Gene Gene information from NCBI Gene database.
Entrez ID 8626
Gene name Tumor protein p63
Gene symbol TP63
Synonyms (NCBI Gene)
AISB(p51A)B(p51B)EEC3KETLMSNBPOFC8RHSSHFM4TP53CPTP53LTP73Lp40p51p53CPp63p73Hp73L
Chromosome 3
Chromosome location 3q28
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 gen
SNPs SNP information provided by dbSNP.
60
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.
172
miRTarBase ID miRNA Experiments Reference
MIRT004281 hsa-miR-92a-3p Luciferase reporter assayqRT-PCRWestern blot 19608627
MIRT004248 hsa-miR-203a-3p qRT-PCRWestern blot 18483491
MIRT004248 hsa-miR-203a-3p Luciferase reporter assay 18483491
MIRT005329 hsa-miR-21-5p Luciferase reporter assayqRT-PCRWestern blot 18829576
MIRT004248 hsa-miR-203a-3p Luciferase reporter assay 18311128
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
Transcription factor Regulation Reference
BRCA1 Unknown 16241993
HDAC2 Unknown 21317427
SATB2 Repression 21965674
STAT3 Activation 18198175
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
118
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603273 15979 ENSG00000073282
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
934
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ADULT syndrome Likely pathogenic; Pathogenic rs2108864735, rs113993963, rs113993967, rs113993966, rs121908849 RCV003136064
RCV000006911
RCV000006914
RCV000006923
RCV000006926
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome Pathogenic; Likely pathogenic rs864621968, rs121908842, rs121908843, rs121908845, rs2474724873 RCV005208129
RCV000006909
RCV000006910
RCV000006918
RCV001794436
Auditory neuropathy Likely pathogenic rs2474589841 RCV003484464
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 Likely pathogenic; Pathogenic rs2108804508, rs1404019220, rs864621968, rs797044484, rs121908835, rs121908836, rs121908837, rs2108864810, rs121908839, rs121908840, rs121908841, rs121908844, rs121908849, rs2474609100, rs886041251
View all (4 more)
RCV005638161
RCV001849646
RCV000206266
RCV000190455
RCV000006900
RCV000006901
RCV000006902
RCV000006903
RCV003162215
RCV000006906
RCV000006908
RCV000006915
RCV000006925
RCV003315466
RCV003152702
RCV000023290
RCV000851194
RCV000787270
RCV006252464
RCV000850386
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Ankyloblepharon filiforme adnatum-cleft palate syndrome Uncertain significance rs1159440697 RCV003458971
Bladder exstrophy-epispadias-cloacal extrophy complex Uncertain significance rs200578530 RCV004556090
Cleft Lip +/- Cleft Palate, Autosomal Dominant Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign rs886058225, rs574327104, rs886058228, rs886058229, rs772929136, rs5855278, rs146332971, rs140654135, rs201395656, rs11708746 RCV000271698
RCV000372634
RCV000407099
RCV000407856
RCV000305719
RCV000367020
RCV000277766
RCV000320135
RCV000400398
RCV000270897
Ectrodactyly Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign rs886058225, rs574327104, rs886058228, rs886058229, rs772929136, rs5855278, rs146332971, rs140654135, rs201395656, rs11708746 RCV000301990
RCV000278081
RCV000314402
RCV000299278
RCV000390956
RCV000331015
RCV000308482
RCV000372092
RCV000281489
RCV000315027
Associations from Text MiningDisease 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