TP53 tumor protein p53
Gene ID: 7157, updated on 2-Nov-2024Gene type: protein coding
Also known as: P53; BCC7; LFS1; BMFS5; TRP53
- See all available tests in GTR for this gene
- Go to complete Gene record for TP53
- Go to Variation Viewer for TP53 variants
Summary
This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277). [provided by RefSeq, Dec 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation. GeneReviews: Not available | |
| A germline variant in the TP53 polyadenylation signal confers cancer susceptibility. GeneReviews: Not available | |
| Adrenocortical carcinoma, hereditary | not available |
| Basal cell carcinoma, susceptibility to, 7 | not available |
| Bone marrow failure syndrome 5 | not available |
| Bone osteosarcoma | not available |
| Carcinoma of pancreas MedGen: C0235974GeneReviews: Not available | not available |
| Choroid plexus papilloma | not available |
| Colorectal cancer | not available |
| Familial cancer of breast MedGen: C0346153OMIM: 114480GeneReviews: BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer | not available |
| Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma. GeneReviews: Not available | |
| Glioma susceptibility 1 | not available |
| Hepatocellular carcinoma | not available |
| Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations. GeneReviews: Not available | |
| Li-Fraumeni syndrome MedGen: C0085390GeneReviews: Li-Fraumeni Syndrome | not available |
| Li-Fraumeni syndrome 1 | not available |
| Nasopharyngeal carcinoma | not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2021-11-10) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2021-11-10) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 17p13.1
- Sequence:
- Chromosome: 17; NC_000017.11 (7668421..7687490, complement)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TP53 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- Database of Germline p53 Mutations
- dbVarLink from Gene to dbVar
- IARC TP53 Mutation Database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- p53 Mutations and Cancer
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- TP53 @ LOVD
- Variation ViewerRelated Variants
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