rs28673064
This variant is located in the TP63 gene.
▶ClinVar annotation
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3; TP63-Related Spectrum Disorders; Orofacial cleft 8; not provided
View on ClinVar →▶Research that mentions this SNP (1)
▶A functional variant in TP63 at 3q28 associated with bladder cancer risk by creating an miR‐140‐5p binding siteAssociationN=6,832Meilin Wang et al.(2016)· International Journal of Cancer
A three-stage fine mapping study of the 3q28 bladder cancer susceptibility locus identified rs35592567 in the 3'-UTR of TP63 as a functional causal variant. The T allele was significantly associated with decreased bladder cancer risk (OR=0.82, 95% CI=0.75-0.90, P=9.797×10⁻⁶). Functional studies showed the variant affects miR-140-5p binding, regulating TP63 post-transcriptional levels and affecting bladder cancer cell proliferation, migration, and invasion.
About TP63
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]
View all TP63 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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