ENSG00000141510


Homo sapiens

Features
Gene ID: ENSG00000141510
  
Biological name :TP53
  
Synonyms : P04637 / TP53 / tumor protein p53
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: -1
Band: p13.1
Gene start: 7661779
Gene end: 7687550
  
Corresponding Affymetrix probe sets: 201746_at (Human Genome U133 Plus 2.0 Array)   211300_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000478499
Ensembl peptide - ENSP00000480868
Ensembl peptide - ENSP00000488924
Ensembl peptide - ENSP00000484409
Ensembl peptide - ENSP00000484375
Ensembl peptide - ENSP00000482903
Ensembl peptide - ENSP00000482537
Ensembl peptide - ENSP00000482258
Ensembl peptide - ENSP00000482222
Ensembl peptide - ENSP00000481638
Ensembl peptide - ENSP00000481401
Ensembl peptide - ENSP00000481179
Ensembl peptide - ENSP00000269305
Ensembl peptide - ENSP00000352610
Ensembl peptide - ENSP00000391127
Ensembl peptide - ENSP00000391478
Ensembl peptide - ENSP00000398846
Ensembl peptide - ENSP00000410739
Ensembl peptide - ENSP00000423862
Ensembl peptide - ENSP00000424104
Ensembl peptide - ENSP00000425104
Ensembl peptide - ENSP00000426252
Ensembl peptide - ENSP00000458393
Ensembl peptide - ENSP00000473895
Ensembl peptide - ENSP00000477531
Ensembl peptide - ENSP00000478219
NCBI entrez gene - 7157     See in Manteia.
OMIM - 191170
RefSeq - NM_001126112
RefSeq - NM_001276761
RefSeq - NM_001276760
RefSeq - NM_001276699
RefSeq - NM_001276698
RefSeq - NM_001276697
RefSeq - NM_001276696
RefSeq - NM_001276695
RefSeq - NM_001126118
RefSeq - NM_001126117
RefSeq - NM_001126116
RefSeq - NM_001126115
RefSeq - NM_001126114
RefSeq - NM_001126113
RefSeq - NM_000546
RefSeq Peptide - NP_001119589
RefSeq Peptide - NP_000537
RefSeq Peptide - NP_001119584
RefSeq Peptide - NP_001119585
RefSeq Peptide - NP_001119586
RefSeq Peptide - NP_001119587
RefSeq Peptide - NP_001119588
RefSeq Peptide - NP_001119590
RefSeq Peptide - NP_001263624
RefSeq Peptide - NP_001263625
RefSeq Peptide - NP_001263626
RefSeq Peptide - NP_001263627
RefSeq Peptide - NP_001263628
RefSeq Peptide - NP_001263689
RefSeq Peptide - NP_001263690
swissprot - P04637
swissprot - S4R334
swissprot - K7PPA8
swissprot - J3KP33
swissprot - I3L0W9
swissprot - H2EHT1
swissprot - A0A087WT22
swissprot - A0A087WXZ1
swissprot - A0A087WZU8
swissprot - A0A087X1Q1
swissprot - A0A0U1RQC9
swissprot - E7EMR6
swissprot - E7EQX7
swissprot - E7ESS1
swissprot - E9PCY9
swissprot - E9PFT5
Ensembl - ENSG00000141510
  
Related genetic diseases (OMIM): 114480 - Breast cancer, 114480
  202300 - Adrenal cortical carcinoma, 202300
  260500 - Choroid plexus papilloma, 260500
  114500 - Colorectal cancer, 114500
  114550 - Hepatocellular carcinoma, 114550
  151623 - Li-Fraumeni syndrome, 151623
  607107 - Nasopharyngeal carcinoma, 607107
  259500 - Osteosarcoma, 259500
  260350 - Pancreatic cancer, 260350
  614740 - {Basal cell carcinoma 7}, 614740
  137800 - {Glioma susceptibility 1}, 137800

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 tp53ENSDARG00000035559Danio rerio
 Trp53ENSMUSG00000059552Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
TP73 / O15350 / tumor protein p73ENSG0000007890039
TP63 / Q9H3D4 / tumor protein p63ENSG0000007328238


