Gene Gene information from NCBI Gene database.
Entrez ID 7157
Gene name Tumor protein p53
Gene symbol TP53
Synonyms (NCBI Gene)
BCC7BMFS5LFS1P53TRP53
Chromosome 17
Chromosome location 17p13.1
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 arr
SNPs SNP information provided by dbSNP.
510
SNP ID Visualize variation Clinical significance Consequence
rs1042522 G>A,C,T Drug-response, benign, uncertain-significance Coding sequence variant, upstream transcript variant, missense variant, genic upstream transcript variant
rs1800371 G>A,T Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity Coding sequence variant, upstream transcript variant, missense variant, genic upstream transcript variant
rs11540652 C>A,G,T Likely-pathogenic, pathogenic, pathogenic-likely-pathogenic Coding sequence variant, missense variant
rs11540654 C>A,G,T Not-provided, likely-pathogenic, pathogenic, uncertain-significance Coding sequence variant, upstream transcript variant, missense variant, genic upstream transcript variant
rs11575996 C>A,T Likely-pathogenic Coding sequence variant, synonymous variant, missense variant
miRNA miRNA information provided by mirtarbase database.
635
miRTarBase ID miRNA Experiments Reference
MIRT000535 hsa-miR-125b-5p ReviewLuciferase reporter assayWestern blot 20216554
MIRT000535 hsa-miR-125b-5p Review 20006673
MIRT000535 hsa-miR-125b-5p Review 20029422
MIRT000535 hsa-miR-125b-5p In situ hybridizationLuciferase reporter assayqRT-PCRWestern blot 19293287
MIRT000535 hsa-miR-125b-5p In situ hybridizationLuciferase reporter assayqRT-PCRWestern blot 19293287
Transcription factors Transcription factors information provided by TRRUST V2 database.
65
Transcription factor Regulation Reference
AATF Unknown 17157788
ABL1 Activation 11753601
ATF3 Unknown 22991139
BDP1 Unknown 12734418
CREBBP Unknown 15154850
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
300
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 10329733, 15340061
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS 19749791
GO:0000423 Process Mitophagy IEA
GO:0000785 Component Chromatin IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
191170 11998 ENSG00000141510
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P04637
Protein name Cellular tumor antigen p53 (Antigen NY-CO-13) (Phosphoprotein p53) (Tumor suppressor p53)
Protein function 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:17
PDB 1A1U , 1AIE , 1C26 , 1DT7 , 1GZH , 1H26 , 1HS5 , 1JSP , 1KZY , 1MA3 , 1OLG , 1OLH , 1PES , 1PET , 1SAE , 1SAF , 1SAK , 1SAL , 1TSR , 1TUP , 1UOL , 1XQH , 1YC5 , 1YCQ , 1YCR , 1YCS , 2AC0 , 2ADY , 2AHI , 2ATA , 2B3G , 2BIM , 2BIN , 2BIO , 2BIP , 2BIQ , 2F1X , 2FEJ , 2FOJ , 2FOO , 2GS0 , 2H1L , 2H2D , 2H2F , 2H4F , 2H4H , 2H4J , 2H59 , 2J0Z , 2J10 , 2J11
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08563 P53_TAD 6 30 P53 transactivation motif Motif
PF18521 TAD2 35 59 Transactivation domain 2 Domain
PF00870 P53 99 289 P53 DNA-binding domain Domain
PF07710 P53_tetramer 319 358 P53 tetramerisation motif Motif
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Isoforms are expressed in a wide range of normal tissues but in a tissue-dependent manner. Isoform 2 is expressed in most normal tissues but is not detected in brain, lung, prostate, muscle, fetal brain, spinal cord and fet
Sequence
Sequence length 393
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Endocrine resistance
Platinum drug resistance
MAPK signaling pathway
Sphingolipid signaling pathway
Cell cycle
p53 signaling pathway
Mitophagy - animal
PI3K-Akt signaling pathway
Apoptosis
Longevity regulating pathway
Ferroptosis
Cellular senescence
Wnt signaling pathway
Neurotrophin signaling pathway
Thyroid hormone signaling pathway
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Shigellosis
Hepatitis C
Hepatitis B
Measles
Human cytomegalovirus infection
Human papillomavirus infection
Human T-cell leukemia virus 1 infection
Kaposi sarcoma-associated herpesvirus infection
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Pathways in cancer
Transcriptional misregulation in cancer
Viral carcinogenesis
Proteoglycans in cancer
MicroRNAs in cancer
Colorectal cancer
Pancreatic cancer
Endometrial cancer
Glioma
Prostate cancer
Thyroid cancer
