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FLASH GENE

Symbol

TP63

contributors: mct/pgu - updated : 06-03-2017

HGNC name	tumor protein p63
HGNC id	15979

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

AEC , LMS , SHFM4 , ADULT , RHS , EEC3

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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
	System Type Disorder Pubmed 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