Protein motifs (from Interpro)
Interpro ID Name
 IPR002117  p53 tumour suppressor family
 IPR008967  p53-like transcription factor, DNA-binding
 IPR010991  p53, tetramerisation domain
 IPR011615  p53, DNA-binding domain
 IPR012346  p53/RUNT-type transcription factor, DNA-binding domain superfamily
 IPR013872  p53 transactivation domain
 IPR036674  p53-like tetramerisation domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II ISS
 biological_processGO:0000733 DNA strand renaturation IDA
 biological_processGO:0006284 base-excision repair TAS
 biological_processGO:0006289 nucleotide-excision repair IMP
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006366 transcription by RNA polymerase II IEA
 biological_processGO:0006914 autophagy IMP
 biological_processGO:0006915 apoptotic process IEA
 biological_processGO:0006974 cellular response to DNA damage stimulus IDA
 biological_processGO:0006977 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest IMP
 biological_processGO:0006978 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator IMP
 biological_processGO:0006983 ER overload response IDA
 biological_processGO:0007049 cell cycle IEA
 biological_processGO:0007050 cell cycle arrest IDA
 biological_processGO:0007265 Ras protein signal transduction IEP
 biological_processGO:0007275 multicellular organism development IMP
 biological_processGO:0007569 cell aging IMP
 biological_processGO:0008104 protein localization IDA
 biological_processGO:0008283 cell proliferation TAS
 biological_processGO:0008285 negative regulation of cell proliferation IDA
 biological_processGO:0008340 determination of adult lifespan ISS
 biological_processGO:0009299 mRNA transcription IMP
 biological_processGO:0010165 response to X-ray IBA
 biological_processGO:0010332 response to gamma radiation IMP
 biological_processGO:0010628 positive regulation of gene expression IMP
 biological_processGO:0012501 programmed cell death IEA
 biological_processGO:0016032 viral process IMP
 biological_processGO:0016579 protein deubiquitination TAS
 biological_processGO:0019221 cytokine-mediated signaling pathway TAS
 biological_processGO:0030154 cell differentiation TAS
 biological_processGO:0030308 negative regulation of cell growth IMP
 biological_processGO:0030330 DNA damage response, signal transduction by p53 class mediator IMP
 biological_processGO:0031065 positive regulation of histone deacetylation IBA
 biological_processGO:0031497 chromatin assembly IDA
 biological_processGO:0031571 mitotic G1 DNA damage checkpoint IMP
 biological_processGO:0032461 positive regulation of protein oligomerization IDA
 biological_processGO:0034644 cellular response to UV IDA
 biological_processGO:0035690 cellular response to drug IEP
 biological_processGO:0042149 cellular response to glucose starvation IDA
 biological_processGO:0042771 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator IMP
 biological_processGO:0042981 regulation of apoptotic process IDA
 biological_processGO:0043065 positive regulation of apoptotic process IDA
 biological_processGO:0043066 negative regulation of apoptotic process IMP
 biological_processGO:0043153 entrainment of circadian clock by photoperiod ISS
 biological_processGO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process TAS
 biological_processGO:0043525 positive regulation of neuron apoptotic process IBA
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IMP
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IMP
 biological_processGO:0045899 positive regulation of RNA polymerase II transcriptional preinitiation complex assembly IDA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IGI
 biological_processGO:0046677 response to antibiotic IEP
 biological_processGO:0046827 positive regulation of protein export from nucleus TAS
 biological_processGO:0046902 regulation of mitochondrial membrane permeability TAS
 biological_processGO:0048147 negative regulation of fibroblast proliferation IMP
 biological_processGO:0048511 rhythmic process IEA
 biological_processGO:0048512 circadian behavior ISS
 biological_processGO:0050731 positive regulation of peptidyl-tyrosine phosphorylation ISS
 biological_processGO:0051097 negative regulation of helicase activity TAS
 biological_processGO:0051123 RNA polymerase II transcriptional preinitiation complex assembly IEA
 biological_processGO:0051262 protein tetramerization IEA
 biological_processGO:0051289 protein homotetramerization IMP
 biological_processGO:0051974 negative regulation of telomerase activity IDA
 biological_processGO:0065003 protein-containing complex assembly IDA
