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Aliases for TFAP2E Gene

Aliases for TFAP2E Gene

  • Transcription Factor AP-2 Epsilon 2 3 5
  • Transcription Factor AP-2 Epsilon (Activating Enhancer Binding Protein 2 Epsilon) 2 3
  • Activating Enhancer-Binding Protein 2-Epsilon 3 4
  • AP2-Epsilon 3 4
  • Adaptor-Related Protein Complex 2, Epsilon Subunit 3
  • Transcription Factor AP-2-Epsilon 3
  • AP2E 3

External Ids for TFAP2E Gene

Previous GeneCards Identifiers for TFAP2E Gene

  • GC00U920631
  • GC01P035709
  • GC01P035811
  • GC01P036038
  • GC01P034157

Summaries for TFAP2E Gene

GeneCards Summary for TFAP2E Gene

TFAP2E (Transcription Factor AP-2 Epsilon) is a Protein Coding gene. Among its related pathways are Gene Expression and Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and protein heterodimerization activity. An important paralog of this gene is TFAP2B.

UniProtKB/Swiss-Prot for TFAP2E Gene

  • 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).

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TFAP2E Gene

Genomics for TFAP2E Gene

Regulatory Elements for TFAP2E Gene

Enhancers for TFAP2E Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G035640 1.1 ENCODE 21.9 +68.1 68141 2.6 PKNOX1 FOXA2 MLX CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZMYM1 ENSG00000230163 SFPQ TFAP2E LOC653160 LOC105378647 C1orf216 THRAP3 TRAPPC3 LOC105378645
GH01G036133 1.4 Ensembl ENCODE dbSUPER 11.9 +562.4 562388 4.8 HDAC1 RB1 INSM2 RAD21 ZNF121 GATA2 ZNF143 FOS ZNF263 ZNF654 TRAPPC3 MAP7D1 ENSG00000271914 TFAP2E ADPRHL2 TEKT2 LOC100128093 AGO1 LSM10 COL8A2
GH01G035706 1.4 FANTOM5 Ensembl ENCODE 11.2 +134.6 134550 2.1 KLF17 GLIS2 KLF7 FOS EGR2 ZNF263 SP3 ZNF398 REST ZNF610 LOC105378645 TFAP2E ENSG00000232335 CLSPN KIAA0319L NCDN TEKT2 AGO1 GC01M035706 PIR49848
GH01G035636 1.2 Ensembl ENCODE 11.7 +64.5 64547 2.4 HDGF HDAC1 TBL1XR1 NFRKB FEZF1 ZBTB40 GATA2 SCRT2 RELB HCFC1 C1orf216 LOC105378645 TFAP2E KIAA0319L NCDN ENSG00000232335 CLSPN PSMB2 DLGAP3 GC01P035622
GH01G035267 1.1 ENCODE 12 -304.4 -304426 2.8 HDGF PKNOX1 CREB3L1 ARNT ZFP64 SIN3A FEZF1 ZNF2 YY1 ZNF766 ENSG00000271914 TFAP2E ENSG00000201542 ENSG00000201868 SFPQ AGO1 ZMYM6 TMEM35B LOC653160 KIAA0319L
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TFAP2E on UCSC Golden Path with GeneCards custom track

Genomic Location for TFAP2E Gene

Chromosome:
1
Start:
35,573,370 bp from pter
End:
35,595,328 bp from pter
Size:
21,959 bases
Orientation:
Plus strand

Genomic View for TFAP2E Gene

Genes around TFAP2E on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TFAP2E Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TFAP2E Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TFAP2E Gene

Proteins for TFAP2E Gene

  • Protein details for TFAP2E Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6VUC0-AP2E_HUMAN
    Recommended name:
    Transcription factor AP-2-epsilon
    Protein Accession:
    Q6VUC0
    Secondary Accessions:
    • Q8IW12

    Protein attributes for TFAP2E Gene

    Size:
    442 amino acids
    Molecular mass:
    46212 Da
    Quaternary structure:
    • Binds DNA as a dimer. Can form homodimers or heterodimers with other AP-2 family members (By similarity).
    SequenceCaution:
    • Sequence=AAH41175.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=EAX07409.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for TFAP2E Gene

Post-translational modifications for TFAP2E Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TFAP2E Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TFAP2E Gene

Domains & Families for TFAP2E Gene

Protein Domains for TFAP2E Gene

Suggested Antigen Peptide Sequences for TFAP2E Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6VUC0

UniProtKB/Swiss-Prot:

AP2E_HUMAN :
  • Belongs to the AP-2 family.
Family:
  • Belongs to the AP-2 family.
genes like me logo Genes that share domains with TFAP2E: view

No data available for Gene Families for TFAP2E Gene

Function for TFAP2E Gene

Molecular function for TFAP2E Gene

UniProtKB/Swiss-Prot 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).

