TFAP2A

Summary

TFAP2A (transcription factor AP-2 alpha, HGNC:11742) is a protein-coding gene on chromosome 6p24.3, encoding Transcription factor AP-2-alpha (P05549). Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes.

The protein encoded by this gene is a transcription factor that binds the consensus sequence 5’-GCCNNNGGC-3’. The encoded protein functions as either a homodimer or as a heterodimer with similar family members. This protein activates the transcription of some genes while inhibiting the transcription of others. Defects in this gene are a cause of branchiooculofacial syndrome (BOFS). Three transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 7020 — RefSeq curated summary.

At a glance

• Gene–disease (curated): branchiooculofacial syndrome (Definitive, GenCC)
• GWAS associations: 10
• Clinical variants (ClinVar): 250 total — 13 pathogenic, 19 likely-pathogenic
• Phenotypes (HPO): 95
• Transcription factor: yes — 337 downstream targets (CollecTRI)
• MANE Select transcript: NM_001372066

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11742
Approved symbol	TFAP2A
Name	transcription factor AP-2 alpha
Location	6p24.3
Locus type	gene with protein product
Status	Approved
Aliases	AP-2, AP-2alpha
Ensembl gene	ENSG00000137203
Ensembl biotype	protein_coding
OMIM	107580
Entrez	7020

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 9 protein_coding, 5 protein_coding_CDS_not_defined, 3 retained_intron, 2 nonsense_mediated_decay

ENST00000319516, ENST00000379608, ENST00000379613, ENST00000461628, ENST00000462727, ENST00000464323, ENST00000465858, ENST00000466073, ENST00000473652, ENST00000474952, ENST00000475264, ENST00000478375, ENST00000482890, ENST00000486038, ENST00000488193, ENST00000489805, ENST00000490875, ENST00000497266, ENST00000498450

RefSeq mRNA: 3 — MANE Select: NM_001372066 NM_001032280, NM_001042425, NM_001372066

CCDS: CCDS34337, CCDS43422, CCDS4510

Canonical transcript exons

ENST00000379613 — 7 exons

Exon	Start	End
ENSE00001884113	10414941	10415074
ENSE00001948777	10396677	10398705
ENSE00003586255	10402492	10402610
ENSE00003598476	10404508	10404739
ENSE00003605326	10409901	10410335
ENSE00003614680	10406793	10406844
ENSE00003647709	10400448	10400589

Expression profiles

Bgee: expression breadth ubiquitous, 220 present calls, max score 98.51.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 26.4716 / max 658.6553, expressed in 1063 samples.

FANTOM5 promoters (26 alternative TSS)

Promoter ID	TPM avg	Samples expressed
71672	8.6419	888
71678	6.9847	672
71679	3.0953	491
71669	2.2945	642
71671	1.2028	466
71685	0.7403	238
71675	0.6563	261
71686	0.4969	231
71677	0.4599	235
71670	0.3438	171

Top tissues by expression

281 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
upper leg skin	UBERON:0004262	98.51	gold quality
gingival epithelium	UBERON:0001949	98.19	gold quality
gingiva	UBERON:0001828	97.73	gold quality
tongue squamous epithelium	UBERON:0006919	97.61	gold quality
upper arm skin	UBERON:0004263	97.42	gold quality
mammalian vulva	UBERON:0000997	97.18	gold quality
skin of hip	UBERON:0001554	96.60	gold quality
skin of abdomen	UBERON:0001416	96.32	gold quality
zone of skin	UBERON:0000014	96.23	gold quality
cervix squamous epithelium	UBERON:0006922	96.08	silver quality
skin of leg	UBERON:0001511	95.90	gold quality
hair follicle	UBERON:0002073	95.86	gold quality
epithelium of mammary gland	UBERON:0003244	95.62	gold quality
mammary duct	UBERON:0001765	95.35	gold quality
nipple	UBERON:0002030	95.22	gold quality
placenta	UBERON:0001987	95.07	gold quality
squamous epithelium	UBERON:0006914	94.79	gold quality
penis	UBERON:0000989	93.79	gold quality
palpebral conjunctiva	UBERON:0001812	93.71	gold quality
corpus epididymis	UBERON:0004359	93.47	gold quality
lower esophagus mucosa	UBERON:0035834	92.84	gold quality
esophagus squamous epithelium	UBERON:0006920	92.72	gold quality
esophagus mucosa	UBERON:0002469	92.64	gold quality
mouth mucosa	UBERON:0003729	92.49	gold quality
minor salivary gland	UBERON:0001830	92.12	gold quality
epithelium of esophagus	UBERON:0001976	92.05	gold quality
saliva-secreting gland	UBERON:0001044	91.87	gold quality
oral cavity	UBERON:0000167	91.27	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	90.70	gold quality
cervix epithelium	UBERON:0004801	90.11	gold quality

Single-cell (SCXA)

Detected in 10 experiment(s), a significant marker in 9.

Experiment	Marker?	Max mean expression
E-MTAB-11121	yes	848.04
E-MTAB-6701	yes	120.41
E-HCAD-10	yes	25.56
E-GEOD-135922	yes	24.39
E-MTAB-8142	yes	16.83
E-ANND-3	yes	16.01
E-MTAB-7316	yes	14.04
E-MTAB-9388	yes	7.87
E-GEOD-137537	yes	5.67
E-ENAD-20	no	228.51

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

337 targets.

