TFAP2E - transcription factor AP-2 epsilon Gene

Homo sapiens

Also known as AP2E; AP-2epsilon

Gene ID: 339488 | Gene type: protein coding

About TFAP2E

Cytogenetic location: 1p34.3 Genomic coordinates (GRCh38): 1:35,573,314-35,595,591 (from NCBI)

This gene has 5 transcripts (splice variants), 199 orthologues and 4 paralogues. Broad expression in skin (RPKM 1.5), lymph node (RPKM 1.1) and 22 other tissues.

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]

TFAP2E Products(1)

mRNA	Protein	Name
NM_178548.4	NP_848643.2	transcription factor AP-2-epsilon

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TFAP2E Protein Structure

TF_AP-2

0
100
200
300
400
442 a.a.

Protein Preferred Names

Protein Names

transcription factor AP-2-epsilon

AP2-epsilon

Related Diseases

Diseases

Alias

Branchiooculofacial Syndrome

Branchio-Oculo-Facial Syndrome	BOFS
Bof Syndrome	Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome
Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome	Branchial Clefts With Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, And Premature Aging
Branchial Clefts With Characteristic Facies Growth Retardation Imperforate Nasolacrimal Duct And Premature Aging	Bofs Syndrome
Lip Pseudocleft-Hemagiomatous Branchial Cyst Syndrome

Hypothyroidism, Congenital, Nongoitrous, 2

Thyroid Dysgenesis	CHNG2
Thyroid Hypoplasia	Thyroid Hemiagenesis
Thyroid Agenesis	Athyreotic Hypothyroidism
Rtsh	Thyrotropin Resistance
Hypothyroidism, Congenital, Due To Thyroid Dysgenesis Or Hypoplasia	Congenital Nongoitrous Hypothyroidism 2
Thyroid, Ectopic	Hypothyroidism, Congenital, Due To Thyroid Dysgenesis
Hypothyroidism, Athyreotic	Thyrotropin
Resistance To Thyrotropin	Congenital Hypothyroidism Due To Thyroid Dysgenesis Or Hypoplasia
Hypothyroidism, Congenital, Non-Goitrous, 2	Congenital Hypothyroidism Due To Thyroid Dysgenesis
Thyroid-Stimulating Hormone Resistance	Thyroid Ectopic
Ectopic Thyroid	Hypothyroidism, Congenital, Nongoitrous, 3
Thyroid Hormone Resistance Syndrome	Hypothyroidism, Congenital, Nongoitrous, 1

Char Syndrome

Patent Ductus Arteriosus With Facial Dysmorphism And Abnormal Fifth Digits

CHAR

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14411	TFAP2E Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	TFAP2E	VGNC	VGNC:35780
Macaca mulatta	TFAP2E	VGNC	VGNC:79878
Mus musculus	TFAP2E	MGD	MGI:2679630
Rattus norvegicus	TFAP2E	RGD	RGD:1563297
Felis catus	TFAP2E	VGNC	VGNC:80377

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