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View Ontology Report


The p53 tumor suppression transcription factor, many times referred to as the 'guardian of the genome' or as the 'cellular gatekeeper', is at the hub of many signaling and regulatory networks. It represents a critical node of cellular homeostasis integrating many cues emerging from exogenous and endogenous stresses and in response promoting, as necessary, cell cycle arrest, apoptosis or senescence, among others. Tp53 is one of the most commonly mutated gene in cancer. Some mutations are nonsense

Pathway Diagram:

Elsevier Inc. Pin1 target genes NFY complex Vdr p53 regulators p53 methylation Mdm4 --+> genome instability Mdm2 --+> genome instability Mdm2 ---- Tp53 Mdm4 Mdm2 Srebf2 ---- Tp53 Tp53 --+> cell migration Pin1 ---- Tp53 Tp53 --+> cell invasion Tp53 Tp53 --+> genome instability Mre11a ---- Tp53 Tp53 ---| ataxia telangiectasia-mutated (ATM) signaling pathway ataxia telangiectasia-mutated (ATM) signaling pathway MRN complex endogenous stress ---> Tp53 exogenous stress ---> Tp53 Tp73 --+> tumor suppression Tp63 --+> tumor suppression tumor suppression Tp73 Tp63 Tp53 ---| Tp73 Tp53 ---| Tp63 Tp73 ---> target genes NFY complex ---- Tp53 Tp53 ---- Tp73 Tp53 ---- Tp63 Tp63 ---> target genes Ets1 Tp53 --+> chemoresistance Ets1 ---- Tp53 Tp53 ---- Vdr Tp53 --+> cell proliferation Mdm2 ---| Tp53 Mdm4 ---- Tp53 p53, Mdm2 acetylation ---> Tp53 p53 methylation ---> Tp53 NO p53, Mdm2 acetylation ---| Mdm2 p53, Mdm2 phosphorylation ---> Mdm2 p53, Mdm2 phosphorylation ---> Tp53 ataxia telangiectasia-mutated (ATM) signaling pathway ---> p53, Mdm2 phosphorylation endogenous stress Mdm4 ---| Tp53 p53 ubiquitination Mdm2 ---- Mdm4 p53, Mdm2 phosphorylation p53, Mdm2 acetylation Srebf2 Breast Neoplasms cell invasion cell migration genome instability genome instability ---> Neoplasms Tp53 --+> cell survival cell survival cell survival ---> Neoplasms cell proliferation chemoresistance chemoresistance ---> Neoplasms cell proliferation ---> Neoplasms Neoplasms Mre11a exogenous stress

Genes in Pathway:

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altered p53 signaling pathway term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ets1 ETS proto-oncogene 1, transcription factor JBrowse link 8 33,756,634 33,879,625 RGD:8663430
G Mdm2 MDM2 proto-oncogene JBrowse link 7 60,719,060 60,743,618 RGD:2316186
G Mdm4 MDM4 regulator of p53 JBrowse link 13 49,786,776 49,828,780 RGD:8663434
G Mre11 MRE11 homolog, double strand break repair nuclease JBrowse link 8 13,304,355 13,350,329 RGD:8663431
G Nfya nuclear transcription factor Y subunit alpha JBrowse link 9 14,551,752 14,577,002 RGD:8663431
G Nfyb nuclear transcription factor Y subunit beta JBrowse link 7 27,081,667 27,097,481 RGD:8663431
G Nfyc nuclear transcription factor Y subunit gamma JBrowse link 5 139,687,442 139,760,154 RGD:8663431
G Pin1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 JBrowse link 8 21,669,236 21,680,615 RGD:8663430
G Srebf2 sterol regulatory element binding transcription factor 2 JBrowse link 7 123,381,082 123,438,605 RGD:8663431
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:2316186
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:8663431
G Tp73 tumor protein p73 JBrowse link 5 171,355,876 171,415,354 RGD:8663431
G Vdr vitamin D receptor JBrowse link 7 139,344,452 139,394,138 RGD:8663430

