 0
PHF8 HeLaGSE20725 6489233 6490708 1475 0
hScc1 G2GSE9613 6489499 6490442 943 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