GeneBe

MCM7

minichromosome maintenance complex component 7, the group of minichromosome maintenance 2-7 complex|Protein phosphatase 1 regulatory subunits|MCM family|MicroRNA protein coding host genes

Basic information

Region (hg38): 7:100092233-100101940

Previous symbols: [ "MCM2" ]

Links

ENSG00000166508 ∙ NCBI:4176 ∙ OMIM:600592 ∙ HGNC:6950 ∙ Uniprot:P33993 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MCM7 gene.

  • not_specified (134 variants)
  • not_provided (9 variants)
  • Meier-Gorlin_syndrome (4 variants)
  • MCM7-related_disorder (2 variants)
  • Microcephaly (2 variants)
  • Hypermetropia (2 variants)
  • Trichiasis (2 variants)
  • Anisometropia (2 variants)
  • Deeply_set_eye (2 variants)
  • Progeroid_facial_appearance (2 variants)
  • Psychomotor_retardation (2 variants)
  • Microphthalmia (2 variants)
  • Astigmatism (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MCM7 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000005916.5. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
2
clinvar
4
clinvar
 6
missense
2
clinvar
130
clinvar
4
clinvar
1
clinvar
 137
nonsense
3
clinvar
 3
start loss
0
frameshift
1
clinvar
 1
splice donor/acceptor (+/-2bp)
0
Total 5 0 131 6 5

Highest pathogenic variant AF is 0.0000328342

Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
MCM7protein_codingprotein_codingENST00000303887 159213
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
1.94e-240.00072112559701511257480.000601
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.7234984551.100.00003014647
Missense in Polyphen136167.60.811441706
Synonymous-3.412221661.340.000009731465
Loss of Function0.1583738.10.9720.00000211406

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0008660.000865
Ashkenazi Jewish0.002180.00218
East Asian0.0002720.000272
Finnish0.0001850.000185
European (Non-Finnish)0.0005840.000580
Middle Eastern0.0002720.000272
South Asian0.0008500.000850
Other0.0008160.000815

dbNSFP

Source: dbNSFP

Function
FUNCTION: Acts as component of the MCM2-7 complex (MCM complex) which is the putative replicative helicase essential for 'once per cell cycle' DNA replication initiation and elongation in eukaryotic cells. 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. Required for S-phase checkpoint activation upon UV-induced damage. {ECO:0000269|PubMed:15210935, ECO:0000269|PubMed:15538388, ECO:0000269|PubMed:9305914}.;
Pathway
Cell cycle - Homo sapiens (human);DNA replication - Homo sapiens (human);Cell Cycle;miRNA Regulation of DNA Damage Response;Retinoblastoma (RB) in Cancer;G1 to S cell cycle control;DNA Replication;cdk regulation of dna replication;Activation of ATR in response to replication stress;G2/M Checkpoints;Cell Cycle Checkpoints;Activation of the pre-replicative complex;Unwinding of DNA;Mitotic G1-G1/S phases;Orc1 removal from chromatin;DNA Replication;Switching of origins to a post-replicative state;DNA strand elongation;Synthesis of DNA;S Phase;G1/S Transition;Assembly of the pre-replicative complex;DNA Replication Pre-Initiation;M/G1 Transition;Cell Cycle;TNFalpha;Cell Cycle, Mitotic;ATR signaling pathway (Consensus)

Recessive Scores

pRec
0.414

Intolerance Scores

loftool
0.980
rvis_EVS
-1.26
rvis_percentile_EVS
5.31

Haploinsufficiency Scores

pHI
0.936
hipred
Y
hipred_score
0.779
ghis
0.698

Essentials

essential_gene_CRISPR
E
essential_gene_CRISPR2
E
essential_gene_gene_trap
E
gene_indispensability_pred
E
gene_indispensability_score
0.994

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Mcm7
Phenotype
cellular phenotype; growth/size/body region phenotype; hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span);

Zebrafish Information Network

Gene name
mcm7
Affected structure
anatomical system
Phenotype tag
abnormal
Phenotype quality
quality

Gene ontology

Biological process
G1/S transition of mitotic cell cycle;DNA replication;DNA unwinding involved in DNA replication;DNA replication initiation;cellular response to DNA damage stimulus;cell population proliferation;regulation of phosphorylation;response to drug;cellular response to epidermal growth factor stimulus;cellular response to xenobiotic stimulus
Cellular component
nuclear chromosome, telomeric region;chromatin;nucleus;nucleoplasm;nucleolus;cytosol;membrane;MCM complex
Molecular function
DNA binding;single-stranded DNA binding;ATP-dependent DNA helicase activity;protein binding;ATP binding