AutismKB 2.0

Annotation Detail for TFAP2C


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Basic Information Top
Gene Symbol:TFAP2C ( AP2-GAMMA,ERF1,TFAP2G,hAP-2g )
Gene Full Name: transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)
Band: 20q13.31
Quick LinksEntrez ID:7022; OMIM: 601602; Uniprot ID:AP2C_HUMAN; ENSEMBL ID: ENSG00000087510; HGNC ID: 11744
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
64WW-binding.
252Phosphoserine; by PKA (By similarity).
434Phosphoserine.
Location(AA) Modifications Resource
10Glycyl lysine isopeptide (Lys-Gly)(interchain with G-Cter in SUMO).Swiss-Prot 53.0
252Phosphoserine (by PKA) (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
41Phosphoserine(MAPK)HMM predict
41O-linkedHMM predict
47O-linkedHMM predict
70Phosphoserine(ATM)HMM predict
76Phosphotyrosine(Jak)HMM predict
98Phosphoserine(ATM)HMM predict
98O-linkedHMM predict
108Phosphoserine(PKG)HMM predict
219N-linkedHMM predict
232Phosphoserine(PKG)HMM predict
243Phosphothreonine(PKC)HMM predict
252Phosphoserine(PKA)HMM predict
271Phosphoserine(PKG)HMM predict
319Phosphotyrosine(Jak)HMM predict
335Phosphothreonine(PKC)HMM predict
367Phosphoserine(ATM)HMM predict
371Phosphothreonine(MAPK)HMM predict
371Phosphothreonine(CDC2)HMM predict
415Phosphotyrosine(INSR)HMM predict
427Phosphotyrosine(INSR)HMM predict
434Phosphoserine(IKK)HMM predict
435ProlineHMM predict
439N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_003222
  • Location:chr20 54637764-54647742
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 54635064 54635451 387 2507
ER MCF7GSE19013 54621384 54622085 701 16030
ER MCF7GSE19013 54625949 54626383 434 11599
H3K27me3 colorectalcancer 54631666 54631883 217 5990
H3K27me3 colorectalcancer 54632638 54634668 2030 4112
H3K27me3 colorectalcancer 54636344 54636812 468 1187
hScc1 BcellGSE12603 54636812 54638165 1353 276
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 54638596 54639108 512 0
ER MCF7GSE19013 54637543 54638785 1242 0
TFAP2C MCF7GSE21234 54637111 54639897 2786 0
hScc1 BcellGSE12603 54639612 54640243 631 0
hScc1 G2GSE9613 54638518 54639134 616 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