AlphaFold predicted structure
TP63 · Q9H3D4
Mean pLDDT
63.2/ 100
Low
680 residues
Confidence breakdown
- Very high(≥ 90)35%
- Confident(70–90)14%
- Low(50–70)8%
- Very low(< 50)43%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
TP63
Chr 3q28tumor protein p63
- Aliases:
- p51, SHFM4, EEC3, p63, p73L
- MANE:
- ENST00000264731.8
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEctodermal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEctodermal dysplasia without a known gene mutation
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLimb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownSkeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedAmelogenesis imperfecta
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Disease associations (Open Targets)
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
0.83Ankyloblepharon - ectodermal defects - cleft lip/palate
0.80ADULT syndrome
0.79limb-mammary syndrome
0.78Rapp-Hodgkin syndrome
0.76Split hand-split foot malformation
0.76ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
0.72EEC syndrome
0.72split hand-foot malformation 4
0.70orofacial cleft 8
0.70
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Tumor protein 63
Acts as a sequence specific DNA binding transcriptional activator or repressor. The isoforms contain a varying set of transactivation and auto-regulating transactivation inhibiting domains thus showing an isoform specific activity. Isoform 2 activates RIPK4 transcription. May be required in conjunction with TP73/p73 for initiation of p53/TP53 dependent apoptosis in response to genotoxic insults and the presence of activated oncogenes. Involved in Notch signaling by probably inducing JAG1 and JAG2. Plays a role in the regulation of epithelial morphogenesis. The ratio of DeltaN-type and TA*-type isoforms may govern the maintenance of epithelial stem cell compartments and regulate the initiation of epithelial stratification from the undifferentiated embryonal ectoderm. Required for limb formation from the apical ectodermal ridge. Activates transcription of the p21 promoter. Binds to an upstream regulatory region of the DSG1 gene and promotes transcription (PubMed:24594668)
Diseases associated with TP63
Curated MONDO disease pages that list TP63 among their top associated genes.