TP63 Gene
protein-coding GIFtS : 65
GCID: GC03 P189349
tumor protein p63 (Previous names: tumor protein p73-like, tumor protein p53-like, tumor protein... ) (Previous symbols: TP73L, TP53L, TP53CP )
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Aliasesfor TP63 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Tumor Protein P63 1 2 Keratinocyte Transcription Factor KET2 3 KET1 2 3 5 Transformation-Related Protein 632 3 TP73L1 2 3 5 CUSP2 3 P511 P401 P633 LMS2 5 P73L3 RHS2 5 EEC31 2 5 Tumor Protein P53-Like1 OFC81 2 5 AIS2 SHFM41 2 5 B(P51A)1 NBP1 2 B(P51B)1 TP53CP1 2 Amplified In Squamous Cell Carcinoma2 TP53L1 2 Tumor Protein 632 P53CP1 Tumor Protein P63 DeltaN Isoform Delta2 P73H3 P633 Tumor Protein P53-Competing Protein1 2 P73H3 Tumor Protein P73-Like1 3 P73L3 Chronic Ulcerative Stomatitis Protein2 3
Export aliases for TP63 gene to outside databases Previous GC identifers: GC03P186351 GC03P190832 GC03P186752
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Summariesfor TP63 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for TP63 : This gene encodes a member of the p53 family of transcription factors. An animal model, p63 -/- mice, has been useful in defining the role this protein plays in the development and maintenance of stratified epithelial tissues. p63 -/- mice have several developmental defects which include the lack of limbs and other tissues, such as teeth and mammary glands, which develop as a result of interactions between mesenchyme and epithelium. 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. Both alternative splicing and the use of alternative promoters results in multiple transcript variants encoding different proteins. Many transcripts encoding different proteins have been reported but the biological validity and the full-length nature of these variants have not been determined. (provided by RefSeq, Jul 2008) UniProtKB/Swiss-Prot: P63_HUMAN, Q9H3D4 Function : Acts as a sequence specific DNA binding transcriptional activator or repressor. The isoforms contain avarying set of transactivation and auto-regulating transactivation inhibiting domains thus showing an isoform specific activity. Isoform 2 activates RIPK4 transcription. May be required in conjunction with TP73/p73 for initiation of p53/TP53 dependent apoptosis in response to genotoxic insults and the presence of activated oncogenes. Involved in Notch signaling by probably inducing JAG1 and JAG2. Plays a role in the regulation of epithelial morphogenesis. The ratio of DeltaN-type and TA*-type isoforms may govern the maintenance of epithelial stem cell compartments and regulate the initiation of epithelial stratification from the undifferentiated embryonal ectoderm. Required for limb formation from the apical ectodermal ridge. Activates transcription of the p21 promoter Gene Wiki entry for TP63
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Genomic Viewsfor TP63 gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,
and/or miRBase ,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000003.11 NC_018914.1 NT_005612.16 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the TP63 gene promoter: GR GR-beta p300 Lmo2 CUTL1 Evi-1 AREB6 GR-alpha Other transcription factors Search SABiosciences Chromatin IP Primers for TP63 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TP63
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 3q28 Ensembl cytogenetic band: 3q28 HGNC cytogenetic band: 3q27-q29 TP63 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 3 GeneLoc Exon Structure
GeneLoc location for GC03P189349: view genomic region
(about GC identifiers )
Start:
189,349,205 bp from pter
End:
189,615,068 bp from pter
Size:
265,864 bases
Orientation:
plus strand
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Proteinsfor TP63 gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
EMD Millipore ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological ,
ProSpec , and/or
Uscn ,
Biochemical Assays by
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
About This Section UniProtKB/Swiss-Prot: P63_HUMAN, Q9H3D4 (See
