Free for academic non-profit institutions. Other users need a Commercial license

Aliases for TP63 Gene

Aliases for TP63 Gene

  • Tumor Protein P63 2 3
  • TP73L 3 4 6
  • KET 3 4 6
  • Chronic Ulcerative Stomatitis Protein 3 4
  • Keratinocyte Transcription Factor KET 3 4
  • Tumor Protein P53-Competing Protein 2 3
  • Transformation-Related Protein 63 3 4
  • Tumor Protein P73-Like 2 4
  • SHFM4 3 6
  • P73H 3 4
  • EEC3 3 6
  • OFC8 3 6
  • CUSP 3 4
  • P73L 3 4
  • P40 3 4
  • P63 3 4
  • P51 3 4
  • LMS 3 6
  • RHS 3 6
  • Tumor Protein P63 DeltaN Isoform Delta 3
  • Amplified In Squamous Cell Carcinoma 3
  • Tumor Protein P53-Like 2
  • Tumor Protein 63 3
  • B(P51A) 3
  • B(P51B) 3
  • TP53CP 3
  • P53CP 3
  • TP53L 3
  • AIS 3
  • NBP 3

External Ids for TP63 Gene

Previous HGNC Symbols for TP63 Gene

  • TP73L
  • TP53L
  • TP53CP

Previous GeneCards Identifiers for TP63 Gene

  • GC03P186351
  • GC03P190832
  • GC03P189349
  • GC03P186752

Summaries for TP63 Gene

Entrez Gene Summary for TP63 Gene

  • 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]

GeneCards Summary for TP63 Gene

TP63 (Tumor Protein P63) is a Protein Coding gene. Diseases associated with TP63 include ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 and split-hand/foot malformation 4. Among its related pathways are MicroRNAs in cancer and Cell Cycle / Checkpoint Control. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and identical protein binding. An important paralog of this gene is TP73.

UniProtKB/Swiss-Prot for TP63 Gene

  • 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 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TP63 Gene

Genomics for TP63 Gene

Regulatory Elements for TP63 Gene

Genomic Location for TP63 Gene

Start:
189,631,160 bp from pter
End:
189,897,279 bp from pter
Size:
266,120 bases
Orientation:
Plus strand

Genomic View for TP63 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TP63 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TP63 Gene

Proteins for TP63 Gene

  • Protein details for TP63 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H3D4-P63_HUMAN
    Recommended name:
    Tumor protein 63
    Protein Accession:
    Q9H3D4
    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

    Protein attributes for TP63 Gene

    Size:
    680 amino acids
    Molecular mass:
    76785 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Note=Binds 1 zinc ion per subunit.;
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=AAF43486.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAF43487.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAF43488.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAF43489.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAF61624.1; Type=Frameshift; Positions=26; Evidence={ECO:0000305}; Sequence=BAA32592.1; Type=Frameshift; Positions=26; Evidence={ECO:0000305}; Sequence=BAA32593.1; Type=Frameshift; Positions=26; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TP63 Gene

    Alternative splice isoforms for TP63 Gene

neXtProt entry for TP63 Gene

Proteomics data for TP63 Gene at MOPED

Post-translational modifications for TP63 Gene

  • May be sumoylated.
  • Ubiquitinated. Polyubiquitination involves WWP1 and leads to proteasomal degradation of this protein.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for TP63 (p63)

No data available for DME Specific Peptides for TP63 Gene

Domains for TP63 Gene

Suggested Antigen Peptide Sequences for TP63 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H3D4

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.
  • Contains 1 SAM (sterile alpha motif) domain.
Family:
  • Belongs to the p53 family.
genes like me logo Genes that share domains with TP63: view

No data available for Gene Families for TP63 Gene

Function for TP63 Gene

Molecular function for TP63 Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot 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 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 Ontology (GO) - Molecular Function for TP63 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000989 transcription factor binding transcription factor activity IEA --
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 20123734
genes like me logo Genes that share ontologies with TP63: view
genes like me logo Genes that share phenotypes with TP63: view

Animal Models for TP63 Gene

MGI Knock Outs for TP63:

miRNA for TP63 Gene

Targeting motifs for TP63 Gene
HOMER Transcription Factor Regulatory Elements motif TP63
  • Consensus sequence: NNNGCATGTCCNGACATGCC Submotif: canonical Cell Type: Keratinocyte GeoId: GSE17611

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TP63

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targeting for TP63 Gene

Localization for TP63 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TP63 Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TP63 Gene COMPARTMENTS Subcellular localization image for TP63 gene
Compartment Confidence
nucleus 5
golgi apparatus 4
cytosol 3
cytoskeleton 2
extracellular 2

Gene Ontology (GO) - Cellular Components for TP63 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IBA --
GO:0000790 nuclear chromatin IDA 22521434
GO:0005634 nucleus NAS 9774969
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IBA --
genes like me logo Genes that share ontologies with TP63: view

