ENSG00000073111


Homo sapiens

Features
Gene ID: ENSG00000073111
  
Biological name :MCM2
  
Synonyms : MCM2 / minichromosome maintenance complex component 2 / P49736
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: 1
Band: q21.3
Gene start: 127598223
Gene end: 127622436
  
Corresponding Affymetrix probe sets: 202107_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000420007
Ensembl peptide - ENSP00000418930
Ensembl peptide - ENSP00000420528
Ensembl peptide - ENSP00000419802
Ensembl peptide - ENSP00000265056
Ensembl peptide - ENSP00000417800
NCBI entrez gene - 4171     See in Manteia.
OMIM - 116945
RefSeq - NM_004526
RefSeq Peptide - NP_004517
swissprot - F8WDM3
swissprot - H0Y8E6
swissprot - H7C4N9
swissprot - C9JZ21
swissprot - P49736
swissprot - C9J013
Ensembl - ENSG00000073111
  
Related genetic diseases (OMIM): 616968 - ?Deafness, autosomal dominant 70, 616968
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
 mcm2ENSDARG00000102798Danio rerio
 MCM2ENSGALG00000006037Gallus gallus
 Mcm2ENSMUSG00000002870Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR001208  MCM domain
 IPR008045  DNA replication licensing factor Mcm2
 IPR012340  Nucleic acid-binding, OB-fold
 IPR018525  Mini-chromosome maintenance, conserved site
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR027925  MCM N-terminal domain
 IPR031327  Mini-chromosome maintenance protein
 IPR033762  MCM OB domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000082 G1/S transition of mitotic cell cycle TAS
 biological_processGO:0006260 DNA replication IEA
 biological_processGO:0006268 DNA unwinding involved in DNA replication IEA
 biological_processGO:0006270 DNA replication initiation IEA
 biological_processGO:0006334 nucleosome assembly IEA
 biological_processGO:0006915 apoptotic process IMP
 biological_processGO:0007049 cell cycle IEA
 biological_processGO:0032508 DNA duplex unwinding IEA
 biological_processGO:0071353 cellular response to interleukin-4 IEA
 biological_processGO:0090102 cochlea development IMP
 cellular_componentGO:0000784 nuclear chromosome, telomeric region HDA
 cellular_componentGO:0000785 chromatin TAS
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005664 nuclear origin of replication recognition complex IEA
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0015630 microtubule cytoskeleton IDA
 cellular_componentGO:0042555 MCM complex IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003678 DNA helicase activity IEA
 molecular_functionGO:0003688 DNA replication origin binding IEA
 molecular_functionGO:0004386 helicase activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0019899 enzyme binding IEA
 molecular_functionGO:0042393 histone binding IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Activation of ATR in response to replication stress
Unwinding of DNA
Assembly of the pre-replicative complex
Orc1 removal from chromatin
Activation of the pre-replicative complex
Switching of origins to a post-replicative state


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:0000408 Hearing loss, sensorineural, progressive 
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 HP:0003677 Slow progression 
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 HP:0003828 Variable expressivity 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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