protein sequence )Recommended Name: Tumor protein 63 Size : 680 amino acids; 76785 Da
Cofactor : Binds 1 zinc ion per subunit (By similarity)
Subunit : Binds DNA as a homotetramer. Isoform composition of the tetramer may determine transactivation activity.Isoforms Alpha and Gamma interact with HIPK2. Interacts with SSRP1, leading to stimulate coactivator activity. Isoform 1 and isoform 2 interact with WWP1. Interacts with PDS5A. Isoform 5 (via activation domain) interacts with NOC2L
Subcellular location : Nucleus
Sequence caution : Sequence=AAF43486.1; Type=Erroneous initiation; Sequence=AAF43487.1; Type=Erroneous initiation;Sequence=AAF43488.1; Type=Erroneous initiation; Sequence=AAF43489.1; Type=Erroneous initiation; Sequence=AAF61624.1; Type=Frameshift; Positions=26; Sequence=BAA32592.1; Type=Frameshift; Positions=26; Sequence=BAA32593.1; Type=Frameshift; Positions=26;
6/12 PDB 3D structures from and Proteopedia for TP63 (see all 12 ):1RG6 (3D)
  2RMN (3D)
  2Y9T (3D)
  2Y9U (3D)
  3QYM (3D)
  3QYN (3D)
 
Secondary accessions : O75080 O75195 O75922 O76078 Q6VEG2 Q6VEG3 Q6VEG4 Q6VFJ1 Q6VFJ2 Q6VFJ3 Q6VH20Q7LDI3 Q7LDI4 Q7LDI5 Q96KR0 Q9H3D2 Q9H3D3 Q9H3P8 Q9NPH7 Q9P1B4 Q9P1B5 Q9P1B6 Q9P1B7 Q9UBV9 Q9UE10 Q9UP26 Q9UP27 Q9UP28 Q9UP74 Alternative promoter usage, Alternative splicing : 12 isoforms : Q9H3D4-1 Q9H3D4-2 Q9H3D4-3 Q9H3D4-4 Q9H3D4-5 Q9H3D4-6 Q9H3D4-7 Q9H3D4-8 Q9H3D4-9 Q9H3D4-10 Q9H3D4-11 Q9H3D4-12 (Produced by alternative splicing of isoform 2. No experimental confirmation available. Variant in position: 6:N->H (in ADULT syndrome))Explore the universe of human proteins at neXtProt for TP63: NX_Q9H3D4 Post-translational modifications:
May be sumoylated (By similarity)1
Ubiquitinated. Polyubiquitination involves WWP1 and leads to proteasomal degradation of this protein1
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_Q9H3D4 TP63 Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins (6 alternative transcripts):
NP_001108450.1 NP_001108451.1 NP_001108452.1 NP_001108453.1 NP_001108454.1 NP_003713.3 ENSEMBL proteins: ENSP00000264731 ENSP00000407144 ENSP00000317510 ENSP00000376253 ENSP00000394337 ENSP00000371495 ENSP00000346614 ENSP00000401661 ENSP00000392488 ENSP00000376256 ENSP00000376254 ENSP00000387839 ENSP00000389485 Human Recombinant Protein Products: Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10 ): About this table
TP63 for ontologies About GeneDecksing TP63 Antibody Products: Assay Products for TP63:
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Protein
Domains / Familiesfor TP63 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
TP63 for domains About GeneDecksing 5/8 InterPro domains/families (see all 8 ):
Graphical View of Domain Structure for InterPro Entry Q9H3D4 ProtoNet protein and cluster: Q9H3D4
3 Blocks protein families : IPB001660 Sterile alpha motif SAM IPB010991 p53 IPB011510 Sterile alpha motif homology 2 UniProtKB/Swiss-Prot: P63_HUMAN, Q9H3D4 Domain : The transactivation inhibitory domain (TID) can interact with, and inhibit the activity of the N-terminaltranscriptional activation domain of TA*-type isoforms Similarity : Belongs to the p53 familySimilarity : Contains 1 SAM (sterile alpha motif) domain
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Functionfor TP63 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences ,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Function Summary: UniProtKB/Swiss-Prot: P63_HUMAN, Q9H3D4 Function : Acts as a sequence specific DNA binding transcriptional activator or repressor. The isoforms contain avarying set of transactivation and auto-regulating transactivation inhibiting domains thus showing an isoform specific activity. Isoform 2 activates RIPK4 transcription. May be required in conjunction with TP73/p73 for initiation of p53/TP53 dependent apoptosis in response to genotoxic insults and the presence of activated oncogenes. Involved in Notch signaling by probably inducing JAG1 and JAG2. Plays a role in the regulation of epithelial morphogenesis. The ratio of DeltaN-type and TA*-type isoforms may govern the maintenance of epithelial stem cell compartments and regulate the initiation of epithelial stratification from the undifferentiated embryonal ectoderm. Required for limb formation from the apical ectodermal ridge. Activates transcription of the p21 promoter
