Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4171
Gene name	Minichromosome maintenance complex component 2
Gene symbol	MCM2
Synonyms (NCBI Gene)	BM28CCNL1CDCL1D3S3194DFNA70MITOTINcdc19
Chromosome	3
Chromosome location	3q21.3
Summary	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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1553743140	G>C	Likely-pathogenic	Splice acceptor variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT000473	hsa-miR-1296-5p	real time qRT-PCRWestern 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
MIRT025400	hsa-miR-34a-5p	Proteomics	21566225
MIRT042538	hsa-miR-423-3p	CLASH	23622248
MIRT039755	hsa-miR-615-3p	CLASH	23622248
MIRT039755	hsa-miR-615-3p	CLASH	23622248
MIRT038004	hsa-miR-500a-5p	CLASH	23622248
MIRT037990	hsa-miR-501-3p	CLASH	23622248
MIRT036508	hsa-miR-1226-3p	CLASH	23622248
MIRT1137639	hsa-miR-1976	CLIP-seq
MIRT1137640	hsa-miR-214	CLIP-seq
MIRT1137641	hsa-miR-3140-5p	CLIP-seq
MIRT1137642	hsa-miR-3591-3p	CLIP-seq
MIRT1137643	hsa-miR-3616-3p	CLIP-seq
MIRT1137644	hsa-miR-3619-5p	CLIP-seq
MIRT1137645	hsa-miR-3913-3p	CLIP-seq
MIRT1137646	hsa-miR-4291	CLIP-seq
MIRT1137647	hsa-miR-4436b-3p	CLIP-seq
MIRT1137648	hsa-miR-4539	CLIP-seq
MIRT1137649	hsa-miR-4660	CLIP-seq
MIRT1137650	hsa-miR-4680-5p	CLIP-seq
MIRT1137651	hsa-miR-4716-5p	CLIP-seq
MIRT1137652	hsa-miR-4793-5p	CLIP-seq
MIRT1137653	hsa-miR-489	CLIP-seq
MIRT1137654	hsa-miR-512-5p	CLIP-seq
MIRT1137655	hsa-miR-640	CLIP-seq
MIRT1137656	hsa-miR-646	CLIP-seq
MIRT1137657	hsa-miR-761	CLIP-seq
MIRT1137658	hsa-miR-922	CLIP-seq
MIRT1137640	hsa-miR-214	CLIP-seq
MIRT1137641	hsa-miR-3140-5p	CLIP-seq
MIRT1137644	hsa-miR-3619-5p	CLIP-seq
MIRT1137646	hsa-miR-4291	CLIP-seq
MIRT1137648	hsa-miR-4539	CLIP-seq
MIRT1137650	hsa-miR-4680-5p	CLIP-seq
MIRT1137652	hsa-miR-4793-5p	CLIP-seq
MIRT1137654	hsa-miR-512-5p	CLIP-seq
MIRT1137656	hsa-miR-646	CLIP-seq
MIRT1137657	hsa-miR-761	CLIP-seq
MIRT1137658	hsa-miR-922	CLIP-seq
MIRT2269085	hsa-miR-31	CLIP-seq
MIRT1137641	hsa-miR-3140-5p	CLIP-seq
MIRT2269086	hsa-miR-3176	CLIP-seq
MIRT2269087	hsa-miR-326	CLIP-seq
MIRT2269088	hsa-miR-330-5p	CLIP-seq
MIRT2269089	hsa-miR-3688-5p	CLIP-seq
MIRT2269090	hsa-miR-3714	CLIP-seq
MIRT2269091	hsa-miR-3908	CLIP-seq
MIRT2269092	hsa-miR-3922-3p	CLIP-seq
MIRT2269093	hsa-miR-3926	CLIP-seq
MIRT2269094	hsa-miR-4267	CLIP-seq
MIRT1137646	hsa-miR-4291	CLIP-seq
MIRT2269095	hsa-miR-4293	CLIP-seq
MIRT1137652	hsa-miR-4793-5p	CLIP-seq
MIRT2269096	hsa-miR-495	CLIP-seq
MIRT2269097	hsa-miR-545	CLIP-seq
MIRT2269098	hsa-miR-548an	CLIP-seq
MIRT2269099	hsa-miR-548p	CLIP-seq
MIRT2269100	hsa-miR-548s	CLIP-seq
MIRT2269101	hsa-miR-885-3p	CLIP-seq
MIRT1137640	hsa-miR-214	CLIP-seq
MIRT1137641	hsa-miR-3140-5p	CLIP-seq
MIRT1137642	hsa-miR-3591-3p	CLIP-seq
MIRT1137644	hsa-miR-3619-5p	CLIP-seq
MIRT1137646	hsa-miR-4291	CLIP-seq
MIRT1137648	hsa-miR-4539	CLIP-seq
MIRT1137649	hsa-miR-4660	CLIP-seq
MIRT1137650	hsa-miR-4680-5p	CLIP-seq
MIRT1137652	hsa-miR-4793-5p	CLIP-seq
MIRT1137654	hsa-miR-512-5p	CLIP-seq
MIRT1137655	hsa-miR-640	CLIP-seq
MIRT1137656	hsa-miR-646	CLIP-seq
MIRT1137657	hsa-miR-761	CLIP-seq
MIRT1137658	hsa-miR-922	CLIP-seq

