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FLASH GENE

Symbol

TP53

contributors: mct/ - updated : 22-11-2020

HGNC name	tumor protein p53
HGNC id	11998

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

LFS1 , DEL17P131 , DKC8

related resource

p53 Mutation Database Analysis & Search IARC TP53 Mutation Database: Human somatic and germline TP53 mutations compiled from the literature p53 Mutation in Human Cancer Database of Germline p53 Mutations

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral somatic mutation       in pancreas and endometrial carcinomas, in Barrett's adenocarcinoma (and esophageal squamous cell carcinoma), in hepatocellular carcinoma with poor prognosis and in Merckel cell carcinoma tumoral   LOH     in both APC and TP53 in colorectal tumors and TP53 only in hepatocellular carcinoma tumoral       loss of function in breast, adrenal, brain tumors tumoral somatic mutation       in basal cell carcinoma (BCC) of the skin tumoral       loss of function biallelic inactivation of derived from two distinct events, the germinative Arg337His mutation and the acquired loss of the entire chromosome 17, in adrenocortical tumor tumoral fusion       TP53/FXR2 fusion protein lacks the ability of wild-type TP53 to function as a transcription factor; TP53/FXR2 gene is the first reported TP53 fusion gene in acute megakaryoblastic leukemia cell tumoral       loss of function leading to depletion of mtDNA in breast cancer tumoral     --over   of KIT, TP53, and MKI67 reflects tumor grade and predicts survival in neuroendocrine carcinomas, but fail as prognostic markers in the subset of small cell lung cancer patients tumoral germinal mutation     loss of function in patients with primary ovarian, fallopian tube, or peritoneal cancers

Susceptibility

to pancreatic cancer to cancer

Variant & Polymorphism SNP	rs78378222 in the 3 prime untranslated region of TP53, that changes the AATAAA polyadenylation signal to AATACA associated to cutaneous basal cell carcinoma, prostate and colorectal adenoma

Candidate gene	embryo implantation failure in human
Marker
Therapy target
	System Type Disorder Pubmed cancer     PRIMA-1 (TP53-reactivation and induction of massive apoptosis) treatment could represent an interesting tool to reduce the level of mutant TP53 and kill cancer cells cancer     management of a therapeutic approach based on the reversal of epigenetic silencing of the crucial genes involved in regulatory pathways of the tumor suppressor TP53

ANIMAL & CELL MODELS

	essential role in regulating embryo implantation in mice through LIF transcription regulation
	in Wdr74-deficient mouse embryos blocking Trp53 function rescues blastocyst formation and lineage differentiation