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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TFAP2E Gene

protein-coding   GIFtS: 44
GCID: GC01P036038

transcription factor AP-2 epsilon (activating enhancer binding...

 Explore 1 disease affiliated with
TFAP2E via our new
 Human Malady Compendium 
Biological research products
for TFAP2E
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Transcription Factor AP-2 Epsilon (Activating Enhancer Binding Protein 2
Epsilon)1 2
AP2E1 2
Activating Enhancer-Binding Protein 2-Epsilon2 3
AP2-Epsilon1
Adaptor-Related Protein Complex 2, Epsilon Subunit2
Transcription Factor AP-2-Epsilon2

External Ids:    HGNC: 307741   Entrez Gene: 3394882   Ensembl: ENSG000001168197   OMIM: 6144285   UniProtKB: Q6VUC03   

Export aliases for TFAP2E gene to outside databases

Previous GC identifers: GC00U920631 GC01P035709 GC01P035811 GC01P034157


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: AP2E_HUMAN, Q6VUC0
Function: Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to
regulate transcription of selected genes. AP-2 factors bind to the consensus sequence 5'-GCCNNNGGC-3' and activate
genes involved in a large spectrum of important biological functions including proper eye, face, body wall, limb and
neural tube development. They also suppress a number of genes including MCAM/MUC18, C/EBP alpha and MYC. AP-2-epsilon
may play a role in the development of the CNS and in cartilage differentiation (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_032977.9  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TFAP2E gene promoter:
         GR   GR-beta   CUTL1   MIF-1   E4BP4   GATA-2   HEN1   Ik-2   GR-alpha   ZID   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTFAP2E promoter sequence
   Search SABiosciences Chromatin IP Primers for TFAP2E

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TFAP2E


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p34.3   Ensembl cytogenetic band:  1p34.3   HGNC cytogenetic band: 1p34.3

TFAP2E Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TFAP2E gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P036038:  view genomic region     (about GC identifiers)

Start:
36,038,971 bp from pter      End:
36,060,929 bp from pter
Size:
21,959 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: AP2E_HUMAN, Q6VUC0 (See protein sequence)
Recommended Name: Transcription factor AP-2-epsilon  
Size: 442 amino acids; 46212 Da
Subunit: Binds DNA as a dimer. Can form homodimers or heterodimers with other AP-2 family members (By similarity)
Subcellular location: Nucleus (By similarity)
Sequence caution: Sequence=AAH41175.1; Type=Erroneous initiation; Sequence=EAX07409.1; Type=Erroneous gene model
prediction;
Secondary accessions: Q8IW12

Explore the universe of human proteins at neXtProt for TFAP2E: NX_Q6VUC0

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6VUC0

  • TFAP2E Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_848643.2  
    ENSEMBL proteins: 
     ENSP00000362332  

    Human Recombinant Protein Products: 
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    Browse Proteins at Uscn

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--


    TFAP2E for ontologies           About GeneDecksing



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    Browse ELISAs and CLIAs at Uscn


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TFAP2E for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR004979 TF_AP2
     IPR013854 TF_AP2_C

    Graphical View of Domain Structure for InterPro Entry Q6VUC0

    ProtoNet protein and cluster: Q6VUC0

    1 Blocks protein family: IPB004979 Transcription factor AP-2 signature

    UniProtKB/Swiss-Prot: AP2E_HUMAN, Q6VUC0
    Similarity: Belongs to the AP-2 family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: AP2E_HUMAN, Q6VUC0
    Function: Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to
    regulate transcription of selected genes. AP-2 factors bind to the consensus sequence 5'-GCCNNNGGC-3' and activate
    genes involved in a large spectrum of important biological functions including proper eye, face, body wall, limb and
    neural tube development. They also suppress a number of genes including MCAM/MUC18, C/EBP alpha and MYC. AP-2-epsilon
    may play a role in the development of the CNS and in cartilage differentiation (By similarity)

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TFAP2E
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    hsa-miR-148b* hsa-miR-607 hsa-miR-1197 hsa-miR-25 hsa-miR-218 hsa-miR-1297 hsa-miR-3116 hsa-miR-3121-3p
    SwitchGear 3'UTR luciferase reporter plasmidTFAP2E 3' UTR sequence
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TFAP2E

    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0042803protein homodimerization activity IEA--
    GO:0046982protein heterodimerization activity IEA--


    TFAP2E for ontologies           About GeneDecksing


    Animal Models:
         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Tfap2e):
     nervous system  taste/olfaction 

    TFAP2E for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TFAP2E

    3 Interacting proteins for TFAP2E (Q6VUC03) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TFAP2AP055493I2D: score=1 
    TFAP2BQ924813I2D: score=1 
    TFAP2CQ927543I2D: score=1 
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0045944positive regulation of transcription from RNA polymerase II promoter IEA--


    TFAP2E for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TFAP2E
    Search CenterWatch for drugs/clinical trials and news about TFAP2E / AP2E 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TFAP2E gene: 
    NM_178548.3  

    Unigene Cluster for TFAP2E:

    Transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)
    Hs.567844  [show with all ESTs]
    Unigene Representative Sequence: AY326454
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000373235(uc010ohy.2)