Target	Regulation
ABCA1	Unknown
ABL1
ACADVL	Unknown
ACAN	Repression
ACHE	Repression
ADA
ADAM2
ADAMTS7
ADD1
ADIPOQ
ADM	Unknown
ADRA1A	Unknown
ADRA2B	Unknown
AFP
AGXT
AMY2A
ANXA5
AP1
AP3B1
APAF1
APOE
APP	Unknown
AQP1
ASXL1
ASXL2
AXIN1
AXL
BACE1	Unknown
BAG3
BCL2	Repression

JASPAR motifs

Motif	Name	Family
MA0003.1	TFAP2A	AP-2
MA0003.2	TFAP2A	AP-2
MA0003.3	TFAP2A	AP-2
MA0003.4	TFAP2A	AP-2
MA0003.5	TFAP2A	AP-2
MA0810.1	TFAP2A	AP-2
MA0810.2	TFAP2A	AP-2
MA0872.1	TFAP2A	AP-2

JASPAR matrix evidence (PMIDs): PMID:16420676, PMID:23332764

Upstream regulators (CollecTRI, top): AEBP1, CEBPB, CEBPG, CREB1, DLX4, E2F1, ESR1, ETS1, GRHL3, KLF12, KLF9, KMT2A, LHX2, LRRFIP1, NFIC, NFKB, NKX3-1, NR1H3, NR2F2, POU1F1, POU2F1, RARA, RXRA, SP1, SP2, SP3, SPIC, STAT5A, TBX15, TFAP2A, TFAP2B, TFAP2C, TP53, USF1, WT1, YY1, ZFHX2, ZNF91

miRNA regulators (miRDB)

146 targeting TFAP2A, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-4775	99.98	75.00	6394
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-424-5P	99.89	71.90	2641

Literature-anchored findings (GeneRIF, showing 40)

• Transcription of cholesterol side-chain cleavage cytochrome P450 in the placenta: activating protein-2 assumes the role of steroidogenic factor-1 by binding to an overlapping promoter element. (PMID:12145340)
• Mutation analyses of the N-terminus region showed that activation and squelching were intricately linked; suggesting that squelching causes transformation and that the factors that are sequestered at this region are critical in tumorigenesis. (PMID:12203368)
• Results indicate that the tumor suppressor activity of AP2alpha is mediated through a direct interaction with p53. (PMID:12226108)
• AP2 regulates human reduced folate carrier gene expression (PMID:12228234)
• findings underline an essential role of AP-2/Sp1 recognition sites in UVB-mediated VEGF expression by the keratinocyte-derived cell line HaCaT (PMID:12358602)
• Alterations in the binding activity of AP-2 transcription factor to the sodium/iodide symporter (NIS) promoter results at least in part in reduced expression and transport of NIS in thyroid tumors. (PMID:12475396)
• AP-2alpha gene expression in the placenta is enhanced by a cis-acting element at nucleotides -1279 to -1139 that contains a critical Ets1-binding site. (PMID:12843180)
• neither clathrin nor AP-2 is essential for the internalization of epidermal growth factor (PMID:12960147)
• analysis of the PAR-1 promoter regions bp -365 to -329 and bp -206 to -180 demonstrated that Sp1 was predominantly bound to the PAR-1 promoter in metastatic cells, whereas AP-2 was bound to the PAR-1 promoter in nonmetastatic cells. (PMID:12975361)
• Gene expression regulation, developmental, and enhancer elements (genetics) associated with AP2-alpha were identified. (PMID:14517991)
• AP-2alpha inhibits the growth of cells by inducing cell cycle arrest and apoptosis (PMID:14551210)
• Molecular events resulting from loss of AP-2 in the prostate epithelium has implications for the understanding and prevention of the onset of prostate cancer. (PMID:14744778)
• AP-2alpha as a novel cardiac regulator implicated in the activation of apoptosis in idiopathic-dilated cardiomyopathy (PMID:14752511)
• AP-2alpha plays a critical role for induction & repression of genes that comprise postsyncytialization gene expression programs of trophoblast differentiation & maturation. It is not required for cytotrophoblast cell fusion or syncytin expression. (PMID:15039486)
• AP-2alpha binds directly to APC, stabilizes APC/beta-catenin interaction in the nucleus, attenuates beta-catenin/TCF4 interaction, and inhibits TOPflash reporter activity in human colorectal cancer cells (PMID:15331612)
• c-Src has a role in regulating the dissociation of AP-2 from agonist-occupied AT1R and beta-arrestin during the clathrin-mediated internalization of receptors (PMID:15498833)
• Expression of MMP-2 and MMP-9 in breast cancer seems to be partly related to expression of AP-2 and HER2 (PMID:15569994)
• AP-2alpha may have a direct role in glioma tumorigenicity (PMID:15671555)
• USF1 and USF2 mRNA levels were reduced in non-small cell lung carcinomas; AP2-alpha levels were elevated; regression analysis demonstrated that reduced USF2 mRNA & increased AP2-alpha mRNA levels were predictive of downregulated PIGR mRNA expression (PMID:15864740)
• YY1 cooperates with AP-2 to stimulate ERBB2 promoter activity through the AP-2 binding sites (PMID:15870067)
• AP-2alpha associates with the Fmr1 promoter in vivo and selectively regulates Fmr1 transcription during embryonic development (PMID:15930016)
• unusual stability is main mechanism that raises levels of AP-2 proteins; defective ubiquitin-dependent proteasomal-degradation pathway is possibly prime cause that affects the HER-2/neu gene and culminates in breast cancer (PMID:16108032)
• AP-2alpha and Sp1 are strong transcriptional regulators of KiSS-1 (PMID:16260418)
• The AP-1 site in the u-PAR promoter seems to be a less tumor-specific regulator than the Sp1 and AP-2 alpha. (PMID:16361535)
• Transgenic expression of Tcfap2a in the developing frontal nasal process and limb bud mesenchyme is mediated by a highly conserved element of this tissue specific enhancer. (PMID:16502414)
• AP-2alpha induces apoptosis by down-regulating Bcl-2 and utilizing a bax/cytochrome c/Apaf1/caspase 9-dependent mitochondrial pathway (PMID:16533807)
• AP-2alpha and AP-2gamma interact with p53 both physically and functionally. (PMID:16636674)
• PIPKIgamma661 enzyme is involved in the AP2-mediated endocytosis of transferrin. (PMID:16707488)
• expression of either AP-2gamma or AP-2alpha induces p21 and inhibits breast carcinoma cell growth (PMID:16867219)
• Loss of AP-2 is a crucial event in the progression of human melanoma and contributes to the acquisition of the metastatic phenotype via upregulation of PAR-1. (PMID:16946713)
• These findings suggest that GPx-1 inhibits UVA-induced AP-2alpha expression by suppressing the accumulation of H(2)O(2). (PMID:17097614)
• data provide evidence that AP-2alpha acts as a tumor suppressor gene in colon cancer (PMID:17224907)
• Activating protein transcription factor 2 (AP2)alpha forms a complex with NPM during retinoic-acid-induced cell differentiation. (PMID:17318229)
• Data suggest that activator protein 2alpha and peroxisome-proliferator-activated receptor alpha may be especially involved in the ozone-inducible up-regulation mechanism of bombesin receptor subtype 3 expression. (PMID:17355223)
• Rad51 has a role in chemoresistance in human soft tissue sarcoma cells along with p53 and activator protein 2 transcriptional regulation (PMID:17513613)
• Doxazosin inhibits AP2alpha activity independent of alpha(1)-adrenoceptor blockade and increases the ABCA1 expression and HDL biogenesis (PMID:17556657)
• AP-2alpha is an important in vivo negative regulator of MUC4 expression in human pancreatic tissue (PMID:17621592)
• Role for the transcription factor AP-2alpha in the regulation of APP gene expression in human keratinocytes. (PMID:17651731)
• AP-2alpha transcription factor regulates tumor cell migration and apoptosis (PMID:17695722)
• Data indicated that the synergistic activation of the human AM gene promoter by Sp1 and AP-2alpha may be mediated by the binding of Sp1 to the promoter region and the interaction with AP-2alpha, which binds to the promoter region. (PMID:17719138)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	tfap2a	ENSDARG00000059279
mus_musculus	Tfap2a	ENSMUSG00000021359
rattus_norvegicus	Tfap2a	ENSRNOG00000015522
drosophila_melanogaster	TfAP-2	FBGN0261953
caenorhabditis_elegans		WBGENE00009202
caenorhabditis_elegans		WBGENE00009203
caenorhabditis_elegans		WBGENE00013383
caenorhabditis_elegans		WBGENE00019424

