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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
  • P73L 3 4
  • P40 3 4
  • P63 3 4
  • KET 3 4
  • P51 3 4
  • Amplified In Squamous Cell Carcinoma 3
  • Tumor Protein P53-Like 2
  • Tumor Protein 63 3
  • B(P51A) 3
  • B(P51B) 3
  • TP53CP 3
  • SHFM4 3
  • P53CP 3
  • TP53L 3
  • EEC3 3
  • OFC8 3
  • CUSP 4
  • 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. The functional domains of p53 family proteins include an N-terminal transactivation domain, a central DNA-binding domain and an oligomerization domain. Alternative splicing of this gene and the use of alternative promoters results in multiple transcript variants encoding different isoforms that vary in their functional properties. These isoforms function during skin development and maintenance, adult stem/progenitor cell regulation, heart development and premature aging. Some isoforms have been found to protect the germline by eliminating oocytes or testicular germ cells that have suffered DNA damage. 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. [provided by RefSeq, Aug 2016]

GeneCards Summary for TP63 Gene

TP63 (Tumor Protein P63) is a Protein Coding gene. Diseases associated with TP63 include Adult Syndrome and Rapp-Hodgkin Syndrome. Among its related pathways are DNA Damage and Activation of BH3-only proteins. 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

Additional gene information for TP63 Gene

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

Genomics for TP63 Gene

Regulatory Elements for TP63 Gene

Enhancers for TP63 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03H189837 1.7 FANTOM5 Ensembl ENCODE dbSUPER 18.7 +274.0 274043 6 PKNOX1 NFIB NFXL1 BATF FOS ETV6 RUNX3 CREM JUNB CEBPB TP63 CLDN1 MIR944 MTAPP2
GH03H189315 1.4 FANTOM5 ENCODE dbSUPER 7.5 -249.7 -249677 2 PKNOX1 FOXA2 NFIB SIN3A FOS RCOR1 SMARCC1 ELF1 ZNF217 STAT3 TPRG1 TP63 TPRG1-AS2 LOC105374270
GH03H189307 1 FANTOM5 dbSUPER 10.3 -258.7 -258692 0 ZBED1 JUNB BATF RELA POLR2A IKZF1 RUNX3 CREM SPI1 TP63 TPRG1-AS2 LOC105374270
GH03H189323 1.6 Ensembl ENCODE dbSUPER 5.8 -242.1 -242105 2 PKNOX1 FOXA2 MLX FEZF1 ZNF2 FOS SP5 JUNB ZNF662 ZNF592 TPRG1 TP63 TPRG1-AS2 LOC105374270
GH03H189394 0.8 FANTOM5 7.7 -172.2 -172213 0 CHD4 BMI1 BATF RELA EED ATF7 ETV6 RUNX3 IKZF2 CREM TP63 LOC105374270 TPRG1-AS2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TP63 on UCSC Golden Path with GeneCards custom track

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

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

No data available for DME Specific Peptides for TP63 Gene

Domains & Families for TP63 Gene

Gene Families for TP63 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Transcription factors

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.
Family:
  • Belongs to the p53 family.
genes like me logo Genes that share domains with TP63: view

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.

Phenotypes From GWAS Catalog for TP63 Gene

Gene Ontology (GO) - Molecular Function for TP63 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000989 transcription factor activity, transcription factor binding IEA --
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA --
GO:0002039 p53 binding IPI 25417702
GO:0003677 DNA binding NAS 9662346
GO:0003682 chromatin binding IBA --
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:

Animal Model Products

CRISPR Products

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

Clone Products

  • Addgene plasmids for TP63
  • Applied Biological Materials Clones for TP63
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TP63 gene
Compartment Confidence
nucleus 5
cytosol 5
golgi apparatus 4
extracellular 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (4)
  • Cytosol (1)
  • Golgi apparatus (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TP63 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IDA 22521434
GO:0005634 nucleus NAS 9774969
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IBA --
GO:0005737 cytoplasm IDA 10657951
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: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 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:

CRISPR Products

Clone Products

  • Addgene plasmids for TP63
  • Applied Biological Materials Clones for TP63
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for TP63 Gene

NURSA nuclear receptor signaling pathways regulating expression of TP63 Gene:

TP63

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.

