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 MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other... See more...

Aliases for MCM4 Gene

Aliases for MCM4 Gene

  • Minichromosome Maintenance Complex Component 4 2 3 5
  • DNA Replication Licensing Factor MCM4 2 3 4
  • P1-CDC21 3 4
  • HCdc21 2 3
  • CDC21 3 4
  • CDC54 2 3
  • MCM4 Minichromosome Maintenance Deficient 4 (S. Cerevisiae) 2
  • Homolog Of S. Pombe Cell Devision Cycle 21 3
  • Minichromosome Maintenance Deficient 4 3
  • CDC21 Homolog 4
  • EC 3.6.4.12 4
  • P1-Cdc21 2
  • MGC33310 2
  • IMD54 3
  • NKGCD 3
  • NKCD 3
  • MCM4 5

External Ids for MCM4 Gene

Previous HGNC Symbols for MCM4 Gene

  • CDC21

Previous GeneCards Identifiers for MCM4 Gene

  • GC08P048877
  • GC08P048596
  • GC08P048923
  • GC08P049036
  • GC08P048873
  • GC08P044336

Summaries for MCM4 Gene

Entrez Gene Summary for MCM4 Gene

  • 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 MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. The MCM complex consisting of this protein and MCM2, 6 and 7 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme. The phosphorylation of this protein by CDC2 kinase reduces the DNA helicase activity and chromatin binding of the MCM complex. This gene is mapped to a region on the chromosome 8 head-to-head next to the PRKDC/DNA-PK, a DNA-activated protein kinase involved in the repair of DNA double-strand breaks. Alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008]

GeneCards Summary for MCM4 Gene

MCM4 (Minichromosome Maintenance Complex Component 4) is a Protein Coding gene. Diseases associated with MCM4 include Immunodeficiency 54 and Immunodeficiency 20. Among its related pathways are Cell Cycle, Mitotic and CDK-mediated phosphorylation and removal of Cdc6. Gene Ontology (GO) annotations related to this gene include ATPase activity and ATP-dependent DNA helicase activity. An important paralog of this gene is MCM7.

UniProtKB/Swiss-Prot Summary for MCM4 Gene

  • 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.

Gene Wiki entry for MCM4 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MCM4 Gene

Genomics for MCM4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MCM4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J047958 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +0.2 237 4.8 BCLAF1 SP1 ZNF207 IKZF1 MYC ZNF600 SIX5 JUND ZNF580 ZNF592 PRKDC HSALNG0065089 HSALNG0065090 MCM4 SPIDR UBE2V2 RF00017-6472
GH08J047351 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11 -604.3 -604344 8.2 MYC ZNF600 JUND CEBPA ATF3 NFIC YY1 CEBPB HOMEZ MAX CEBPD PRKDC SPIDR MCM4 ENSG00000253330 RPL10AP2 piR-39341-383 HSALNG0065063 LOC107986940
GH08J047997 Enhancer 1.2 FANTOM5 Ensembl ENCODE 11.8 +38.7 38735 3.8 ZNF654 MYC IKZF1 CEBPA CTCF HES1 FEZF1 ZNF341 TAL1 YY1 HSALNG0065094 UBE2V2 TCONS_00068220 piR-37538 piR-56133-215 PRKDC MCM4 ENSG00000255366 EFCAB1
GH08J047376 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 10.9 -578.7 -578663 9.3 CEBPA YY1 CEBPB SIX4 ZNF217 EP300 FOXA2 CTBP1 SMAD4 RXRA HSALNG0065063 SPIDR MCM4 RPL10AP2 LOC107986940 CEBPD
GH08J047825 Enhancer 0.8 Ensembl ENCODE 15.8 -133.8 -133822 1.5 ZNF600 ZIC2 ZNF341 SIN3A SP2 ZBTB40 ZBTB33 ZBTB8A ZSCAN4 MNT MCM4 PRKDC MK280607-115 piR-38352-536 CEBPD RF00017-6472
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MCM4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MCM4

Top Transcription factor binding sites by QIAGEN in the MCM4 gene promoter:
  • C/EBPbeta
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4
  • p53
  • POU3F2 (N-Oct-5b)

Genomic Locations for MCM4 Gene

Latest Assembly
chr8:47,960,185-47,978,160
(GRCh38/hg38)
Size:
17,976 bases
Orientation:
Plus strand

