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 mini-chromosome maintenance proteins is a key component of the pre-replication complex and may be involved in the formation of replication forks and in the r... See more...

Aliases for MCM8 Gene

Aliases for MCM8 Gene

  • Minichromosome Maintenance 8 Homologous Recombination Repair Factor 2 3 5
  • Minichromosome Maintenance Complex Component 8 2 3
  • DNA Helicase MCM8 3 4
  • DJ967N21.5 2 3
  • C20orf154 3 4
  • MCM8 Minichromosome Maintenance Deficient 8 3
  • DNA Replication Licensing Factor MCM8 3
  • Chromosome 20 Open Reading Frame 154 2
  • Minichromosome Maintenance 8 4
  • REC Homolog (Drosophila) 2
  • REC Homolog 3
  • EC 3.6.4.12 4
  • MGC119522 2
  • MGC119523 2
  • MGC12866 2
  • MGC4816 2
  • POF10 3
  • MCM8 5
  • REC 2

External Ids for MCM8 Gene

Previous HGNC Symbols for MCM8 Gene

  • C20orf154

Previous GeneCards Identifiers for MCM8 Gene

  • GC20P005879
  • GC20P005926
  • GC20P005956
  • GC20P005960

Summaries for MCM8 Gene

Entrez Gene Summary for MCM8 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 the mini-chromosome maintenance proteins is a key component of the pre-replication complex and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein contains the central domain that is conserved among the mini-chromosome maintenance proteins. The encoded protein may interact with other mini-chromosome maintenance proteins and play a role in DNA replication. This gene may be associated with length of reproductive lifespan and menopause. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013]

GeneCards Summary for MCM8 Gene

MCM8 (Minichromosome Maintenance 8 Homologous Recombination Repair Factor) is a Protein Coding gene. Diseases associated with MCM8 include Premature Ovarian Failure 10 and Amenorrhea. Among its related pathways are Regulation of activated PAK-2p34 by proteasome mediated degradation and E2F mediated regulation of DNA replication. Gene Ontology (GO) annotations related to this gene include ATPase activity and magnesium chelatase activity. An important paralog of this gene is ENSG00000286235.

UniProtKB/Swiss-Prot Summary for MCM8 Gene

  • Component of the MCM8-MCM9 complex, a complex involved in the repair of double-stranded DNA breaks (DBSs) and DNA interstrand cross-links (ICLs) by homologous recombination (HR) (PubMed:23401855). Required for DNA resection by the MRE11-RAD50-NBN/NBS1 (MRN) complex by recruiting the MRN complex to the repair site and by promoting the complex nuclease activity (PubMed:26215093). Probably by regulating the localization of the MNR complex, indirectly regulates the recruitment of downstream effector RAD51 to DNA damage sites including DBSs and ICLs (PubMed:23401855). The MCM8-MCM9 complex is dispensable for DNA replication and S phase progression (PubMed:23401855). However, may play a non-essential for DNA replication: may be involved in the activation of the prereplicative complex (pre-RC) during G(1) phase by recruiting CDC6 to the origin recognition complex (ORC) (PubMed:15684404). Probably by regulating HR, plays a key role during gametogenesis (By similarity). Stabilizes MCM9 protein (PubMed:23401855, PubMed:26215093).

Gene Wiki entry for MCM8 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MCM8 Gene