Evidence on tissue expression from TISSUES for TP63 Gene

  • Skin(4.6)
  • Muscle(4.5)
  • Blood(2.1)
  • Lung(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TP63 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • lacrimal apparatus
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • nose
  • outer ear
  • pharynx
  • pituitary gland
  • salivary gland
  • scalp
  • skull
  • tongue
  • tooth
Thorax:
  • breast
  • heart
  • lung
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • large intestine
Pelvis:
  • anus
  • ovary
  • pelvis
  • penis
  • prostate
  • rectum
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • finger
  • foot
  • forearm
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nervous system
  • skin
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with TP63: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia TP63 33 34
  • 99.71 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TP63 34
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TP63 33 34
  • 94.17 (n)
dog
(Canis familiaris)
Mammalia TP63 33 34
  • 92.94 (n)
mouse
(Mus musculus)
Mammalia Trp63 33 16 34
  • 91.27 (n)
rat
(Rattus norvegicus)
Mammalia Tp63 33
  • 91.03 (n)
oppossum
(Monodelphis domestica)
Mammalia TP63 34
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves TP63 33 34
  • 84.8 (n)
lizard
(Anolis carolinensis)
Reptilia TP63 34
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tp63 33
  • 76.89 (n)
African clawed frog
(Xenopus laevis)
Amphibia tp73l-A 33
zebrafish
(Danio rerio)
Actinopterygii tp63 33 34
  • 73.6 (n)
tp73l 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 31 (a)
ManyToMany
CSA.2527 34
  • 29 (a)
ManyToMany
Species where no ortholog for TP63 was found in the sources mined by GeneCards:
  • 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
rs113993967 Pathogenic, Acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome) [MIM:103285] 189,868,597(+) GGGCC(A/G)ACGCT reference, missense
rs121908835 Pathogenic, Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292] 189,864,379(+) TGAAG(C/T)GGTGC reference, missense
rs121908836 Pathogenic, Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292] 189,864,380(+) GAAGC(A/G)GTGCC reference, missense
rs121908837 Pathogenic, Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292] 189,868,620(+) GGATC(C/T)GTGCT reference, missense
rs121908838 Pathogenic, Split-hand/foot malformation 4 (SHFM4) [MIM:605289] 189,864,349(+) ACAAA(A/G)AAGCT reference, missense

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

Variant ID Type Subtype PubMed ID
dgv111e203 CNV loss 21179565
dgv1438e212 CNV loss 25503493
dgv1439e212 CNV loss 25503493
dgv184n111 CNV deletion 26073780
dgv2656n106 CNV deletion 24896259
dgv78n17 CNV loss 16327808
dgv844n67 CNV loss 20364138
dgv8779n54 CNV loss 21841781
dgv8780n54 CNV loss 21841781
dgv8781n54 CNV loss 21841781
dgv8782n54 CNV loss 21841781
dgv8783n54 CNV loss 21841781
esv1003991 CNV deletion 20482838
esv1008360 CNV loss 20482838
esv2222823 CNV deletion 18987734
esv2289340 CNV deletion 18987734
esv2305625 CNV deletion 18987734
esv2422067 CNV deletion 20811451
esv2465572 CNV deletion 19546169
esv2476340 CNV deletion 19546169
esv2479487 CNV loss 19546169
esv2591138 CNV deletion 19546169
esv2656594 CNV deletion 23128226
esv2678134 CNV deletion 23128226
esv2726367 CNV deletion 23290073
esv2726368 CNV deletion 23290073
esv2726369 CNV deletion 23290073
esv28218 CNV gain+loss 19812545
esv32548 CNV loss 17666407
esv32915 CNV loss 17666407
esv3371644 CNV duplication 20981092
esv3563069 CNV deletion 23714750
esv3563071 CNV deletion 23714750
esv3569183 CNV loss 25503493
esv3569185 CNV loss 25503493
esv3569186 CNV loss 25503493
esv3599059 CNV loss 21293372
esv3599060 CNV gain 21293372
esv5865 CNV loss 19470904
esv989738 CNV loss 20482838
nsv1002219 CNV loss 25217958
nsv1013411 CNV loss 25217958
nsv1014449 CNV gain 25217958
nsv10366 CNV loss 18304495
nsv10367 CNV gain 18304495
nsv1073272 CNV deletion 25765185
nsv1074649 CNV deletion 25765185
nsv1125788 CNV tandem duplication 24896259
nsv1150415 CNV deletion 26484159
nsv4167 CNV deletion 18451855
nsv436370 CNV deletion 17901297
nsv437902 CNV loss 16468122
nsv442887 CNV loss 18776908
nsv508265 CNV deletion 20534489
nsv514191 CNV loss 21397061
nsv516668 CNV loss 19592680
nsv517128 CNV loss 19592680
nsv527224 CNV loss 19592680
nsv592764 CNV loss 21841781
nsv592765 CNV loss 21841781
nsv592773 CNV loss 21841781
nsv592784 CNV gain 21841781
nsv819295 CNV loss 19587683
nsv819418 CNV loss 19587683
nsv819655 CNV gain 19587683
nsv955542 CNV deletion 24416366

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

Human Gene Mutation Database (HGMD)
TP63
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TP63

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

Disorders for TP63 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
adult syndrome
  • acro-dermato-ungual-lacrimal-tooth syndrome
rapp-hodgkin syndrome
  • orofacial cleft 8
limb-mammary syndrome
  • lms
split-hand/foot malformation 4
  • split hand-foot malformation 4
hay-wells syndrome
  • ankyloblepharon-ectodermal defects-cleft lip/palate 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. A mutation of the p63 gene in non-syndromic cleft lip. (PMID: 16740912) Leoyklang P … Shotelersuk V (Journal of medical genetics 2006) 3 4 45 60
  2. 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. (PMID: 11336476) Senoo M … Habu S (British journal of cancer 2001) 3 4 22 60
  3. p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. (PMID: 11462173) van Bokhoven H … Brunner HG (American journal of human genetics 2001) 3 4 22 60
  4. p73 and p63 are homotetramers capable of weak heterotypic interactions with each other but not with p53. (PMID: 10373484) Davison TS … Arrowsmith CH (The Journal of biological chemistry 1999) 3 4 22 60
  5. Mutation and expression of the p51 gene in human lung cancer. (PMID: 10935472) Tani M … Yokota J (Neoplasia (New York, N.Y.) 1999) 3 4 22 60

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