 biological_processGO:0070245 positive regulation of thymocyte apoptotic process ISS
 biological_processGO:0071158 positive regulation of cell cycle arrest IDA
 biological_processGO:0071456 cellular response to hypoxia IEP
 biological_processGO:0071479 cellular response to ionizing radiation IMP
 biological_processGO:0071480 cellular response to gamma radiation IDA
 biological_processGO:0072331 signal transduction by p53 class mediator IDA
 biological_processGO:0072332 intrinsic apoptotic signaling pathway by p53 class mediator IMP
 biological_processGO:0072717 cellular response to actinomycin D IDA
 biological_processGO:0090200 positive regulation of release of cytochrome c from mitochondria IDA
 biological_processGO:0090399 replicative senescence IMP
 biological_processGO:0090403 oxidative stress-induced premature senescence IMP
 biological_processGO:0097193 intrinsic apoptotic signaling pathway TAS
 biological_processGO:0097252 oligodendrocyte apoptotic process IDA
 biological_processGO:1900119 positive regulation of execution phase of apoptosis IMP
 biological_processGO:1900740 positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway TAS
 biological_processGO:1901796 regulation of signal transduction by p53 class mediator TAS
 biological_processGO:1902749 regulation of cell cycle G2/M phase transition TAS
 biological_processGO:1902895 positive regulation of pri-miRNA transcription by RNA polymerase II IDA
 biological_processGO:1990440 positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress ISS
 biological_processGO:2000379 positive regulation of reactive oxygen species metabolic process IMP
 biological_processGO:2001244 positive regulation of intrinsic apoptotic signaling pathway IMP
 cellular_componentGO:0000790 nuclear chromatin IDA
 cellular_componentGO:0005622 intracellular IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005657 replication fork IBA
 cellular_componentGO:0005669 transcription factor TFIID complex IDA
 cellular_componentGO:0005730 nucleolus IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005759 mitochondrial matrix IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016363 nuclear matrix IDA
 cellular_componentGO:0016604 nuclear body IDA
 cellular_componentGO:0016605 PML body IEA
 cellular_componentGO:0032991 protein-containing complex IMP
 molecular_functionGO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IDA
 molecular_functionGO:0000990 transcription factor activity, core RNA polymerase binding IDA
 molecular_functionGO:0001046 core promoter sequence-specific DNA binding IDA
 molecular_functionGO:0001074 transcription factor activity, RNA polymerase II proximal promoter sequence-specific DNA binding involved in preinitiation complex assembly IDA
 molecular_functionGO:0001084 obsolete transcription factor activity, TFIID-class binding IDA
 molecular_functionGO:0001085 RNA polymerase II transcription factor binding IPI
 molecular_functionGO:0001094 TFIID-class transcription factor binding IPI
 molecular_functionGO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
 molecular_functionGO:0002020 protease binding IPI
 molecular_functionGO:0002039 p53 binding IPI
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003682 chromatin binding IDA
 molecular_functionGO:0003684 damaged DNA binding IBA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IEA
 molecular_functionGO:0003730 mRNA 3"-UTR binding IDA
 molecular_functionGO:0005507 copper ion binding IDA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0005524 ATP binding IDA
 molecular_functionGO:0008134 transcription factor binding IPI
 molecular_functionGO:0008270 zinc ion binding TAS
 molecular_functionGO:0019899 enzyme binding IPI
 molecular_functionGO:0019901 protein kinase binding IPI
 molecular_functionGO:0019903 protein phosphatase binding IPI
 molecular_functionGO:0030971 receptor tyrosine kinase binding IPI
 molecular_functionGO:0031625 ubiquitin protein ligase binding IPI
 molecular_functionGO:0035035 histone acetyltransferase binding IPI
 molecular_functionGO:0042802 identical protein binding IMP
 molecular_functionGO:0042826 histone deacetylase binding IPI
 molecular_functionGO:0043621 protein self-association IPI
 molecular_functionGO:0044212 transcription regulatory region DNA binding IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0046982 protein heterodimerization activity IPI
 molecular_functionGO:0047485 protein N-terminus binding IPI
 molecular_functionGO:0051087 chaperone binding IPI
 molecular_functionGO:0051721 protein phosphatase 2A binding IPI
 molecular_functionGO:0097718 disordered domain specific binding IPI


