MCM2 (minichromosome maintenance complex component 2)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4171
Gene name Gene Name - the full gene name approved by the HGNC.
Minichromosome maintenance complex component 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MCM2
Synonyms (NCBI Gene) Gene synonyms aliases
BM28, CCNL1, CDCL1, D3S3194, DFNA70, MITOTIN, cdc19
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q21.3
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are involved in the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs1553743140 G>C Likely-pathogenic Splice acceptor variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(77)
miRTarBase ID miRNA Experiments Reference
MIRT000473 hsa-miR-1296-5p real time qRT-PCR, Western blot 20332239
MIRT007327 hsa-miR-31-5p Luciferase reporter assay 23233736
MIRT023837 hsa-miR-1-3p Proteomics 18668040
MIRT025400 hsa-miR-34a-5p Proteomics 21566225
MIRT025400 hsa-miR-34a-5p Proteomics 21566225
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
MYCN Activation 17826980
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(54)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000228 Component Nuclear chromosome IEA
GO:0000727 Process Double-strand break repair via break-induced replication IBA
GO:0000781 Component Chromosome, telomeric region HDA 19135898
GO:0000785 Component Chromatin IDA 16899510
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
116945 6944 ENSG00000073111
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P49736
Protein name DNA replication licensing factor MCM2 (EC 3.6.4.12) (Minichromosome maintenance protein 2 homolog) (Nuclear protein BM28)
Protein function Acts as a component of the MCM2-7 complex (MCM complex) which is the replicative helicase essential for 'once per cell cycle' DNA replication initiation and elongation in eukaryotic cells. Core component of CDC45-MCM-GINS (CMG) helicase, the mol
PDB 4UUZ , 5BNV , 5BNX , 5BO0 , 5C3I , 5JA4 , 6XTX , 6XTY , 6YA7 , 7CIZ , 7CJ0 , 7PFO , 7PLO , 7W1Y , 7W68 , 8B9D , 8RWV , 8S09 , 8S0A , 8S0B , 8S0D , 8S0E , 8S0F , 8W0E , 8W0F , 8W0G , 8W0I , 8YJF , 8YJM , 9CAQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12619 MCM2_N 51 → 182 Mini-chromosome maintenance protein 2 Family
PF14551 MCM_N 196 → 291 MCM N-terminal domain Domain
PF17207 MCM_OB 293 → 422 MCM OB domain Domain
PF00493 MCM 460 → 683 MCM P-loop domain Domain
PF17855 MCM_lid 718 → 802 MCM AAA-lid domain Domain
Sequence 
MAESSESFTMASSPAQRRRGNDPLTSSPGRSSRRTDALTSSPGRDLPPFEDESEGLLGTE
GPLEEEEDGEELIGDGMERDYRAIPELDAYEAEGLALDDEDVEELTASQREAAERAMRQR
DREAGRGLGRMRRGLLYDSDEEDEERPARKRRQVERATEDGEEDEEMIESIENLEDLKGH
SVREWVSMAGPRLEIHHRFKNFLRTHVDSHGHNVFKERISDMCKENRESLVVNYEDLAAR
EHVLAYFLPEAPAELLQIFDEAALEVVLAMYPKYDRITNHIHVRISHLPLVEELRSLRQL
HLNQLIRTSGVVTSCTGVLPQLSMVKYNCNKCNFVLGPFCQSQNQEVKPGSCPECQSAGP
FEVNMEETIYQNYQRIRIQESPGKVAAGRLPRSKDAILLADLVDSCKPGDEIELTGIYHN
NYDGSLNTANGFPVFATVILANHVAKKDNKVAVGELTDEDVKMITSLSKDQQIGEKIFAS
IAPSIYGHEDIKRGLALALFGGEPKNPGGKHKVRGDINVLLCGDPGTAKSQFLKYIEKVS
SRAIFTTGQGASAVGLTAYVQRHPVSREWTLEAGALVLADRGVCLIDEFDKMNDQDRTSI
HEAMEQQSISISKAGIVTSLQARCTVIAAANPIGGRYDPSLTFSENVDLTEPIISRFDIL
CVVRDTVDPVQDEMLARFVVGSHVRHHPSNKEEEGLANGSAAEPAMPNTYGVEPLPQEVL
KKYIIYAKERVHPKLNQMDQDKVAKMYSDLRKESMATGSIPITVRHIESMIRMAEAHARI
HLRDYVIEDDVNMAIRVMLESFIDTQKFSVMRSMRKTFARYLSFRRDNNELLLFILKQLV
AEQVTYQRNRFGAQQDTIEVPEKDLVDKARQINIHNLSAFYDSELFRMNKFSHDLKRKMI
LQQF
Sequence length 904
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  DNA replication
Cell cycle 		  Activation of ATR in response to replication stress
Assembly of the pre-replicative complex
Orc1 removal from chromatin
Activation of the pre-replicative complex
Switching of origins to a post-replicative state
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Deafness autosomal dominant nonsyndromic hearing loss 70, autosomal dominant nonsyndromic hearing loss, Autosomal dominant nonsyndromic hearing loss 70 N/A N/A GenCC, ClinVar
Show/Hide Text Mining Associations (111)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acute Disease Associate 19243005
Adenocarcinoma Associate 17940502, 21943228, 27748889
Adenocarcinoma of Lung Associate 31323040, 32121037, 37517032
Adenocarcinoma of Lung Stimulate 31545501
Adrenal Cortex Diseases Associate 19031940
Adrenocortical Adenoma Associate 19031940
Adrenocortical Carcinoma Stimulate 19031940
Alzheimer Disease Associate 19946466
Ameloblastoma Associate 26823641
Aneuploidy Stimulate 19920109