Genatlas biochemistry entry for TP63 : TP63 homolog to TP53 and to TP73,highly expressed in the basal or progenitor layers of many epithelial tissues,encoding six isoforms transcribed from two promoters,one yielding,the other lacking a transactivation domain (respectively TA-p63,Delta N-p63),combined with alternative splicing producing the isotypes alpha,beta,gamma,playing a critical in the maintenance of the progenitor-cell populations necessary to sustain epithelial development and morphogenesis Clone Products: Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for TP63 (see all 14 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for TP63 (see all 8 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 6 ): TP63 (NM_003722 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for TP63 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat TP63
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TP63
Gene Ontology (GO): 5/12 molecular function terms (GO ID links to tree view) (see all 12 ): About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
IEA -- GO:0002039 p53 binding
IBA -- GO:0003677 DNA binding
NAS 9662346 GO:0003682 chromatin binding
IDA -- GO:0003684 damaged DNA binding
IBA --
TP63 for ontologies About GeneDecksing 2 GenomeRNAi human phenotypes for TP63 :Animal Models: Mouse knock-outs for TP63: Trp63 tm2Brd Trp63 tm1Fmc Trp63 tm3.2Brd Trp63 tm1Brd Trp63 tm2Fmc Trp63 tm1.1Elrf 15/22 MGI mutant phenotypes (inferred from 11 alleles ) (MGI details for Trp63) (see all 22 ):
TP63 for phenotypes About GeneDecksing
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Pathways & Interactionsfor TP63 gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
Reactome ,
Tocris Bioscience ,
GeneGo (Thomson Reuters) ,
QIAGEN ,
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Interaction Networks according to
SABiosciences ,
and/or STRING ,
Interactions according to 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Unified GeneCards pathways  - 5/6 super-pathways (see all 6 ) About this table See pathways by source Super-pathway contained gene-specific pathways 1 Development_Notch Signaling Pathway 2 Cell Cycle / Checkpoint Control 3 TP53 network 4 Direct p53 effectors 5 DNA Damage
Pathway sources See GeneCards unified pathways Show all pathways 1 EMD Millipore Pathway for TP63 2
Cell Signaling Technology (CST) Pathways for TP63 1 GeneGo (Thomson Reuters) Pathway for TP63 3 BioSystems Pathways for TP63
TP63 for pathways About GeneDecksing Interactions: SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TP63 STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)5/121 Interacting proteins for TP63 (Q9H3D4 1 , 2 , 3 ENSP00000264731 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 121 )Interactant Interaction Details GeneCard External ID(s) SATB2 Q9UPW6 2 , 3 , ENSP00000260926 4 MINT-8040599 MINT-8040614 MINT-8040583 MINT-8040535 MINT-8044440 MINT-8040642 MINT-8040525 MINT-8040627 I2D:
score=1 STRING: ENSP00000260926 TP53 P04637 1 , 3 , ENSP00000269305 4 EBI-2337775,EBI-366083 I2D:
score=5 STRING: ENSP00000269305 SMAD2 Q15796 1 , 3 , ENSP00000262160 4 EBI-2337775,EBI-1040141 I2D:
score=1 STRING: ENSP00000262160 CABLES1 Q8TDN4 2 , 3 , ENSP00000256925 4 MINT-7988829 MINT-7988887 MINT-7988815 MINT-7988867 MINT-7988849 MINT-7988907 MINT-7988919 I2D:
score=1 STRING: ENSP00000256925 PPP1R13B Q96KQ4 2 , 3 , ENSP00000202556 4 MINT-45876 MINT-45877 I2D:
score=3 STRING: ENSP00000202556
About this table Gene Ontology (GO): 5/54 biological process terms (GO ID links to tree view) (see all 54 ): About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0000122 negative regulation of transcription from RNA polymerase II promoter
IBA -- GO:0001501 skeletal system development
IEA -- GO:0001736 establishment of planar polarity
IEA -- GO:0001738 morphogenesis of a polarized epithelium