Previous Assembly
chr8:48,873,501-48,890,720
(GRCh37/hg19 by Entrez Gene)
Size:
17,220 bases
Orientation:
Plus strand

chr8:48,872,745-48,890,720
(GRCh37/hg19 by Ensembl)
Size:
17,976 bases
Orientation:
Plus strand

Genomic View for MCM4 Gene

Genes around MCM4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MCM4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MCM4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MCM4 Gene

Proteins for MCM4 Gene

  • Protein details for MCM4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P33991-MCM4_HUMAN
    Recommended name:
    DNA replication licensing factor MCM4
    Protein Accession:
    P33991
    Secondary Accessions:
    • Q8NEH1
    • Q99658

    Protein attributes for MCM4 Gene

    Size:
    863 amino acids
    Molecular mass:
    96558 Da
    Quaternary structure:
    • Component of the MCM2-7 complex (PubMed:16899510, PubMed:9305914). The complex forms a toroidal hexameric ring with the proposed subunit order MCM2-MCM6-MCM4-MCM7-MCM3-MCM5 (PubMed:16899510, PubMed:9305914). Interacts with MCMBP (PubMed:17296731). Component of the CMG helicase complex, composed of the MCM2-7 complex, the GINS complex and CDC45 (By similarity).
    Miscellaneous:
    • Early fractionation of eukaryotic MCM proteins yielded a variety of dimeric, trimeric and tetrameric complexes with unclear biological significance. Specifically a MCM467 subcomplex is shown to have in vitro helicase activity which is inhibited by the MCM2 subunit. The MCM2-7 hexamer is the proposed physiological active complex.

    Three dimensional structures from OCA and Proteopedia for MCM4 Gene

neXtProt entry for MCM4 Gene

Post-translational modifications for MCM4 Gene

  • Sumoylated; SUMO2 modified in response to stress caused by inhibition of proteasome activity (in vitro).
  • Ubiquitination at Lys123, Lys163, Lys179, Lys216, Lys220, Lys349, Lys381, Lys439, Lys444, Lys450, Lys536, Lys600, Lys628, Lys752, Lys762, Lys770, Lys814, Lys819, and Lys858
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MCM4 Gene

Domains & Families for MCM4 Gene

Gene Families for MCM4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for MCM4 Gene

InterPro:
Blocks:
  • MCM family
  • Mini-chromosome maintenance (MCM) protein 4 signature

Suggested Antigen Peptide Sequences for MCM4 Gene

GenScript: Design optimal peptide antigens:
  • Minichromosome maintenance protein 4 (A4FS09_HUMAN)
  • P1-CDC21 (MCM4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P33991

UniProtKB/Swiss-Prot:

MCM4_HUMAN :
  • Belongs to the MCM family.
Family:
  • Belongs to the MCM family.
genes like me logo Genes that share domains with MCM4: view

Function for MCM4 Gene

Molecular function for MCM4 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.12;.
GENATLAS Biochemistry:
cell division cycle 21(CDC21) homolog,involved in an early step of DNA replication,participating in the cell cycle control of genome duplication

Enzyme Numbers (IUBMB) for MCM4 Gene

Phenotypes From GWAS Catalog for MCM4 Gene

Gene Ontology (GO) - Molecular Function for MCM4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003677 DNA binding IEA --
GO:0003678 contributes_to DNA helicase activity IEA,IDA 9305914
GO:0003688 DNA replication origin binding IBA 21873635
GO:0003697 single-stranded DNA binding IBA 21873635
genes like me logo Genes that share ontologies with MCM4: view
genes like me logo Genes that share phenotypes with MCM4: view

Human Phenotype Ontology for MCM4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MCM4 Gene

MGI Knock Outs for MCM4:
  • Mcm4 Mcm4<tm1b(KOMP)Mbp>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MCM4

No data available for Transcription Factor Targets and HOMER Transcription for MCM4 Gene

Localization for MCM4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MCM4 Gene

Nucleus. Chromosome. Note=Associated with chromatin before the formation of nuclei and detaches from it as DNA replication progresses. {ECO:0000250 UniProtKB:P30664}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MCM4 gene
Compartment Confidence
nucleus 5
cytosol 3
cytoskeleton 2
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MCM4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000781 chromosome, telomeric region HDA 19135898
GO:0005634 nucleus IEA,NAS 8265339
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome IEA --
GO:0016020 membrane HDA 19946888
genes like me logo Genes that share ontologies with MCM4: view

