Multifunctional transcription factor that induces cell cycle arrest, DNA repair or apoptosis upon binding to its target DNA sequence (PubMed:11025664, PubMed:12524540, PubMed:12810724, PubMed:15186775, PubMed:15340061, PubMed:17317671, PubMed:17349958, PubMed:19556538, PubMed:20673990, PubMed:20959462, PubMed:22726440, PubMed:24051492, PubMed:24652652, PubMed:35618207, PubMed:36634798, PubMed:38653238, PubMed:9840937). Acts as a tumor suppressor in many tumor types; induces growth arrest or apoptosis depending on the physiological circumstances and cell type (PubMed:11025664, PubMed:12524540, PubMed:12810724, PubMed:15186775, PubMed:15340061, PubMed:17189187, PubMed:17317671, PubMed:17349958, PubMed:19556538, PubMed:20673990, PubMed:20959462, PubMed:22726440, PubMed:24051492, PubMed:24652652, PubMed:38653238, PubMed:9840937). Negatively regulates cell division by controlling expression of a set of genes required for this process (PubMed:11025664, PubMed:12524540, PubMed:12810724, PubMed:15186775, PubMed:15340061, PubMed:17317671, PubMed:17349958, PubMed:19556538, PubMed:20673990, PubMed:20959462, PubMed:22726440, PubMed:24051492, PubMed:24652652, PubMed:9840937). One of the activated genes is an inhibitor of cyclin-dependent kinases. Apoptosis induction seems to be mediated either by stimulation of BAX and FAS antigen expression, or by repression of Bcl-2 expression (PubMed:12524540, PubMed:17189187). Its pro-apoptotic activity is activated via its interaction with PPP1R13B/ASPP1 or TP53BP2/ASPP2 (PubMed:12524540). However, this activity is inhibited when the interaction with PPP1R13B/ASPP1 or TP53BP2/ASPP2 is displaced by PPP1R13L/iASPP (PubMed:12524540). In cooperation with mitochondrial PPIF is involved in activating oxidative stress-induced necrosis; the function is largely independent of transcription. Induces the transcription of long intergenic non-coding RNA p21 (lincRNA-p21) and lincRNA-Mkln1. LincRNA-p21 participates in TP53-dependent transcriptional repression leading to apoptosis and seems to have an effect on cell-cycle regulation. Implicated in Notch signaling cross-over. Prevents CDK7 kinase activity when associated to CAK complex in response to DNA damage, thus stopping cell cycle progression. Isoform 2 enhances the transactivation activity of isoform 1 from some but not all TP53-inducible promoters. Isoform 4 suppresses transactivation activity and impairs growth suppression mediated by isoform 1. Isoform 7 inhibits isoform 1-mediated apoptosis. Regulates the circadian clock by repressing CLOCK-BMAL1-mediated transcriptional activation of PER2 (PubMed:24051492). {ECO:0000269|PubMed:11025664, ECO:0000269|PubMed:12524540, ECO:0000269|PubMed:12810724, ECO:0000269|PubMed:15186775, ECO:0000269|PubMed:15340061, ECO:0000269|PubMed:17189187, ECO:0000269|PubMed:17317671, ECO:0000269|PubMed:17349958, ECO:0000269|PubMed:19556538, ECO:0000269|PubMed:20673990, ECO:0000269|PubMed:20959462, ECO:0000269|PubMed:22726440, ECO:0000269|PubMed:24051492, ECO:0000269|PubMed:24652652, ECO:0000269|PubMed:35618207, ECO:0000269|PubMed:36634798, ECO:0000269|PubMed:38653238, ECO:0000269|PubMed:9840937}.
