TFAP2A, transcription factor AP-2 alpha, 7020

N. diseases: 250; N. variants: 20
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome 		0.800 GeneticVariation disease BEFREE We also give descriptions of the mutations in the TFAP2A gene in our 2 new patients with BOF syndrome. 21250552 2010
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome 		0.800 GeneticVariation disease BEFREE Like IRF6 and GRHL3, rare variants in TFAP2A can also lead to syndromic orofacial clefting with lip pits (branchio-oculo-facial syndrome). 26332872 2016
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome 		0.800 GeneticVariation disease BEFREE Direct sequencing of the coding region of the TFAP2A gene revealed missense mutations in four BOFS patients. 25590586 2015
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome 		0.800 GeneticVariation disease BEFREE Mutations in the TFAP2A gene have been reported in patients with BOFS, prompting phenotype-genotype studies because of the variable clinical spectrum. 21728810 2011
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome 		0.800 GeneticVariation disease BEFREE Branchio-oculo-facial syndrome (BOFS) is a craniofacial disorder caused by TFAP2A mutations. 23307527 2013
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome 		0.800 AlteredExpression disease BEFREE (2019) use direct reprogramming, epigenetics, and chromatin architecture studies to demonstrate that developmental defects observed in a BOFS patient are caused by reduced expression of TFAP2A in neural crest cells due to the spatial separation of the promoter from its neural crest enhancers. 31051129 2019
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome 		0.800 GeneticVariation disease BEFREE DNA analysis of the TFAP2A gene associated with BOFS using DNA sequencing detected a mutation [c.763A>G (p.Arg255Gly)] in two unrelated patients. 20358615 2010
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome 		0.800 AlteredExpression disease BEFREE Second, we determined that TFAP2A is expressed in the lens, neural retina, nasal process, and epithelial lining of the oral cavity and palatal shelves of human and mouse embryos--sites consistent with the phenotype observed in patients with BOFS. 19685247 2009
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome 		0.800 GeneticVariation disease BEFREE Therefore, it remains unclear if all BOFS mutations result in similar changes to the AP-2α protein or if they each produce specific alterations that underlie the spectrum of phenotypes. 23578821 2013
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome 		0.800 GeneticVariation disease BEFREE A mutation in the TFAP2A gene associated with BOFS (heterozygous H384Y in exon 7) was found in both the proband and her mother. 22191992 2012
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome 		0.800 GeneticVariation disease BEFREE This report expands the ocular phenotypic spectrum of BOFS and adds to the small number of reported TFAP2A mutations. 20461149 2010
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome 		0.800 GeneticVariation disease BEFREE KCTD1 inhibits the transactivation of the transcription factor AP-2α (TFAP2A) via its BTB domain, and mutations in TFAP2A cause cutis aplasia in individuals with branchiooculofacial syndrome (BOFS), suggesting a potential overlap in the pathogenesis of SEN syndrome and BOFS. 23541344 2013
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome 		0.800 AlteredExpression disease BEFREE TFAP2A has been seen involved in orofacial development in mice; it is located in the NSCLP candidate region 6p24; it codes for a transcription factor which regulates expression of IRF6, a gene implied in NSCLP; finally, it is embroiled in the branchiooculofacial syndrome, that includes clefting as feature. 21781438 2013
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome 		0.800 GeneticVariation disease BEFREE Here, we present a BOFS patient carrying a heterozygous inversion with one breakpoint located within a topologically associating domain (TAD) containing enhancers essential for TFAP2A expression in human neural crest cells (hNCCs). 30982769 2019
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome 		0.800 GeneticVariation disease BEFREE Our report implies that the localization of mutations in TFAP2A might be responsible with the phenotypic findings in BOF syndrome. 19206157 2009
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome 		0.800 GeneticVariation disease BEFREE Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies. 19764023 2009
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome 		0.800 GeneticVariation disease BEFREE We report a 2-month-old boy with bilateral branchial cleft anomalies, low-set ears, and hydronephrosis who tested positive for a mutation in the TFAP2A gene (A256V) implicated in branchio-oculo-facial (BOF) syndrome. 22276601 2012
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome 		0.800 GeneticVariation disease BEFREE We conclude BOFS is caused by mutations involving TFAP2A. 18423521 2008
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.410 Biomarker disease BEFREE Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip. 18836445 2008
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.400 Biomarker disease BEFREE Moreover, AP-2alpha also participates in the control of colon and breast cancer cells sensitivity towards chemotherapeutic drugs. 19672266 2009
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.400 AlteredExpression disease BEFREE The activator protein 2 (AP-2) transcription factors are essential proteins for oestrogenic repression of the ERBB2 proto-oncogene in breast cancer cells. 14565844 2004
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.400 AlteredExpression disease BEFREE Ku proteins interact with activator protein-2 transcription factors and contribute to ERBB2 overexpression in breast cancer cell lines. 19906305 2009
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.400 Biomarker disease BEFREE In addition, miR-876-5p suppressed breast cancer cell migration and invasion. miR-876-5p was demonstrated to directly target transcription factor AP-2-α (TFAP2A) in breast cancer cells, and restoration of TFAP2A rescinded the suppressive role of miR-876-5p. 31316633 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.400 Biomarker disease BEFREE The transcription factor activator protein-2α (AP-2α) has been implicated in drug-resistance in breast cancer; however, its effects on MDR of gastric cancer are far from understood. 28439677 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.400 Biomarker disease BEFREE Activator protein-2 in carcinogenesis with a special reference to breast cancer--a mini review. 17330235 2007