Basal cell carcinoma
Melanoma
Bladder cancer
Chronic myeloid leukemia
Small cell lung cancer
Non-small cell lung cancer
Breast cancer
Hepatocellular carcinoma
Gastric cancer
Central carbon metabolism in cancer
Lipid and atherosclerosis
Fluid shear stress and atherosclerosis
  Activation of NOXA and translocation to mitochondria
Activation of PUMA and translocation to mitochondria
Pre-NOTCH Transcription and Translation
Oxidative Stress Induced Senescence
Formation of Senescence-Associated Heterochromatin Foci (SAHF)
Oncogene Induced Senescence
DNA Damage/Telomere Stress Induced Senescence
SUMOylation of transcription factors
Autodegradation of the E3 ubiquitin ligase COP1
TP53 Regulates Metabolic Genes
Ub-specific processing proteases
Ovarian tumor domain proteases
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
Interleukin-4 and Interleukin-13 signaling
TP53 Regulates Transcription of DNA Repair Genes
TP53 Regulates Transcription of Genes Involved in Cytochrome C Release
TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain
TP53 Regulates Transcription of Caspase Activators and Caspases
TP53 Regulates Transcription of Death Receptors and Ligands
TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest
TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain
TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest
Regulation of TP53 Expression
Regulation of TP53 Activity through Phosphorylation
Regulation of TP53 Degradation
Regulation of TP53 Activity through Acetylation
Regulation of TP53 Activity through Association with Co-factors
Regulation of TP53 Activity through Methylation
PI5P Regulates TP53 Acetylation
G2/M DNA damage checkpoint
G2/M Checkpoints
Stabilization of p53
Transcriptional activation of cell cycle inhibitor p21
The role of GTSE1 in G2/M progression after G2 checkpoint
Transcriptional Regulation by VENTX
RUNX3 regulates CDKN1A transcription
Regulation of PTEN gene transcription
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
270
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Acute megakaryoblastic leukemia Pathogenic rs864309495 RCV000202592
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Acute myeloid leukemia Pathogenic; Likely pathogenic rs2151039122, rs55863639, rs1330865474, rs863224451, rs1555526078, rs2543588023, rs2073256828, rs1597369559, rs2151031435, rs2543545959, rs1597362195, rs121912660, rs2151011218, rs765848205, rs876660821
View all (2 more)
RCV002227835
RCV005888478
RCV002509835
RCV003320135
RCV003159585
View all (12 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Adenocarcinoma Pathogenic rs28934575 RCV000148909
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Adenocarcinoma of the large intestine Pathogenic; Likely pathogenic rs121912666, rs11540652, rs11540654, rs121913343 RCV006253805
RCV006253478
RCV006254060
RCV006253737
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANEMIA, DIAMOND-BLACKFAN Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AORTIC VALVE CALCIFICATION Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
5q-syndrome 5q-syndrome BEFREE 19797731, 20733155, 20980806, 21068437, 21943668, 22525275, 22571696, 24074450, 25098371
★☆☆☆☆
Found in Text Mining only
Acoustic Neuroma Acoustic Neuroma BEFREE 16299809, 31049827
★☆☆☆☆
Found in Text Mining only
Acoustic Neuroma Acoustic Neuroma LHGDN 16299809
★☆☆☆☆
Found in Text Mining only
Acquired Hypogammaglobulinemia Common Variable Immunodeficiency BEFREE 28973009
★☆☆☆☆
Found in Text Mining only
Acrocallosal Syndrome Acrocallosal Syndrome BEFREE 31647999
★☆☆☆☆
Found in Text Mining only
ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE Acrofacial Dysostosis BEFREE 29750247
★☆☆☆☆
Found in Text Mining only
Acromegaly Acromegaly BEFREE 25238988, 8100831
★☆☆☆☆
Found in Text Mining only
ACTH-Secreting Pituitary Adenoma Pituitary adenoma BEFREE 10684166, 31037500
★☆☆☆☆
Found in Text Mining only
Actinic keratosis Actinic keratosis BEFREE 10498902, 10594739, 10607352, 10933063, 11801552, 11966728, 13679450, 1430469, 15598753, 15748639, 16369742, 17065198, 17488404, 17870432, 18331779
View all (17 more)
★☆☆☆☆
Found in Text Mining only
Actinic keratosis Actinic keratosis LHGDN 12756585, 17488404, 18331779
★☆☆☆☆
Found in Text Mining only