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Aliases for TFAP2E Gene

Aliases for TFAP2E Gene

  • Transcription Factor AP-2 Epsilon 2 3
  • Transcription Factor AP-2 Epsilon (Activating Enhancer Binding Protein 2 Epsilon) 2 3 5
  • Activating Enhancer-Binding Protein 2-Epsilon 3 4
  • AP2-Epsilon 3 4
  • Adaptor-Related Protein Complex 2, Epsilon Subunit 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. 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 TFAP2C.

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 , 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

Promoters for TFAP2E Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs 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

Proteomics data for TFAP2E Gene at MOPED

Post-translational modifications for TFAP2E Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TFAP2E Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for TFAP2E (AP-2 epsilon)

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:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA --
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

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
Jensen Localization Image for TFAP2E Gene COMPARTMENTS Subcellular localization image for TFAP2E gene
Compartment Confidence
nucleus 4
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for TFAP2E Gene

Pathways & Interactions for TFAP2E Gene

SuperPathways for TFAP2E Gene

No Data Available

Interacting Proteins for TFAP2E Gene

Gene Ontology (GO) - Biological Process for TFAP2E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006366 transcription from RNA polymerase II promoter IEA --
genes like me logo Genes that share ontologies with TFAP2E: view

No data available for Pathways by source and 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

(1) 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:

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 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



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

Protein tissue co-expression partners for TFAP2E Gene

- Elite partner

Primer Products

In Situ Assay Products

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 35
  • 99.68 (n)
  • 99.76 (a)
TFAP2E 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TFAP2E 36
  • 95 (a)
OneToOne
TFAP2E 35
  • 91.57 (n)
  • 96.36 (a)
mouse
(Mus musculus)
Mammalia Tfap2e 16
Tfap2e 36
  • 93 (a)
OneToOne
Tfap2e 35
  • 87.48 (n)
  • 93.21 (a)
oppossum
(Monodelphis domestica)
Mammalia TFAP2E 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TFAP2E 36
  • 78 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tfap2e 35
  • 87.78 (n)
  • 93.89 (a)
chicken
(Gallus gallus)
Aves TFAP2E 35
  • 74.47 (n)
  • 77.05 (a)
TFAP2E 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TFAP2E 36
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tfap2e 35
  • 68.93 (n)
  • 76.35 (a)
zebrafish
(Danio rerio)
Actinopterygii tfap2e 36
  • 71 (a)
OneToOne
tfap2e 35
  • 68.05 (n)
  • 68.54 (a)
zgc65882 35
fruit fly
(Drosophila melanogaster)
Insecta AP-2 36
  • 44 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea aptf-1 36
  • 37 (a)
OneToMany
Species with no ortholog for TFAP2E:
  • 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
rs6425949 -- 35,583,808(+) TGACC(A/C/G)ACCTG intron-variant
rs6702647 -- 35,592,511(+) tcctg(C/G)ctcag intron-variant
rs12024802 -- 35,582,863(+) tttta(A/G)acttt intron-variant
rs12026963 -- 35,585,164(+) GTGGG(A/G)CTCAA intron-variant
rs11264178 -- 35,587,743(+) AGGGG(A/G)TATAG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv870679 CNV Loss 21882294
esv2746719 CNV Deletion 23290073
esv2746730 CNV Deletion 23290073
esv2746741 CNV Deletion 23290073
esv2746752 CNV Deletion 23290073
nsv433 CNV Loss 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

HapMap Linkage Disequilibrium report
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 67
  2. 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
  3. 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
  4. TFAP2E-DKK4 and chemoresistance in colorectal cancer. (PMID: 22216841) Ebert M.P. … Schmid R.M. (N. Engl. J. Med. 2012) 3
  5. Differentiation of zebrafish melanophores depends on transcription factors AP2 alpha and AP2 epsilon. (PMID: 20862309) Van Otterloo E. … Cornell R.A. (PLoS Genet. 2010) 3

Products for TFAP2E Gene

Sources for TFAP2E Gene

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