ENSG00000147883


Homo sapiens

Features
Gene ID: ENSG00000147883
  
Biological name :CDKN2B
  
Synonyms : CDKN2B / cyclin dependent kinase inhibitor 2B / P42772
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 9
Strand: -1
Band: p21.3
Gene start: 22002903
Gene end: 22009363
  
Corresponding Affymetrix probe sets: 207530_s_at (Human Genome U133 Plus 2.0 Array)   236313_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000276925
Ensembl peptide - ENSP00000369487
NCBI entrez gene - 1030     See in Manteia.
OMIM - 600431
RefSeq - NM_004936
RefSeq - NM_078487
RefSeq Peptide - NP_004927
RefSeq Peptide - NP_511042
swissprot - P42772
swissprot - K7PPU3
Ensembl - ENSG00000147883
  
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
 cdkn2a/bENSDARG00000037262Danio rerio
 CDKN2BENSGALG00000026137Gallus gallus
 Cdkn2bENSMUSG00000073802Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CDKN2A / P42771 / Q8N726 / cyclin dependent kinase inhibitor 2AENSG0000014788977
CDKN2D / P55273 / cyclin dependent kinase inhibitor 2DENSG0000012935543
CDKN2C / P42773 / cyclin dependent kinase inhibitor 2CENSG0000012308039


Protein motifs (from Interpro)
Interpro ID Name
 IPR020683  Ankyrin repeat-containing domain
 IPR036770  Ankyrin repeat-containing domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000079 regulation of cyclin-dependent protein serine/threonine kinase activity IDA
 biological_processGO:0000086 G2/M transition of mitotic cell cycle IMP
 biological_processGO:0007049 cell cycle IEA
 biological_processGO:0007050 cell cycle arrest IMP
 biological_processGO:0007093 mitotic cell cycle checkpoint IMP
 biological_processGO:0008285 negative regulation of cell proliferation IMP
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0030219 megakaryocyte differentiation IEP
 biological_processGO:0030511 positive regulation of transforming growth factor beta receptor signaling pathway IMP
 biological_processGO:0031658 negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle TAS
 biological_processGO:0031668 cellular response to extracellular stimulus IMP
 biological_processGO:0031670 cellular response to nutrient IMP
 biological_processGO:0042326 negative regulation of phosphorylation IDA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II TAS
 biological_processGO:0048536 spleen development IEA
 biological_processGO:0050680 negative regulation of epithelial cell proliferation IMP
 biological_processGO:2000134 negative regulation of G1/S transition of mitotic cell cycle IEA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 molecular_functionGO:0004861 cyclin-dependent protein serine/threonine kinase inhibitor activity NAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0019901 protein kinase binding IPI


Pathways (from Reactome)
Pathway description
SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
Oxidative Stress Induced Senescence
Senescence-Associated Secretory Phenotype (SASP)
Oncogene Induced Senescence
Cyclin D associated events in G1


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000488 Retinopathy 
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 HP:0000825 Hyperinsulinemic hypoglycemia 
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 HP:0000843 Hyperparathyroidism 
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 HP:0000845 Acromegaly "Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness." [HPO:curators]
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 HP:0000854 Thyroid adenoma 
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 HP:0000958 Dry skin 
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 HP:0001031 Subcutaneous lipomas 
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 HP:0001480 Freckling 
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 HP:0001595 Hair abnormality 
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 HP:0002014 Diarrhea 
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 HP:0002044 Zollinger-Ellison syndrome 
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 HP:0002071 Extrapyramidal signs 
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 HP:0002574 Episodic abdominal pain 
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 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]
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 HP:0002894 Pancreatic cancer 
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 HP:0002897 Parathyroid adenoma 
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 HP:0003072 Hypercalcemia "A level of blood calcium that is higher than normal." [HPO:curators]
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 HP:0003118 Increased serum cortisol 
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 HP:0003165 Elevated serum parathyroid hormone (PTH) level 
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 HP:0003764 Abnormal or excess nevi 
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 HP:0004398 Peptic ulcer 
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 HP:0006744 Adrenocortical carcinoma 
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 HP:0006753 Increased gastric cancer 
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 HP:0006767 Prolactin-secreting pituitary adenoma 
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 HP:0007449 Confetti-like hypopigmented macules 
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 HP:0008208 Parathyroid hyperplasia "An absolute increase in the mass of the parenchymal cells of the parathyroid gland leading to an enlargement of all four parathyroid glands." [HPO:curators]
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 HP:0008256 Adrenocortical adenoma "Adrenocortical adenomas are benign tumors of the adrenal cortex." [HPO:curators]
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 HP:0008283 Hyperinsulinemia, fasting 
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 HP:0008291 ACTH-producing pituitary microadenomas "Presence of microadenomas that produce adrenocorticotropic hormone (ACTH) in the pituitary gland." [HPO:curators]
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 HP:0010615 Angiofibromas "Angiofibroma consist of many often dilated vessels." [HPO:curators]
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 HP:0010783 Erythema "Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin." [HPO:probinson]
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 HP:0011760 Pituitary growth hormone cell adenoma "A type of pituitary adenoma that produces grwoth hormone." [DDD:spark]
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 HP:0011761 Pituitary null cell adenoma "A type of pituitary adenoma that is of unknown cellular origin and that lacks immunocytochemical or fine structural markers. Null cell adenomas are not associated with hormone excess." [DDD:spark]
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 HP:0012030 Increased urinary cortisol level "Abnormally increased concentration of `cortisol` (CHEBI:17650) in the urine." [HPO:probinson]
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 HP:0012197 Insulinoma "A type of tumor of the pancreatic beta cells that secretes excess insulin and can result in hypoglycemia." [HPO:probinson]
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 HP:0012334 Extrahepatic cholestasis "Impairment of bile flow due to obstruction in large bile ducts outside the liver." [HPO:probinson]
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 HP:0030404 Glucagonoma "An endocrine tumor of the pancreas that secretes excessive amounts of glucagon." [HPO:probinson]
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 HP:0030688 Increased glucagon level "An elevated concentration of glucagon in the blood circulation." []
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 HP:0100013 Neoplasia of the breast 
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 HP:0100522 Thymoma "A tumor originating from the epithelial cells of the `thymus` (FMA:9607)." [HPO:sdoelken]
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 HP:0100570 Carcinoid "A tumor formed from the endocrine (argentaffin) cells of the mucosal lining of a variety of organs including the stomach and intestine. These cells are from neuroectodermal origin." [HPO:sdoelkens]
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 HP:0100633 Esophagitis 
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 HP:0100763 Abnormality of the lymphatic system 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000105810 CDK6 / Q00534 / cyclin dependent kinase 6  / reaction / complex
 ENSG00000135446 CDK4 / P11802 / cyclin dependent kinase 4  / reaction / complex






 

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