1. Gene
  2. TFAP2E - transcription factor AP-2 epsilon Gene

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

TFAP2E Protein Structure

TF_AP-2

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

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  • 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

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