Paralogs (4): TFAP2B (ENSG00000008196), TFAP2D (ENSG00000008197), TFAP2C (ENSG00000087510), TFAP2E (ENSG00000116819)

Protein

Protein identifiers

Transcription factor AP-2-alpha — P05549 (reviewed: P05549)

Alternative names: AP-2 transcription factor, Activating enhancer-binding protein 2-alpha, Activator protein 2

All UniProt accessions (9): P05549, A0A6E1XE14, C1K3N0, C9J6N8, C9JXZ2, F8WDC8, F8WEX2, H7C4N4, H7C5E5

UniProt curated annotations — full annotation on UniProt →

Function. Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes. AP-2 factors bind to the consensus sequence 5’-GCCNNNGGC-3’ and activate genes involved in a large spectrum of important biological functions including proper eye, face, body wall, limb and neural tube development. They also suppress a number of genes including MCAM/MUC18, C/EBP alpha and MYC. AP-2-alpha is the only AP-2 protein required for early morphogenesis of the lens vesicle. Together with the CITED2 coactivator, stimulates the PITX2 P1 promoter transcription activation. Associates with chromatin to the PITX2 P1 promoter region.

Subunit / interactions. Binds DNA as a dimer. Can form homodimers or heterodimers with other AP-2 family members. Interacts with WWOX. Interacts with CITED4. Interacts with UBE2I. Interacts with RALBP1 in a complex also containing EPN1 and NUMB during interphase and mitosis. Interacts with KCTD1; this interaction represses transcription activation. Interacts (via C-terminus) with CITED2 (via C-terminus); the interaction stimulates TFAP2A-transcriptional activation. Interacts (via N-terminus) with EP300 (via N-terminus); the interaction requires CITED2. Interacts with KCTD15; this interaction inhibits TFAP2A transcriptional activation.

Subcellular location. Nucleus.

Post-translational modifications. Sumoylated on Lys-10; which inhibits transcriptional activity.

Disease relevance. Branchiooculofacial syndrome (BOFS) [MIM:113620] A syndrome characterized by growth retardation, bilateral branchial sinus defects with hemangiomatous, scarred skin, cleft lip with or without cleft palate, pseudocleft of the upper lip, nasolacrimal duct obstruction, low set ears with posterior rotation, a malformed, asymmetrical nose with a broad bridge and flattened tip, conductive or sensorineural deafness, ocular and renal anomalies. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. The PPxY motif mediates interaction with WWOX.

Miscellaneous. May be an aberrantly processed form with no significant distribution in vivo.

Similarity. Belongs to the AP-2 family.

Isoforms (4)

UniProt ID	Names	Canonical?
P05549-1	1, AP-2A	yes
P05549-5	2
P05549-2	4, AP-2B
P05549-6	5

RefSeq proteins (3): NP_001027451, NP_001035890, NP_001358995* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004979	TF_AP2	Family
IPR008121	TF_AP2_alpha_N	Domain
IPR013854	TF_AP2_C	Domain

Pfam: PF03299

UniProt features (36 total): helix 11, cross-link 4, sequence variant 4, compositionally biased region 4, region of interest 3, splice variant 3, strand 2, chain 1, mutagenesis site 1, turn 1, short sequence motif 1, modified residue 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
8J0L	X-RAY DIFFRACTION	1.98
8J0K	X-RAY DIFFRACTION	2.1
8J0R	X-RAY DIFFRACTION	2.1

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P05549-F1	67.76	0.38

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (5): 10, 10, 177, 184, 239

Mutagenesis-validated functional residues (1):

Position	Phenotype
239	no phosphorylation.

