AutismKB 2.0

Annotation Detail for DGCR2


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Basic Information Top
Gene Symbol:DGCR2 ( DGS-C,DKFZp686I1730,IDD,KIAA0163,LAN,SEZ-12 )
Gene Full Name: DiGeorge syndrome critical region gene 2
Band: 22q11.21
Quick LinksEntrez ID:9993; OMIM: 600594; Uniprot ID:IDD_HUMAN; ENSEMBL ID: ENSG00000070413; HGNC ID: 2845
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
149N-linked (GlcNAc...) (Potential).
196N-linked (GlcNAc...) (Potential).
381Phosphoserine.
Location(AA) Modifications Resource
149N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
196N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
381Phosphoserine.Swiss-Prot 53.0
381PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
61PhosphoserineHMM predict
90MethylarginineHMM predict
138Phosphotyrosine(INSR)HMM predict
149N-linkedHMM predict
196N-linkedHMM predict
226Phosphoserine(CK1)HMM predict
411Phosphothreonine(CDK)HMM predict
411Phosphothreonine(MAPK)HMM predict
462Phosphotyrosine(Syk)HMM predict
476Phosphoserine(IKK)HMM predict
510PhosphoserineHMM predict
513Phosphoserine(CK1)HMM predict
526O-linkedHMM predict
540ArginineHMM predict
542Phosphoserine(PKA)HMM predict
542SerineHMM predict
545Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005137
  • Location:chr22 17403800-17489903
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 17397695 17398460 765 5723
CTCF G2GSE9613 17401554 17401934 380 2057
NRSF JurkatGSE13047 17402831 17403818 987 476
NRSF mAbJurkat 17403143 17404127 984 166
NRSF-mono JurkatQuESTdata 17402830 17403810 980 481
NRSF-poly JurkatQuESTdata 17402766 17403684 918 576
RARA MCF7GSE15244 17392496 17393330 834 10888
STAT1 HeLaGSE12783 17383502 17384511 1009 19794
hScc1 BcellGSE12603 17394213 17394589 376 9400
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 17473849 17474042 193 0
CTCF CD4GSE12889 17483188 17483524 336 0
CTCF CD4SISSRdata 17473849 17474042 193 0
CTCF CD4SISSRdata 17483188 17483524 336 0
CTCF G2GSE9613 17403986 17404925 939 0
CTCF G2GSE9613 17410145 17410420 275 0
CTCF G2GSE9613 17425819 17426909 1090 0
CTCF G2GSE9613 17433985 17434307 322 0
CTCF G2GSE9613 17489397 17490052 655 0
FOXA1 MCF7GSE15244 17426518 17426981 463 0
FOXA1 MCF7GSE15244 17427815 17428307 492 0
H3K4me3 colorectalcancer 17488126 17488602 476 0
P300 T30-glioblastomaGSE21026 17489030 17490228 1198 0
PHF8 293TGSE20725 17488921 17490446 1525 0
PHF8 HeLaGSE20725 17488895 17490387 1492 0
PHF8 Hs68plusFBSGSE20725 17488873 17490383 1510 0
TFAP2C MCF7GSE21234 17420586 17421145 559 0
hScc1 BcellGSE12603 17423861 17424108 247 0
hScc1 BcellGSE12603 17427018 17427815 797 0
hScc1 BcellGSE12603 17431476 17432198 722 0
hScc1 BcellGSE12603 17452710 17453000 290 0
hScc1 BcellGSE12603 17473186 17474595 1409 0
hScc1 BcellGSE12603 17482124 17482822 698 0
hScc1 BcellGSE12603 17488961 17490020 1059 0
hScc1 CdLSGSE12603 17473472 17474096 624 0
p130 shRbQuiescentGSE19898 17434016 17434610 594 0
p63 keratinocytesGSE17611 17466402 17467189 787 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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