Pathway Gene Annotations

Disease Annotations Associated with Genes in the altered p53 signaling pathway
Disease TermsGene Symbols
acquired immunodeficiency syndromeVdr
Acute ErythroleukemiaTp53
Acute HepatitisVdr
acute kidney failureTp53
acute myeloid leukemiaMdm2 , Tp53
Addison's diseaseVdr
adenocarcinomaTp53 , Tp63
adenoid cystic carcinomaTp53
adrenal carcinomaTp53
Adrenal Cortex NeoplasmsTp53
Adrenal Gland NeoplasmsTp53
adrenocortical carcinomaTp53
ADULT syndromeTp63
adult T-cell leukemiaTp53 , Tp73
alveolar rhabdomyosarcomaTp73
Alzheimer's diseaseMdm4 , Mre11 , Pin1 , Tp53
amyotrophic lateral sclerosisTp53 , Vdr
Animal Disease ModelsMre11 , Tp53
ankyloblepharon-ectodermal defects-cleft lip/palate syndromeTp63
aortic valve stenosisVdr
Aortic Valve, Calcification ofTp53
Arsenic PoisoningTp53
asthmaPin1 , Vdr
astrocytomaMre11 , Tp53
Ataxia Telangiectasia Like DisorderMre11
Ataxia-Telangiectasia-Like Disorder 1Mre11
atopic dermatitisVdr
atypical teratoid rhabdoid tumorTp53
autism spectrum disorderVdr
autistic disorderMdm4 , Pin1
autoimmune hepatitisVdr
Autosomal Recessive Dyskeratosis CongenitaTp53
autosomal recessive dyskeratosis congenita 3Tp53
autosomal recessive limb-girdle muscular dystrophy type 2BVdr
B-Cell Chronic Lymphocytic LeukemiaTp53 , Vdr
Balkan nephropathyTp53
Barrett's esophagusVdr
basal cell carcinomaTp53 , Vdr
Behcet's diseaseVdr
biliary tract benign neoplasmMdm2
bladder exstrophyTp63
bladder exstrophy-epispadias-cloacal exstrophy complexTp63
bladder urothelial carcinomaTp53
bone development diseaseTp53
Bone Marrow Failure Syndrome 5Tp53
Bone Marrow NeoplasmsTp53
Brain InjuriesMdm2
Brain Injuries, TraumaticTp53
brain ischemiaTp53
Brain NeoplasmsTp53
breast adenocarcinomaTp53
breast cancerMdm2 , Tp53 , Tp73 , Vdr
Breast Cancer, FamilialTp53
breast carcinomaMre11
breast diseaseTp63
breast ductal carcinomaTp73
Breast NeoplasmsMdm2 , Mdm4 , Pin1 , Srebf2 , Tp53 , Tp63 , Tp73 , Vdr
bronchiolo-alveolar adenocarcinomaTp53
Bronchopulmonary DysplasiaTp53 , Vdr
carcinomaTp53 , Tp63
carotid artery diseaseSrebf2 , Tp53
Cecal NeoplasmsTp53
celiac diseaseEts1
Central Nervous System NeoplasmsTp53
cerebral infarctionVdr
cervical adenocarcinomaTp53
cervical cancerTp53
cervical squamous cell carcinomaTp53
cervix carcinomaTp53
cervix uteri carcinoma in situTp63 , Tp73
Charcot-Marie-Tooth disease dominant intermediate CNfyc
CHARGE syndromeTp53
Chemotherapy-Induced Febrile NeutropeniaMdm2 , Tp53
cholangiocarcinomaMdm2 , Tp53
cholesteatoma of middle earTp53
choroid plexus carcinomaTp53
choroid plexus papillomaTp53
Chromosome 17 DeletionTp53
chronic lymphocytic leukemiaTp53
chronic myeloid leukemiaMdm2
chronic obstructive pulmonary diseaseTp53
Chronic PeriodontitisVdr
clear cell adenocarcinomaTp53
clear cell renal cell carcinomaTp53
cleft lipTp63
cleft palateTp63
Cognitive DysfunctionTp53
colon cancerTp53
colon carcinomaTp53
Colonic NeoplasmsMre11 , Tp53
colorectal adenocarcinomaTp53
colorectal cancerTp53
colorectal carcinomaTp53
Colorectal NeoplasmsTp53 , Tp63
combined oxidative phosphorylation deficiency 11Tp53
Common Variable Immunodeficiency 4Srebf2
Congenital Foot DeformitiesTp63
Congenital Hand DeformitiesTp63
Congenital Limb DeformitiesTp63
congestive heart failureTp53
Corneal InjuriesTp63