Pathways & Interactions for MCM4 Gene

genes like me logo Genes that share pathways with MCM4: view

Pathways by source for MCM4 Gene

1 GeneGo (Thomson Reuters) pathway for MCM4 Gene
  • Cell cycle Start of DNA replication in early S phase
1 Qiagen pathway for MCM4 Gene
  • Cell Cycle Control of Chromosomal Replication
1 Cell Signaling Technology pathway for MCM4 Gene

SIGNOR curated interactions for MCM4 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for MCM4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000082 G1/S transition of mitotic cell cycle TAS --
GO:0000727 double-strand break repair via break-induced replication IBA 21873635
GO:0006260 DNA replication IEA,TAS --
GO:0006267 pre-replicative complex assembly involved in nuclear cell cycle DNA replication IBA 21873635
GO:0006268 DNA unwinding involved in DNA replication IBA 21873635
genes like me logo Genes that share ontologies with MCM4: view

Drugs & Compounds for MCM4 Gene

(4) Drugs for MCM4 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Phosphate Experimental Pharma 0
ATP Investigational Nutra 0

(1) Additional Compounds for MCM4 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
58-64-0
genes like me logo Genes that share compounds with MCM4: view

Transcripts for MCM4 Gene

mRNA/cDNA for MCM4 Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
24 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MCM4

Alternative Splicing Database (ASD) splice patterns (SP) for MCM4 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b · 5c · 5d ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b · 13c ^ 14a · 14b ·
SP1: - - -
SP2: - - -
SP3: - - -
SP4:
SP5:
SP6: - - - - -
SP7: -
SP8: - -
SP9: - -
SP10:
SP11:
SP12:
SP13:

ExUns: 14c ^ 15 ^ 16 ^ 17 ^ 18a · 18b · 18c ^ 19a · 19b ^ 20a · 20b
SP1: - -
SP2: - -
SP3:
SP4:
SP5: - - -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for MCM4 Gene

GeneLoc Exon Structure for
MCM4

Expression for MCM4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MCM4 Gene

Protein differential expression in normal tissues from HIPED for MCM4 Gene

This gene is overexpressed in Liver (41.9) and Fetal ovary (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MCM4 Gene



Protein tissue co-expression partners for MCM4 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MCM4

SOURCE GeneReport for Unigene cluster for MCM4 Gene:

Hs.460184

Evidence on tissue expression from TISSUES for MCM4 Gene

  • Nervous system(4.3)
  • Skin(3.3)
  • Intestine(3.1)
  • Liver(2.5)
  • Lymph node(2.4)
  • Bone marrow(2.4)
  • Kidney(2.2)
  • Adrenal gland(2.2)
  • Blood(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MCM4 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • ear
  • head
  • skull
Thorax:
  • esophagus
  • heart
Abdomen:
  • adrenal gland
  • intestine
  • large intestine
  • liver
  • small intestine
  • spleen
  • stomach
Pelvis:
  • ovary
  • penis
  • testicle
  • uterus
General:
  • blood
  • blood vessel
  • lymph node
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with MCM4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MCM4 Gene

Orthologs for MCM4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MCM4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MCM4 29 30
  • 99.69 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MCM4 30
  • 94 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MCM4 30
  • 92 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia MCM4 29 30
  • 89.38 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Mcm4 29 16 30
  • 88.09 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mcm4 29
  • 87.86 (n)
Cow
(Bos Taurus)
Mammalia MCM4 29 30
  • 85.45 (n)
OneToMany
-- 30
  • 49 (a)
OneToMany
Chicken
(Gallus gallus)
Aves MCM4 29 30
  • 77.3 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MCM4 30
  • 84 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mcm4 29
  • 75.28 (n)
Str.801 29
African clawed frog
(Xenopus laevis)
Amphibia mcm4-A 29
Zebrafish
(Danio rerio)
Actinopterygii mcm4 29 30
  • 73.61 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3421 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004956 29
  • 60.57 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta dpa 29 30 31
  • 60.1 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea mcm-4 29 30 31
  • 55.53 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C17512g 29
  • 52.68 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MCM4 29 30 32
  • 52.31 (n)
OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ADL026W 29
  • 51.9 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons MCM4 29
  • 53.31 (n)
Barley
(Hordeum vulgare)
Liliopsida Hv.3274 29
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 59 (a)
OneToOne
Bread mold
(Neurospora crassa)
Ascomycetes NCU02539 29
  • 54.28 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mcm4 29
  • 53.49 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.744 29
Species where no ortholog for MCM4 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for MCM4 Gene

