TP63 (Entrez ID: 8626)

Entrez Gene ID	8626
Official Gene Symbol	TP63 (GeneCards)
Full name	tumor protein p63
Location	3q28
Other ids	Vega : OTTHUMG00000156313 MIM : 603273 HGNC : HGNC:15979 Ensembl : ENSG00000073282
Other names	AIS, KET, LMS, NBP, RHS, p40, p51, p63, EEC3, OFC8, p73H, p73L, SHFM4, TP53L, TP73L, p53CP, TP53CP, B(p51A), B(p51B)
Summary	This gene encodes a member of the p53 family of transcription factors. The functional domains of p53 family proteins include an N-terminal transactivation domain, a central DNA-binding domain and an oligomerization domain. Alternative splicing of this gene and the use of alternative promoters results in multiple transcript variants encoding different isoforms that vary in their functional properties. These isoforms function during skin development and maintenance, adult stem/progenitor cell regulation, heart development and premature aging. Some isoforms have been found to protect the germline by eliminating oocytes or testicular germ cells that have suffered DNA damage. Mutations in this gene are associated with ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3); split-hand/foot malformation 4 (SHFM4); ankyloblepharon-ectodermal defects-cleft lip/palate; ADULT syndrome (acro-dermato-ungual-lacrimal-tooth); limb-mammary syndrome; Rap-Hodgkin syndrome (RHS); and orofacial cleft 8. [provided by RefSeq, Aug 2016]

Variants

Found 20 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
109	8626	TP63	3	189612098	189612098	Ankyloblepharon ectodermal defect cleft lip/palate syndrome	Sanger
352	8626	P63	3	189582168	189582168	Ankyloblepharon ectodermal defect cleft lip/palate syndrome	Sanger subcloning
353	8626	P63	3	189582168	189582168	Ankyloblepharon ectodermal defect cleft lip/palate syndrome	Sanger subcloning
354	8626	P63	3	189582168	189582168	Ankyloblepharon ectodermal defect cleft lip/palate syndrome	Sanger subcloning
700	8626	p63	3	189586425	189586425	Ectrodactyly ectodermal dysplasia clefting syndrome	Sanger subcloning
5290	8626	TP63	3	189488197	189488197	Asymptomatic	Sanger subcloning HiSeq X Ten
5364	8626	TP63	3	189384471	189384471	Asymptomatic	Sanger subcloning HiSeq X Ten
5770	8626	TP63	3	189482992	189482992	Cockayne syndrome	Sanger subcloning HiSeq X Ten
25157	8626	TP63	3	189593889	189593889	Asymptomatic	Sanger subcloning HiSeq X Ten Single cell Sequencing Cell cloning
30621	8626	TP63	3	189604301	189604301	Asymptomatic	Sanger subcloning HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30622	8626	TP63	3	189590699	189590699	Asymptomatic	Sanger subcloning HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30623	8626	TP63	3	189585636	189585636	Asymptomatic	Sanger subcloning HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31628	8626	TP63	3	189349354	189349354	Asymptomatic	Sanger subcloning HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31629	8626	TP63	3	189526295	189526295	Asymptomatic	Sanger subcloning HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31630	8626	TP63	3	189590737	189590737	Asymptomatic	Sanger subcloning HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31631	8626	TP63	3	189582202	189582202	Asymptomatic	Sanger subcloning HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31632	8626	TP63	3	189586498	189586498	Asymptomatic	Sanger subcloning HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31633	8626	TP63	3	189582108	189582108	Asymptomatic	Sanger subcloning HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31634	8626	TP63	3	189456557	189456557	Asymptomatic	Sanger subcloning HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
34050	8626	TP63	3	189612069	189612069	Asymptomatic	Sanger subcloning HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel