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Aliases for TP63 Gene

Aliases for TP63 Gene

  • Tumor Protein P63 2 3 5
  • 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
  • TP73L 3 4
  • P73H 3 4
  • CUSP 3 4
  • P73L 3 4
  • P40 3 4
  • P63 3 4
  • KET 3 4
  • P51 3 4
  • Tumor Protein P63 DeltaN Isoform Delta 3
  • Amplified In Squamous Cell Carcinoma 3
  • Tumor Protein P53-Like 2
  • B(P51A) 3
  • B(P51B) 3
  • TP53CP 3
  • SHFM4 3
  • P53CP 3
  • TP53L 3
  • EEC3 3
  • OFC8 3
  • AIS 3
  • NBP 3
  • LMS 3
  • RHS 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
  • GC03P189631

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 adult syndrome and limb-mammary syndrome. Among its related pathways are Gene Expression and MicroRNAs in cancer. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding 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

Chromosome:
3
Start:
189,566,861 bp from pter
End:
189,897,279 bp from pter
Size:
330,419 bases
Orientation:
Plus strand

Genomic View for TP63 Gene

Genes around TP63 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TP63 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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;
    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 & Families for TP63 Gene

Suggested Antigen Peptide Sequences for TP63 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H3D4

UniProtKB/Swiss-Prot:

P63_HUMAN :
  • The transactivation inhibitory domain (TID) can interact with, and inhibit the activity of the N-terminal transcriptional activation domain of TA*-type isoforms.
  • Belongs to the p53 family.
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:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with TP63: view
genes like me logo Genes that share phenotypes with TP63: view

Human Phenotype Ontology for TP63 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TP63 Gene

MGI Knock Outs for TP63:
Targeted motifs for TP63 Gene
HOMER Transcription Factor Regulatory Elements motif TP63
  • Consensus sequence: NNNGCATGTCCNGACATGCC Submotif: canonical Cell Type: Keratinocyte GEO ID: GSE17611

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targets 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
cytosol 4
endoplasmic reticulum 2
extracellular 2
cytoskeleton 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for TP63 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IBA --
GO:0030425 dendrite IBA --
genes like me logo Genes that share ontologies with TP63: view

Pathways & Interactions for TP63 Gene

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

Pathways by source for TP63 Gene

SIGNOR curated interactions for TP63 Gene

Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for TP63 Gene

GO ID Qualified GO term Evidence PubMed IDs
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 IEA --
GO:0001942 hair follicle development IEA --
genes like me logo Genes that share ontologies with TP63: view

Drugs & Compounds for TP63 Gene

(14) Drugs for TP63 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(13) Additional Compounds for TP63 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

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) (x12.2), Skin - Sun Exposed (Lower leg) (x10.3), Esophagus - Mucosa (x8.0), and Vagina (x5.6).

Protein differential expression in normal tissues from HIPED for TP63 Gene

This gene is overexpressed in Esophagus (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with TP63: view

Protein tissue co-expression partners for TP63 Gene

Primer Products

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
VAR_020866 Neck cancer
VAR_020867 Lung carcinoma
VAR_020868 Cervical cancer
VAR_020869 Split-hand/foot malformation 4 (SHFM4)
VAR_020870 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)

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

Variation tolerance for TP63 Gene

Residual Variation Intolerance Score: 3.48% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.52; 29.52% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TP63 Gene

HapMap Linkage Disequilibrium report
TP63
Human Gene Mutation Database (HGMD)
TP63

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

Disorders for TP63 Gene

MalaCards: The human disease database

(67) MalaCards diseases for TP63 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
adult syndrome
  • acro-dermato-ungual-lacrimal-tooth syndrome
limb-mammary syndrome
  • lms
split-hand/foot malformation 4
  • split-hand/foot malformation, type 4
rapp-hodgkin syndrome
  • orofacial cleft 8
hay-wells syndrome
  • aec syndrome
- elite association - COSMIC cancer census association via MalaCards
Search TP63 in MalaCards View complete list of genes associated with diseases

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.
  • 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.
  • 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.
  • 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.
  • 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.
  • Note=Defects in TP63 are a cause of cervical, colon, head and neck, lung and ovarian cancers.
  • 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.

Relevant External Links for TP63

Genetic Association Database (GAD)
TP63
Human Genome Epidemiology (HuGE) Navigator
TP63
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. p63, a p53 homolog at 3q27-29, encodes multiple products with transactivating, death-inducing, and dominant-negative activities. (PMID: 9774969) Yang A. … McKeon F. (Mol. Cell 1998) 2 3 4 67
  2. TAp63 is a transcriptional target of NF-kappaB. (PMID: 20052674) Wu J. … Xiao Z.X. (J. Cell. Biochem. 2010) 3 23
  3. p63 antagonizes Wnt-induced transcription. (PMID: 20107313) Drewelus I. … Dobbelstein M. (Cell Cycle 2010) 3 23
  4. RNPC1, an RNA-binding protein and a target of the p53 family, regulates p63 expression through mRNA stability. (PMID: 20457941) Zhang J. … Chen X. (Proc. Natl. Acad. Sci. U.S.A. 2010) 3 23
  5. Comprehensive mutational analysis and mRNA isoform quantification of TP63 in normal and neoplastic human prostate cells. (PMID: 19142959) Parsons J.K. … De Marzo A.M. (Prostate 2009) 3 23

Products for TP63 Gene

Sources for TP63 Gene

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