coronary artery diseaseTp53 , Vdr
coronary restenosisTp53
Craniofacial AbnormalitiesTp53 , Tp63
Crohn's diseaseVdr
cutaneous T cell lymphomaTp53
demyelinating diseaseTp53
diabetes mellitusVdr
Diabetes Mellitus, Experimental Ets1 , Mdm2 , Tp53 , Tp63
Diabetic NephropathiesSrebf2 , Tp53
diabetic retinopathyVdr
Diamond-Blackfan anemiaTp53
diffuse large B-cell lymphomaTp53
dilated cardiomyopathyMdm4 , Tp53
disease of cellular proliferationMdm2 , Tp53 , Vdr
disease of metabolismSrebf2
Disease ProgressionSrebf2 , Tp53
Drug-induced NeutropeniaMdm2 , Tp53
Drug-Related Side Effects and Adverse ReactionsTp53
Ductal CarcinomaTp53
ductal carcinoma in situTp53
DwarfismTp53 , Vdr
dyskeratosis congenitaTp53
ectodermal dysplasiaTp63
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3Tp63
EEC syndromeTp63
end stage renal failureSrebf2
endometrial adenocarcinomaTp53
endometrial cancerMre11 , Tp53
endometrial carcinomaTp53
Endometrial NeoplasmsTp53 , Tp73
Erythema NodosumVdr
esophageal cancerTp53
esophageal carcinomaTp53
Esophageal NeoplasmsTp53
esophagus adenocarcinomaTp53 , Vdr
esophagus squamous cell carcinomaTp53
Experimental Autoimmune EncephalomyelitisVdr
Experimental Liver NeoplasmsTp53
Experimental NeoplasmsTp53 , Tp63
Fabry diseaseVdr
Familial Hypophosphatemic RicketsVdr
fatty liver diseaseVdr
Female InfertilityTp53
Female Urogenital DiseasesTp63
Fetal Growth RetardationMdm2 , Vdr
Funnel ChestTp53
gallbladder carcinomaTp53
Gallbladder NeoplasmsTp53
gastric adenocarcinomaTp53
gastroesophageal reflux diseaseTp63
genetic diseaseTp63 , Vdr
glioblastoma multiformeMdm2 , Mdm4 , Tp53
Glomus Jugulare TumorSrebf2
grade III astrocytomaTp53
Graft vs Host DiseaseTp53
Graves' diseaseTp53 , Vdr
Head and Neck NeoplasmsTp53
head and neck squamous cell carcinomaTp53
hematologic cancerTp53
hepatitis BVdr
Hepatitis C, ChronicVdr
hepatocellular carcinomaMdm2 , Srebf2 , Tp53 , Vdr
Hereditary Adrenocortical CarcinomaTp53
hereditary breast ovarian cancer syndromeMre11 , Tp53
Hereditary Neoplastic SyndromesMre11 , Tp53
human immunodeficiency virus infectious diseaseMdm2 , Vdr
hypertensionPin1 , Tp53 , Vdr
hypertrophic cardiomyopathyTp53
Hypophosphatemic RicketsVdr
InflammationTp73 , Vdr
Insulin ResistanceSrebf2 , Vdr
intermittent claudicationMdm2
Intervertebral Disc DisplacementVdr
Intimal HyperplasiaMdm2
Kaposi's sarcomaTp53
kidney diseaseSrebf2
Knee OsteoarthritisVdr
Lead PoisoningVdr
Leber hereditary optic neuropathyTp53
lepromatous leprosyVdr
Lessel-Kubisch SyndromeMdm2
Li-Fraumeni syndromeTp53
Li-Fraumeni syndrome 1Tp53
Li-Fraumeni syndrome 2Tp53
Li-Fraumeni-Like SyndromeTp53
Limb-Mammary SyndromeTp63
Lip NeoplasmsTp53
lipid storage diseaseSrebf2
liver cancerTp53
liver cirrhosisVdr
liver diseaseMdm2
Liver NeoplasmsTp53
low tension glaucomaTp53
lung adenocarcinomaTp53
lung cancerTp73
Lung NeoplasmsNfya , Tp53 , Tp63 , Tp73
lung non-small cell carcinomaMdm2 , Tp53
lung small cell carcinomaTp53
lung squamous cell carcinomaTp53
Lymphatic MetastasisTp53
male breast cancerVdr
male infertilityMdm2 , Tp53
malignant gliomaTp53
malignant mesotheliomaTp53
Mammary Neoplasms, ExperimentalPin1 , Tp53 , Vdr
marginal zone B-cell lymphomaTp53
Megakaryoblastic Leukemia of Down SyndromeTp53
megakaryocytic leukemiaTp53
melanomaMdm2 , Tp53 , Vdr