Genomics for MCM8 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MCM8 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
GH20J005949 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 625.8 +0.0 49 3.4 SP1 GATAD2A ZNF629 REST TFE3 IKZF1 NFKBIZ ZNF692 POLR2A RCOR2 MCM8 ENSG00000286235 RF00017-3515 TRMT6 lnc-LRRN4-3
GH20J006005 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 18.1 +56.4 56361 4.4 HNRNPL CREB1 GATAD2A PRDM10 REST TFE3 RFX1 SOX13 IKZF1 NFKBIZ CRLS1 MCM8-AS1 MCM8 PCNA RF00017-3517 LRRN4 ENSG00000286235
GH20J005996 Enhancer 0.8 Ensembl ENCODE 45.4 +46.6 46649 3 IKZF2 TRIM22 EED RELB RUNX3 BCLAF1 NBN IKZF1 POLR2A EBF1 MCM8 TRMT6 CHGB ENSG00000275632 CRLS1 MCM8-AS1 piR-56497-089 ENSG00000286235
GH20J005979 Enhancer 0.6 ENCODE 45 +30.2 30249 3.1 SP1 HMBOX1 POLR2A CHD4 HNF4A RXRA MAFK HLF ZNF580 NR2F6 MCM8 CRLS1 TRMT6 CHGB piR-56497-089 ENSG00000231961 lnc-CHGB-1 ENSG00000286235
GH20J005918 Enhancer 1 FANTOM5 Ensembl ENCODE 25.5 -31.1 -31071 2.6 GABPA JUND MBD1 FOSL1 MAX ZFHX2 FOSL2 POLR2A SSRP1 JUN MCM8 TRMT6 RNU1-55P GPCPD1 CHGB lnc-TRMT6-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MCM8 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MCM8

Top Transcription factor binding sites by QIAGEN in the MCM8 gene promoter:
  • AML1a
  • c-Myb
  • HOXA3
  • p53
  • POU3F1
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • RFX1

Genomic Locations for MCM8 Gene

Genomic Locations for MCM8 Gene
chr20:5,950,652-6,000,941
(GRCh38/hg38)
Size:
50,290 bases
Orientation:
Plus strand
chr20:5,931,298-5,975,852
(GRCh37/hg19)
Size:
44,555 bases
Orientation:
Plus strand

Genomic View for MCM8 Gene

Genes around MCM8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MCM8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MCM8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MCM8 Gene

Proteins for MCM8 Gene

  • Protein details for MCM8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UJA3-MCM8_HUMAN
    Recommended name:
    DNA helicase MCM8
    Protein Accession:
    Q9UJA3
    Secondary Accessions:
    • B2RBG7
    • D3DW08
    • E7EQU7
    • Q495R4
    • Q495R6
    • Q495R7
    • Q86US4
    • Q969I5

    Protein attributes for MCM8 Gene

    Size:
    840 amino acids
    Molecular mass:
    93697 Da
    Quaternary structure:
    • Component of the MCM8-MCM9 complex, which forms a hexamer composed of MCM8 and MCM9 (PubMed:23401855, PubMed:26300262). Interacts with the DNA mismatch repair (MMR) complex composed at least of MSH2, MSH3, MSH6, PMS1 and MLH1 (PubMed:26300262). Interacts with RAD51; the interaction recruits RAD51 to DNA damage sites (PubMed:23401855). Interacts with the MRN complex composed of MRE11, RAD50 and NBN/NBS1 (PubMed:26215093). Interacts with CDC6 and ORC2 (PubMed:15684404). Interacts with HROB; the interaction recruits the MCM8-MCM9 complex to DNA damage sites (PubMed:31467087).
    SequenceCaution:
    • Sequence=BAB55260.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 3]: No experimental confirmation available. According to PubMed:12771218, this isoform could be derived from an aberrant mRNA form found in placental choriocarcinoma.

    Alternative splice isoforms for MCM8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MCM8 Gene

Post-translational modifications for MCM8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MCM8 Gene

Domains & Families for MCM8 Gene

Gene Families for MCM8 Gene

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

Protein Domains for MCM8 Gene

InterPro:
Blocks:
  • MCM family
ProtoNet:

Suggested Antigen Peptide Sequences for MCM8 Gene

GenScript: Design optimal peptide antigens:
  • Minichromosome maintenance 8 (MCM8_HUMAN)
  • MCM8 protein (Q495R6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UJA3

UniProtKB/Swiss-Prot:

MCM8_HUMAN :
  • Belongs to the MCM family.
Family:
  • Belongs to the MCM family.
genes like me logo Genes that share domains with MCM8: view

