MCM6 (minichromosome maintenance complex component 6)

Gene

• Entrez ID: 4175
• Gene name: Minichromosome maintenance complex component 6
• Gene symbol: MCM6
• Synonyms (NCBI Gene): MCG40308, Mis5, P105MCM
• Chromosome: 2
• Chromosome location: 2q21.3
• Summary: The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by the MCM proteins is a key component

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016611	hsa-miR-193b-3p	Microarray	20304954
MIRT016611	hsa-miR-193b-3p	Proteomics	21512034
MIRT024027	hsa-miR-1-3p	Proteomics	18668040
MIRT024879	hsa-miR-215-5p	Microarray	19074876
MIRT025545	hsa-miR-34a-5p	Proteomics	21566225
MIRT026808	hsa-miR-192-5p	Microarray	19074876
MIRT035931	hsa-miR-1180-3p	CLASH	23622248
MIRT1137756	hsa-miR-1178	CLIP-seq
MIRT1137757	hsa-miR-1197	CLIP-seq
MIRT1137758	hsa-miR-1302	CLIP-seq
MIRT1137759	hsa-miR-3128	CLIP-seq
MIRT1137760	hsa-miR-329	CLIP-seq
MIRT1137761	hsa-miR-3619-3p	CLIP-seq
MIRT1137762	hsa-miR-362-3p	CLIP-seq
MIRT1137763	hsa-miR-369-3p	CLIP-seq
MIRT1137764	hsa-miR-374a	CLIP-seq
MIRT1137765	hsa-miR-374b	CLIP-seq
MIRT1137766	hsa-miR-4261	CLIP-seq
MIRT1137767	hsa-miR-4298	CLIP-seq
MIRT1137768	hsa-miR-4420	CLIP-seq
MIRT1137769	hsa-miR-4496	CLIP-seq
MIRT1137770	hsa-miR-4679	CLIP-seq
MIRT1137771	hsa-miR-4775	CLIP-seq
MIRT1137772	hsa-miR-4786-3p	CLIP-seq
MIRT1137773	hsa-miR-4789-3p	CLIP-seq
MIRT1137774	hsa-miR-487a	CLIP-seq
MIRT1137775	hsa-miR-548l	CLIP-seq
MIRT1137776	hsa-miR-548n	CLIP-seq
MIRT1137777	hsa-miR-548t	CLIP-seq
MIRT1137778	hsa-miR-553	CLIP-seq
MIRT1137779	hsa-miR-590-3p	CLIP-seq
MIRT1137780	hsa-miR-642b	CLIP-seq
MIRT1137781	hsa-miR-649	CLIP-seq
MIRT1137756	hsa-miR-1178	CLIP-seq
MIRT1137757	hsa-miR-1197	CLIP-seq
MIRT1137773	hsa-miR-4789-3p	CLIP-seq
MIRT2039120	hsa-miR-570	CLIP-seq
MIRT2269164	hsa-miR-149	CLIP-seq
MIRT2269165	hsa-miR-3064-5p	CLIP-seq
MIRT2269166	hsa-miR-4794	CLIP-seq
MIRT2269167	hsa-miR-604	CLIP-seq
MIRT2269168	hsa-miR-647	CLIP-seq
MIRT2269169	hsa-miR-767-3p	CLIP-seq
MIRT2568407	hsa-miR-3180-5p	CLIP-seq
MIRT2568408	hsa-miR-3182	CLIP-seq
MIRT1137761	hsa-miR-3619-3p	CLIP-seq
MIRT2568409	hsa-miR-3690	CLIP-seq
MIRT2568410	hsa-miR-4254	CLIP-seq
MIRT2568411	hsa-miR-4643	CLIP-seq
MIRT2568412	hsa-miR-4762-3p	CLIP-seq
MIRT2568413	hsa-miR-4766-5p	CLIP-seq
MIRT1137773	hsa-miR-4789-3p	CLIP-seq
MIRT2568414	hsa-miR-520a-5p	CLIP-seq
MIRT2568415	hsa-miR-525-5p	CLIP-seq
MIRT2039120	hsa-miR-570	CLIP-seq
MIRT2568416	hsa-miR-578	CLIP-seq
MIRT1137780	hsa-miR-642b	CLIP-seq
MIRT2568417	hsa-miR-671-5p	CLIP-seq
MIRT2568418	hsa-miR-766	CLIP-seq
MIRT1137761	hsa-miR-3619-3p	CLIP-seq
MIRT2568409	hsa-miR-3690	CLIP-seq
MIRT2568410	hsa-miR-4254	CLIP-seq
MIRT2568412	hsa-miR-4762-3p	CLIP-seq
MIRT2568413	hsa-miR-4766-5p	CLIP-seq
MIRT1137773	hsa-miR-4789-3p	CLIP-seq
MIRT2039120	hsa-miR-570	CLIP-seq
MIRT2568416	hsa-miR-578	CLIP-seq
MIRT1137780	hsa-miR-642b	CLIP-seq
MIRT2568417	hsa-miR-671-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
MYCN	Activation	17826980