Function

Pathways and Gene Ontology

Reactome pathways

19 pathways

ID	Pathway
R-HSA-8864260	Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors
R-HSA-8866904	Negative regulation of activity of TFAP2 (AP-2) family transcription factors
R-HSA-8866906	TFAP2 (AP-2) family regulates transcription of other transcription factors
R-HSA-8866907	Activation of the TFAP2 (AP-2) family of transcription factors
R-HSA-8866910	TFAP2 (AP-2) family regulates transcription of growth factors and their receptors
R-HSA-8866911	TFAP2 (AP-2) family regulates transcription of cell cycle factors
R-HSA-8869496	TFAP2A acts as a transcriptional repressor during retinoic acid induced cell differentiation
R-HSA-9764790	Positive Regulation of CDH1 Gene Transcription
R-HSA-9824585	Regulation of MITF-M-dependent genes involved in pigmentation
R-HSA-9834899	Specification of the neural plate border
R-HSA-9938206	Developmental Lineage of Mammary Stem Cells
R-HSA-3232118	SUMOylation of transcription factors
R-HSA-1266738	Developmental Biology
R-HSA-212436	Generic Transcription Pathway
R-HSA-73857	RNA Polymerase II Transcription
R-HSA-74160	Gene expression (Transcription)
R-HSA-9730414	MITF-M-regulated melanocyte development
R-HSA-9758941	Gastrulation
R-HSA-9856651	MITF-M-dependent gene expression

MSigDB gene sets: 618 (showing top): GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, RRAGTTGT_UNKNOWN, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GOBP_SENSORY_PERCEPTION_OF_MECHANICAL_STIMULUS, chr6p24, HOFMANN_CELL_LYMPHOMA_UP, GOBP_EMBRYONIC_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_NEGATIVE_REGULATION_OF_REACTIVE_OXYGEN_SPECIES_METABOLIC_PROCESS, GOBP_EMBRYONIC_SKELETAL_SYSTEM_MORPHOGENESIS, AREB6_01, GOBP_CRANIAL_NERVE_MORPHOGENESIS

GO Biological Process (31): negative regulation of transcription by RNA polymerase II (GO:0000122), skeletal system development (GO:0001501), kidney development (GO:0001822), optic vesicle morphogenesis (GO:0003404), optic cup structural organization (GO:0003409), nervous system development (GO:0007399), sensory perception of sound (GO:0007605), negative regulation of cell population proliferation (GO:0008285), positive regulation of gene expression (GO:0010628), retina layer formation (GO:0010842), obsolete negative regulation of transcription by competitive promoter binding (GO:0010944), trigeminal nerve development (GO:0021559), oculomotor nerve formation (GO:0021623), positive regulation of bone mineralization (GO:0030501), embryonic forelimb morphogenesis (GO:0035115), regulation of cell population proliferation (GO:0042127), inner ear morphogenesis (GO:0042472), negative regulation of apoptotic process (GO:0043066), positive regulation of neuron apoptotic process (GO:0043525), regulation of cell differentiation (GO:0045595), negative regulation of DNA-templated transcription (GO:0045892), positive regulation of DNA-templated transcription (GO:0045893), positive regulation of transcription by RNA polymerase II (GO:0045944), embryonic cranial skeleton morphogenesis (GO:0048701), roof of mouth development (GO:0060021), bone morphogenesis (GO:0060349), eyelid development in camera-type eye (GO:0061029), positive regulation of tooth mineralization (GO:0070172), cellular response to iron ion (GO:0071281), negative regulation of reactive oxygen species metabolic process (GO:2000378), regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (13): transcription cis-regulatory region binding (GO:0000976), RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), DNA binding (GO:0003677), chromatin binding (GO:0003682), identical protein binding (GO:0042802), sequence-specific DNA binding (GO:0043565), sequence-specific double-stranded DNA binding (GO:1990837), DNA-binding transcription factor activity (GO:0003700), protein binding (GO:0005515)

GO Cellular Component (3): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654)

Reactome top-level categories

Rollup of top-11 pathways:

Category	Pathways
Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors	6
Developmental Biology	2
Generic Transcription Pathway	1
Regulation of CDH1 Gene Transcription	1
MITF-M-dependent gene expression	1
Gastrulation	1
Developmental Lineages of the Mammary Gland	1
SUMO E3 ligases SUMOylate target proteins	1
RNA Polymerase II Transcription	1
Gene expression (Transcription)	1
MITF-M-regulated melanocyte development	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA polymerase II transcription regulatory region sequence-specific DNA binding	4
regulation of transcription by RNA polymerase II	2
system development	2
embryonic morphogenesis	2
cell population proliferation	2
regulation of cellular process	2
transcription cis-regulatory region binding	2
DNA-binding transcription factor activity, RNA polymerase II-specific	2
binding	2
cellular anatomical structure	2
transcription by RNA polymerase II	1
negative regulation of DNA-templated transcription	1
animal organ development	1
renal system development	1
embryonic camera-type eye morphogenesis	1
tissue morphogenesis	1
optic cup morphogenesis involved in camera-type eye development	1
anatomical structure arrangement	1
sensory perception of mechanical stimulus	1
regulation of cell population proliferation	1
negative regulation of cellular process	1
gene expression	1
regulation of gene expression	1
positive regulation of macromolecule biosynthetic process	1
neural retina development	1
anatomical structure formation involved in morphogenesis	1
retina morphogenesis in camera-type eye	1
cranial nerve development	1
cranial nerve formation	1
oculomotor nerve morphogenesis	1
bone mineralization	1
regulation of bone mineralization	1
positive regulation of ossification	1
positive regulation of biomineral tissue development	1
embryonic limb morphogenesis	1
forelimb morphogenesis	1
ear morphogenesis	1
inner ear development	1
apoptotic process	1
regulation of apoptotic process	1

