Human Gene TFAP2E (ENST00000373235.4_4) from GENCODE V47lift37
  Description: transcription factor AP-2 epsilon (from RefSeq NM_178548.4)
Gencode Transcript: ENST00000373235.4_4
Gencode Gene: ENSG00000116819.9_8
Transcript (Including UTRs)
   Position: hg19 chr1:36,038,915-36,060,929 Size: 22,015 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg19 chr1:36,039,179-36,060,277 Size: 21,099 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:36,038,915-36,060,929)mRNA (may differ from genome)Protein (442 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMGIOMIMPubMedReactomeUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: AP2E_HUMAN
DESCRIPTION: RecName: Full=Transcription factor AP-2-epsilon; Short=AP2-epsilon; AltName: Full=Activating enhancer-binding protein 2-epsilon;
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).
SUBUNIT: Binds DNA as a dimer. Can form homodimers or heterodimers with other AP-2 family members (By similarity).
SUBCELLULAR LOCATION: Nucleus (By similarity).
TISSUE SPECIFICITY: Expressed in skin, primary keratinocytes, immortalized keratinocytes, and HeLa cell line.
SIMILARITY: Belongs to the AP-2 family.
SEQUENCE CAUTION: Sequence=AAH41175.1; Type=Erroneous initiation; Sequence=EAX07409.1; Type=Erroneous gene model prediction;
WEB RESOURCE: Name=Wikipedia; Note=Activatin protein 2 entry; URL="http://en.wikipedia.org/wiki/Activating_protein_2";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 30.21 RPKM in Brain - Cerebellum
Total median expression: 147.29 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -124.20264-0.470 Picture PostScript Text
3' UTR -226.80652-0.348 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR004979 - TF_AP2
IPR013854 - TF_AP2_C

Pfam Domains:
PF03299 - Transcription factor AP-2

ModBase Predicted Comparative 3D Structure on Q6VUC0
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
Gene SorterGene Sorter Gene Sorter  
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0042803 protein homodimerization activity
GO:0046982 protein heterodimerization activity

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0042127 regulation of cell proliferation
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048856 anatomical structure development

Cellular Component:
GO:0005634 nucleus


-  Descriptions from all associated GenBank mRNAs
  AY326454 - Homo sapiens transcription factor AP-2 epsilon mRNA, complete cds.
BC041175 - Homo sapiens transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon), mRNA (cDNA clone MGC:49007 IMAGE:5786430), complete cds.
BC150147 - Homo sapiens cDNA clone IMAGE:40133229.
JD376463 - Sequence 357487 from Patent EP1572962.
JD523825 - Sequence 504849 from Patent EP1572962.
JD482438 - Sequence 463462 from Patent EP1572962.
JD201681 - Sequence 182705 from Patent EP1572962.
JD446163 - Sequence 427187 from Patent EP1572962.
JD264037 - Sequence 245061 from Patent EP1572962.
JD279040 - Sequence 260064 from Patent EP1572962.
JD206460 - Sequence 187484 from Patent EP1572962.
JD434017 - Sequence 415041 from Patent EP1572962.
JD154539 - Sequence 135563 from Patent EP1572962.
JD304981 - Sequence 286005 from Patent EP1572962.
JD171533 - Sequence 152557 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q6VUC0 (Reactome details) participates in the following event(s):

R-HSA-8864278 AP-2 (TFAP2) transcription factors form homo- and heterodimers
R-HSA-8864307 TFAP2 homo- and heterodimers bind CITED and EP300/CREBBP
R-HSA-8864343 KCTD1 binds TFAP2 homo- and heterodimers
R-HSA-8864361 KCTD15 binds TFAP2 homo- and heterodimers
R-HSA-8866907 Activation of the TFAP2 (AP-2) family of transcription factors
R-HSA-8866904 Negative regulation of activity of TFAP2 (AP-2) family transcription factors
R-HSA-8864260 Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors
R-HSA-212436 Generic Transcription Pathway
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: AP2E_HUMAN, ENST00000373235.1, ENST00000373235.2, ENST00000373235.3, NM_178548, Q6VUC0, Q8IW12, TFAP2E , uc318kpm.1, uc318kpm.2
UCSC ID: ENST00000373235.4_4
RefSeq Accession: NM_178548.4
Protein: Q6VUC0 (aka AP2E_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.