TFAP2E transcription factor AP-2 epsilon [Homo sapiens (human)] - Gene

Summary

Official Symbol: TFAP2Eprovided by HGNC
Official Full Name: transcription factor AP-2 epsilonprovided by HGNC
Primary source: HGNC:HGNC:30774
See related: Ensembl:ENSG00000116819 MIM:614428; AllianceGenome:HGNC:30774
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AP2E; AP-2epsilon
Summary: Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in anatomical structure development; regulation of cell population proliferation; and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within positive regulation of transcription by RNA polymerase II. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in skin (RPKM 1.5), lymph node (RPKM 1.1) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p34.3

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (35573314..35595591)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (35436363..35458607)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (36038915..36060929)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

In the present study, it was demonstrated that hypermethylation of TFAP2E resulted in its reduced expression and 5FU chemoresistance in gastric cancer (GC) cells. miRNAs miR106a5p and miR421 were highly expressed and regulated the chemoresistance induced by TFAP2E methylation.
Title: TFAP2E methylation promotes 5‑fluorouracil resistance via exosomal miR‑106a‑5p and miR‑421 in gastric cancer MGC‑803 cells.
TFAP2E methylation and expression may not play a major role in predicting response to 5-FU-based chemotherapy in patients with colorectal cancer.
Title: TFAP2E Methylation and Expression Status Does Not Predict Response to 5-FU-based Chemotherapy in Colorectal Cancer.
Results showed that lower expression levels of TFAP2E are significantly associated with a shorter survival of patients with neuroblastoma indicating that TFAP2E acts as a tumor suppressor of neuroblastoma.
Title: Depletion of TFAP2E attenuates adriamycin-mediated apoptosis in human neuroblastoma cells.
Hypermethylation of TFAP2E was associated with lack of response to fluorouracil-based chemotherapy, indicating that it might be a potential predictor of treatment response in patients with gastric cancer.
Title: Transcription Factor AP2ε: A Potential Predictor of Chemoresistance in Patients With Gastric Cancer.
AP-2E was frequently hypermethylated in tumors from patients with colorectal cancer
Title: TFAP2E hypermethylation was associated with survival advantage in patients with colorectal cancer.
AP-2epsilon indirectly interacts with the core promoter of COL2A1 and subsequently inhibits its transcriptional activity, thus modulating cartilage development.
Title: The transcription factor activating enhancer-binding protein epsilon (AP-2ε) regulates the core promoter of type II collagen (COL2A1).
TFAP2E hypermethylation is associated with clinical nonresponsiveness to chemotherapy in colorectal cancer.
Title: TFAP2E-DKK4 and chemoresistance in colorectal cancer.
These findings reveal that Tfap2 activity, mediated redundantly by Tfap2a and Tfap2e, promotes melanophore differentiation in parallel with Mitf by an effector other than Kit.
Title: Differentiation of zebrafish melanophores depends on transcription factors AP2 alpha and AP2 epsilon.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in anatomical structure development	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell population proliferation	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of chromatin	ISA Inferred from Sequence Alignment more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: transcription factor AP-2-epsilon

Names: AP2-epsilon; activating enhancer-binding protein 2-epsilon; adaptor-related protein complex 2, epsilon subunit; transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.