Gene Gene information from NCBI Gene database.
Entrez ID 4176
Gene name Minichromosome maintenance complex component 7
Gene symbol MCM7
Synonyms (NCBI Gene)
CDC47MCM2P1.1-MCM3P1CDC47P85MCMPNAS146PPP1R104
Chromosome 7
Chromosome location 7q22.1
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 miRNA information provided by mirtarbase database.
388
miRTarBase ID miRNA Experiments Reference
MIRT016521 hsa-miR-193b-3p Proteomics 21512034
MIRT016521 hsa-miR-193b-3p Microarray 20304954
MIRT022853 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT023890 hsa-miR-1-3p Proteomics 18668040
MIRT025469 hsa-miR-34a-5p Proteomics 21566225
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
Transcription factor Regulation Reference
MSC Repression 15213307
MYCN Activation 17826980
MYCN Unknown 15668898
TP53 Repression 15899946
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
46
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:0000785 Component Chromatin TAS 8798650
GO:0003677 Function DNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600592 6950 ENSG00000166508
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P33993
Protein name DNA replication licensing factor MCM7 (EC 3.6.4.12) (CDC47 homolog) (P1.1-MCM3)
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 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 10 140 MCM N-terminal domain Domain
PF17207 MCM_OB 148 281 MCM OB domain Domain
PF00493 MCM 320 541 MCM P-loop domain Domain
PF17855 MCM_lid 557 641 MCM AAA-lid domain Domain
Sequence
Sequence length 719
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Meier-Gorlin syndrome Pathogenic rs778583017, rs76705400, rs758105856, rs1054083917 RCV001527364
RCV001527379
RCV001527378
RCV001527363
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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.
Phenotype Name Clinical Significance Source Evidence Score
ANISOMETROPIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTIGMATISM Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY Disgenet, Orphanet
Disgenet, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EAR, PATELLA, SHORT STATURE SYNDROME Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Actinic keratosis Actinic keratosis BEFREE 27299186
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 29768346
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 31327484
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 17940502
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 19077563
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31545501
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 29596435
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma LHGDN 16722928, 18465232
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 19077563, 28302537, 28432562
★☆☆☆☆
Found in Text Mining only
Adrenocortical Carcinoma Adrenocortical carcinoma Pubtator 19031940 Stimulate
★☆☆☆☆
Found in Text Mining only