Pathways for TP63 Gene

genes like me logo Genes that share pathways with TP63: view

Pathways by source for TP63 Gene

2 Cell Signaling Technology pathways for TP63 Gene
3 BioSystems pathways for TP63 Gene
1 KEGG pathway for TP63 Gene
1 GeneGo (Thomson Reuters) pathway for TP63 Gene

PCR Array Products

Gene Ontology (GO) - Biological Process for TP63 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IBA --
GO:0001302 replicative cell aging IEA --
GO:0001501 skeletal system development IEA --
GO:0001736 establishment of planar polarity IEA --
GO:0001738 morphogenesis of a polarized epithelium --
genes like me logo Genes that share ontologies with TP63: view

Compounds for TP63 Gene

(27) Novoseek inferred chemical compound relationships for TP63 Gene

Compound -log(P) Hits PubMed IDs
noxa 55.3 3
dmso 51.2 26
hematoxylin 49.9 5
mucicarmine 43.1 2
estrogen 40 24
genes like me logo Genes that share compounds with TP63: view

Transcripts for TP63 Gene

Unigene Clusters for TP63 Gene

Tumor protein p63:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TP63

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TP63 Gene

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: - - - - - -
SP6: - -
SP7: -
SP8:
SP9:

Relevant External Links for TP63 Gene

GeneLoc Exon Structure for
TP63
ECgene alternative splicing isoforms for
TP63

Expression for TP63 Gene

mRNA expression in normal human tissues for TP63 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TP63 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (12.2), Skin - Sun Exposed (Lower leg) (10.3), Esophagus - Mucosa (8.0), and Vagina (5.6).

Protein differential expression in normal tissues for TP63 Gene

This gene is overexpressed in Esophagus (69.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for TP63 Gene

SOURCE GeneReport for Unigene cluster for TP63 Gene Hs.137569

mRNA Expression by UniProt/SwissProt for TP63 Gene

Q9H3D4-P63_HUMAN
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.
genes like me logo Genes that share expressions with TP63: view

Expression partners for TP63 Gene

In Situ Assay Products

Orthologs for TP63 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TP63 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TP63 35
  • 94.17 (n)
  • 98.68 (a)
TP63 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TP63 35
  • 92.94 (n)
  • 98.09 (a)
TP63 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Trp63 35
  • 91.27 (n)
  • 97.94 (a)
Trp63 16
Trp63 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TP63 35
  • 99.71 (n)
  • 100 (a)
TP63 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tp63 35
  • 91.03 (n)
  • 97.79 (a)
oppossum
(Monodelphis domestica)
Mammalia TP63 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TP63 36
  • 95 (a)
OneToOne
chicken
(Gallus gallus)
Aves TP63 35
  • 84.8 (n)
  • 96.48 (a)
TP63 36
  • 96 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TP63 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tp63 35
  • 76.89 (n)
  • 86.64 (a)
African clawed frog
(Xenopus laevis)
Amphibia tp73l-A 35
zebrafish
(Danio rerio)
Actinopterygii tp63 35
  • 73.6 (n)
  • 79.39 (a)
tp73l 35
tp63 36
  • 74 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 31 (a)
ManyToMany
CSA.2527 36
  • 29 (a)
ManyToMany
Species with no ortholog for TP63:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TP63 Gene

ENSEMBL:
Gene Tree for TP63 (if available)
TreeFam:
Gene Tree for TP63 (if available)

Paralogs for TP63 Gene

Paralogs for TP63 Gene

genes like me logo Genes that share paralogs with TP63: view

Variants for TP63 Gene

Sequence variations from dbSNP and Humsavar for TP63 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs2177 -- 189,643,853(-) ATGAT(A/C)CCAAA intron-variant
rs869546 -- 189,799,308(+) ATTAG(A/G)CAGGG intron-variant
rs873595 -- 189,800,089(-) GTTCC(A/G)CATTT intron-variant
rs880337 -- 189,873,991(-) TCATT(A/T)GCATT intron-variant
rs938425 -- 189,873,670(+) GTTAA(C/G)CTTTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TP63 Gene