Gene Ontology (GO) - Molecular Function for TFAP2E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IBA --
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA --
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IBA --
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA --
GO:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with TFAP2E: view
genes like me logo Genes that share phenotypes with TFAP2E: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for TFAP2E Gene

Localization for TFAP2E Gene

Subcellular locations from UniProtKB/Swiss-Prot for TFAP2E Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TFAP2E gene
Compartment Confidence
nucleus 4
cytosol 2

Gene Ontology (GO) - Cellular Components for TFAP2E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
genes like me logo Genes that share ontologies with TFAP2E: view

Pathways & Interactions for TFAP2E Gene

genes like me logo Genes that share pathways with TFAP2E: view

Gene Ontology (GO) - Biological Process for TFAP2E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription from RNA polymerase II promoter IEA --
GO:0042127 regulation of cell proliferation IBA --
GO:0045944 positive regulation of transcription from RNA polymerase II promoter IEA --
genes like me logo Genes that share ontologies with TFAP2E: view

No data available for SIGNOR curated interactions for TFAP2E Gene

Drugs & Compounds for TFAP2E Gene

No Compound Related Data Available

Transcripts for TFAP2E Gene

mRNA/cDNA for TFAP2E Gene

(2) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(4) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TFAP2E Gene

Transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TFAP2E Gene

No ASD Table

Relevant External Links for TFAP2E Gene

GeneLoc Exon Structure for
TFAP2E
ECgene alternative splicing isoforms for
TFAP2E

Expression for TFAP2E Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TFAP2E Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TFAP2E Gene

This gene is overexpressed in Brain - Cerebellum (x9.8) and Brain - Cerebellar Hemisphere (x8.9).

Protein differential expression in normal tissues from HIPED for TFAP2E Gene

This gene is overexpressed in Platelet (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TFAP2E Gene



Protein tissue co-expression partners for TFAP2E Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TFAP2E Gene:

TFAP2E

SOURCE GeneReport for Unigene cluster for TFAP2E Gene:

Hs.567844

mRNA Expression by UniProt/SwissProt for TFAP2E Gene:

Q6VUC0-AP2E_HUMAN
Tissue specificity: Expressed in skin, primary keratinocytes, immortalized keratinocytes, and HeLa cell line.
genes like me logo Genes that share expression patterns with TFAP2E: view

Primer Products

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for TFAP2E Gene

Orthologs for TFAP2E Gene

This gene was present in the common ancestor of animals.

Orthologs for TFAP2E Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TFAP2E 34 35
  • 99.68 (n)
cow
(Bos Taurus)
Mammalia TFAP2E 34 35
  • 91.57 (n)
rat
(Rattus norvegicus)
Mammalia Tfap2e 34
  • 87.78 (n)
mouse
(Mus musculus)
Mammalia Tfap2e 34 16 35
  • 87.48 (n)
oppossum
(Monodelphis domestica)
Mammalia TFAP2E 35
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TFAP2E 35
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves TFAP2E 34 35
  • 74.47 (n)
lizard
(Anolis carolinensis)
Reptilia TFAP2E 35
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tfap2e 34
  • 68.93 (n)
zebrafish
(Danio rerio)
Actinopterygii tfap2e 34 35
  • 68.05 (n)
zgc65882 34
fruit fly
(Drosophila melanogaster)
Insecta AP-2 35
  • 44 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea aptf-1 35
  • 37 (a)
OneToMany
Species where no ortholog for TFAP2E was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TFAP2E Gene

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

Paralogs for TFAP2E Gene

Paralogs for TFAP2E Gene

(4) SIMAP similar genes for TFAP2E Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with TFAP2E: view

Variants for TFAP2E Gene

Sequence variations from dbSNP and Humsavar for TFAP2E Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000198595 -- 35,573,870(+) TTTCA(G/T)GCTGG intron-variant
rs1000235833 -- 35,578,568(+) GGGGT(G/T)GGGAA intron-variant, nc-transcript-variant
rs1000494286 -- 35,595,648(+) GAGGG(C/T)AATGT downstream-variant-500B
rs1000670887 -- 35,592,397(+) GAAAT(G/T)TTTAT intron-variant
rs1000981639 -- 35,586,362(+) GACAG(A/G)TGACA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TFAP2E Gene

Variant ID Type Subtype PubMed ID
esv2746719 CNV deletion 23290073
esv2746730 CNV deletion 23290073
esv2746741 CNV deletion 23290073
esv2746752 CNV deletion 23290073
esv3335001 CNV duplication 20981092
nsv1012556 CNV gain 25217958
nsv433 CNV deletion 18451855

Variation tolerance for TFAP2E Gene

Residual Variation Intolerance Score: 66.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.29; 62.76% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TFAP2E Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TFAP2E

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TFAP2E Gene

Disorders for TFAP2E Gene

Relevant External Links for TFAP2E

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TFAP2E

No disorders were found for TFAP2E Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TFAP2E Gene

Publications for TFAP2E Gene

  1. Molecular cloning and characterization of AP-2 epsilon, a fifth member of the AP-2 family. (PMID: 14636996) Tummala R. … Sinha S. (Gene 2003) 2 3 4 64
  2. Depletion of TFAP2E attenuates adriamycin-mediated apoptosis in human neuroblastoma cells. (PMID: 28260105) Hoshi R. … Fujiwara K. (Oncol. Rep. 2017) 3 64
  3. Transcription Factor AP2I/: A Potential Predictor of Chemoresistance in Patients With Gastric Cancer. (PMID: 25810491) Sun J. … He J. (Technol. Cancer Res. Treat. 2016) 3 64
  4. TFAP2E hypermethylation was associated with survival advantage in patients with colorectal cancer. (PMID: 24996990) Zhang Z.M. … Zhao Y.S. (J. Cancer Res. Clin. Oncol. 2014) 3 64
  5. The transcription factor activating enhancer-binding protein epsilon (AP-2I/) regulates the core promoter of type II collagen (COL2A1). (PMID: 23331625) Niebler S. … Bosserhoff A.K. (FEBS J. 2013) 3 64

Products for TFAP2E Gene

Sources for TFAP2E Gene

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