TP63 Chromosome 3

Tumor protein p63

140 variants 140 Health Risk

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What This Gene Does

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]

Gene Info

Gene Group

MicroRNA protein coding host genes

Locus Type

gene with protein product

Location

3q28

Ensembl

ENSG00000073282

Associated Conditions (19)

TP63-Related Spectrum Disorders

8 conditions

Orofacial cleft 8

Ectrodactyly

ectodermal dysplasia

and cleft lip-palate syndrome 3

7 conditions

TP63-related disorder

ADULT syndrome

Inborn genetic diseases

Furrowed tongue

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

Limb-mammary syndrome

Split hand-foot malformation 4

Rapp-Hodgkin syndrome

Auditory neuropathy

Male infertility with spermatogenesis disorder

Premature ovarian insufficiency

Premature ovarian failure 21

Key Variants

RS1196701463

Conflicting classifications of pathogenicity

Health Risk

RS138832017

Conflicting classifications of pathogenicity

Orofacial cleft 8, Ectrodactyly, ectodermal dysplasia

Health Risk

RS141278696

Conflicting classifications of pathogenicity

Health Risk

RS141794685

Conflicting classifications of pathogenicity

Orofacial cleft 8, Ectrodactyly, ectodermal dysplasia

Health Risk

RS142981128

Conflicting classifications of pathogenicity

Health Risk

RS147340040

Conflicting classifications of pathogenicity

Health Risk

RS147538847

Conflicting classifications of pathogenicity

Health Risk

RS148937466

Conflicting classifications of pathogenicity

Health Risk

RS151335217

Conflicting classifications of pathogenicity

Orofacial cleft 8, TP63-Related Spectrum Disorders, Ectrodactyly

Health Risk

RS1717421668

Conflicting classifications of pathogenicity

Health Risk

RS186864205

Conflicting classifications of pathogenicity

Orofacial cleft 8, Ectrodactyly, ectodermal dysplasia

Health Risk

RS199727371

Conflicting classifications of pathogenicity

Health Risk

All Variants (140)

RSID	Category	Clinical Significance	Conditions
RS121908843	Health Risk	Likely pathogenic	Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome, TP63-Related Spectrum Disorders, Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
RS121908849	Health Risk	Likely pathogenic	ADULT syndrome, Ectrodactyly, ectodermal dysplasia
RS1404019220	Health Risk	Likely pathogenic	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
RS1553845515	Health Risk	Likely pathogenic	Inborn genetic diseases, Inborn genetic diseases
RS1553856553	Health Risk	Likely pathogenic	TP63-Related Spectrum Disorders, Ectrodactyly, ectodermal dysplasia
RS1553857303	Health Risk	Likely pathogenic	—
RS1560204773	Health Risk	Likely pathogenic	TP63-Related Spectrum Disorders, TP63-Related Spectrum Disorders
RS1560310917	Health Risk	Likely pathogenic	TP63-Related Spectrum Disorders, TP63-Related Spectrum Disorders
RS1560311554	Health Risk	Likely pathogenic	Limb-mammary syndrome, Limb-mammary syndrome
RS1577147850	Health Risk	Likely pathogenic	—
RS1718026198	Health Risk	Likely pathogenic	TP63-Related Spectrum Disorders, Split hand-foot malformation 4, TP63-Related Spectrum Disorders
RS2108638585	Health Risk	Likely pathogenic	Split hand-foot malformation 4, Split hand-foot malformation 4
RS2108801923	Health Risk	Likely pathogenic	Rapp-Hodgkin syndrome, Rapp-Hodgkin syndrome
RS2108801985	Health Risk	Likely pathogenic	Split hand-foot malformation 4, Split hand-foot malformation 4
RS2108804396	Health Risk	Likely pathogenic	TP63-Related Spectrum Disorders, TP63-Related Spectrum Disorders
RS2108804508	Health Risk	Likely pathogenic	TP63-related disorder, Ectrodactyly, ectodermal dysplasia
RS2108864901	Health Risk	Likely pathogenic	—
RS2108873027	Health Risk	Likely pathogenic	TP63-Related Spectrum Disorders, TP63-related disorder, TP63-Related Spectrum Disorders
RS2108873176	Health Risk	Likely pathogenic	TP63-Related Spectrum Disorders, TP63-Related Spectrum Disorders
RS2108874622	Health Risk	Likely pathogenic	TP63-Related Spectrum Disorders, TP63-Related Spectrum Disorders
RS2474589841	Health Risk	Likely pathogenic	Auditory neuropathy, Auditory neuropathy
RS2474589927	Health Risk	Likely pathogenic	TP63-Related Spectrum Disorders, TP63-Related Spectrum Disorders
RS2474590664	Health Risk	Likely pathogenic	TP63-Related Spectrum Disorders, TP63-Related Spectrum Disorders
RS2474609100	Health Risk	Likely pathogenic	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
RS2474609185	Health Risk	Likely pathogenic	—
RS2474609250	Health Risk	Likely pathogenic	TP63-related disorder, TP63-related disorder
RS2474635268	Health Risk	Likely pathogenic	Male infertility with spermatogenesis disorder, Male infertility with spermatogenesis disorder
RS760032006	Health Risk	Likely pathogenic	—
RS760967074	Health Risk	Likely pathogenic	Limb-mammary syndrome, Limb-mammary syndrome
RS886039442	Health Risk	Likely pathogenic	TP63-Related Spectrum Disorders, Split hand-foot malformation 4, TP63-Related Spectrum Disorders
RS886058222	Health Risk	Likely pathogenic	Split hand-foot malformation 4, Split hand-foot malformation 4
RS1051829008	Health Risk	Pathogenic	Premature ovarian insufficiency, Premature ovarian failure 21, Premature ovarian insufficiency
RS1057517841	Health Risk	Pathogenic	TP63-Related Spectrum Disorders, TP63-related disorder, TP63-Related Spectrum Disorders
RS1057520750	Health Risk	Pathogenic	—
RS1064793282	Health Risk	Pathogenic	—
RS113993963	Health Risk	Pathogenic	ADULT syndrome, ADULT syndrome
RS113993965	Health Risk	Pathogenic	TP63-Related Spectrum Disorders, TP63-Related Spectrum Disorders
RS1205536026	Health Risk	Pathogenic	TP63-Related Spectrum Disorders, TP63-related disorder, Ectrodactyly
RS121908835	Health Risk	Pathogenic	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
RS121908837	Health Risk	Pathogenic	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
RS121908838	Health Risk	Pathogenic	Split hand-foot malformation 4, Split hand-foot malformation 4
RS121908839	Health Risk	Pathogenic	Split hand-foot malformation 4, TP63-Related Spectrum Disorders, Ectrodactyly
RS121908842	Health Risk	Pathogenic	Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
RS121908844	Health Risk	Pathogenic	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
RS121908845	Health Risk	Pathogenic	Rapp-Hodgkin syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome, Rapp-Hodgkin syndrome
RS121908846	Health Risk	Pathogenic	Rapp-Hodgkin syndrome, Rapp-Hodgkin syndrome
RS1553840705	Health Risk	Pathogenic	—
RS1553857889	Health Risk	Pathogenic	TP63-Related Spectrum Disorders, TP63-Related Spectrum Disorders
RS1553863660	Health Risk	Pathogenic	TP63-Related Spectrum Disorders, TP63-Related Spectrum Disorders
RS1560274243	Health Risk	Pathogenic	TP63-Related Spectrum Disorders, TP63-Related Spectrum Disorders

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