Pathways (from Reactome)
Pathway description
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
Association of TriC/CCT with target proteins during biosynthesis
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
RUNX3 regulates CDKN1A transcription
Regulation of PTEN gene transcription
Factors involved in megakaryocyte development and platelet production


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
Show

 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
Show

 HP:0000080 Genital functional abnormality 
Show

 HP:0000238 Hydrocephalus 
Show

 HP:0000505 Impaired vision 
Show

 HP:0000737 Irritability 
Show

 HP:0000739 Anxiety 
Show

 HP:0000819 Diabetes mellitus 
Show

 HP:0000822 Hypertension "High blood pressure." [HPO:curators]
Show

 HP:0000859 Increased plasma aldosterone 
Show

 HP:0000952 Jaundice "Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream." [HPO:curators]
Show

 HP:0000975 Hyperhidrosis "An abnormally increased perspiration." [HPO:probinson]
Show

 HP:0000998 Hypertrichosis "Hypertrichosis is increased hair growth that is abnormal in quantity or location." [HPO:curators]
Show

 HP:0001065 Striae distensae "Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders." [HPO:curators]
Show

 HP:0001085 Papilledema "Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure." [HPO:curators]
Show

 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
Show

 HP:0001276 Hypertonia 
Show

 HP:0001324 Muscle weakness "Reduced strength of muscles." [HPO:curators]
Show

 HP:0001386 Joint swelling 
Show

 HP:0001402 Hepatocellular carcinoma 
Show

 HP:0001413 Micronodular cirrhosis 
Show

 HP:0001425 Heterogeneous 
Show

 HP:0001428 Somatic mutation 
Show

 HP:0001433 Hepatosplenomegaly 
Show

 HP:0001658 Myocardial infarction 
Show

 HP:0001738 Exocrine pancreatic insufficiency 
Show

 HP:0001744 Splenomegaly "An abnormal enlargement of the spleen." [HPO:curators]
Show

 HP:0001824 Weight loss 
Show

 HP:0001939 Metabolism abnormality 
Show

 HP:0001945 Fever 
Show

 HP:0001962 Palpitations 
Show

 HP:0002013 Vomiting 
Show

 HP:0002017 Nausea and vomiting 
Show

 HP:0002018 Nausea 
Show

 HP:0002027 Abdominal pain 
Show

 HP:0002039 Anorexia 
Show

 HP:0002254 Intermittent diarrhea 
Show

 HP:0002315 Headache "Cephalgia, or pain in the head originating from the cerebral vault." [HPO:curators]
Show

 HP:0002326 Transient ischemic attack 
Show

 HP:0002448 Encephalopathy, progressive 
Show

 HP:0002488 Acute leukemia 
Show

 HP:0002665 Lymphoma "A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells." [HPO:curators]
Show

 HP:0002667 Nephroblastoma (Wilms tumor) "A kind of renal tumor primarily affecting children. It is characterized by an abnormal proliferation of the metanephric blastema cells, which are believed to be primitive embryologic cells of the kidney. Clinically, nephroblatoma usually presents as an abdominal mass, and in some cases with abdominal pain, hypertension, hematuria, and fever." [HPO:curators]
Show

 HP:0002669 Osteogenic sarcoma 
Show

 HP:0002716 Lymphadenopathy 
Show

 HP:0002756 Pathologic fracture "A pathologic fracture occurs when a bone breaks in an area that is weakened secondary to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone." [HPO:curators]
Show

 HP:0002797 Osteolysis 
Show

 HP:0002861 Malignant melanoma "A malignant skin tumor of originating from melanocytes, pigment cells normally present in the epidermis and sometimes in the dermis." [HPO:curators]
Show

 HP:0002863 Myelodysplasia 
Show

 HP:0002891 Uterine leiomyosarcoma 
Show

 HP:0002894 Pancreatic cancer 
Show

 HP:0002896 Liver cancer 
Show

 HP:0002900 Hypokalemia 
Show

 HP:0002910 Elevated transaminases "Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage." [HPO:curators]
Show

