Preferred Label : TP63 wt Allele;
NCIt synonyms : B(p51A); SHFM4; TP73L; RHS; P73H; LMS; TP53CP; KET; Tumor Protein p73-Like Gene; AIS; Tumor Protein p53-Competing Protein Gene; B(p51B); p53CP; Tumor Protein p63 wt Allele; NBP; EEC3; Tumor Protein p53-Like Gene; TP53L; P63; p51; OFC8; P73L; p40;
NCIt definition : Human TP63 wild-type allele is located in the vicinity of 3q28 and is approximately
266 kb in length. This allele, which encodes tumor protein 63, is involved in the
modulation of both apical ectoderm development and gene transcription. Mutation of
the gene is associated with cervical, colon, head and neck, lung and ovarian cancers
and numerous congenital disorders caused by aberrant ectodermal development and differentiation.;
NCIt note : Mutation of the TP63 gene is associated with acro-dermato-ungual-lacrimal-tooth syndrome,
ankyloblepharon-ectodermal defects-cleft lip/palate, ectrodactyly-ectodermal dysplasia-cleft
lip/palate syndrome type 3, split-hand/foot malformation type 4, limb-mammary syndrome,
ectodermal dysplasia Rapp-Hodgkin type and non-syndromic orofacial cleft type 8. (UniProt);
GenBank Accession Number : AB010153;
Origin ID : C91792;
UMLS CUI : C2984561;
False automatic mappings
- OMIM relation
- See also inter- (CISMeF)
- Semantic type(s)
- concept_is_in_subset
- gene_associated_with_disease
- gene_found_in_organism
- gene_in_chromosomal_location
- gene_is_element_in_pathway
- gene_plays_role_in_process
