AutismKB 2.0

Annotation Detail for TFAP2B


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Basic Information Top
Gene Symbol:TFAP2B ( AP-2B,AP2-B,MGC21381 )
Gene Full Name: transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
Band: 6p12.3
Quick LinksEntrez ID:7021; OMIM: 601601; Uniprot ID:AP2B_HUMAN; ENSEMBL ID: ENSG00000008196; HGNC ID: 11743
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
258Phosphoserine; by PKA (By similarity).
Location(AA) Modifications Resource
10Glycyl lysine isopeptide (Lys-Gly)(interchain with G-Cter in SUMO)(Probable).Swiss-Prot 53.0
247Phosphoserine (by PKA) (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
11Phosphotyrosine(Syk)HMM predict
15SulfotyrosineHMM predict
15Phosphotyrosine(Syk)HMM predict
30Phosphoserine(ATM)HMM predict
30Phosphoserine(CK1)HMM predict
30Phosphoserine(IKK)HMM predict
40Phosphotyrosine(Jak)HMM predict
41O-linkedHMM predict
42O-linkedHMM predict
49Phosphothreonine(CDK)HMM predict
51O-linkedHMM predict
52O-linkedHMM predict
170Phosphoserine(CK2)HMM predict
170Phosphoserine(CK1)HMM predict
175N-linkedHMM predict
176N-linkedHMM predict
180N-linkedHMM predict
227Phosphoserine(PKG)HMM predict
238Phosphothreonine(PKC)HMM predict
247Phosphoserine(PKA)HMM predict
266Phosphoserine(PKG)HMM predict
293N-linkedHMM predict
314Phosphotyrosine(EGFR)HMM predict
423N-linkedHMM predict
424N-linkedHMM predict
428N-linkedHMM predict
432O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_003221
  • Location:chr6 50894541-50919633
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 50891342 50891965 623 2888
hScc1 BcellGSE12603 50891547 50892000 453 2768
hScc1 CdLSGSE12603 50891104 50892118 1014 2931
hScc1 G2GSE9613 50891370 50892050 680 2832
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 50926124 50926515 391 6686
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 50895300 50895840 540 0
CTCF G2GSE9613 50899142 50899420 278 0
H3K27me3 colorectalcancer 50895402 50896958 1556 0
TFAP2C MCF7GSE21234 50918100 50918525 425 0
hScc1 BcellGSE12603 50898875 50899420 545 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