mental depressionMre11
Mouth NeoplasmsEts1 , Tp53
Multiple AbnormalitiesTp63
multiple myelomaTp53
multiple sclerosisVdr
muscular dystrophyTp63
myelodysplastic syndromeMdm2 , Tp53
myeloid neoplasmTp53
myocardial infarctionTp53
Myocardial Reperfusion InjuryMdm2 , Tp53 , Vdr
nasal cavity cancerTp53
Nasopharyngeal NeoplasmsTp53
nasopharynx carcinomaTp53
Neoplasm MetastasisSrebf2 , Tp53 , Tp63 , Vdr
Neoplastic Cell TransformationMdm2 , Tp53 , Tp63
nephroblastomaTp53 , Tp73
Nerve Sheath NeoplasmsTp53
nervous system diseaseTp53
Nervous System MalformationsTp73
neuroblastomaTp53 , Tp73
Neurocutaneous SyndromesMre11
Neurodevelopmental DisordersTp73
Neurologic ManifestationsTp73
non-alcoholic fatty liver diseaseVdr
non-Hodgkin lymphomaTp53
obesitySrebf2 , Vdr
Odontogenic MyxomaTp53
Oral Lichen PlanusTp53
oral mucosa leukoplakiaTp53
oral squamous cell carcinomaTp53
oral submucous fibrosisTp53
orofacial cleft 8Tp63
Oropharyngeal NeoplasmsTp53
otitis mediaTp73
ovarian cancerMre11 , Tp53
Ovarian NeoplasmsMre11 , Tp53 , Tp63 , Tp73
ovarian serous cystadenocarcinomaTp53
ovarian small cell carcinomaTp53
ovary serous adenocarcinomaTp53
pancreatic adenocarcinomaTp53
pancreatic cancerTp53 , Tp63
pancreatic carcinomaTp53
pancreatic ductal carcinomaMdm2 , Tp53
pancreatic intraductal papillary-mucinous neoplasmTp53
papillary renal cell carcinomaTp53
paranasal sinus neoplasmTp53
Parasitic Liver DiseasesTp53
Parathyroid NeoplasmsVdr
Parkinson's diseaseVdr
Parkinsonian DisordersMre11
Pediatric Adrenocortical CarcinomaTp53
penile neoplasmTp53
peptic esophagitisVdr
Phyllodes TumorTp53
pleomorphic xanthoastrocytomaTp53
polycystic ovary syndromeVdr
post-traumatic stress disorderMdm2
Postmenopausal OsteoporosisVdr
pre-malignant neoplasmMdm2 , Tp53
precursor B lymphoblastic lymphoma/leukemiaTp53
precursor lymphoblastic lymphoma/leukemiaTp53
Premature AgingMdm2 , Tp53
premature ovarian failureMre11 , Tp63
primary biliary cirrhosisVdr
primary hyperparathyroidismVdr
primary open angle glaucomaTp53
primary sclerosing cholangitisVdr
prostate adenocarcinomaTp53
prostate cancerSrebf2 , Tp53 , Tp63 , Tp73 , Vdr
prostate carcinomaTp53 , Tp73
prostate carcinoma in situTp63
prostatic hypertrophyTp73
Prostatic NeoplasmsMdm2 , Mre11 , Tp53 , Tp63 , Vdr
psoriasisTp53 , Vdr
pulmonary hypertensionTp53
pulmonary tuberculosisVdr
Rapp-Hodgkin syndromeTp63
renal carcinomaTp53
renal cell carcinomaTp53 , Tp73 , Vdr
Reperfusion InjuryEts1 , Tp53
rheumatoid arthritisVdr
SAPHO syndromeMdm2 , Tp53
sarcomaMdm2 , Tp53
schizophreniaEts1 , Tp53 , Tp63
secondary hyperparathyroidismPin1 , Vdr
serous cystadenocarcinomaTp53
Sezary's diseaseTp53
sickle cell anemiaMdm2
Skin AbnormalitiesTp63
skin melanomaTp53 , Vdr
Skin NeoplasmsTp53
small cell carcinomaTp53
Spinal Cord InjuriesMdm2 , Tp53
Spinal FracturesVdr
split hand-foot malformationTp63
split hand-foot malformation 4Tp63
Sporadic Papillary Renal Cell CarcinomaTp53
squamous cell carcinomaTp53 , Tp63 , Vdr
squamous cell neoplasmTp63
stomach cancerTp53
stomach carcinomaMre11
Stomach NeoplasmsSrebf2 , Tp53
sweat gland neoplasmTp63
Systemic Inflammatory Response SyndromeVdr
systemic lupus erythematosusEts1
T-Cell LymphomaTp53
temporal lobe epilepsyVdr
Thymus NeoplasmsTp53
thyroid gland anaplastic carcinomaTp53
Thyroid NeoplasmsTp53