-- -- GO:0001942 hair follicle development
-- --
TP63 for ontologies About GeneDecksing
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Drugs & Compoundsfor TP63 gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , and Drugs according to
DrugBank ,
Enzo Life Sciences , and/or
PharmGKB , with drugs/clinical trials/news
search links to CenterWatch )
About This Section
TP63 for compounds About GeneDecksing Browse Tocris compounds for TP63 10/27 Novoseek chemical compound relationships for TP63 gene (see all 27 ) About this table
Compound
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
noxa
55.3
4
20195489 (1), 16363065 (1), 16413463 (1)
dmso
51.2
33
15922574 (3), 16884378 (3), 16319057 (2), 19700772 (2) (see all 18 )
hematoxylin
49.9
5
16138374 (1), 12760288 (1), 15832080 (1), 17927587 (1) (see all 5 )
mucicarmine
43.1
2
11136565 (1), 11023104 (1)
estrogen
40
27
12653579 (2), 16625090 (1), 17214855 (1), 20222992 (1) (see all 23 )
progesterone
36.5
21
14693844 (1), 16241993 (1), 16625090 (1), 20222992 (1) (see all 20 )
2-methoxyethanol
35.5
6
12811858 (4), 15762278 (1)
paraffin
34.5
11
19877114 (1), 17285325 (1), 17912630 (1), 18619959 (1) (see all 11 )
b 723
32.3
5
16415794 (3), 14652817 (1), 17515511 (1)
bromodeoxyuridine
18.8
15
19122469 (5), 19034133 (3), 16424398 (1), 16123387 (1)
Search CenterWatch for drugs/clinical trials and news about TP63 / P63
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Transcriptsfor TP63 gene (Secondary structures according to
fRNAdb ,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
microRNA from QIAGEN ,
Tagged/untagged cDNA clones from
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for TP63 gene (6 alternative transcripts): NM_001114978.1 NM_001114979.1 NM_001114980.1 NM_001114981.1 NM_001114982.1 NM_003722.4 Unigene Cluster for TP63:
Tumor protein p63 Hs.137569 [show with all ESTs ] Unigene Representative Sequence: BC039815 15 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000486398 ENST00000264731 (uc003fry.2 uc003frz.2 uc010hzc.1 )ENST00000418709 (uc003frx.2 ) ENST00000320472 ENST00000392460 ENST00000440651 ENST00000382063 ENST00000354600 (uc003fsc.2 uc003fsd.2 uc021xir.1 uc010hzd.1 )ENST00000434928 ENST00000460036 (uc003fsa.2 ) ENST00000437221 (uc003fsb.2 )ENST00000392463 ENST00000392461 ENST00000449992 ENST00000456148 (uc003fse.1 )Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for TP63 (see all 14 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for TP63 (see all 8 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 6 ): TP63 (NM_003722 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for TP63 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat TP63
Additional cDNA sequence: AB010153.1 AB016072.1 AB042841.1 AF075428.1 AF075429.1 AF075430.1 AF075431.1 AF075432.1 AF075433.1 AF091627.1 AF116771.1 AJ315499.1 AK304127.1 BC039815.1 GQ202689.1 GQ202690.1 Y16961.1
9 DOTS entries : DT.113716 DT.95374522
DT.75166481 DT.95374523 DT.100767943 DT.100767944 DT.100767942 DT.91857800 DT.95374521 24/132 AceView cDNA sequences (see all 132 ):
AF075432 AL698769 BQ027588 AA455929 AI278271 BC039815 NM_003722 BX447464 BQ045216 AA025687 W76490 AB016072 BX504901 AL698768 BM083305 BX103828 AW292021 AF075429 AI122593 AF075430 AF075431 BG676240 AF116771 AF075428 GeneLoc Exon Structure 5/9 Alternative Splicing Database (ASD) splice patterns (SP) for TP63 (see all 9 ) About this scheme ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17a · 17b · 17c · 17d SP1 :         -   -   -   -     -               -   -   -                 SP2 :                   -               -   -   -                 SP3 :         -   -   -   -     -               -   -   -     -   -           SP4 :                 -   -               -   -   -                 SP5 :         -   -   -   -     -               -                    
ECgene alternative splicing isoforms for TP63
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Expression for TP63 gene
(RNA expression data according to
H-InvDB ,
NONCODE ,
miRBase , and
RNAdb ,
Expression images according to data from
BioGPS ,
