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FLASH GENE
Symbol TP63 contributors: mct/pgu - updated : 06-03-2017
HGNC name tumor protein p63
HGNC id 15979
ASSOCIATED DISORDERS
corresponding disease(s) AEC , LMS , SHFM4 , ADULT , RHS , EEC3
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional germinal mutation     gain of function
mutation gain of function in ADULT syndrome
tumoral       loss of function
in squamous cell carcinoma
tumoral somatic mutation      
in B cell lymphoma
constitutional germinal mutation      
in Hay-Wells syndrome
constitutional     --other  
dysregulated in psoriasis
tumoral     --low  
in cancer showed an increased invasive ability
tumoral     --over  
in 80 p100 of head and neck squamous cell carcinomas (HNSCC)
tumoral     --over  
in two TP53-deficient human cancer cell lines, leading to cell cycle arrest and attenuating doxorubicin-induced DNA damage
tumoral     --low  
in TP53-expressing cancer cells, possibly due to their similar biological functions
tumoral fusion      
fusion between TBL1XR1 and TP63,in diffuse large B-cell lymphoma (DLBCL)
tumoral   amplification    
in early stage of esophageal squamous cell carcinoma (EC-SCC) carcinogenesis but down-regulated in advanced stage of disease
Susceptibility
  • to urinary bladder cancer
  • to nonsyndromic cleft palate and nonsyndromic cleft lip and palate
  • to bladder exstrophy epispadias complex
  • Variant & Polymorphism insertion/deletion , other
  • increasing the risk of urinary bladder cancer
  • a SAM domain mutation (p.Asp564His) in TP63 that predisposed the patients to have nonsyndromic cleft palate and nonsyndromic cleft lip and palate
  • Insertion/deletion polymorphisms in the deltaNp63 promoter are a risk factor for bladder exstrophy epispadias complex
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancer  
    potential target of anti-cancer therapy for human malignancies with compromised TP53
    ANIMAL & CELL MODELS
  • p63-null mice revealed a complex relationship between the gene and development, with severe deleterious effects
  • mice lacking p63 exhibit skin and craniofacial defects including cleft palate