ENSEMBL:
Gene Tree for MCM4 (if available)
TreeFam:
Gene Tree for MCM4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MCM4: view image
Alliance of Genome Resources:
Additional Orthologs for MCM4

Paralogs for MCM4 Gene

Paralogs for MCM4 Gene

(4) SIMAP similar genes for MCM4 Gene using alignment to 7 proteins:

  • MCM4_HUMAN
  • A4FS09_HUMAN
  • E5RFJ8_HUMAN
  • E5RFR3_HUMAN
  • E5RG31_HUMAN
  • E5RG53_HUMAN
  • E5RHP5_HUMAN
genes like me logo Genes that share paralogs with MCM4: view

Variants for MCM4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MCM4 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
1010007 Uncertain Significance: not provided 47,973,048(+) G/T
NM_182746.3(MCM4):c.2120G>T (p.Ser707Ile)
MISSENSE
1013830 Uncertain Significance: not provided 47,970,860(+) C/T
NM_182746.3(MCM4):c.1784C>T (p.Thr595Ile)
MISSENSE
1028961 Uncertain Significance: Natural killer cell and glucocorticoid deficiency with DNA repair defect 47,962,128(+) G/A
NM_182746.3(MCM4):c.311G>A (p.Arg104Lys)
MISSENSE
1033041 Pathogenic: Natural killer cell and glucocorticoid deficiency with DNA repair defect 47,967,364(+) G/A
NM_182746.3(MCM4):c.1054-1G>A
SPLICE_ACCEPTOR
1033042 Uncertain Significance: Natural killer cell and glucocorticoid deficiency with DNA repair defect 47,970,737(+) G/A
NM_182746.3(MCM4):c.1661G>A (p.Arg554Lys)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MCM4 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MCM4 Gene

Variant ID Type Subtype PubMed ID
esv2759611 CNV loss 17122850
esv3617106 CNV loss 21293372
nsv1032750 CNV loss 25217958
nsv831309 CNV loss 17160897

Variation tolerance for MCM4 Gene

Residual Variation Intolerance Score: 16.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.23; 40.16% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MCM4 Gene

Human Gene Mutation Database (HGMD)
MCM4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MCM4
Leiden Open Variation Database (LOVD)
MCM4

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MCM4 Gene

Disorders for MCM4 Gene

MalaCards: The human disease database

(12) MalaCards diseases for MCM4 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
immunodeficiency 54
  • imd54
immunodeficiency 20
  • imd20
breast giant fibroadenoma
  • giant fibroadenoma
nk cell deficiency
  • nk cell defects
familial glucocorticoid deficiency
  • glucocorticoid deficiency, familial
- elite association - COSMIC cancer census association via MalaCards
Search MCM4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MCM4_HUMAN
  • Immunodeficiency 54 (IMD54) [MIM:609981]: An autosomal recessive disorder characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of natural killer cells, and recurrent viral infections, most often affecting the respiratory tract and leading to respiratory failure. Affected individuals also have adrenal insufficiency requiring corticosteroid replacement therapy and may have an increased susceptibility to cancer. {ECO:0000269 PubMed:22354167, ECO:0000269 PubMed:22354170, ECO:0000269 PubMed:22499342}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for MCM4

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MCM4: view

No data available for Genatlas for MCM4 Gene

Publications for MCM4 Gene

  1. A human homologue of the yeast replication protein Cdc21. Interactions with other Mcm proteins. (PMID: 7601140) Musahl C … Knippers R (European journal of biochemistry 1995) 2 3 4 22
  2. Recessive mutations in MCM4/PRKDC cause a novel syndrome involving a primary immunodeficiency and a disorder of DNA repair. (PMID: 22499342) Casey JP … Ennis S (Journal of medical genetics 2012) 3 4 72
  3. Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency. (PMID: 22354167) Gineau L … Jouanguy E (The Journal of clinical investigation 2012) 3 4 72
  4. MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans. (PMID: 22354170) Hughes CR … Metherell LA (The Journal of clinical investigation 2012) 3 4 72
  5. Identification and characterization of a novel component of the human minichromosome maintenance complex. (PMID: 17296731) Sakwe AM … Frappier L (Molecular and cellular biology 2007) 3 4 22

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