ENSG00000118971


Homo sapiens

Features
Gene ID: ENSG00000118971
  
Biological name :CCND2
  
Synonyms : CCND2 / cyclin D2 / P30279
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: 1
Band: p13.32
Gene start: 4273772
Gene end: 4305350
  
Corresponding Affymetrix probe sets: 200951_s_at (Human Genome U133 Plus 2.0 Array)   200952_s_at (Human Genome U133 Plus 2.0 Array)   200953_s_at (Human Genome U133 Plus 2.0 Array)   231259_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000261254
Ensembl peptide - ENSP00000442807
NCBI entrez gene - 894     See in Manteia.
OMIM - 123833
RefSeq - NM_001759
RefSeq Peptide - NP_001750
swissprot - P30279
swissprot - H0YGD4
Ensembl - ENSG00000118971
  
Related genetic diseases (OMIM): 615938 - Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938
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
 ccnd2aENSDARG00000051748Danio rerio
 ccnd2bENSDARG00000070408Danio rerio
 CCND2ENSGALG00000017283Gallus gallus
 Ccnd2ENSMUSG00000000184Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CCND1 / P24385 / cyclin D1ENSG0000011009263
CCND3 / P30281 / cyclin D3ENSG0000011257662
CCNE1 / P24864 / cyclin E1ENSG0000010517323
CCNE2 / O96020 / cyclin E2ENSG0000017530522
CCNA2 / P20248 / cyclin A2ENSG0000014538621
CCNA1 / P78396 / cyclin A1ENSG0000013310121
CCNB1 / P14635 / cyclin B1ENSG0000013405719
CCNO / P22674 / cyclin OENSG0000015266918
CCNB2 / O95067 / cyclin B2ENSG0000015745618
CCNB3 / Q8WWL7 / cyclin B3ENSG0000014708216


Protein motifs (from Interpro)
Interpro ID Name
 IPR004367  Cyclin, C-terminal domain
 IPR006671  Cyclin, N-terminal
 IPR013763  Cyclin-like
 IPR015451  Cyclin D
 IPR036915  Cyclin-like superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001934 positive regulation of protein phosphorylation IDA
 biological_processGO:0007049 cell cycle IEA
 biological_processGO:0007616 long-term memory IEA
 biological_processGO:0008284 positive regulation of cell proliferation IMP
 biological_processGO:0008344 adult locomotory behavior IEA
 biological_processGO:0043066 negative regulation of apoptotic process IMP
 biological_processGO:0045737 positive regulation of cyclin-dependent protein serine/threonine kinase activity IDA
 biological_processGO:0051301 cell division IEA
 biological_processGO:0051726 regulation of cell cycle IEA
 biological_processGO:0071481 cellular response to X-ray IEA
 biological_processGO:1900087 positive regulation of G1/S transition of mitotic cell cycle IMP
 cellular_componentGO:0000307 cyclin-dependent protein kinase holoenzyme complex IDA
 cellular_componentGO:0000785 chromatin IDA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005730 nucleolus IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0031965 nuclear membrane IDA
 cellular_componentGO:0097129 cyclin D2-CDK4 complex IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0019901 protein kinase binding IPI


Pathways (from Reactome)
Pathway description
Cyclin D associated events in G1
Regulation of RUNX1 Expression and Activity


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]
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 HP:0000160 Microstomia "The presence of an abnormally small `mouth` (FMA:49184)." [HPO:curators]
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 HP:0000238 Hydrocephalus 
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 HP:0000256 Macrocephaly "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson]
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 HP:0000316 Hypertelorism 
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 HP:0000348 High forehead "An abnormally increased height of the forehead." [HPO:curators]
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 HP:0000506 Telecanthus "An abnormally increased distance between the medial canthi (angle between eyelids) of the eyelids." [HPO:curators]
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 HP:0001162 Postaxial polydactyly (hands) "Supernumerary digits located at the ulnar side of the hand." [HPO:curators]
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 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]
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001355 Megalencephaly "The presence of an unusually large, and usually malfunctioning brain." [HPO:curators]
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 HP:0001629 Ventricular septal defect "A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum." [HPO:curators]
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 HP:0001653 Mitral regurgitation "An `abnormality of the mitral valve` (HP:0001633) characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction." [HPO:probinson]
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 HP:0002119 Ventriculomegaly 
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 HP:0002126 Polymicrogyria "A congenital abnormality of the cerebral hemisphere characterized by an excessive number of small gyri (convolutions) on the surface of the brain." [HPO:curators]
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 HP:0003577 Onset at birth 
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 HP:0005105 Abnormal nasal morphology 
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 HP:0005280 Depressed nasal root and bridge 
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 HP:0011220 Prominent forehead "Forward prominence of the entire forehead, due to protrusion of the frontal bone." [pmid:19125436]
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 HP:0100542 Abnormal localization of kidneys 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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