Protein interactions and networks

STRING

2444 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TFAP2A	CITED2	Q99967	935
TFAP2A	KCTD1	Q719H9	876
TFAP2A	MYC	P01106	832
TFAP2A	TP53	P04637	830
TFAP2A	KLF12	Q9Y4X4	780
TFAP2A	CITED4	Q96RK1	752
TFAP2A	WWOX	Q9NZC7	744
TFAP2A	JUN	P05412	723
TFAP2A	SP1	P08047	681
TFAP2A	GATA3	P23771	656
TFAP2A	IRF6	O14896	654
TFAP2A	SOX10	P56693	644
TFAP2A	FOXC1	Q12948	622
TFAP2A	FOXD3	Q9UJU5	621
TFAP2A	MSX1	P28360	619
TFAP2A	LRRFIP1	Q32MZ4	619

IntAct

110 interactions, top by confidence:

A	B	Type	Score
GRB2	EGFR	psi-mi:“MI:0914”(association)	0.980
GSTO2	TFAP2A	psi-mi:“MI:0915”(physical association)	0.670
TFAP2A	GSTO2	psi-mi:“MI:0915”(physical association)	0.670
UBE2I	TFAP2A	psi-mi:“MI:0915”(physical association)	0.650
TFAP2A	UBE2I	psi-mi:“MI:0915”(physical association)	0.650
JUN	NFATC1	psi-mi:“MI:0914”(association)	0.610
TFAP2A	NPM1	psi-mi:“MI:0915”(physical association)	0.590
NPM1	TFAP2A	psi-mi:“MI:0915”(physical association)	0.590
MKRN3	TFAP2A	psi-mi:“MI:0915”(physical association)	0.560
TFAP2A	MKRN3	psi-mi:“MI:0915”(physical association)	0.560
TFAP2A	ACOT1	psi-mi:“MI:0915”(physical association)	0.560
TFAP2A	E7	psi-mi:“MI:0915”(physical association)	0.550
EED	EPOP	psi-mi:“MI:0914”(association)	0.530
EP300	TFAP2A	psi-mi:“MI:0915”(physical association)	0.510
TFAP2A	EP300	psi-mi:“MI:0915”(physical association)	0.510

BioGRID (180): MKRN3 (Two-hybrid), GSTO2 (Two-hybrid), EPN1 (Reconstituted Complex), TFAP2A (Two-hybrid), TFAP2A (Two-hybrid), TFAP2D (Affinity Capture-MS), ACOT1 (Affinity Capture-MS), TFAP2A (Co-fractionation), TFAP2A (Proximity Label-MS), TFAP2A (Affinity Capture-MS), TFAP2A (Affinity Capture-MS), TFAP2A (Affinity Capture-MS), TFAP2A (Affinity Capture-MS), TFAP2A (Affinity Capture-MS), PRKAA2 (Affinity Capture-Western)

ESM2 similar proteins: A0A5N6H279, A6NDR6, A7J1T0, A7J1T2, B3P851, B4IC49, B4PRU6, C5DH39, C5DZR8, F4J6F6, M0R5D6, O43283, O54835, O70436, O88738, P05549, P06434, P06435, P16794, P42003, P46934, P97368, Q05323, Q0P4S0, Q11107, Q15796, Q1HKZ5, Q1W668, Q21733, Q27571, Q387Y5, Q567C6, Q56I99, Q56XX3, Q5R7C0, Q5R8X7, Q5YDB6, Q62432, Q6DIB4, Q77DJ5

Diamond homologs: A1A4R9, P05549, P34056, P58197, Q09585, Q2T9K2, Q5RJ20, Q61312, Q61313, Q6P0E7, Q6VUC0, Q6VUP9, Q76HI7, Q7Z6R9, Q91ZK0, Q92481, Q92754, Q9N0N3, G2HK15

SIGNOR signaling

10 interactions.

A	Effect	B	Mechanism
CSNK2A1	up-regulates	TFAP2A	phosphorylation
TFAP2A	“up-regulates quantity by expression”	CRYAB	“transcriptional regulation”
TFAP2A	“up-regulates quantity by expression”	DCC	“transcriptional regulation”
TFAP2A	“up-regulates quantity by expression”	SULT1E1	“transcriptional regulation”
TFAP2A	“up-regulates quantity by expression”	CRABP2	“transcriptional regulation”
TFAP2A	“up-regulates quantity by expression”	ECM1	“transcriptional regulation”
TFAP2A	“up-regulates quantity by expression”	LNPEP	“transcriptional regulation”
PRKAA2	“up-regulates activity”	TFAP2A	phosphorylation
PRKACA	up-regulates	TFAP2A	phosphorylation
TFAP2A	“up-regulates quantity by expression”	ADM	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 71 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

GO biological processes:

GO term	Partners	Fold	FDR
antimicrobial humoral immune response mediated by antimicrobial peptide	6	15.2×	5e-04
anatomical structure morphogenesis	5	10.9×	5e-03
positive regulation of cell migration	8	7.7×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

250 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	13
Likely pathogenic	19
Uncertain significance	110
Likely benign	65
Benign	21

