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TP63 Gene

protein-coding   GIFtS: 62

GC03P190832
tumor protein p63
(Previous names: tumor protein p73-like, tumor protein p53-like, tumor protein p53-competing protein )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: TP73L, TP53L, TP53CP)
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Aliases &
Descriptions
for TP63

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section
Aliases
AIS 2
B(p51A) 2
B(p51B) 2
CUSP 3
EEC3 1, 2, 5
KET 1, 2, 3, 5
LMS 2, 5
NBP 1, 2
OFC8 1, 2, 5
P63 3
P73H 3
P73L 3
RHS 2, 5
SHFM4 1, 2, 5
TP53CP 2
TP53L 2
TP73L 2, 3, 5
p40 2, 3
p51 1, 2, 3
p53CP 1, 2
p63 1, 2, 3
p73H 1, 2
p73L 1, 2, 3
Descriptions
Chronic ulcerative stomatitis protein 2, 3
Keratinocyte transcription factor KET 3
Transformation-related protein 63 2, 3
Tumor protein p73-like 1, 2, 3
amplified in squamous cell carcinoma 2
keratinocyte transcription factor 2
tumor protein p53-competing protein 1, 2
tumor protein p53-like 1, 2
tumor protein p63 2
External Ids
HGNC: 159791
Entrez Gene: 86262
UniProtKB: Q9H3D43
Ensembl: ENSG000000732827
Search outside databases for aliases for TP63 gene

Previous GC identifer: GC03P186351

Summaries
for TP63

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

 EntrezGene 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]

UniProtKB/Swiss-Prot: P63_HUMAN, Q9H3D4
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. May be required in conjunction with TP73/p73
for initiation of TP53/p53 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

Gene Wiki entry for TP63

Genomic Location
for TP63

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

 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 gene densities for chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P190832:     (about GC identifiers)

Start:
 190,831,910 bp from pter
End:
 191,107,935 bp from pter
Size:
 276,026 bases
Orientation:
 plus strand
RefSeq DNA sequence:
NC_000003.10  NT_005612.15  

Proteins
for TP63

(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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
Subcellular location: Nucleus
Sequence caution: Sequence=AAF61624.1; Type=Frameshift; Positions=26; Sequence=BAA32592.1;
Type=Frameshift; Positions=26; Sequence=BAA32593.1; Type=Frameshift; Positions=26;
PDB structure from and Proteopedia :
1RG6 (3D)    2RMN (3D)    
Secondary accessions: O75080 O75195 O75922 O76078 Q6VEG2 Q6VEG3 Q6VEG4 Q6VFJ1 Q6VFJ2 Q6VFJ3 Q6VH20
Q7LDI3 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   

Post-translational modifications:

  • May be sumoylated (By similarity)1
  • View phosphorylation sites using PhosphoSite2


    • 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: 
    ENSP00000376256 ENSP00000264731 ENSP00000371495 ENSP00000317510 ENSP00000346614 ENSP00000376254 
    ENSP00000376253 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (AMACR + p63, p63, p63 Protein + HMW Cytokeratin, p51B, p51A)
    Human Recombinant Proteins from Abnova (TP73L)
                  OriGene Purified Recombinant Human Protein: TP63 

    4 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634 nucleus NAS9774969
    GO:0005737 cytoplasm IDA10657951
    GO:0005856 cytoskeleton IDA18029348
    GO:0005925 focal adhesion IDA18029348
    About this table

    Antibodies for TP63: 
    Invitrogen Antibodies for TP63
    Millipore Mono- and Polyclonal Antibodies for the study of TP63
    Sigma-Aldrich Antibody Arrays and Antibodies for TP63
    R&D Systems Antibodies for TP63 (TP63/TP73L)
    Antibodies from Abcam (AMACR + p63, p63, p63 Protein + HMW Cytokeratin, p51B, p51A), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (TP73L)
    Novus Biologicals Antibodies for TP63

    Assays for TP63: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    Protein Domains/
    Families
    for TP63

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/8 InterPro domains/families (see all 8 ):
     IPR011615 p53_DNA_bd
     IPR012346 p53_RUNT_DNA_bd
     IPR002117 p53_tumour_Ag
     IPR013761 SAM_type
     IPR001660 SAM


