Basic Information

Symbol
TP63
RNA class
mRNA
Alias
Tumor Protein P63 P73L P63 P73H P51 KET P40 SHFM4 P53CP TP73L EEC3 OFC8 NBP Chronic Ulcerative Stomatitis Protein Keratinocyte Transcription Factor KET Tumor Protein P53-Competing Protein Transformation-Related Protein 63 Tumor Protein P73-Like Tumor Protein 63 TP53CP TP53L Amplified In Squamous Cell Carcinoma Tumor Protein P53-Like B(P51A) B(P51B) CUSP AIS LMS RHS
Location (GRCh38)
3:189631389-189897276
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
-
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_003722.5
Sequence length
4944.0 nt
GC content
0.4244

Transcripts

ID Sequence Length GC content
NM_001329150.2 NCBI
CAGAGAGAGAAAGAGAGAGAGGGACUUGAGUUCUGUUAUCUUCUUAAGU… 4171 nt 0.4042
NM_001329964.2 NCBI
GGCAACCCGCUGGGGUCACCUUCCACACUGUGGAAGCUUUGUUCUUUUG… 5248 nt 0.4346
NM_003722.5 NCBI
CUAUGUCUGAUAGCAUUUGACCCUAUUGCUUUUAGCCUCCCGGCUUUAU… 4944 nt 0.4244
Showing 11 to 13 of 13 entries
Summary

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]

Forensic Context

No relevant information is available at the moment.