Illumina Human BodyMap , and
CGAP
SAGE ,
Sets of similar genes according to GeneDecks ,
in vivo and in vitro expression data from LifeMap Discovery™ ,
plus additional links to
Genevestigator , and/or
SOURCE , and/or
BioGPS , and/or
UniProtKB ,
PCR Arrays from
SABiosciences ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN ,
In Situ Hybridization Assays from Advanced Cell Diagnostics )
About This Section TP63 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: CAATAAAATT
About this image TP63 expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table See TP63 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for TP63 SOURCE GeneReport for Unigene cluster: Hs.137569 UniProtKB/Swiss-Prot: P63_HUMAN, Q9H3D4 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 levels of DeltaN-type isoforms. Isoform 10 is predominantly expressed in skin squamous cell carcinomas, but not in normal skin tissues SABiosciences Expression via Pathway-Focused PCR Arrays including TP63 : Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for TP63Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat TP63 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat TP63 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat TP63 In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TP63
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Orthologsfor TP63 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section
This gene was present in the common ancestor of animals.
Orthologs for TP63 gene from 6/19 species (see all 19 ) About this table
ENSEMBL Gene Tree for TP63 (if available)TreeFam Gene Tree for TP63 (if available)
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Paralogsfor TP63 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for TP63 gene TP73 2 TP53 2 18/25 SIMAP similar genes for TP63 using alignment to 4 protein entries: P63_HUMAN (see all proteins )
(see all similar genes ):RHOA FLJ00047 KIAA0101 SNRPF C12orf76 COQ5 p53 NCKAP1L HC6 LOC100996300 TP73 GALK2 GEMIN6 PFKFB3 SH2B3 TP53 pp12301 FP6778
TP63 for paralogs About GeneDecksing
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Genomic Variantsfor TP63 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , and
DNA2.0 ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB) , Blood group antigen gene mutations by BGMUT ,
Resequencing Primers from QIAGEN ,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences )
About This Section
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr 3 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for TP63 (189349205 - 189599205 bp, first 250kb of TP63)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 35 variations for TP63 15/27 CNVs (see all 27 ): 91763 80042 98567 44097 80040 80041 91764 98568 22814 36120 59609 80043 98566 91766 91767 8 Indels : 62136 51036 46351 11219 38060 59116 46352 33375 Human Gene Mutation Database (HGMD) : TP63 Locus Specific Mutation Databases (LSDB): TP63 SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing TP63
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Disorders
/ Diseasesfor TP63 gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database , Novoseek ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
TP63 for disorders About GeneDecksing OMIM gene information: 603273 OMIM disorders : 604292 605289 106260 103285 603543 129400 UniProtKB/Swiss-Prot: P63_HUMAN, Q9H3D4
Defects in TP63 are the cause of acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome) [MIM:103285]; a form of ectodermal dysplasia. Ectodermal dysplasias (EDs) constitute a heterogeneous group of developmental disorders affecting tissues of ectodermal origin. EDs are characterized by abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. ADULT syndrome involves ectrodactyly, syndactyly, finger- and toenail dysplasia, hypoplastic breasts and nipples, intensive freckling, lacrimal duct atresia, frontal alopecia, primary hypodontia, and loss of permanent teeth. ADULT differs significantly from EEC3 syndrome by the absence of facial clefting Defects in TP63 are the cause