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TP63 tumor protein p63

Gene ID: 8626, updated on 5-Jan-2022
Gene type: protein coding
Also known as: 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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
A genome-wide association study identifies two new lung cancer susceptibility loci at 13q12.12 and 22q12.2 in Han Chinese.
GeneReviews: Not available
A genome-wide association study identifies two new susceptibility loci for lung adenocarcinoma in the Japanese population.
GeneReviews: Not available
A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci.
GeneReviews: Not available
A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer.
GeneReviews: Not available
ADULT syndrome
MedGen: C1863204OMIM: 103285GeneReviews: TP63-Related Disorders
See labs
Ankyloblepharon-ectodermal defects, cleft lip/palate
MedGen: C0406709OMIM: 106260GeneReviews: TP63-Related Disorders
See labs
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3
MedGen: C1858562OMIM: 604292GeneReviews: TP63-Related Disorders
See labs
Genome-wide association analysis identifies new lung cancer susceptibility loci in never-smoking women in Asia.
GeneReviews: Not available
Genome-wide association study identifies multiple loci associated with bladder cancer risk.
GeneReviews: Not available
Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.
GeneReviews: Not available
Limb-mammary syndrome
MedGen: C1863753OMIM: 603543GeneReviews: TP63-Related Disorders
See labs
Orofacial cleft 8
MedGen: C1851878OMIM: 618149GeneReviews: TP63-Related Disorders
See labs
Rapp-Hodgkin ectodermal dysplasia syndrome
MedGen: C1785148OMIM: 129400GeneReviews: TP63-Related Disorders
See labs
Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer.
GeneReviews: Not available
Sequence variant on 8q24 confers susceptibility to urinary bladder cancer.
GeneReviews: Not available
Split-hand/foot malformation 4
MedGen: C1854442OMIM: 605289GeneReviews: TP63-Related Disorders
See labs
Variation in TP63 is associated with lung adenocarcinoma susceptibility in Japanese and Korean populations.
GeneReviews: Not available

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2012-09-06)

ClinGen Genome Curation Page
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated 2012-09-06)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
3q28
Sequence:
Chromosome: 3; NC_000003.12 (189596746..189897276)
Total number of exons:
17

Links

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