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1074927	NC_000006.11:g.(?10393732)(10439975_?)del	Pathogenic
17938	NM_001372066.1(TFAP2A):c.791G>A (p.Gly264Glu)	Pathogenic
17939	NM_001372066.1(TFAP2A):c.703_714del (p.Glu235_Arg238del)	Pathogenic
17941	NM_001372066.1(TFAP2A):c.832_848delinsAGGAT (p.Leu278_Arg283delinsArgIle)	Pathogenic
1805436	NM_001372066.1(TFAP2A):c.481del (p.Val161fs)	Pathogenic
18465	NM_001372066.1(TFAP2A):c.892G>A (p.Glu298Lys)	Pathogenic
2582683	NM_001372066.1(TFAP2A):c.835_836del (p.Pro279fs)	Pathogenic
2844077	NM_001372066.1(TFAP2A):c.973C>T (p.Arg325Ter)	Pathogenic
3246167	NC_000006.11:g.(?10212581)(10400010_?)del	Pathogenic
4685488	Single allele	Pathogenic
523459	NM_001372066.1(TFAP2A):c.1043_1044del (p.Lys348fs)	Pathogenic
547798	NM_001372066.1(TFAP2A):c.716G>C (p.Arg239Pro)	Pathogenic
807514	NM_001372066.1(TFAP2A):c.752T>C (p.Leu251Pro)	Pathogenic
1028093	NM_001372066.1(TFAP2A):c.94C>T (p.Gln32Ter)	Likely pathogenic
1033984	NM_001372066.1(TFAP2A):c.889+2dup	Likely pathogenic
1065052	NM_001372066.1(TFAP2A):c.15G>A (p.Trp5Ter)	Likely pathogenic
2299162	NM_001372066.1(TFAP2A):c.1156C>T (p.His386Tyr)	Likely pathogenic
2572430	NM_001372066.1(TFAP2A):c.486+1G>T	Likely pathogenic
2614435	NM_001372066.1(TFAP2A):c.771-2_771-1del	Likely pathogenic
2838489	NM_001372066.1(TFAP2A):c.800T>C (p.Leu267Ser)	Likely pathogenic
3592846	NM_001372066.1(TFAP2A):c.1039del (p.Cys347fs)	Likely pathogenic
3592854	NM_001372066.1(TFAP2A):c.204C>A (p.Tyr68Ter)	Likely pathogenic
3592856	NM_001372066.1(TFAP2A):c.69_85dup (p.Arg29fs)	Likely pathogenic
3764633	NM_001372066.1(TFAP2A):c.781A>G (p.Lys261Glu)	Likely pathogenic
3899979	NM_001372066.1(TFAP2A):c.486+1G>A	Likely pathogenic
547796	NM_001372066.1(TFAP2A):c.407_413dup (p.Pro139fs)	Likely pathogenic
547797	NM_001372066.1(TFAP2A):c.703G>A (p.Glu235Lys)	Likely pathogenic
547804	NM_001372066.1(TFAP2A):c.895G>C (p.Ala299Pro)	Likely pathogenic
547805	NM_001372066.1(TFAP2A):c.1320A>G (p.Ter440Trp)	Likely pathogenic
817504	NM_001372066.1(TFAP2A):c.1013dup (p.Asn338fs)	Likely pathogenic

SpliceAI

1312 predictions. Top by Δscore:

Variant	Effect	Δscore
6:10398702:CTGT:C	acceptor_gain	1.0000
6:10398703:TGT:T	acceptor_gain	1.0000
6:10398706:C:CC	acceptor_gain	1.0000
6:10398712:C:CT	acceptor_gain	1.0000
6:10398714:CAAG:C	acceptor_gain	1.0000
6:10398715:A:T	acceptor_gain	1.0000
6:10398717:G:C	acceptor_gain	1.0000
6:10398717:G:GC	acceptor_gain	1.0000
6:10400446:A:AC	donor_gain	1.0000
6:10400447:C:CT	donor_gain	1.0000
6:10404737:GGC:G	acceptor_gain	1.0000
6:10404738:GC:G	acceptor_gain	1.0000
6:10404738:GCCTG:G	acceptor_loss	1.0000
6:10404739:CC:C	acceptor_gain	1.0000
6:10404739:CCTG:C	acceptor_loss	1.0000
6:10404740:C:CC	acceptor_gain	1.0000
6:10404741:T:A	acceptor_loss	1.0000
6:10406787:GCTTA:G	donor_loss	1.0000
6:10406788:CTTAC:C	donor_loss	1.0000
6:10406789:TTA:T	donor_loss	1.0000
6:10406790:TA:T	donor_loss	1.0000
6:10406791:ACCTT:A	donor_loss	1.0000
6:10406792:CCTTT:C	donor_gain	1.0000
6:10406841:CATG:C	acceptor_gain	1.0000
6:10406843:TG:T	acceptor_gain	1.0000
6:10406845:C:CC	acceptor_gain	1.0000
6:10398704:GT:G	acceptor_gain	0.9900
6:10398710:A:T	acceptor_gain	0.9900
6:10398723:C:CT	acceptor_gain	0.9900
6:10400441:GCCTT:G	donor_loss	0.9900

AlphaMissense

2861 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:10398518:C:G	A405P	1.000
6:10398526:A:G	L402P	1.000
6:10398538:A:G	L398P	1.000
6:10398541:G:T	A397D	1.000
6:10398542:C:G	A397P	1.000
6:10398550:G:T	A394E	1.000
6:10398551:C:G	A394P	1.000
6:10398553:G:T	A393D	1.000
6:10398554:C:G	A393P	1.000
6:10398562:G:T	A390E	1.000
6:10398563:C:G	A390P	1.000
6:10398571:C:A	G387V	1.000
6:10398571:C:T	G387D	1.000
6:10398572:C:G	G387R	1.000
6:10398573:G:C	F386L	1.000
6:10398573:G:T	F386L	1.000
6:10398574:A:C	F386C	1.000
6:10398574:A:G	F386S	1.000
6:10398575:A:G	F386L	1.000
6:10398575:A:T	F386I	1.000
6:10398577:C:A	G385V	1.000
6:10398577:C:T	G385D	1.000
6:10398578:C:A	G385C	1.000
6:10398578:C:G	G385R	1.000
6:10398579:G:C	H384Q	1.000
6:10398579:G:T	H384Q	1.000
6:10398580:T:A	H384L	1.000
6:10398580:T:C	H384R	1.000
6:10398580:T:G	H384P	1.000
6:10398581:G:A	H384Y	1.000

dbSNP variants (sampled 300 via entrez): RS1000215119 (6:10397768 G>A,T), RS1000280976 (6:10415087 A>G,T), RS1000450016 (6:10404088 C>G), RS1000493491 (6:10415249 G>C), RS1000507129 (6:10398240 G>A,C,T), RS1000538246 (6:10405154 A>G), RS1000563679 (6:10403930 A>G), RS1000608126 (6:10404149 G>A,C), RS1000817718 (6:10410716 T>C), RS1000857661 (6:10415205 C>A,G,T), RS1001230607 (6:10416680 G>A,T), RS1001269086 (6:10397640 G>C), RS1001278287 (6:10415533 G>A,T), RS1001332120 (6:10415334 C>A,T), RS1001487394 (6:10411338 G>T)