Variant ID Type Subtype PubMed ID
nsv508265 CNV Loss 20534489
nsv4167 CNV Loss 18451855
esv32548 CNV Loss 17666407
nsv436370 CNV Deletion 17901297
dgv78n17 CNV Loss 16327808
esv32915 CNV Loss 17666407
esv2591138 CNV Deletion 19546169
nsv10366 CNV Loss 18304495
nsv819295 CNV Loss 19587683
esv28218 CNV Gain+Loss 19812545
esv2305625 CNV Deletion 18987734
esv2726367 CNV Deletion 23290073
esv1003991 CNV Deletion 20482838
esv2678134 CNV Deletion 23128226
nsv442887 CNV CNV 18776908
esv2422067 CNV Deletion 20811451
esv989738 CNV Loss 20482838
dgv844n67 CNV Loss 20364138
esv2479487 CNV Loss 19546169
esv1008360 CNV Loss 20482838
nsv514191 CNV Loss 21397061
nsv437902 CNV Loss 16468122
nsv819418 CNV Loss 19587683
nsv517128 CNV Loss 19592680
nsv10367 CNV Gain 18304495
nsv878092 CNV Loss 21882294
nsv516668 CNV Loss 19592680
nsv527224 CNV Loss 19592680
esv2476340 CNV Deletion 19546169
esv2222823 CNV Deletion 18987734
esv2726368 CNV Deletion 23290073
esv5865 CNV Loss 19470904
esv2465572 CNV Deletion 19546169
esv2289340 CNV Deletion 18987734
esv2656594 CNV Deletion 23128226
esv2726369 CNV Deletion 23290073
nsv878093 CNV Gain 21882294
nsv819655 CNV Gain 19587683

Relevant External Links for TP63 Gene

HapMap Linkage Disequilibrium report
TP63
Human Gene Mutation Database (HGMD)
TP63
Locus Specific Mutation Databases (LSDB)
TP63

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TP63 Gene

Disorders for TP63 Gene

(6) OMIM Diseases for TP63 Gene (603273)

UniProtKB/Swiss-Prot

P63_HUMAN
  • Acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome) [MIM:103285]: A form of ectodermal dysplasia. Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. 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 syndrome differs significantly from EEC3 syndrome by the absence of facial clefting. {ECO:0000269 PubMed:11929852}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) [MIM:106260]: 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. {ECO:0000269 PubMed:11159940}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292]: A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. It is an autosomal dominant syndrome characterized by ectrodactyly of hands and feet, ectodermal dysplasia and facial clefting. {ECO:0000269 PubMed:10535733, ECO:0000269 PubMed:10839977, ECO:0000269 PubMed:11462173, ECO:0000269 PubMed:12838557}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Split-hand/foot malformation 4 (SHFM4) [MIM:605289]: 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. Some patients have been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting. {ECO:0000269 PubMed:10839977, ECO:0000269 PubMed:11462173}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Limb-mammary syndrome (LMS) [MIM:603543]: Characterized by ectrodactyly, cleft palate and mammary-gland abnormalities. {ECO:0000269 PubMed:11462173}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Defects in TP63 are a cause of cervical, colon, head and neck, lung and ovarian cancers.
  • Ectodermal dysplasia, Rapp-Hodgkin type (EDRH) [MIM:129400]: A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. 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. {ECO:0000269 PubMed:12766194, ECO:0000269 PubMed:12939657, ECO:0000269 PubMed:15200513, ECO:0000269 PubMed:16740912}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Non-syndromic orofacial cleft 8 (OFC8) [MIM:129400]: A 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. Note=The disease is caused by mutations affecting the gene represented in this entry.

(5) University of Copenhagen DISEASES for TP63 Gene

(97) Novoseek inferred disease relationships for TP63 Gene

Disease -log(P) Hits PubMed IDs
aec syndrome 93.4 24
rapp-hodgkin syndrome 90.7 9
shfm4 89.3 5
ectrodactyly 88.6 25
ectodermal dysplasia 88.6 44

Relevant External Links for TP63

Genetic Association Database (GAD)
TP63
Human Genome Epidemiology (HuGE) Navigator
TP63
genes like me logo Genes that share disorders with TP63: view

No data available for Genatlas for TP63 Gene

Publications for TP63 Gene

  1. A mutation of the p63 gene in non-syndromic cleft lip. (PMID: 16740912) Leoyklang P. … Shotelersuk V. (J. Med. Genet. 2006) 3 4 23 48
  2. Characterization of an autoantigen associated with chronic ulcerative stomatitis: the CUSP autoantigen is a member of the p53 family. (PMID: 10469295) Lee L.A. … Jablonska S. (J. Invest. Dermatol. 1999) 3 4 23
  3. Mutational analysis of the p63/p73L/p51/p40/CUSP/KET gene in human cancer cell lines using intronic primers. (PMID: 10485447) Hagiwara K. … Harris C.C. (Cancer Res. 1999) 3 4 23
  4. p73 and p63 are homotetramers capable of weak heterotypic interactions with each other but not with p53. (PMID: 10373484) Davison T.S. … Arrowsmith C.H. (J. Biol. Chem. 1999) 3 4 23
  5. Mutation and expression of the p51 gene in human lung cancer. (PMID: 10935472) Tani M. … Yokota J. (Neoplasia 1999) 3 4 23

Products for TP63 Gene

  • Addgene plasmids for TP63

Sources for TP63 Gene

Back to Top

Content