of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) [MIM:106260]. AEC is an autosomal dominant condition characterized by congenital ectodermal dysplasia with coarse, wiry, sparse hair, dystrophic nails, slight hypohidrosis, scalp infections, ankyloblepharon filiform adnatum, maxillary hypoplasia, hypodontia and cleft lip/palate Defects in TP63 are the cause of ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]. EEC3 is an autosomal dominant syndrome characterized by ectrodactyly of hands and feet, ectodermal dysplasia and facial clefting Defects in TP63 are the cause of split-hand/foot malformation type 4 (SHFM4) [MIM:605289]. Split-hand/split-foot malformation is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. There is restricted overlap between the mutational spectra of EEC3 and SHFM4 Defects in TP63 are the cause of limb-mammary syndrome (LMS) [MIM:603543]. LMS is characterized by ectrodactyly, cleft palate and mammary-gland abnormalities Note=Defects in TP63 are a cause of cervical, colon, head and neck, lung and ovarian cancers Defects in TP63 are a cause of ectodermal dysplasia Rapp-Hodgkin type (EDRH) [MIM:129400]; also called Rapp-Hodgkin syndrome or anhidrotic ectodermal dysplasia with cleft lip/palate. Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. EDRH is characterized by the combination of anhidrotic ectodermal dysplasia, cleft lip, and cleft palate. The clinical syndrome is comprised of a characteristic facies (narrow nose and small mouth), wiry, slow-growing, and uncombable hair, sparse eyelashes and eyebrows, obstructed lacrimal puncta/epiphora, bilateral stenosis of external auditory canals, microsomia, hypodontia, cone-shaped incisors, enamel hypoplasia, dystrophic nails, and cleft lip/cleft palate Defects in TP63 are the cause of non-syndromic orofacial cleft type 8 (OFC8) [MIM:129400]. Non-syndromic orofacial cleft is a common birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum 20/179 diseases for TP63 (see all 179 ): About MalaCards split hand/foot malformation cleft lip/palate cleft lip limb-mammary syndrome orofacial cleft 8 ectodermal dysplasia mayer-rokitansky-kuster-hauser syndrome rokitansky-kuster-hauser syndrome orofacial cleft squamous cell carcinoma ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 split-hand/foot malformation, type 4 tricho-dento-osseous syndrome ulcerative stomatitis polymorphous low-grade adenocarcinoma rapp-hodgkin syndrome carcinoma stomatitis adult syndrome hay-wells syndrome 4 diseases from the University of Copenhagen DISEASES database for TP63 :Cleft lip ADULT syndrome Leiomyosarcoma Ulcerative stomatitis 10/97 Novoseek disease relationships for TP63 gene (see all 97 ) About this table
Disease
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
aec syndrome
93.4
30
19676060 (2), 12766194 (2), 11159940 (2), 16365259 (2) (see all 20 )
rapp-hodgkin syndrome
90.7
10
15725251 (2), 12939657 (2), 12766194 (1), 15748593 (1) (see all 7 )
shfm4
89.3
6
16688749 (1), 16724007 (1), 18515319 (1), 16691619 (1) (see all 5 )
ectrodactyly
88.6
29
14656652 (4), 11462173 (2), 15736220 (2), 11903230 (2) (see all 19 )
ectodermal dysplasia
88.6
55
11903230 (3), 18633439 (2), 12766194 (2), 20424325 (2) (see all 37 )
ankyloblepharon
88.5
12
16365259 (2), 19681128 (1), 16177572 (1), 18364388 (1) (see all 10 )
limb-mammary syndrome
85.8
5
11462173 (2), 14656652 (1), 11929852 (1), 17164413 (1)
adult syndrome
82.3
22
11528512 (3), 16724007 (3), 19781362 (3), 11929852 (2) (see all 11 )
malformation foot
77.6
8
11462173 (2), 14656652 (1), 11595015 (1), 17224651 (1) (see all 5 )
limb malformation
73.8
4
19676060 (1), 16724007 (1), 17609671 (1), 17041931 (1)
Human Genome Epidemiology (HuGE) Navigator: TP63 (17 documents) Export disorders for TP63 gene to outside databases
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Publicationsfor TP63 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for TP63 gene, integrated from 9 sources (see all 1068 ): (articles sorted by number of sources associating them with TP63) Utopia : connect your pdf to the dynamic world of online information
