|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:p63
gptkb:LMS
gptkb:KET
gptkb:SHFM4
EEC3
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:cancer
ectodermal dysplasia
limb-mammary syndrome
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
|
|
gptkbp:discoveredBy
|
Yang et al.
|
|
gptkbp:discoveredIn
|
1998
|
|
gptkbp:encodes
|
gptkb:Tumor_protein_p63
|
|
gptkbp:Entrez_Gene_ID
|
8626
ENSG00000073282
|
|
gptkbp:expressedIn
|
epithelial tissues
|
|
gptkbp:function
|
transcription factor
|
|
gptkbp:hasIsoform
|
gptkb:ΔNp63
gptkb:TAp63
|
|
gptkbp:HGNC_ID
|
HGNC:12003
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
TP63
|
|
gptkbp:locatedOnChromosome
|
3q28
|
|
gptkbp:mutationAssociatedWith
|
developmental disorders
split hand/foot malformation
syndromic cleft lip/palate
|
|
gptkbp:OMIM
|
603273
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Trp63
|
|
gptkbp:proteinFamily
|
gptkb:p53_family
|
|
gptkbp:regulates
|
apoptosis
cell proliferation
differentiation
|
|
gptkbp:UniProtID
|
gptkb:Q9H3D4
|
|
gptkbp:bfsParent
|
gptkb:Tumor_protein_p63
gptkb:p53_protein_family
gptkb:P53_HUMAN
gptkb:3q26.3-q27_(human)
gptkb:ENSG00000141448
|
|
gptkbp:bfsLayer
|
7
|