Disease associations

OMIM: gene MIM:107580 | disease phenotypes: MIM:113620, MIM:113650

GenCC curated gene-disease

Disease	Classification	Inheritance
branchiooculofacial syndrome	Definitive	Autosomal dominant

Mondo (8): branchiooculofacial syndrome (MONDO:0007235), branchio-oto-renal syndrome (MONDO:0007029), amblyopia (MONDO:0001020), lens subluxation (MONDO:0001271), pathologic nystagmus (MONDO:0004843), esotropia (MONDO:0004896), coloboma of iris (MONDO:0020356), microphthalmia (MONDO:0021129)

Orphanet (3): Branchio-oculo-facial syndrome (Orphanet:1297), BOR syndrome (Orphanet:107), Coloboma of iris (Orphanet:98944)

HPO phenotypes

95 total (30 of 95 shown, HPO-id order):

HPO	Term
HP:0000003	Multicystic kidney dysplasia
HP:0000006	Autosomal dominant inheritance
HP:0000028	Cryptorchidism
HP:0000047	Hypospadias
HP:0000104	Renal agenesis
HP:0000107	Renal cyst
HP:0000126	Hydronephrosis
HP:0000164	Abnormality of the dentition
HP:0000175	Cleft palate
HP:0000196	Lower lip pit
HP:0000202	Orofacial cleft
HP:0000204	Cleft upper lip
HP:0000218	High palate
HP:0000232	Everted lower lip vermilion
HP:0000252	Microcephaly
HP:0000268	Dolichocephaly
HP:0000272	Malar flattening
HP:0000316	Hypertelorism
HP:0000347	Micrognathia
HP:0000350	Small forehead
HP:0000358	Posteriorly rotated ears
HP:0000365	Hearing impairment
HP:0000369	Low-set ears
HP:0000377	Abnormal pinna morphology
HP:0000396	Overfolded helix
HP:0000405	Conductive hearing impairment
HP:0000407	Sensorineural hearing impairment
HP:0000420	Short nasal septum
HP:0000431	Wide nasal bridge
HP:0000455	Broad nasal tip

GWAS associations

10 associations (top):

Study	Trait	p-value
GCST002337_66	Amyotrophic lateral sclerosis (sporadic)	3.000000e-06
GCST002726_55	Glucose homeostasis traits	7.000000e-06
GCST002934_14	Zinc levels	6.000000e-06
GCST004573_6	Iron status biomarkers (ferritin levels)	3.000000e-07
GCST007239_10	Ovarian cancer	6.000000e-06
GCST007302_3	Breast cancer in BRCA2 mutation carriers	4.000000e-08
GCST009172_2	Response to (pegylated) interferon in HBeAg-negative hepatitis B	3.000000e-06
GCST009391_1126	Metabolite levels	4.000000e-07
GCST009391_92	Metabolite levels	2.000000e-07
GCST010002_47	Refractive error	1.000000e-21

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0006833	glucose effectiveness measurement
EFO:0004459	ferritin measurement
EFO:0007859	response to interferon
EFO:0010456	allantoin measurement
EFO:0010473	cyclic adenosine monophosphate measurement

MeSH disease descriptors (6)

Descriptor	Name	Tree numbers
D000550	Amblyopia	C10.228.140.055; C10.597.751.941.073; C11.966.073; C23.888.592.763.941.073
D019280	Branchio-Oto-Renal Syndrome	C16.131.077.208; C16.131.260.090; C16.320.180.090
D004948	Esotropia	C10.292.562.887.300; C11.590.810.400
D007906	Lens Subluxation	C11.510.598
D008850	Microphthalmos	C11.250.566; C16.131.384.666
D009759	Nystagmus, Pathologic	C10.292.562.675; C11.590.400

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

111 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects reaction, increases expression, affects cotreatment, affects expression, decreases expression (+1 more)	9
Particulate Matter	affects cotreatment, decreases expression, increases abundance, increases expression	5
Cisplatin	increases expression, increases response to substance, affects response to substance, affects cotreatment, decreases response to substance (+1 more)	4
Tretinoin	increases reaction, increases expression, affects localization, affects binding, decreases reaction	4
methylmercuric chloride	decreases expression, increases expression	3
trichostatin A	affects cotreatment, increases expression	3
Tetrachlorodibenzodioxin	increases expression	3
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression, increases expression	3
mercuric bromide	increases expression, affects cotreatment	2
entinostat	increases expression, affects cotreatment	2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	2
belinostat	increases expression, affects cotreatment	2
Erlotinib Hydrochloride	affects binding, decreases reaction	2
Gefitinib	affects binding, decreases reaction	2
Fulvestrant	increases expression, affects cotreatment, decreases methylation	2
Vorinostat	affects cotreatment, increases expression	2
Panobinostat	affects cotreatment, increases expression	2
Acetaminophen	decreases expression, increases expression	2
Air Pollutants	decreases expression, increases abundance, increases expression	2
Benzo(a)pyrene	increases expression, decreases methylation	2
Estradiol	decreases expression	2
Etoposide	affects response to substance, increases response to substance	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Rotenone	decreases expression	2
Tetradecanoylphorbol Acetate	affects binding, decreases reaction	2
p-Chloromercuribenzoic Acid	affects cotreatment, increases expression	2
bisphenol A	affects cotreatment, decreases methylation	1
geraniol	increases expression	1
glycidyl methacrylate	increases expression	1
decabromobiphenyl ether	increases expression	1