 HP:0003002 Breast cancer 
Show

 HP:0003003 Colon cancer 
Show

 HP:0003010 Prolonged bleeding time 
Show

 HP:0003155 Elevated alkaline phosphatase "Abnormally increased serum levels of `alkaline phosphatase activity` (GO:0004035)." [HPO:probinson]
Show

 HP:0003401 Paresthesia "Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause." [HPO:curators]
Show

 HP:0003418 Back pain 
Show

 HP:0003466 Paradoxical increased cortisol secretion on dexamethasone suppression test 
Show

 HP:0004324 Increased body weight 
Show

 HP:0004374 Hemiplegia/hemiparesis "Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength." [HPO:curators]
Show

 HP:0004375 Neoplasia of the nervous system 
Show

 HP:0004389 Intestinal pseudo-obstruction 
Show

 HP:0004396 Poor appetite 
Show

 HP:0004420 Arterial thrombosis 
Show

 HP:0004936 Venous thrombosis 
Show

 HP:0005249 Functional intestinal obstruction 
Show

 HP:0005513 Increased megakaryocyte precursor cells 
Show

 HP:0005584 Renal cell carcinoma "Renal cell carcinoma (also known as hypernephroma) is the most common form of kidney cancer arising from the proximal renal tubule. The tissue of origin for renal cell carcinoma is the proximal renal tubular epithelium. Renal cell carcinoma can be classified as 1) clear cell carcinoma, 2) papillary carcinoma, 3) chromophobe renal carcinoma, and 4) collecting duct carcinoma." [HPO:curators]
Show

 HP:0006489 Abnormality of the femoral metaphysis 
Show

 HP:0006491 Abnormality of the tibial metaphysis 
Show

 HP:0006572 Subacute progressive viral hepatitis 
Show

 HP:0006716 Hereditary nonpolyposis colorectal carcinoma 
Show

 HP:0006725 Pancreatic adenocarcinoma 
Show

 HP:0006740 Transitional cell carcinoma of the bladder 
Show

 HP:0006744 Adrenocortical carcinoma 
Show

 HP:0006753 Increased gastric cancer 
Show

 HP:0008069 Neoplasia of the skin 
Show

 HP:0009919 Retinoblastoma "A tumor of the eye originating from cells of the retina." [HPO:curators]
Show

 HP:0010982 Polygenic inheritance "A type of multifactorial inheritance governed by the simultaneous action of many (more than three) gene loci." [HPO:probinson, ISBN:978-0192628961]
Show

 HP:0011027 Abnormality of the fallopian tube "An abnormality of the `fallopian tube` (FMA:18245)." [HPO:probinson]
Show

 HP:0011748 Adrenocorticotropic hormone deficiency "A reduced ability to secrete adrenocorticotropic hormone (ACTH), a hormone that stimulates the adrenal cortex to secrete of glucocorticoids such as cortisol." [DDD:spark]
Show

 HP:0011875 Abnormal platelet morphology "An anomaly in platelet form, ultrastructure, or intracellular organelles." [DDD:kfreson]
Show

 HP:0011974 Myelofibrosis "Replacement of bone marrow by fibrous tissue." [HPO:probinson]
Show

 HP:0012030 Increased urinary cortisol level "Abnormally increased concentration of `cortisol` (CHEBI:17650) in the urine." [HPO:probinson]
Show

 HP:0012125 Prostate cancer "A cancer of the `prostate` (FMA:9600)." [HPO:probinson]
Show

 HP:0012334 Extrahepatic cholestasis "Impairment of bile flow due to obstruction in large bile ducts outside the liver." [HPO:probinson]
Show

 HP:0012432 Chronic fatigue "Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer." [ORCID:0000-0001-5208-3432]
Show

 HP:0012531 Pain "An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage." [ORCID:0000-0001-5208-3432]
Show

 HP:0025134 Increased serum estradiol "An elevation above normal limits of the concentration of estradiol in the circulation." []
Show

