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TP53 tumor protein p53

Gene ID: 7157, updated on 26-Mar-2023
Gene type: protein coding
Also known as: P53; BCC7; LFS1; BMFS5; TRP53

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

DescriptionTests
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
MedGen: C1859972OMIM: 202300GeneReviews: Not available
See labs
Basal cell carcinoma, susceptibility to, 7
MedGen: C3553606OMIM: 614740GeneReviews: Not available
See labs
Bone marrow failure syndrome 5
MedGen: C4748488OMIM: 618165GeneReviews: Not available
See labs
Bone osteosarcoma
MedGen: C0585442OMIM: 259500GeneReviews: Not available
See labs
Carcinoma of pancreas
MedGen: C0235974OMIM: 260350GeneReviews: Not available
See labs
Choroid plexus papilloma
MedGen: C0205770OMIM: 260500GeneReviews: Not available
See labs
Colorectal cancer
MedGen: C0346629OMIM: 114500GeneReviews: Lynch Syndrome
See labs
Familial cancer of breastSee labs
Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.
GeneReviews: Not available
Glioma susceptibility 1
MedGen: C2750850OMIM: 137800GeneReviews: Not available
See labs
Hepatocellular carcinoma
MedGen: C2239176OMIM: 114550GeneReviews: Not available
See labs
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
See labs
Li-Fraumeni syndrome 1See labs
Nasopharyngeal carcinoma
MedGen: C2931822OMIM: 607107GeneReviews: Not available
See labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2021-11-10)

ClinGen Genome Curation Page
Haploinsufficency

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

Links

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