       GeneDecks  TP63 for the domains selected above  
    About GeneDecksing

    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-terminal transcriptional activation domain of TA*-type isoforms
    Similarity: Belongs to the p53 family
    Similarity: Contains 1 SAM (sterile alpha motif) domain

    Gene Function
    for TP63

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section
    Inhib.
    RNA:    		Invitrogen RNAi Products for gene knock-down (TP63)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (TP73L)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 6): NM_001114978

                  Applied Biosystems Silencer® siRNAs for TP63

                  Sigma-Aldrich siRNA for TP63  
                         Sigma-Aldrich shRNA Panels and shRNA for TP63  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for TP63
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 6): NM_001114978
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 6): NM_001114978
                                     untagged cDNA clones in CMV expression vector (see all 8): NM_001114978 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_003722

    UniProtKB/Swiss-Prot: P63_HUMAN, Q9H3D4
    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. May be required in conjunction with TP73/p73
    for initiation of TP53/p53 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

    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

    15/22 MGI mutant phenotypes (inferred from 8 alleles) (MGI details for Trp63) (see all 22 ):

    behavior/neurologicalcellularcraniofacialdigestive/alimentary
    embryogenesisendocrine/exocrine glandgrowth/sizehearing/vestibular/earhomeostasis/metabolism
    immune systemlethality-prenatal/perinatallife span-post-weaning/aginglimbs/digits/tailmuscle

    5/6 Gene Ontology (GO) molecular function terms (links to tree view) (see all 6 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003700 transcription factor activity IEA--
    GO:0008270 zinc ion binding IEA--
    GO:0016563 transcription activator activity NAS9774969
    GO:0016564 transcription repressor activity IDA12446784
    GO:0042802 identical protein binding IPI12446779
    About this table

    Pathways & Interactions
    for TP63

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


    1 Millipore Pathway for TP63
     Development Notch Signaling Pathway

       GeneDecks  TP63 for the pathways selected above  
    About GeneDecksing

    2 Sigma-Aldrich "Your Favorite Gene" Pathways for  TP63  (Your Favorite Gene powered by Ingenuity) 
     p53 Signaling
     Calcium Signaling

       GeneDecks  TP63 for the pathways selected above  
    About GeneDecksing

     Gene Network CentralTM Interacting Genes and Proteins Network for  TP63 


    5/18 Interacting proteins for TP63 (ENSP000002647313 Q9H3D42) via UniProtKB, MINT, and/or STRING (see all 18 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PPP1R13BQ96KQ42MINT-45876 MINT-45877
    YAP1P469372MINT-3388996
    SHFM1ENSP000002485663STRING (score=.959)
    FBXW4ENSP000003591493STRING (score=.949)
    FGF4ENSP000001687123STRING (score=.892)
    About this table

    5/9 Gene Ontology (GO) biological process terms (links to tree view) (see all 9 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002347 response to tumor cell IEA--
    GO:0006915 apoptosis IDA9774969
    GO:0006917 induction of apoptosis TAS9662378
    GO:0007275 multicellular organismal development IEA--
    GO:0030308 negative regulation of cell growth IEA--
    About this table

    Drugs & Compounds
    for TP63

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for TP63
    10/15 Novoseek chemical compound relationships for TP63 gene (see all 15 )
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    noxa 56.10 3 16363065 (1), 16413463 (1)
    hematoxylin 52.17 5 16138374 (1), 12760288 (1), 15832080 (1), 17927587 (1) (see all 5)
    mucicarmine 34.98 2 11136565 (1), 11023104 (1)
    b 723 34.89 5 16415794 (3), 14652817 (1), 17515511 (1)
    progesterone 31.69 14 14693844 (1), 16241993 (1), 16625090 (1), 17448018 (1) (see all 13)
    bromodeoxyuridine 19.18 15 19122469 (5), 19034133 (3), 16424398 (1), 16123387 (1)
    matrigel 12.92 2 16916750 (1), 12692787 (1)
    calcium 0.51 1 10873608 (1)
    lysine 0.00 3 16861923 (1)
    p003 0.00 1 16391849 (1)
    About this table


    Transcripts
    for TP63

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section
    Inhib.
    RNA:    		Invitrogen RNAi Products for gene knock-down (TP63)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (TP73L)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 6): NM_001114978

