Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8626
Gene name Gene Name - the full gene name approved by the HGNC.
Tumor protein p63
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TP63
Synonyms (NCBI Gene) Gene synonyms aliases
AIS, B(p51A), B(p51B), EEC3, KET, LMS, NBP, OFC8, RHS, SHFM4, TP53CP, TP53L, TP73L, p40, p51, p53CP, p63, p73H, p73L
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q28
Summary Summary of gene provided in NCBI Entrez Gene.
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 gen
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs61732782 C>T Conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant
rs113993963 A>C Pathogenic Missense variant, intron variant, coding sequence variant
rs113993964 C>- Pathogenic Frameshift variant, coding sequence variant, genic downstream transcript variant, 3 prime UTR variant
rs113993965 G>A,T Pathogenic Missense variant, intron variant, coding sequence variant
rs113993966 C>G Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT004281 hsa-miR-92a-3p Luciferase reporter assay, qRT-PCR, Western blot 19608627
MIRT004248 hsa-miR-203a-3p qRT-PCR, Western blot 18483491
MIRT004248 hsa-miR-203a-3p Luciferase reporter assay 18483491
MIRT005329 hsa-miR-21-5p Luciferase reporter assay, qRT-PCR, Western blot 18829576
MIRT004248 hsa-miR-203a-3p Luciferase reporter assay 18311128
Transcription factors
Transcription factor Regulation Reference
BRCA1 Unknown 16241993
HDAC2 Unknown 21317427
SATB2 Repression 21965674
STAT3 Activation 18198175
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin IBA
GO:0000785 Component Chromatin IDA 22521434
GO:0000785 Component Chromatin ISA
GO:0000976 Function Transcription cis-regulatory region binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603273 15979 ENSG00000073282
Protein
UniProt ID Q9H3D4
Protein name Tumor protein 63 (p63) (Chronic ulcerative stomatitis protein) (CUSP) (Keratinocyte transcription factor KET) (Transformation-related protein 63) (TP63) (Tumor protein p73-like) (p73L) (p40) (p51)
Protein function Acts as a sequence specific DNA binding transcriptional activator or repressor. The isoforms contain a varying set of transactivation and auto-regulating transactivation inhibiting domains thus showing an isoform specific activity. Isoform 2 act
PDB 1RG6 , 2NB1 , 2RMN , 2Y9T , 2Y9U , 3QYM , 3QYN , 3US0 , 3US1 , 3US2 , 3ZY0 , 3ZY1 , 4A9Z , 6FGN , 6RU6 , 6RU7 , 6RU8 , 7Z71 , 7Z72 , 7Z73 , 7Z7E , 8P9C , 8P9D , 8P9E , 9GFO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00870 P53 167 359 P53 DNA-binding domain Domain
PF07710 P53_tetramer 391 431 P53 tetramerisation motif Motif
PF07647 SAM_2 541 605 SAM domain (Sterile alpha motif) Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed, notably in heart, kidney, placenta, prostate, skeletal muscle, testis and thymus, although the precise isoform varies according to tissue type. Progenitor cell layers of skin, breast, eye and prostate express high lev
Sequence
MNFETSRCATLQYCPDPYIQRFVETPAHFSWKESYYRSTMSQSTQTNEFLSPEVFQHIWD
FLEQPICSVQPIDLNFVDEPSEDGATNKIEISMDCIRMQDSDLSDPMWPQYTNLGLLNSM
DQQIQNGSSSTSPYNTDHAQNSVTAPSPYAQPSSTFDALSPSPAIPSNTDYPGPHSFDVS
FQQSSTAKSATWTYSTELKKLYCQIAKTCPIQIKVMTPPPQGAVIRAMPVYKKAEHVTEV
VKRCPNHELSREFNEGQIAPPSHLIRVEGNSHAQYVEDPITGRQSVLVPYEPPQVGTEFT
TVLYNFMCNSSCVGGMNRRPILIIVTLETRDGQVLGRRCFEARICACPGRDRKADEDSI
R
KQQVSDSTKNGDGTKRPFRQNTHGIQMTSIKKRRSPDDELLYLPVRGRETYEMLLKIKES
LELMQYLPQHT
IETYRQQQQQQHQHLLQKQTSIQSPSSYGNSSPPLNKMNSMNKLPSVSQ
LINPQQRNALTPTTIPDGMGANIPMMGTHMPMAGDMNGLSPTQALPPPLSMPSTSHCTPP
PPYPTDCSIVSFLARLGCSSCLDYFTTQGLTTIYQIEHYSMDDLASLKIPEQFRHAIWKG
ILDHR
QLHEFSSPSHLLRTPSSASTVSVGSSETRGERVIDAVRFTLRQTISFPPRDEWND
FNFDMDARRNKQQRIKEEGE
Sequence length 680
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  MicroRNAs in cancer   Activation of PUMA and translocation to mitochondria
TP53 Regulates Metabolic Genes
TP53 Regulates Transcription of Genes Involved in Cytochrome C Release
TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain
TP53 Regulates Transcription of Caspase Activators and Caspases
TP53 Regulates Transcription of Death Receptors and Ligands
Regulation of TP53 Activity through Association with Co-factors
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 rs121908839, rs121908840, rs121908849, rs1577195893, rs121908841, rs774221257, rs864621968, rs121908835, rs121908836, rs797044484, rs886041251, rs121908837, rs1553856553, rs2108864810, rs121908844 N/A
Orofacial Cleft orofacial cleft 8 rs1560277554 N/A
Premature Ovarian Failure Premature ovarian failure 21 rs1560311010, rs900140738 N/A
Split-Hand-Foot Malformation Split hand-foot malformation 4 rs121908839, rs1718026198, rs121908836, rs121908838 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Cancer Postmenopausal breast cancer N/A N/A GWAS
Carcinoma Squamous cell carcinoma N/A N/A GWAS
Cleft Lip With Or Without Cleft Palate Cleft Lip +/- Cleft Palate, Autosomal Dominant, Cleft lip with or without cleft palate N/A N/A ClinVar, GWAS
Ectrodactyly ectrodactyly N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acromelic frontonasal dysplasia Associate 38281558
Adenocarcinoma Associate 11600462, 15389254, 17425380, 18432259, 20068475, 20808915, 21610222, 21623236, 22623086, 23196793, 24178677, 24258618, 24299561, 24509874, 25189640
View all (5 more)
Adenocarcinoma Inhibit 18411784
Adenocarcinoma Bronchiolo Alveolar Associate 15205681, 18432259
Adenocarcinoma Mucinous Associate 30258209, 34103667
Adenocarcinoma of Lung Associate 21610222, 22367405, 24377560, 24466311, 24880342, 25189640, 27063419, 27501781, 32360590, 38478955, 39187946
Adenolymphoma Associate 22990554
Adenoma Associate 22623086
Adenoma Stimulate 31056618
Agnosia Associate 29196523