TFAP2A

Chr 6

transcription factor AP-2 alpha

TFAP2A encodes a transcription factor that binds specific DNA sequences to activate and repress genes essential for eye, face, limb, and neural tube development. Mutations cause branchiooculofacial syndrome with autosomal dominant inheritance. The gene is highly constrained against loss-of-function variants, reflecting its critical role in early morphogenesis.

ResearchSummary from RefSeq, OMIM, UniProt

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 can also suppress a number of genes including MCAM/MUC18 and C/EBP alpha. Is involved in the negative regulation of Wnt canonical signaling, and is a transcriptional repressor of MYC (PubMed:33000225). 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

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtBranchiooculofacial syndrome

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.26

LOEUF· LoF intol.

Multiple*

Mechanism· predicted

Some data sources returned errors (2)

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