 HP:0025269 Panic attack "A sudden episode of intense fear in a situation in which there is no danger or apparent cause. The panic attack is accompanied by symptoms such as palpitations, sweating and chills or hot flushes. There may be a sensation of dyspnea (being out of breath), chest pain, or abdominal distress. Some indiviudals with panic attacks may experience depersonalization, a fear of going crazy, or a fear of dying." []
Show

 HP:0025318 Ovarian carcinoma "A malignant neoplasm originating from the surface ovarian epithelium." []
Show

 HP:0025380 Increased serum androstenedione "Increased level of circulating 4-androstenedione." []
Show

 HP:0025436 Elevated serum 11-deoxycortisol "Increased concentration of 11-deoxycortisol in the circulation. 11-deoxycorticosterone, which is also known as simply deoxycorticosterone and 21-hydroxyprogesterone, is a steroid hormore that is produces in the adrenals and is a precursor to aldosterone." []
Show

 HP:0030078 Lung adenocarcinoma 
Show

 HP:0030406 Primary peritoneal carcinoma "A type of cancer that originates in the peritoneam. It is to be distinguished from metastatic cancer of the peritoneum. Peritoneal cancer can occur anywhere in the abdominal space, and affects the surface of organs contained inside the peritoneum." [HPO:probinson]
Show

 HP:0030448 Soft tissue sarcoma "A type of sarcoma (A connective tissue neoplasm formed by proliferation of mesodermal cells) that develops from soft tissues like fat, muscle, nerves, fibrous tissues, blood vessels, or deep skin tissues." [HPO:probinson]
Show

 HP:0045040 Abnormal lactate dehydrogenase activity 
Show

 HP:0100273 Neoplasia of the colon 
Show

 HP:0100543 Cognitive impairment "Abnormality in the process of thought including the ability to process information." [HPO:sdoelken]
Show

 HP:0100576 Amaurosis fugax "A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition." [HPO:sdoelken]
Show

 HP:0100592 Peritoneal abscess "The presence of an `abscess` (MPATH:608) of the `peritoneum` (FMA:9584)." [HPO:probinson]
Show

 HP:0100615 Ovarian neoplasm "The presence of a `neoplasm` (MPATH:218) the `ovary` (FMA:7209)." [HPO:probinson]
Show

 HP:0100630 Neoplasia of the nasopharynx 
Show

 HP:0100641 Cortical adrenal neoplasia 
Show

 HP:0100749 Chest pain 
Show

 HP:0200022 Choroid plexus papilloma "`Choroid plexus papilloma` (MPATH:246) is a histologically benign `neoplasm` (MPATH:218) located in the ventricular system of the `choroid plexus` (FMA:61934)." [HPO:skoehler]
Show

 HP:0410067 Increased level of L-fucose in urine "An increase in the level of L-fucose in the urine." [PMID:2311216]
Show

