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TFAP2E (transcription factor AP-2 epsilon)

Identity

Alias_namestranscription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)
Alias_symbol (synonym)AP2E
Other alias
HGNC (Hugo) TFAP2E
LocusID (NCBI) 339488
Atlas_Id 52562
Location 1p34.3  [Link to chromosome band 1p34]
Location_base_pair Starts at 35573370 and ends at 35595326 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)TFAP2E   30774
Cards
Entrez_Gene (NCBI)TFAP2E  339488  transcription factor AP-2 epsilon
AliasesAP2E
GeneCards (Weizmann)TFAP2E
Ensembl hg19 (Hinxton)ENSG00000116819 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000116819 [Gene_View]  chr1:35573370-35595326 [Contig_View]  TFAP2E [Vega]
ICGC DataPortalENSG00000116819
TCGA cBioPortalTFAP2E
AceView (NCBI)TFAP2E
Genatlas (Paris)TFAP2E
WikiGenes339488
SOURCE (Princeton)TFAP2E
Genetics Home Reference (NIH)TFAP2E
Genomic and cartography
GoldenPath hg38 (UCSC)TFAP2E  -     chr1:35573370-35595326 +  1p34.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TFAP2E  -     1p34.3   [Description]    (hg19-Feb_2009)
EnsemblTFAP2E - 1p34.3 [CytoView hg19]  TFAP2E - 1p34.3 [CytoView hg38]
Mapping of homologs : NCBITFAP2E [Mapview hg19]  TFAP2E [Mapview hg38]
OMIM614428   
Gene and transcription
Genbank (Entrez)AY326454 BC041175 BC150147
RefSeq transcript (Entrez)NM_178548
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TFAP2E
Cluster EST : UnigeneHs.567844 [ NCBI ]
CGAP (NCI)Hs.567844
Alternative Splicing GalleryENSG00000116819
Gene ExpressionTFAP2E [ NCBI-GEO ]   TFAP2E [ EBI - ARRAY_EXPRESS ]   TFAP2E [ SEEK ]   TFAP2E [ MEM ]
Gene Expression Viewer (FireBrowse)TFAP2E [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)339488
GTEX Portal (Tissue expression)TFAP2E
Human Protein AtlasENSG00000116819-TFAP2E [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6VUC0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6VUC0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6VUC0
Splice isoforms : SwissVarQ6VUC0
PhosPhoSitePlusQ6VUC0
Domains : Interpro (EBI)TF_AP2    TF_AP2_C   
Domain families : Pfam (Sanger)TF_AP-2 (PF03299)   
Domain families : Pfam (NCBI)pfam03299   
Conserved Domain (NCBI)TFAP2E
DMDM Disease mutations339488
Blocks (Seattle)TFAP2E
SuperfamilyQ6VUC0
Human Protein Atlas [tissue]ENSG00000116819-TFAP2E [tissue]
Peptide AtlasQ6VUC0
HPRD18174
IPIIPI00237907   
Protein Interaction databases
DIP (DOE-UCLA)Q6VUC0
IntAct (EBI)Q6VUC0
FunCoupENSG00000116819
BioGRIDTFAP2E
STRING (EMBL)TFAP2E
ZODIACTFAP2E
Ontologies - Pathways
QuickGOQ6VUC0
Ontology : AmiGORNA polymerase II regulatory region sequence-specific DNA binding  RNA polymerase II core promoter proximal region sequence-specific DNA binding  RNA polymerase II transcription factor activity, sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  nucleus  transcription from RNA polymerase II promoter  regulation of cell proliferation  protein homodimerization activity  positive regulation of transcription from RNA polymerase II promoter  protein heterodimerization activity  anatomical structure development  
Ontology : EGO-EBIRNA polymerase II regulatory region sequence-specific DNA binding  RNA polymerase II core promoter proximal region sequence-specific DNA binding  RNA polymerase II transcription factor activity, sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  nucleus  transcription from RNA polymerase II promoter  regulation of cell proliferation  protein homodimerization activity  positive regulation of transcription from RNA polymerase II promoter  protein heterodimerization activity  anatomical structure development  
NDEx NetworkTFAP2E
Atlas of Cancer Signalling NetworkTFAP2E
Wikipedia pathwaysTFAP2E
Orthology - Evolution
OrthoDB339488
GeneTree (enSembl)ENSG00000116819
Phylogenetic Trees/Animal Genes : TreeFamTFAP2E
HOVERGENQ6VUC0
HOGENOMQ6VUC0
Homologs : HomoloGeneTFAP2E
Homology/Alignments : Family Browser (UCSC)TFAP2E
Gene fusions - Rearrangements
Fusion: Tumor Portal TFAP2E
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTFAP2E [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TFAP2E
dbVarTFAP2E
ClinVarTFAP2E
1000_GenomesTFAP2E 
Exome Variant ServerTFAP2E
ExAC (Exome Aggregation Consortium)ENSG00000116819
GNOMAD BrowserENSG00000116819
Genetic variants : HAPMAP339488
Genomic Variants (DGV)TFAP2E [DGVbeta]
DECIPHERTFAP2E [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTFAP2E 
Mutations
ICGC Data PortalTFAP2E 
TCGA Data PortalTFAP2E 
Broad Tumor PortalTFAP2E
OASIS PortalTFAP2E [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTFAP2E  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTFAP2E
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch TFAP2E
DgiDB (Drug Gene Interaction Database)TFAP2E
DoCM (Curated mutations)TFAP2E (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TFAP2E (select a term)
intoGenTFAP2E
Cancer3DTFAP2E(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614428   
Orphanet
MedgenTFAP2E
Genetic Testing Registry TFAP2E
NextProtQ6VUC0 [Medical]
TSGene339488
GENETestsTFAP2E
Target ValidationTFAP2E
Huge Navigator TFAP2E [HugePedia]
snp3D : Map Gene to Disease339488
BioCentury BCIQTFAP2E
ClinGenTFAP2E
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD339488
Chemical/Pharm GKB GenePA134992283
Clinical trialTFAP2E
Miscellaneous
canSAR (ICR)TFAP2E (select the gene name)
Probes
Litterature
PubMed8 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTFAP2E
EVEXTFAP2E
GoPubMedTFAP2E
iHOPTFAP2E
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Nov 9 13:14:17 CET 2017

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