ENSG00000123080


Homo sapiens

Features
Gene ID: ENSG00000123080
  
Biological name :CDKN2C
  
Synonyms : CDKN2C / cyclin dependent kinase inhibitor 2C / P42773
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: p32.3
Gene start: 50960745
Gene end: 50974633
  
Corresponding Affymetrix probe sets: 204159_at (Human Genome U133 Plus 2.0 Array)   211792_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000262662
Ensembl peptide - ENSP00000360826
Ensembl peptide - ENSP00000379452
NCBI entrez gene - 1031     See in Manteia.
OMIM - 603369
RefSeq - NM_001262
RefSeq - NM_078626
RefSeq Peptide - NP_001253
RefSeq Peptide - NP_523240
swissprot - P42773
swissprot - Q6ICV4
Ensembl - ENSG00000123080
  
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
 cdkn2cENSDARG00000057610Danio rerio
 CDKN2CENSGALG00000010537Gallus gallus
 Cdkn2cENSMUSG00000028551Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CDKN2D / P55273 / cyclin dependent kinase inhibitor 2DENSG0000012935542
CDKN2A / P42771 / Q8N726 / cyclin dependent kinase inhibitor 2AENSG0000014788933
CDKN2B / P42772 / cyclin dependent kinase inhibitor 2BENSG0000014788332


Protein motifs (from Interpro)
Interpro ID Name
 IPR002110  Ankyrin repeat
 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:0000082 G1/S transition of mitotic cell cycle IDA
 biological_processGO:0007049 cell cycle IEA
 biological_processGO:0007050 cell cycle arrest IDA
 biological_processGO:0008285 negative regulation of cell proliferation IDA
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0030308 negative regulation of cell growth IDA
 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:0042326 negative regulation of phosphorylation IDA
 biological_processGO:0045736 negative regulation of cyclin-dependent protein serine/threonine kinase activity IEA
 biological_processGO:0048709 oligodendrocyte differentiation IEA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005829 cytosol TAS
 molecular_functionGO:0004861 cyclin-dependent protein serine/threonine kinase inhibitor activity IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0019901 protein kinase binding IPI


Pathways (from Reactome)
Pathway description
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: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:0001031 Subcutaneous lipomas 
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 HP:0002014 Diarrhea 
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 HP:0002044 Zollinger-Ellison syndrome 
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 HP:0002574 Episodic abdominal pain 
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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:0004398 Peptic ulcer 
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 HP:0006744 Adrenocortical carcinoma 
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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: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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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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