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
RS1560274283	Health Risk	Pathogenic	TP63-Related Spectrum Disorders, TP63-Related Spectrum Disorders
RS1560277554	Health Risk	Pathogenic	Orofacial cleft 8, Orofacial cleft 8
RS1560301690	Health Risk	Pathogenic	TP63-Related Spectrum Disorders, TP63-Related Spectrum Disorders
RS1560311010	Health Risk	Pathogenic	Premature ovarian insufficiency, Premature ovarian failure 21, Premature ovarian insufficiency
RS1577195893	Health Risk	Pathogenic	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
RS1577206350	Health Risk	Pathogenic	TP63-Related Spectrum Disorders, TP63-Related Spectrum Disorders
RS1577213466	Health Risk	Pathogenic	Rapp-Hodgkin syndrome, Rapp-Hodgkin syndrome
RS1721306735	Health Risk	Pathogenic	TP63-Related Spectrum Disorders, Limb-mammary syndrome, TP63-Related Spectrum Disorders
RS2108636995	Health Risk	Pathogenic	TP63-Related Spectrum Disorders, TP63-Related Spectrum Disorders
RS2108806489	Health Risk	Pathogenic	TP63-Related Spectrum Disorders, TP63-Related Spectrum Disorders
RS2108861558	Health Risk	Pathogenic	TP63-Related Spectrum Disorders, TP63-Related Spectrum Disorders
RS2108864810	Health Risk	Pathogenic	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
RS2108864814	Health Risk	Pathogenic	Limb-mammary syndrome, Limb-mammary syndrome
RS2108864831	Health Risk	Pathogenic	TP63-Related Spectrum Disorders, TP63-Related Spectrum Disorders, TP63-Related Spectrum Disorders
RS2108873431	Health Risk	Pathogenic	Rapp-Hodgkin syndrome, Rapp-Hodgkin syndrome
RS2108874029	Health Risk	Pathogenic	Rapp-Hodgkin syndrome, Rapp-Hodgkin syndrome
RS2108874645	Health Risk	Pathogenic	Rapp-Hodgkin syndrome, Rapp-Hodgkin syndrome
RS2474609177	Health Risk	Pathogenic	TP63-Related Spectrum Disorders, TP63-Related Spectrum Disorders
RS2474613656	Health Risk	Pathogenic	—
RS2474713721	Health Risk	Pathogenic	Premature ovarian failure 21, Premature ovarian failure 21
RS2474713823	Health Risk	Pathogenic	TP63-Related Spectrum Disorders, TP63-Related Spectrum Disorders
RS2474724873	Health Risk	Pathogenic	Rapp-Hodgkin syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome, Rapp-Hodgkin syndrome
RS2474726412	Health Risk	Pathogenic	TP63-Related Spectrum Disorders, TP63-Related Spectrum Disorders
RS747009931	Health Risk	Pathogenic	TP63-Related Spectrum Disorders, TP63-Related Spectrum Disorders
RS752080701	Health Risk	Pathogenic	Premature ovarian insufficiency, Premature ovarian failure 21, Premature ovarian insufficiency
RS794727122	Health Risk	Pathogenic	—
RS797044484	Health Risk	Pathogenic	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
RS864621968	Health Risk	Pathogenic	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
RS886041251	Health Risk	Pathogenic	TP63-Related Spectrum Disorders, Ectrodactyly, ectodermal dysplasia
RS900140738	Health Risk	Pathogenic	Premature ovarian insufficiency, Premature ovarian failure 21, Premature ovarian insufficiency
RS1057520683	Health Risk	Pathogenic/Likely pathogenic	TP63-related disorder, TP63-related disorder
RS113993966	Health Risk	Pathogenic/Likely pathogenic	ADULT syndrome, TP63-related disorder, ADULT syndrome
RS113993967	Health Risk	Pathogenic/Likely pathogenic	ADULT syndrome, TP63-Related Spectrum Disorders, ADULT syndrome
RS121908836	Health Risk	Pathogenic/Likely pathogenic	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
RS121908840	Health Risk	Pathogenic/Likely pathogenic	Rapp-Hodgkin syndrome, Ectrodactyly, ectodermal dysplasia
RS121908841	Health Risk	Pathogenic/Likely pathogenic	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
RS2108806204	Health Risk	Pathogenic/Likely pathogenic	TP63-Related Spectrum Disorders, TP63-Related Spectrum Disorders
RS2108864735	Health Risk	Pathogenic/Likely pathogenic	TP63-Related Spectrum Disorders, ADULT syndrome, TP63-Related Spectrum Disorders
RS774221257	Health Risk	Pathogenic/Likely pathogenic	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
RS941268998	Health Risk	Pathogenic/Likely pathogenic	—

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