TFAP2E - transcription factor AP-2 epsilon Gene

Also Known as AP2E; AP-2epsilon

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 339488

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 Verweise 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

TF_AP-2: Transcription factor AP-2 (215 - 419)

  • 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

Pre-clinical Phase

Bioactive Molecules (1)
Art. -Nr. Produktname
Wirkung
Reinheit
Rare Diseases
HY-RS14411 TFAP2E Human Pre-designed siRNA Set A Pre-designed Set / 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
Others TFAP2E NCBI