 HP:0500022 Abnormal serum dehydroepiandrosterone level "A deviation from the normal concentration of dehydroepiandrosterone in the circulation." [PMID:27979632]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000100462 PRMT5 / O14744 / protein arginine methyltransferase 5  / complex / reaction
 ENSG00000088808 Q96KQ4 / PPP1R13B / protein phosphatase 1 regulatory subunit 13B  / complex / reaction
 ENSG00000101266 P68400 / CSNK2A1 / casein kinase 2 alpha 1  / reaction
 ENSG00000111725 PRKAB1 / Q9Y478 / protein kinase AMP-activated non-catalytic subunit beta 1  / reaction
 ENSG00000131791 O43741 / PRKAB2 / protein kinase AMP-activated non-catalytic subunit beta 2  / reaction
 ENSG00000115592 PRKAG3 / Q9UGI9 / protein kinase AMP-activated non-catalytic subunit gamma 3  / reaction
 ENSG00000135679 MDM2 / Q00987 / MDM2 proto-oncogene  / complex / reaction
 ENSG00000074590 NUAK1 / O60285 / NUAK family kinase 1  / complex / reaction
 ENSG00000123374 CDK2 / P24941 / cyclin dependent kinase 2  / reaction
 ENSG00000083168 KAT6A / Q92794 / lysine acetyltransferase 6A  / complex / reaction
 ENSG00000070770 P19784 / CSNK2A2 / casein kinase 2 alpha 2  / reaction
 ENSG00000136319 TTC5 / Q8N0Z6 / tetratricopeptide repeat domain 5  / reaction / complex
 ENSG00000100393 EP300 / Q09472 / E1A binding protein p300  / reaction / complex
 ENSG00000176749 CDK5R1 / Q15078 / cyclin dependent kinase 5 regulatory subunit 1  / reaction
 ENSG00000147889 CDKN2A / P42771 / Q8N726 / cyclin dependent kinase inhibitor 2A  / complex / reaction
 ENSG00000106617 PRKAG2 / Q9UGJ0 / protein kinase AMP-activated non-catalytic subunit gamma 2  / reaction
 ENSG00000087586 AURKA / O14965 / aurora kinase A  / reaction
 ENSG00000140464 PML / P29590 / promyelocytic leukemia  / complex / reaction
 ENSG00000163875 MEAF6 / Q9HAF1 / MYST/Esa1 associated factor 6  / complex / reaction
 ENSG00000168395 ING5 / Q8WYH8 / inhibitor of growth family member 5  / complex / reaction
 ENSG00000149311 ATM / Q13315 / ATM serine/threonine kinase  / reaction
 ENSG00000164885 CDK5 / Q00535 / cyclin dependent kinase 5  / reaction
 ENSG00000132356 PRKAA1 / Q13131 / protein kinase AMP-activated catalytic subunit alpha 1  / reaction
 ENSG00000155542 SETD9 / Q8NE22 / SET domain containing 9  / reaction
 ENSG00000147133 TAF1 / P21675 / TATA-box binding protein associated factor 1  / reaction
 ENSG00000166164 BRD7 / Q9NPI1 / bromodomain containing 7  / complex / reaction
 ENSG00000103194 USP10 / Q14694 / ubiquitin specific peptidase 10  / complex
 ENSG00000005339 CREBBP / Q92793 / CREB binding protein  / complex / reaction
 ENSG00000106346 USP42 / Q9H9J4 / ubiquitin specific peptidase 42  / complex
 ENSG00000127445 PIN1 / Q13526 / peptidylprolyl cis/trans isomerase, NIMA-interacting 1  / reaction / complex
 ENSG00000075218 GTSE1 / Q9NYZ3 / G2 and S-phase expressed 1  / reaction / complex
 ENSG00000020633 RUNX3 / Q13761 / runt related transcription factor 3  / reaction / complex
 ENSG00000103479 RBL2 / Q08999 / RB transcriptional corepressor like 2  / complex / reaction
 ENSG00000183495 EP400 / Q96L91 / E1A binding protein p400  / reaction / complex
 ENSG00000115966 ATF2 / P15336 / activating transcription factor 2  / complex / reaction
 ENSG00000172530 BANP / Q8N9N5 / BTG3 associated nuclear protein  / complex / reaction
 ENSG00000114126 TFDP2 / Q14188 / transcription factor Dp-2  / complex / reaction
 ENSG00000205250 E2F4 / Q16254 / E2F transcription factor 4  / complex / reaction
 ENSG00000178999 AURKB / Q96GD4 / aurora kinase B  / reaction / complex
 ENSG00000152192 POU4F1 / Q01851 / POU class 4 homeobox 1  / reaction / complex
 ENSG00000064393 HIPK2 / Q9H2X6 / homeodomain interacting protein kinase 2  / complex / reaction