p63, a p53 homolog at 3q27-29, encodes multiple products with transactivating, death-inducing, and dominant-negative activities. (PubMed id 9774969) 1 , 2 , 3, 9 Yang A.... McKeon F. (1998) Cloning and functional analysis of human p51, which structurally and functionally resembles p53. (PubMed id 9662378) 1 , 2 , 3 Osada M....Ikawa S. (1998) Transcriptional dysregulation of the p73L/p63/p51/p40/KET gene in human squamous cell carcinomas: expression of Delta Np73L, a novel dominant-negative isoform, and loss of expression of the potential tumour suppressor p51. (PubMed id 11336476) 1 , 2 , 9 Senoo M.... Habu S. (2001) High thermostability and lack of cooperative DNA binding distinguish the p63 core domain from the homologous tumor suppressor p53. (PubMed id 11477076) 1 , 2 , 9 Klein C.... Hansen S. (2001) Mutation and expression of the p51 gene in human lung cancer. (PubMed id 10935472) 1 , 2 , 9 Tani M....Yokota J. (1999) p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype- phenotype correlation. (PubMed id 11462173) 1 , 2 , 9 van Bokhoven H.... Brunner H.G. (2001) p73 and p63 are homotetramers capable of weak heterotypic interactions with each other but not with p53. (PubMed id 10373484) 1 , 2 , 9 Davison T.S....Arrowsmith C.H. (1999) The p53 family member genes are involved in the Notch signal pathway. (PubMed id 11641404) 1 , 2 , 9 Sasaki Y.... Tokino T. (2002) A C-terminal inhibitory domain controls the activity of p63 by an intramolecular mechanism. (PubMed id 12446779) 1 , 2 , 9 Serber Z.... Doetsch V. (2002) Complex transcriptional effects of p63 isoforms: identification of novel activation and repression domains. (PubMed id 12446784) 1 , 2 , 9 Ghioni P....Guerrini L. (2002)
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External Searches for TP63 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing TP63 gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
About This Section
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Other Databases showing TP63 gene
(According to HUGE )
About This Section --
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Specialized Databases showing TP63 gene (According to PharmGKB ,
ATLAS , HORDE , IMGT , LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
Name Description
PharmGKB entry for TP63 Pharmacogenomics, SNPs, Pathways GeneReviews http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TP63
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About This Section Patent Information for TP63 gene: Search GeneIP for patents involving TP63 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor TP63 gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript and LifeMap BioReagents , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences ), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
OriGene Antibodies for TP63 OriGene shRNA RFP for TP63 OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for TP63 OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for TP63 OriGene Protein Over-expression Lysate for TP63 Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for TP63 OriGene 3'-UTR Clone for TP63 OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for TP63 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for TP63 Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs OriGene Purified Protein for TP63 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for TP63 OriGene Custom Protein Services for TP63 OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat TP63 QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing TP63 QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TP63 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat TP63 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat TP63 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat TP63
Antibodies & Assays for TP63   (p63)
Search Tocris compounds for TP63
TP63 Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TP63
ThermoFisher Antibodies for TP63
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat TP63
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