                  Sigma-Aldrich siRNA for TP63  
                         Sigma-Aldrich shRNA Panels and shRNA for TP63  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_001114978  NM_001114979  NM_001114980  NM_001114981  NM_001114982  NM_003722  

    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   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_001114978  NM_001114979  NM_001114980  NM_001114981  NM_001114982  NM_003722  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 6): NM_001114978
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 6): NM_001114978
                                     untagged cDNA clones in CMV expression vector (see all 8): NM_001114978 

    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 Y16961.1 

    10 DOTS entries:

    DT.113716  DT.95374522  DT.75166481  DT.95374523  DT.100767943  DT.100767944  DT.100767942  DT.91857800 
    DT.100769705  DT.95374521 

    24/132 AceView cDNA sequences (see all 132 ):

    AB016072 AF075432 BG676240 NM_003722 BF436149 BX447464 BC039815 AF075430 
    AA025687 AF075431 AF116771 BX103828 BQ045216 AF075428 BX504901 AB042841 
    W76490 AW292021 AI122593 AI377044 AL698769 AI127157 AF075433 BM083305 

    Unigene Cluster for TP63:

    Tumor protein p63
    Hs.137569  [show with all ESTs]
    Unigene Representative Sequence: BC039815


    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for TP63 (see all 9 )

    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:                          -     -     -     -           -                                         -                                                         

    About this scheme

    ECgene alternative splicing isoforms for TP63

    7 Ensembl transcripts including schematic representations:
    ENST00000392463  ENST00000264731  ENST00000382063  ENST00000320472  ENST00000354600  ENST00000392461  
    ENST00000392460  

    Expression
    for TP63

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    TP63 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for TP63

    1 / 2

    14 probe-sets matching TP63 gene


    		Affymetrix
    probe-set    		 Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    31791_at2 U95-A 1 1.00 1.00 1.00 1.00 -- -- -- -- --

    		211195_s_at2 U133-A 1 1.00 1.00 -- -- -- -- -- -- --

    		211194_s_at2 U133-A 1 1.00 1.00 -- -- -- -- -- -- --

    		209863_s_at2 U133-A 1 1.00 1.00 -- -- -- -- -- -- --

    		211834_s_at2 U133-A 1 1.00 1.00 -- -- -- -- -- -- --

    		207382_at2 U133-A 1 1.00 1.00 -- -- -- -- -- -- --

    		211193_at*2 U133-A 2 1.00 0.50 -- -- -- -- -- -- --

    		211195_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    		1555581_a_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    		211194_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    		209863_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    		211834_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    		207382_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    		211193_at*2 U133Plus2 2 1.00 0.50 -- -- -- -- -- -- --
    GeneDecks  TP63 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: CAATAAAATT

    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

    Orthologs
    for TP63

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section
    Orthologs for TP63 gene from 5/8 species (see all 8 )
    Organism Gene Locus Description Human
    Similarity    		 NCBI accessions
    dog
    (Canis familiaris)    		 TP631   -- tumor protein p63 92.94(n)
    98.09(a)    		 488125  XM_845322.1  XP_850415.1 
    chimpanzee
    (Pan troglodytes)    		 TP631   -- tumor protein p63 99.71(n)
    100(a)    		 460930  XM_001160376.1  XP_001160376.1 
    rat
    (Rattus norvegicus)    		 Tp73l1   -- tumor protein p73-like 91.03(n)
    97.79(a)    		 246334  NM_019221.1  NP_062094.1 
    mouse
    (Mus musculus)    		 Trp631, 5 16 (19.30 cM)5
    		 transformation related protein 631, 5 91.08(n)1
    98.43(a)1    		 220611  NM_011641.11  NP_035771.11 
     AB0101525  AF0754345  (see all 21)
    chicken
    (Gallus gallus)    		 TP631   -- tumor protein p63 84.8(n)
    96.48(a)    		 374269  NM_204351.1  NP_989682.1 
    About this table        Species with no ortholog for TP63

    ENSEMBL Gene Tree for TP63

    Paralogs
    for TP63

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for TP63 gene
    TP732  TP532  