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Transcription factor	Regulation	Reference
MYCN	Activation	17826980

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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
GO:0000785	Component	Chromatin	TAS	8798650
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	TAS	8175912
GO:0003678	Function	DNA helicase activity	IEA
GO:0003688	Function	DNA replication origin binding	IEA
GO:0003697	Function	Single-stranded DNA binding	IBA
GO:0004386	Function	Helicase activity	IEA
GO:0005515	Function	Protein binding	IPI	11095689, 12740381, 15232106, 15654075, 16189514, 16387653, 16899510, 16902406, 17296731, 19805216, 19819239, 19862764, 20211142, 21044950, 21149733, 22540012, 23764002, 24299456, 24981860, 25036637, 25416956, 26167883, 26496610, 27173435, 28191891, 28514442, 31467278, 32296183, 327
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	16899510, 21383955, 22474384
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	8175912
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005664	Component	Nuclear origin of replication recognition complex	IEA
GO:0005694	Component	Chromosome	IEA
GO:0005730	Component	Nucleolus	IDA	21383955
GO:0005737	Component	Cytoplasm	IDA	26196677
GO:0005829	Component	Cytosol	IDA
GO:0005929	Component	Cilium	IDA
GO:0006260	Process	DNA replication	IDA	22474384
GO:0006260	Process	DNA replication	IEA
GO:0006260	Process	DNA replication	IEA
GO:0006260	Process	DNA replication	TAS	8175912
GO:0006270	Process	DNA replication initiation	IEA
GO:0006270	Process	DNA replication initiation	IMP	16899510
GO:0006334	Process	Nucleosome assembly	IEA
GO:0006915	Process	Apoptotic process	IMP	26196677
GO:0008270	Function	Zinc ion binding	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0017116	Function	Single-stranded DNA helicase activity	IBA
GO:0019899	Function	Enzyme binding	IEA
GO:0030174	Process	Regulation of DNA-templated DNA replication initiation	NAS	30069701
GO:0042393	Function	Histone binding	EXP	25618846
GO:0042393	Function	Histone binding	IEA
GO:0042393	Function	Histone binding	IPI	25618846
GO:0042555	Component	MCM complex	IBA
GO:0042555	Component	MCM complex	IDA	17296731
GO:0042555	Component	MCM complex	IEA
GO:0042555	Component	MCM complex	IPI	22540012
GO:0043138	Function	3'-5' DNA helicase activity	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0071162	Component	CMG complex	IPI	22474384
GO:0071162	Component	CMG complex	ISS
GO:0071353	Process	Cellular response to interleukin-4	IEA
GO:0090102	Process	Cochlea development	IMP	26196677
GO:1902975	Process	Mitotic DNA replication initiation	IBA

MIM	HGNC	e!Ensembl
116945	6944	ENSG00000073111

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

	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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMERS DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT ISOLATED SENSORINEURAL DEAFNESS TYPE DFNA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant nonsyndromic hearing loss 70	Uncertain significance; Likely benign; no classifications from unflagged records; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 70	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MCM2-related disorder	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS OF BILATERAL EARS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

MCM2 (minichromosome maintenance complex component 2)