Chromosome
17
Biotype
protein_coding
Diseases
25
Variants
50
Also Known As
25 disease associations found
| Disease | Score | Therapeutic Areas |
|---|---|---|
| Li-Fraumeni syndrome | 0.88 | nervous system disordergenetic, familial or congenital diseasecancer or benign tumor |
| hepatocellular carcinoma | 0.80 | hepatobiliary disorderendocrine system disordergastrointestinal diseasecancer or benign tumor |
| head and neck squamous cell carcinoma | 0.78 | cancer or benign tumor |
| choroid plexus papilloma | 0.77 | nervous system disordergenetic, familial or congenital diseasecardiovascular disordercancer or benign tumor |
| colorectal cancer | 0.75 | gastrointestinal diseasecancer or benign tumor |
| basal cell carcinoma, susceptibility to, 7 | 0.74 | genetic, familial or congenital diseasecancer or benign tumor |
| hereditary breast carcinoma | 0.74 | genetic, familial or congenital diseasereproductive system or breast diseasecancer or benign tumor |
| Hereditary breast cancer | 0.74 | genetic, familial or congenital diseasereproductive system or breast diseasecancer or benign tumor |
| esophageal cancer | 0.73 | gastrointestinal diseasecancer or benign tumor |
| lung adenocarcinoma | 0.73 | cancer or benign tumorrespiratory or thoracic disease |
| adrenal cortex carcinoma | 0.72 | cardiovascular disorderendocrine system disordercancer or benign tumorurinary system disorder |
| acute myeloid leukemia | 0.72 | hematologic disorderimmune system disordercancer or benign tumormusculoskeletal or connective tissue disease |
| choroid plexus carcinoma | 0.72 | nervous system disordercardiovascular disordercancer or benign tumor |
| adrenocortical carcinoma, hereditary | 0.71 | genetic, familial or congenital diseaseurinary system disordercardiovascular disorderendocrine system disordercancer or benign tumor |
| bone osteosarcoma | 0.71 | musculoskeletal or connective tissue diseasecancer or benign tumor |
9 drugs targeting this gene
Tumour suppressor p53/oncoprotein Mdm2 inhibitor
Tumour suppressor p53/oncoprotein Mdm2 inhibitor
Cellular tumor antigen p53 stabiliser
Cellular tumor antigen p53 exogenous gene
Tumour suppressor p53/oncoprotein Mdm2 inhibitor
p53 mRNA antisense inhibitor
p53 mRNA antisense inhibitor
Tumour suppressor p53/oncoprotein Mdm2 inhibitor
50 variants reported
| Variant | Significance | Review | Conditions |
|---|---|---|---|
| GRCh38/hg38 17p13.3-11.2(chr17:1-16490399)x3 | Pathogenic | chr17p13.3p11.2 duplication | |
| NC_000017.11:g.(?_6179641)_(7918367_?)dup | Pathogenic | See cases | |
| GRCh38/hg38 17p13.1(chr17:7674702-7677679)x1 | Likely pathogenic | Lung cancer | |
| NM_000546.6(TP53):c.640del (p.His214fs) | Likely pathogenic | not provided | |
| NM_000546.6(TP53):c.708dup (p.Met237fs) | Likely pathogenic | Li-Fraumeni syndrome | |
| NM_000546.6(TP53):c.993+217G>C | Uncertain significance | Li-Fraumeni syndrome | |
| NM_000546.6(TP53):c.810T>G (p.Phe270Leu) | Likely pathogenic | Hereditary breast ovarian cancer syndrome | |
| NM_000546.6(TP53):c.1035T>C (p.Asn345=) | Likely benign | Hereditary cancer-predisposing syndrome | |
| NM_000546.6(TP53):c.-28-2A>G | Uncertain significance | Hereditary cancer-predisposing syndromenot provided | |
| NM_000546.6(TP53):c.244C>A (p.Pro82Thr) | Likely benign | Hereditary cancer-predisposing syndrome | |
| NM_000546.6(TP53):c.574_582del (p.Gln192_Leu194del) | Likely pathogenic | Hereditary cancer-predisposing syndrome | |
| NM_000546.6(TP53):c.749C>G (p.Pro250Arg) | Uncertain significance | Hereditary cancer-predisposing syndrome | |
| NM_000546.6(TP53):c.1018A>T (p.Met340Leu) | Likely benign | Hereditary cancer-predisposing syndrome | |
| NM_000546.6(TP53):c.876_877del (p.Glu294fs) | Pathogenic | Hereditary cancer-predisposing syndrome | |
| NM_000546.6(TP53):c.930del (p.Asn310fs) | Pathogenic | Hereditary cancer-predisposing syndrome | |
| NM_000546.6(TP53):c.744G>C (p.Arg248=) | Likely benign | Hereditary cancer-predisposing syndrome | |
| NM_000546.6(TP53):c.564_573del (p.Ala189fs) | Pathogenic | Hereditary cancer-predisposing syndrome | |
| NM_000546.6(TP53):c.560-9_598dup | Uncertain significance | Hereditary cancer-predisposing syndrome | |
| NM_000546.6(TP53):c.486_489del (p.Tyr163fs) | Pathogenic | Hereditary cancer-predisposing syndrome | |
| NM_000546.6(TP53):c.1018A>G (p.Met340Val) | Likely benign | Hereditary cancer-predisposing syndrome |
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