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000727	Process	Double-strand break repair via break-induced replication	IBA
GO:0000781	Component	Chromosome, telomeric region	HDA	19135898
GO:0003677	Function	DNA binding	IEA
GO:0003678	Function	DNA helicase activity	IDA	9305914, 25661590
GO:0003678	Function	DNA helicase activity	IEA
GO:0003678	Function	DNA helicase activity	IEA
GO:0003697	Function	Single-stranded DNA binding	IDA	25661590
GO:0003697	Function	Single-stranded DNA binding	IEA
GO:0003697	Function	Single-stranded DNA binding	ISS
GO:0004386	Function	Helicase activity	IEA
GO:0005515	Function	Protein binding	IPI	11095689, 15232106, 16189514, 16438930, 16899510, 16902406, 17296731, 17955473, 20202939, 20211142, 21653829, 22190034, 22540012, 23764002, 24299456, 25036637, 25416956, 26167883, 26496610, 28514442, 29290612, 29426014, 33654309, 33961781, 35271311
GO:0005524	Function	ATP binding	IEA
GO:0005524	Function	ATP binding	NAS	9286856
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	16899510, 22474384
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	9286856
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005829	Component	Cytosol	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	NAS	9286856
GO:0006270	Process	DNA replication initiation	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0030174	Process	Regulation of DNA-templated DNA replication initiation	NAS	30069701
GO:0042555	Component	MCM complex	IBA
GO:0042555	Component	MCM complex	IDA	17296731, 25661590
GO:0042555	Component	MCM complex	IEA
GO:0042555	Component	MCM complex	IPI	22540012
GO:0042802	Function	Identical protein binding	IPI	15232106, 16189514
GO:0071162	Component	CMG complex	IPI	22474384
GO:0071162	Component	CMG complex	ISS
GO:1902969	Process	Mitotic DNA replication	IBA
GO:1990518	Function	Single-stranded 3'-5' DNA helicase activity	IBA

Other IDs

• MIM: 601806
• HGNC: 6949
• e!Ensembl: ENSG00000076003

Protein

• UniProt ID: Q14566
• Protein name: DNA replication licensing factor MCM6 (EC 3.6.4.12) (p105MCM)
• 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: 2KLQ, 2LE8, 6XTX, 6XTY, 7PFO, 7PLO, 7W1Y, 7W68, 8B9D, 8RWV, 8S09, 8S0A, 8S0B, 8S0D, 8S0E, 8S0F, 8W0E, 8W0F, 8W0G, 8W0I, 9CAQ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14551	MCM_N	27 → 127	MCM N-terminal domain	Domain
  PF17207	MCM_OB	122 → 252	MCM OB domain	Domain
  PF00493	MCM	333 → 556	MCM P-loop domain	Domain
  PF17855	MCM_lid	570 → 656	MCM AAA-lid domain	Domain
  PF18263	MCM6_C	711 → 819	MCM6 C-terminal winged-helix domain	Domain

• Sequence:

  MDLAAAAEPGAGSQHLEVRDEVAEKCQKLFLDFLEEFQSSDGEIKYLQLAEELIRPERNT
  LVVSFVDLEQFNQQLSTTIQEEFYRVYPYLCRALKTFVKDRKEIPLAKDFYVAFQDLPTR
  HKIRELTSSRIGLLTRISGQVVRTHPVHPELVSGTFLCLDCQTVIRDVEQQFKYTQPNIC
  RNPVCANRRRFLLDTNKSRFVDFQKVRIQETQAELPRGSIPRSLEVILRAEAVESAQAGD
  KCDFTGTLIVVPDVSKLSTPGARAETNSRVSGVDGYETEGIRGLRALGVRDLSYRLVFLA
  CCVAPTNPRFGGKELRDEEQTAESIKNQMTVKEWEKVFEMSQDKNLYHNLCTSLFPTIHG
  NDEVKRGVLLMLFGGVPKTTGEGTSLRGDINVCIVGDPSTAKSQFLKHVEEFSPRAVYTS
  GKASSAAGLTAAVVRDEESHEFVIEAGALMLADNGVCCIDEFDKMDVRDQVAIHEAMEQQ
  TISITKAGVKATLNARTSILAAANPISGHYDRSKSLKQNINLSAPIMSRFDLFFILVDEC
  NEVTDYAIARRIVDLHSRIEESIDRVYSLDDIRRYLLFARQFKPKISKESEDFIVEQYKH
  LRQRDGSGVTKSSWRITVRQLESMIRLSEAMARMHCCDEVQPKHVKEAFRLLNKSIIRVE
  TPDVNLDQEEEIQMEVDEGAGGINGHADSPAPVNGINGYNEDINQESAPKASLRLGFSEY
  CRISNLIVLHLRKVEEEEDESALKRSELVNWYLKEIESEIDSEEELINKKRIIEKVIHRL
  THYDHVLIELTQAGLKGSTEGSESYEEDPYLVVNPNYLLED

• Sequence length: 821

Pathways

KEGG:

DNA replication
Cell cycle

Reactome:

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

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Cervical cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LACTASE PERSISTENCE	Uncertain significance; association; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MCM6-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MORBID OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpersistence of intestinal lactase	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anaplastic Oligodendroglioma	Anaplastic Oligodendroglioma	BEFREE	31561286		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	37198333	Associate	★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom syndrome	Pubtator	34370039	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	39275317	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	31476594, 31758680		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	31476594, 31758680, 32830194, 35125121	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	37664925	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	20648010, 37664925, 39766782	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	32830194	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	29357919, 32082966, 32964028	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	32403044, 35720029	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33402477	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	36445337	Stimulate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30937307, 35496037	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	20447925		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	19453809		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	37198333	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	33577048	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	33577048, 39275317	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28225053		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	28736931		★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine system disease	Pubtator	37198333	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	37198333	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	32583000	Associate	★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	31707040		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	31707040		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	29753008		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	29753008		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	37198333	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	31476594, 35125121	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	29202546	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	33577048	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	20103649	Associate	★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	29912753		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable bowel syndrome	Pubtator	29912753	Associate	★☆☆☆☆ Found in Text Mining only
Lactase Deficiency Congenital	Congenital lactase deficiency	Pubtator	20015952, 23029545, 29063188, 30689919, 37354976	Associate	★☆☆☆☆ Found in Text Mining only
Lactose Intolerance	Lactose Intolerance	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lactose Intolerance, Adult Type	Lactose Intolerance	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29463213, 30026832		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	25045014, 35360518	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	37664925	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	16189522	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	31476594, 31758680		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	16189522		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	19877719		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	19877719	Stimulate	★☆☆☆☆ Found in Text Mining only
Merkel cell carcinoma	Merkel cell carcinoma	BEFREE	19453809		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	37198333	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	28225053		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16595783, 29151950, 29463213		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	30689919	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	24348903	Associate	★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Lactase non-persistence in adulthood	Lactase Non-Persistence	Orphanet			★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	29151950		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	21193851, 33577048	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
oligodendroglioma	Oligodendroglioma	BEFREE	31561286		★☆☆☆☆ Found in Text Mining only
Oligodendroglioma	Oligodendroglioma	Pubtator	31561286	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	28225053		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	39275317	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	27695057	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	20447925		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	28472871		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	33217867	Associate	★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	25045014	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	37864896	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	31476594, 33668040, 38639528	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	18414413	Associate	★☆☆☆☆ Found in Text Mining only
Urogenital Abnormalities	Urogenital abnormalities	Pubtator	37198333	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	30150654	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	23874974, 30150654	Associate	★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	31561286		★☆☆☆☆ Found in Text Mining only