 ENSG00000151615 POU4F2 / Q12837 / POU class 4 homeobox 2  / reaction / complex
 ENSG00000156983 BRPF1 / P55201 / bromodomain and PHD finger containing 1  / complex / reaction
 ENSG00000161642 Q96PM9 / ZNF385A / zinc finger protein 385A  / complex / reaction
 ENSG00000141510 TP53 / P04637 / tumor protein p53  / complex / reaction
 ENSG00000162402 USP24 / Q9UPU5 / ubiquitin specific peptidase 24  / complex
 ENSG00000143207 COP1 / Q8NHY2 / COP1, E3 ubiquitin ligase  / complex
 ENSG00000188976 NOC2L / Q9Y3T9 / NOC2 like nucleolar associated transcriptional repressor  / reaction / complex
 ENSG00000163349 HIPK1 / Q86Z02 / homeodomain interacting protein kinase 1  / reaction / complex
 ENSG00000177606 JUN / P05412 / Jun proto-oncogene, AP-1 transcription factor subunit  / complex / reaction
 ENSG00000168556 ING2 / Q9H160 / inhibitor of growth family member 2  / complex / reaction
 ENSG00000164938 Q96A56 / TP53INP1 / tumor protein p53 inducible nuclear protein 1  / reaction / complex
 ENSG00000025293 PHF20 / Q9BVI0 / PHD finger protein 20  / complex / reaction
 ENSG00000198176 TFDP1 / Q14186 / transcription factor Dp-1  / complex / reaction
 ENSG00000169375 SIN3A / Q96ST3 / SIN3 transcription regulator family member A  / complex / reaction
 ENSG00000170345 FOS / P01100 / Fos proto-oncogene, AP-1 transcription factor subunit  / reaction / complex
 ENSG00000149554 CHEK1 / O14757 / checkpoint kinase 1  / reaction
 ENSG00000181929 P54619 / PRKAG1 / protein kinase AMP-activated non-catalytic subunit gamma 1  / reaction
 ENSG00000127334 DYRK2 / Q92630 / dual specificity tyrosine phosphorylation regulated kinase 2  / reaction
 ENSG00000184900 SUMO3 / P55854 / small ubiquitin-like modifier 3  / reaction
 ENSG00000118513 MYB / P10242 / MYB proto-oncogene, transcription factor  / complex / reaction
 ENSG00000103275 UBE2I / P63279 / ubiquitin conjugating enzyme E2 I  / reaction
 ENSG00000183765 CHEK2 / O96017 / checkpoint kinase 2  / reaction
 ENSG00000143514 Q13625 / TP53BP2 / tumor protein p53 binding protein 2  / complex / reaction
 ENSG00000118046 STK11 / Q15831 / serine/threonine kinase 11  / complex / reaction
 ENSG00000164053 ATRIP / Q8WXE1 / ATR interacting protein  / reaction
 ENSG00000188612 SUMO2 / P61956 / small ubiquitin-like modifier 2  / reaction
 ENSG00000183955 KMT5A / Q9NQR1 / lysine methyltransferase 5A  / reaction
 ENSG00000175054 ATR / Q13535 / ATR serine/threonine kinase  / reaction
 ENSG00000104881 Q8WUF5 / PPP1R13L / protein phosphatase 1 regulatory subunit 13 like  / reaction / complex
 ENSG00000187555 USP7 / Q93009 / ubiquitin specific peptidase 7  / reaction
 ENSG00000185513 Q9Y468 / L3MBTL1 / L3MBTL1, histone methyl-lysine binding protein  / reaction / complex
 ENSG00000198625 MDM4 / O15151 / MDM4, p53 regulator  / complex / reaction
 ENSG00000173846 PLK3 / Q9H4B4 / polo like kinase 3  / reaction
 ENSG00000143499 SMYD2 / Q9NRG4 / SET and MYND domain containing 2  / reaction
 ENSG00000172315 Q96S44 / TP53RK / TP53 regulating kinase  / reaction
 ENSG00000181090 EHMT1 / Q9H9B1 / euchromatic histone lysine methyltransferase 1  / reaction
 ENSG00000162409 P54646 / PRKAA2 / protein kinase AMP-activated catalytic subunit alpha 2  / reaction
 ENSG00000204371 EHMT2 / Q96KQ7 / euchromatic histone lysine methyltransferase 2  / reaction
 ENSG00000204435 CSNK2B / P67870 / casein kinase 2 beta  / reaction
 ENSG00000152409 JMY / Q8N9B5 / junction mediating and regulatory protein, p53 cofactor  / reaction / complex
 ENSG00000089022 Q8IW41 / MAPKAPK5 / mitogen-activated protein kinase-activated protein kinase 5  / reaction






 

1 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   


© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr