MCM2
entrez
4171
canonical
uniprot
P49736
canonical
ensembl
ENSG00000073111
resolver
ensp
ENSP00000265056
resolver
enst
ENST00000265056
resolver
genesymbol
MCM2
resolver
genesymbol_syn
BM28
resolver
genesymbol_syn
CCNL1
resolver
genesymbol_syn
CDCL1
resolver
genesymbol_syn
KIAA0030
resolver
hgnc
HGNC:6944
resolver
uniprot
Q14577
resolver
uniprot
Q15023
resolver
uniprot
Q8N2V1
resolver
uniprot
Q969W7
resolver
uniprot
Q96AE1
resolver
uniprot
Q9BRM7
resolver
uniprot_entry
MCM2_HUMAN
resolver
uniprot_sec
Q14577
resolver
uniprot_sec
Q15023
resolver
uniprot_sec
Q8N2V1
resolver
uniprot_sec
Q969W7
resolver
uniprot_sec
Q96AE1
resolver
uniprot_sec
Q9BRM7
resolver
amino_acid_sequence
MAESSESFTMASSPAQRRRGNDPLTSSPGRSSRRTDALTSSPGRDLPPFEDESEGLLGTEGPLEEEEDGEELIGDGMERDYRAIPELDAYEAEGLALDDEDVEELTASQREAAERAMRQRDREAGRGLGRMRRGLLYDSDEEDEERPARKRRQVERATEDGEEDEEMIESIENLEDLKGHSVREWVSMAGPRLEIHHRFKNFLRTHVDSHGHNVFKERISDMCKENRESLVVNYEDLAAREHVLAYFLPEAPAELLQIFDEAALEVVLAMYPKYDRITNHIHVRISHLPLVEELRSLRQLHLNQLIRTSGVVTSCTGVLPQLSMVKYNCNKCNFVLGPFCQSQNQEVKPGSCPECQSAGPFEVNMEETIYQNYQRIRIQESPGKVAAGRLPRSKDAILLADLVDSCKPGDEIELTGIYHNNYDGSLNTANGFPVFATVILANHVAKKDNKVAVGELTDEDVKMITSLSKDQQIGEKIFASIAPSIYGHEDIKRGLALALFGGEPKNPGGKHKVRGDINVLLCGDPGTAKSQFLKYIEKVSSRAIFTTGQGASAVGLTAYVQRHPVSREWTLEAGALVLADRGVCLIDEFDKMNDQDRTSIHEAMEQQSISISKAGIVTSLQARCTVIAAANPIGGRYDPSLTFSENVDLTEPIISRFDILCVVRDTVDPVQDEMLARFVVGSHVRHHPSNKEEEGLANGSAAEPAMPNTYGVEPLPQEVLKKYIIYAKERVHPKLNQMDQDKVAKMYSDLRKESMATGSIPITVRHIESMIRMAEAHARIHLRDYVIEDDVNMAIRVMLESFIDTQKFSVMRSMRKTFARYLSFRRDNNELLLFILKQLVAEQVTYQRNRFGAQQDTIEVPEKDLVDKARQINIHNLSAFYDSELFRMNKFSHDLKRKMILQQF
uniprot
proteins
disease_involvement
DISEASE: Deafness, autosomal dominant, 70 (DFNA70) [MIM:616968]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA70 is characterized by slowly progressive, postlingual hearing impairment. {ECO:0000269|PubMed:26196677}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.6.4.12
uniprot
proteins
function
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 molecular machine that unwinds template DNA during replication, and around which the replisome is built (PubMed:32453425, PubMed:34694004, PubMed:34700328, PubMed:35585232). The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differentially to the complex helicase activity (PubMed:32453425). Required for the entry in S phase and for cell division (PubMed:8175912). Plays a role in terminally differentiated hair cells development of the cochlea and induces cells apoptosis (PubMed:26196677). {ECO:0000269|PubMed:26196677, ECO:0000269|PubMed:32453425, ECO:0000269|PubMed:34694004, ECO:0000269|PubMed:34700328, ECO:0000269|PubMed:35585232, ECO:0000269|PubMed:8175912}.
uniprot
proteins
mass_dalton
101896
uniprot
proteins
mutagenesis
MUTAGEN 27; /note="S->A: Impairs ATPase activity of the MCM-2-7 complex and reduces phosphorylation by the CDC7-DBF4 complex; when associated with A-41 and A-139."; /evidence="ECO:0000269|PubMed:16899510"; MUTAGEN 41; /note="S->A: Impairs ATPase activity of the MCM-2-7 complex and reduces phosphorylation by the CDC7-DBF4 complex; when associated with A-27 and A-139."; /evidence="ECO:0000269|PubMed:16899510"; MUTAGEN 81..90; /note="YRAIPELDAY->ARAIPELDAA: Loss of interaction with DNAJC9."; /evidence="ECO:0000269|PubMed:33857403"; MUTAGEN 108; /note="S->A: Reduces phosphorylation by ATR."; /evidence="ECO:0000269|PubMed:15210935"; MUTAGEN 139; /note="S->A: Impairs ATPase activity of the MCM-2-7 complex and reduces phosphorylation by the CDC7-DBF4 complex; when associated with A-27 and A-41."; /evidence="ECO:0000269|PubMed:16899510
uniprot
proteins
post_translational_modification
PTM: Phosphorylated on Ser-108 by ATR in proliferating cells. Ser-108 proliferation is increased by genotoxic agents. Ser-40 is mediated by the CDC7-DBF4 and CDC7-DBF4B complexes, while Ser-53 phosphorylation is only mediated by the CDC7-DBF4 complex. Phosphorylation by the CDC7-DBF4 complex during G1/S phase is required for the initiation of DNA replication. {ECO:0000269|PubMed:15210935, ECO:0000269|PubMed:16899510, ECO:0000269|PubMed:17062569}.
uniprot
proteins
protein_family
MCM family
uniprot
proteins
pubmed
11095689
uniprot
proteins
pubmed
15210935
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16387653
uniprot
proteins
pubmed
16899510
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
17062569
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17296731
uniprot
proteins
pubmed
17487921
uniprot
proteins
pubmed
17525332
uniprot
proteins
pubmed
18220336
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19367720
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
26196677
uniprot
proteins
pubmed
27401717
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
28191891
uniprot
proteins
pubmed
32453425
uniprot
proteins
pubmed
33857403
uniprot
proteins
pubmed
34694004
uniprot
proteins
pubmed
34700328
uniprot
proteins
pubmed
35585232
uniprot
proteins
pubmed
36807739
uniprot
proteins
pubmed
7584026
uniprot
proteins
pubmed
8175912
uniprot
proteins
pubmed
8258304
uniprot
proteins
pubmed
9305914
uniprot
proteins
sequence_length
904
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:8175912}. Chromosome {ECO:0000305|PubMed:35585232}. Note=Associated with chromatin before the formation of nuclei and detaches from it as DNA replication progresses. {ECO:0000250|UniProtKB:P55861}.
uniprot
proteins