Tumor Protein p63

Alternative Names

  • TP63
  • Tumor Protein p73-Like
  • TP73L
  • p53-Related Protein p63
  • p63
  • KET
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OMIM Number

603273

NCBI Gene ID

8626

Uniprot ID

Q9H3D4

Length

330,419 bases

No. of Exons

17

No. of isoforms

12

Protein Name

Tumor Protein 63

Molecular Mass

76785 Da

Amino Acid Count

680

Genomic Location

chr3:189,566,861-189,897,279

Gene Map Locus
3q28

Description

TP63 gene encodes for a protein of 680 amino acids called tumor protein p63, which is a member of the p53 family. This protein is a sequence-specific DNA binding transcriptional activator or repressor that is essential in the development and maintenance of stratified epithelial tissues. p63 is important in the development of the limbs, facial features, urinary system, and other organs and tissues. It is expressed notably in the heart, kidney, placenta, prostate, skeletal muscle, testis and thymus, although the precise isoform varies according to tissue type.

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_003722.4:c.1748A>TLebanonNC_000003.12:g.189894207A>TUncertain SignificancePathogenicEctrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3NG_007550.1:g.267781A>T; NM_003722.4:c.1748A>T; NP_003713.3:p.Asp583Val1577213305665978
NM_003722.5:c.1766T>AOmanchr3:189894225PathogenicEctrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3NG_007550.1:g.267799T>A; NM_003722.5:c.1766T>A; NP_003713.3:p.Ile589Asn
NM_003722.5:c.739C>TSaudi ArabiaNC_000003.12:g.189864391C>TLikely Pathogenic, PathogenicPathogenicEctrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3NG_007550.1:g.237965C>T; NM_003722.5:c.739C>T; NP_003713.3:p.His247Tyr1553856553478110
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