    SNPs/Variants
    for TP63

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/1608 NCBI SNPs in TP63 are shown (see all 1608 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 628)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 3 posSequenceRecsAA
    Chg    		TypeMoreRecsAllele
    freq    		PopTotal
    sample    		More
    ------------
    rs76313581,2
    		A,C,F,H190831105(+) CTTCAG/AAATAT 1 -- ng518Minor allele frequency- A:0.27EA NA EU WA 636
    rs64444061,2
    		A,C,F,H191095623(+) TAAGAC/GTGTAG 4 -- ut318Minor allele frequency- G:0.03EU EA WA 830
    rs117087531,2
    		C,F,H191097825(+) TGTTGA/TTATTA 1 -- ng318Minor allele frequency- T:0.15EU EA WA 838
    rs126311181,2
    		C,F,H191098032(+) TTAGAA/TCAGGG 1 -- ng314Minor allele frequency- T:0.01EU EA WA 420
    rs76458301,2
    		C,F,H191081596(+) CTATCC/TCTCAA 3 -- ut31 int1 ese39Minor allele frequency- T:0.02MN CSAM EA EU WA 820
    rs15154861,2
    		C,H191097868(+) GAGAGG/TTTCAG 1 -- ng315Minor allele frequency- T:0.00MN EU EA WA 604
    --
    rs113964601,2
    		C,F191081665(+) ACTTA-/ACGTTT 3 -- int1 ut315Minor allele frequency- A:0.14MN CSAM EA 404
    --
    rs117087461,2
    		C,F191097774(+) TGTCTA/GTCTGT 1 -- ng315Minor allele frequency- G:0.03MN CSAM EA 372
    rs356945111,2
    		F191097610(+) ATTATA/TCATGT 4 -- ut315Minor allele frequency- T:0.01MN CSAM EA 364
    --
    rs109373971,2
    		C190829924(+) ttaaaA/GACACA 1 -- ng510--------
    About this table

    HapMap Linkage Disequilibrium images for TP63 (up to first 250kb)

    Disorders & Mutations
    for TP63

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    		 OMIM: 603273   disorders: 604292  605289  106260  103285  603543  129400  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 filiforme 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 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
  • 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

    • 10/97 Novoseek disease relationships for TP63 gene (see all 97 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    aec syndrome 92.44 23 12766194 (2), 11159940 (2), 16365259 (2), 12692135 (1) (see all 15)
    rapp-hodgkin syndrome 91.08 9 15725251 (2), 12939657 (2), 12766194 (1), 15748593 (1) (see all 6)
    shfm4 90.20 6 16688749 (1), 16724007 (1), 18515319 (1), 16691619 (1) (see all 5)
    ectrodactyly 88.70 27 14656652 (4), 11462173 (2), 15736220 (2), 11903230 (2) (see all 17)
    ectodermal dysplasia 87.68 44 11903230 (3), 18633439 (2), 12766194 (2), 18603493 (2) (see all 30)
    ankyloblepharon 87.38 10 16365259 (2), 16177572 (1), 18364388 (1), 12932250 (1) (see all 8)
    limb-mammary syndrome 86.88 5 11462173 (2), 14656652 (1), 11929852 (1), 17164413 (1)
    adult syndrome 82.70 19 11528512 (3), 16724007 (3), 11929852 (2), 17041931 (2) (see all 10)
    malformation foot 78.11 8 11462173 (2), 14656652 (1), 11595015 (1), 17224651 (1) (see all 5)
    limb malformation 73.58 3 16724007 (1), 17609671 (1), 17041931 (1)
    About this table

    Human Gene Mutation Database: TP63
    Human Genome Epidemiology Navigator: TP63 (4 documents)

    Medical News
    for TP63

    (Possibly Related Articles in Doctor's Guide)
    About This Section

    		   --

    Publications
    for TP63

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    		10/739 PubMed articles for TP63 gene (see all 739 ):

    Search for TP63

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing TP63

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section
    Entrez Gene: 8626 HGNC: 15979 AceView: TP73L Ensembl:ENSG00000073282 euGenes: HUgn8626
    ECgene: TP63 H-InvDB: TP63

    Other Databases showing TP63

    (According to HUGE)
    About This Section

    		   --

    Specialized Databases showing TP63

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    GeneReviewshttp://www.genetests.org/query?gene=TP63

    Licensable Technologies
    for TP63

    (Available from WIS Yeda, Salk, Tufts)
    About This Section

    		  --

    Services
    for TP63

    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for TP63:
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