Tongue NeoplasmsTp53
tongue squamous cell carcinomaTp53
transient cerebral ischemiaMdm2
transitional cell carcinomaTp53 , Tp63 , Tp73 , Vdr
Transplant RejectionPin1
Trigeminal Nerve InjuriesTp53
Triple Negative Breast NeoplasmsMre11
triple-receptor negative breast cancerTp73
tuberculoid leprosyVdr
Tumor Predisposition SyndromeMre11 , Tp53
Turner syndromeVdr
type 1 diabetes mellitusEts1 , Srebf2 , Vdr
type 2 diabetes mellitusEts1 , Srebf2 , Vdr
urinary bladder cancerMdm2 , Mre11 , Tp53 , Tp63 , Tp73
Urinary Bladder NeoplasmMre11
Urinary CalculiVdr
Urogenital NeoplasmsTp53
Urologic NeoplasmsTp53 , Tp63
uterine cancerTp53
uterine carcinosarcomaTp53
Uterine Cervical NeoplasmsTp53 , Tp73
vascular dementiaSrebf2 , Tp53
Viral BronchiolitisVdr
visual epilepsySrebf2
Vitamin D DeficiencyVdr
Vitamin D-Dependent Rickets, Type 2AVdr
Vulvar Lichen SclerosusTp53
Vulvar NeoplasmsTp53 , Tp73
Weight GainVdr
xeroderma pigmentosumTp53
Pathway Annotations Associated with Genes in the altered p53 signaling pathway
Pathway TermsGene Symbols
aldosterone signaling pathwayNfyc
altered p53 signaling pathwayEts1 , Mdm2 , Mdm4 , Mre11 , Nfya , Nfyb , Nfyc , Pin1 , Srebf2 , Tp53 , Tp63 , Tp73 , Vdr
amyotrophic lateral sclerosis pathwayTp53
antigen processing and presentation pathwayNfya , Nfyb , Nfyc
apoptotic cell death pathwayTp53
ataxia telangiectasia-mutated (ATM) signaling pathwayMre11
basal cell carcinoma pathwayTp53
cell cycle pathway, mitoticMdm2 , Tp53
ceramide signaling pathwayTp53
chronic myeloid leukemia pathwayMdm2 , Tp53
colorectal cancer pathwayTp53
endocytosis pathwayMdm2
endometrial cancer pathwayTp53
glioma pathwayMdm2 , Tp53
hepatitis C pathwayTp53
homologous recombination pathway of double-strand break repairMre11
Huntington's disease pathwayTp53
hypoxia inducible factor pathwayEts1
interleukin-4 signaling pathwayEts1
measles pathwayTp53 , Tp73
melanoma pathwayMdm2 , Tp53
mitogen activated protein kinase signaling pathwayTp53
neurotrophic factor signaling pathwayTp53 , Tp73
non-homologous end joining pathway of double-strand break repairMre11
non-small cell lung carcinoma pathwayTp53
p53 signaling pathwayMdm2 , Mdm4 , Pin1 , Tp53 , Tp73
p53-dependent G1/S DNA damage checkpoint pathwayTp53
pancreatic cancer pathwayTp53
platelet-derived growth factor signaling pathwayPin1
prostate cancer pathwayMdm2 , Tp53
Ras mediated signaling pathwayTp73
renal cell carcinoma pathwayEts1
Retinoic acid-inducible gene (RIG) I-like receptor signaling pathwayPin1
small cell lung carcinoma pathwayTp53
sterol regulatory element-binding protein signaling pathwaySrebf2
thyroid cancer pathwayTp53
titanium dioxide nanoparticle response pathwayTp53
tuberculosis pathwayNfya , Nfyb , Nfyc , Vdr
ubiquitin/proteasome degradation pathwayMdm2
urinary bladder cancer pathwayMdm2 , Tp53
vinblastine pharmacodynamics pathwayTp53
vincristine pharmacodynamics pathwayTp53
vindesine pharmacodynamics pathwayTp53
vinorelbine pharmacodynamics pathwayTp53
Wnt signaling pathwayTp53
Phenotype Annotations Associated with Genes in the altered p53 signaling pathway

References Associated with the altered p53 signaling pathway:

Ontology Path Diagram:

paths to the root

Import into Pathway Studio:


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.