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Gene : TP63 Homo sapiens

Name  ? tumor protein p63 Cytological Location  3q28
Brief Description  tumor protein p63
description  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]
  • synonyms:
  • uc003fsc.3,
  • tumor protein p53-like,
  • p53CP,
  • SHFM4,
  • TP73L,
  • TP53L,
  • p63,
  • RHS,
  • TP53CP,
  • EEC3,
  • tumor protein p73-like,
  • OFC8,
  • NM_003722,
  • TP63,
  • OTTHUMG00000156313,
  • TP53L,
  • p73H,
  • SHFM4,
  • EEC3,
  • p51,
  • TP53CP,
  • OFC8,
  • B(p51B),
  • KET,
  • p73L,
  • tumor protein p53-competing protein,
  • AIS,
  • p40,
  • B(p51A),
  • p53CP,
  • AB010153,
  • HGNC:15979,
  • KET,
  • LMS,
  • p73L,
  • p63,
  • TP73L,
  • NBP,
  • NBP,
  • p73H,
  • p51
  • identifiers:
  • 8626,
  • ENSG00000073282,
  • TP63

Genome feature

Region: gene ? Length: 300534  
Location: 3:189596746-189897279 Cyto location: 3q28


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SNPs

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Disease

7 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

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Expression

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Other

30 SN Ps

5 Cross References

19 Data Sets

6 Homologues

1 Located Features

90 Rna Seq Results