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    hsa-miR-148b* hsa-miR-607 hsa-miR-1197 hsa-miR-25 hsa-miR-218 hsa-miR-1297 hsa-miR-3116 hsa-miR-3121-3p
    SwitchGear 3'UTR luciferase reporter plasmidTFAP2E 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TFAP2E
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    Additional cDNA sequence: 

    AY326454.1 BC041175.1 BC150147.1 

    2 DOTS entries:

    DT.97800372  DT.75100293 

    4 AceView cDNA sequences:

    AY326454 NM_178548 BC041175 BQ219020 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TFAP2E expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGGCAGAGCC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    TFAP2E expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    3 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainMedulla OblongataBrain
    Neural TubeMesencephalic Ventricular ZoneNeural Tube
    Neural TubeMetencephalonNeural Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See TFAP2E Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TFAP2E

    SOURCE GeneReport for Unigene cluster: Hs.567844

    UniProtKB/Swiss-Prot: AP2E_HUMAN, Q6VUC0
    Tissue specificity: Expressed in skin, primary keratinocytes, immortalized keratinocytes, and HeLa cell line

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TFAP2E

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for TFAP2E gene from 5/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves TFAP2E1 transcription factor AP-2 epsilon (activating enhancer more 77.44(n)
    80.09(a)
      419631  XM_417778.2  XP_417778.2 
    lizard
    (Anolis carolinensis)
    Reptilia TFAP2E6
    --
    84(a)
    1 ↔ 1
    GL343843.1(129817-142634)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc658822 hypothetical protein MGC65882 71.47(n)   393794  BC059800.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta AP-26
    AP-2
    39(a)
    1 → many
    3L(21579928-21606449)
    worm
    (Caenorhabditis elegans)
    Secernentea Y62E10A.176
    F28C6.26
    (see all 3)
    Protein F28C6.2
    (see all 3)
    19(a)
    15(a)
    (see all 3)
    possible ortholog
    possible ortholog
    (see all 3)
    IV(13413541-13415930)
    II(8594298-8596243)


    ENSEMBL Gene Tree for TFAP2E (if available)
    TreeFam Gene Tree for TFAP2E (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TFAP2E gene
    TFAP2C2  TFAP2D2  TFAP2B2  TFAP2A2  
    4 SIMAP similar genes for TFAP2E using alignment to 1 protein entry:     AP2E_HUMAN:
    TFAP2B    TFAP2C    TFAP2A    TFAP2D

    TFAP2E for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/386 NCBI SNPs in TFAP2E are shown (see all 386    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1145442941,2
    F,--36037181(+) CAAACA/GCAATC 1 -- us2k11Minor allele frequency- G:0.03WA 118
    rs118015351,2
    C,H,--36037192(+) CTGATC/GTCTGA 1 -- us2k1 tfbs32Minor allele frequency- G:0.04NA WA 120
    rs122391851,2
    C,F,--36037205(+) NNNNTC/TGAGCA 1 -- us2k11Minor allele frequency- T:0.03WA 118
    rs64259481,2
    C,F,A,H,--36037222(+) TTGCAG/AAGCTT 1 -- us2k126Minor allele frequency- A:0.36NS EA NA WA CSA 2708
    rs1891562361,2
    --36037259(+) CTCGCC/TGGCGG 1 -- us2k10--------
    rs1477830091,2
    --36037273(+) CAGAC-/TTCAGAA 1 -- us2k10--------
    rs1820392871,2
    --36037532(+) CCCCTA/GCTTTT 1 -- us2k10--------
    rs1179499191,2
    F,--36037611(+) GTTAGG/CCAGAG 1 -- us2k11Minor allele frequency- C:0.03EA 120
    rs783223501,2
    F,--36037659(+) GAGAAT/CAGTGA 1 -- us2k11Minor allele frequency- C:0.03EA 120
    rs1157600261,2
    F,--36037740(+) CATTTA/GACCTC 1 -- us2k11Minor allele frequency- G:0.03WA 118

    HapMap Linkage Disequilibrium report for TFAP2E (36038971 - 36060929 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for TFAP2E: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TFAP2E
    DNA2.0 Custom Variant and Variant Library Synthesis for TFAP2E

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TFAP2E for disorders           About GeneDecksing

    OMIM gene information: 614428    OMIM disorders: --

    1 disease for TFAP2E:    About MalaCards
    colorectal cancer


    Export disorders for TFAP2E gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for TFAP2E gene integrated from 9 sources:
    (articles sorted by number of sources associating them with TFAP2E)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and characterization of AP-2 epsilon, a fifth member of the AP-2 family. (PubMed id 14636996)1, 2, 3 Tummala R.... Sinha S. (2003)
    2. TFAP2E-DKK4 and chemoresistance in colorectal cancer. (PubMed id 22216841)1 Ebert M.P....Schmid R.M. (2012)
    3. Differentiation of zebrafish melanophores depends on transcription factors AP2 alpha and AP2 epsilon. (PubMed id 20862309)1 Van Otterloo E....Cornell R.A. (2010)
    4. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (2006)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    6. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 339488 HGNC: 30774 AceView: AP2E Ensembl:ENSG00000116819 euGenes: HUgn339488
    ECgene: TFAP2E H-InvDB: TFAP2E

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TFAP2E Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Activating_protein_2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TFAP2E gene:
    Search GeneIP for patents involving TFAP2E

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