Cellosaurus cell lines

7 cell lines: 4 cancer cell line, 3 embryonic stem cell

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_A7G4	SEES3-1V human TFAP2A, clone1	Embryonic stem cell	Male
CVCL_A7G5	SEES3-1V human TFAP2A, clone2	Embryonic stem cell	Male
CVCL_A7G6	SEES3-1V human TFAP2A, clone3	Embryonic stem cell	Male
CVCL_B2IC	Abcam HeLa TFAP2A KO	Cancer cell line	Female
CVCL_B8QQ	Abcam HCT 116 TFAP2A KO	Cancer cell line	Male
CVCL_B9T6	Abcam A-549 TFAP2A KO	Cancer cell line	Male
CVCL_TS15	HAP1 TFAP2A (-)	Cancer cell line	Male

Clinical trials (associated diseases)

192 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00094614	PHASE4	COMPLETED	Trial Comparing Daily Atropine Versus Weekend Atropine
NCT03109314	PHASE4	COMPLETED	Combining Donepezil With Perceptual Learning in Normal and Amblyopic Human The Effect of Donepezil on Perceptual Learning in Adult Amblyopia
NCT01460355	PHASE4	COMPLETED	Comparison of Two Treatments for Strabismus Correction: Botulinum Toxin A Associated to Surgery and Surgery Alone
NCT06077682	PHASE4	UNKNOWN	Cycloplegic Refraction in Pediatric Patients With Esotropia
NCT00000170	PHASE3	COMPLETED	Occlusion Versus Pharmacologic Therapy for Moderate Amblyopia
NCT00001864	PHASE3	COMPLETED	Amblyopia (Lazy Eye) Treatment Study
NCT00038753	PHASE3	UNKNOWN	Vision In Preschoolers Study (VIP Study)
NCT00091923	PHASE3	COMPLETED	Trial to Evaluate 2 Hours of Daily Patching for Amblyopia in Children
NCT00094679	PHASE3	COMPLETED	Trial Comparing Part-time Versus Minimal-time Patching for Moderate Amblyopia
NCT00094692	PHASE3	COMPLETED	An Evaluation of Treatment of Amblyopia in Children 7 To <18 Years Old
NCT00094744	PHASE3	COMPLETED	Trial Comparing Part-time Versus Full-time Patching for Severe Amblyopia
NCT00131729	PHASE3	COMPLETED	Electronic Recording of Compliance With Occlusion Therapy for Amblyopia
NCT00315198	PHASE3	COMPLETED	Trial Comparing Near Versus Distance Activities While Patching for Amblyopia in Children 3 to <7 Years Old
NCT00315302	PHASE3	COMPLETED	Trial Comparing Atropine to Atropine Plus a Plano Lens for the Sound Eye for Amblyopia in Children 3 to <7 Years Old
NCT00315328	PHASE3	COMPLETED	Trial Comparing Patching Versus Atropine for Amblyopia in 7 to < 13 Year Olds
NCT00506675	PHASE3	TERMINATED	Combined Patching-Atropine for Residual Amblyopia
NCT00525174	PHASE3	COMPLETED	Full-time Bangerter Filters Versus Part-time Daily Patching for Moderate Amblyopia in Children
NCT00587171	PHASE3	TERMINATED	Trial Comparing Patching With Active Vision Therapy to Patching With Control Vision Therapy as Treatment for Amblyopia
NCT00944710	PHASE3	COMPLETED	Augmenting Atropine Treatment for Amblyopia in Children 3 to < 8 Years Old
NCT00945100	PHASE3	COMPLETED	Increasing Patching for Amblyopia in Children 3 to < 8 Years Old
NCT01190813	PHASE3	COMPLETED	Levodopa for the Treatment of Residual Amblyopia
NCT04378790	PHASE3	RECRUITING	A Randomized Trial to Evaluate Sequential vs Simultaneous Patching
NCT06380517	PHASE3	RECRUITING	Dichoptic Treatment for Amblyopia in Children 4 to 7 Years of Age
NCT06524882	PHASE3	RECRUITING	Dichoptic Treatment for Amblyopia in Children 8 to 12 Years of Age
NCT01346566	PHASE3	COMPLETED	Prospective Study of Cionni Ring and In-the-bag IOL Implantation for Subluxated Lenses
NCT00000121	PHASE3	COMPLETED	The Prism Adaptation Study (PAS)
NCT03459092	PHASE3	COMPLETED	Botox Instead of Strabismus Surgery (BISS)
NCT05527015	PHASE3	WITHDRAWN	Bifocal Spectacles vs. Single Vision Spectacles for Esotropia Greater at Near
NCT07470164	PHASE3	NOT_YET_RECRUITING	A Randomized Trial of Botulinum Toxin A vs Strabismus Surgery for Esotropia >10 to ≤30PD
NCT00789672	PHASE2	COMPLETED	Pilot Study to Evaluate Levodopa as Treatment for Residual Amblyopia
NCT01308307	PHASE2	COMPLETED	Is Non-cycloplegic Photorefraction Applicable for Screening Refractive Risk Factors of Amblyopia?
NCT01702727	PHASE2	COMPLETED	I-BiT - Evaluation of a Novel Binocular Treatment System (I-BiTTM) in Children With Amblyopia
NCT07554131	PHASE2	NOT_YET_RECRUITING	Evaluation of Echothiophate in Pediatric Patients With Refractory Amblyopia
NCT00097162	PHASE1	COMPLETED	Visual Cortex Stimulation in Patients With Amblyopia
NCT00274664	PHASE1	COMPLETED	Patching for Lazy Eye: Trial to Evaluate Daily Patching Amounts
NCT01584076	PHASE1	COMPLETED	Treatment of Residual Amblyopia With Donepezil
NCT02246556	PHASE1	TERMINATED	Dichoptic Virtual Reality Therapy for Amblyopia in Adults
NCT04784390	PHASE1	TERMINATED	Proof of Concept Study of Binocular Videogames Versus Patching for Amblyopia
NCT00815581	PHASE1/PHASE2	COMPLETED	Comparison of Photorefraction With Cycloautorefraction and Cycloretinoscopy at Emam Hosein Medical Centre in 2008-2009
NCT00970554	PHASE1/PHASE2	COMPLETED	Effectiveness of Telescopic Magnification in the Treatment of Amblyopia