Function for MCM8 Gene

Molecular function for MCM8 Gene

UniProtKB/Swiss-Prot Function:
Component of the MCM8-MCM9 complex, a complex involved in the repair of double-stranded DNA breaks (DBSs) and DNA interstrand cross-links (ICLs) by homologous recombination (HR) (PubMed:23401855). Required for DNA resection by the MRE11-RAD50-NBN/NBS1 (MRN) complex by recruiting the MRN complex to the repair site and by promoting the complex nuclease activity (PubMed:26215093). Probably by regulating the localization of the MNR complex, indirectly regulates the recruitment of downstream effector RAD51 to DNA damage sites including DBSs and ICLs (PubMed:23401855). The MCM8-MCM9 complex is dispensable for DNA replication and S phase progression (PubMed:23401855). However, may play a non-essential for DNA replication: may be involved in the activation of the prereplicative complex (pre-RC) during G(1) phase by recruiting CDC6 to the origin recognition complex (ORC) (PubMed:15684404). Probably by regulating HR, plays a key role during gametogenesis (By similarity). Stabilizes MCM9 protein (PubMed:23401855, PubMed:26215093).
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; Evidence={ECO:0000305|PubMed:26215093};.
UniProtKB/Swiss-Prot Induction:
By E2F1.

Enzyme Numbers (IUBMB) for MCM8 Gene

Phenotypes From GWAS Catalog for MCM8 Gene

Gene Ontology (GO) - Molecular Function for MCM8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003677 DNA binding IEA --
GO:0003678 DNA helicase activity IEA --
GO:0003682 chromatin binding IDA 23401855
GO:0003688 DNA replication origin binding IBA 21873635
genes like me logo Genes that share ontologies with MCM8: view
genes like me logo Genes that share phenotypes with MCM8: view

Human Phenotype Ontology for MCM8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MCM8 Gene

MGI Knock Outs for MCM8:
  • Mcm8 Mcm8<tm1.1Geno>

Animal Model Products

CRISPR Products

miRNA for MCM8 Gene

miRTarBase miRNAs that target MCM8

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MCM8

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for MCM8 Gene

Localization for MCM8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MCM8 Gene

Nucleus. Chromosome. Note=Localizes to nuclear foci (PubMed:26215093). Localizes to double-stranded DNA breaks (PubMed:23401855). Binds chromatin throughout the cell cycle (PubMed:15684404). {ECO:0000269 PubMed:15684404, ECO:0000269 PubMed:23401855, ECO:0000269 PubMed:26215093}.

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 MCM8 gene
Compartment Confidence
nucleus 5
cytosol 4
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MCM8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,IDA 23401855
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome IEA --
GO:0005829 cytosol IDA --
GO:0042555 MCM complex IBA 21873635
genes like me logo Genes that share ontologies with MCM8: view

Pathways & Interactions for MCM8 Gene

genes like me logo Genes that share pathways with MCM8: view

Pathways by source for MCM8 Gene

Gene Ontology (GO) - Biological Process for MCM8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000082 G1/S transition of mitotic cell cycle TAS --
GO:0000724 double-strand break repair via homologous recombination IBA,IMP 23401855
GO:0006260 DNA replication TAS --
GO:0006270 DNA replication initiation IEA --
GO:0006281 DNA repair IEA --
genes like me logo Genes that share ontologies with MCM8: view

No data available for SIGNOR curated interactions for MCM8 Gene

Drugs & Compounds for MCM8 Gene

(3) Drugs for MCM8 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

(1) Additional Compounds for MCM8 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
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
genes like me logo Genes that share compounds with MCM8: view

Transcripts for MCM8 Gene

mRNA/cDNA for MCM8 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MCM8

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MCM8 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^
SP1: - - -
SP2: - - -
SP3: - -
SP4: - - -
SP5: - - - -
SP6:
SP7: -

ExUns: 21a · 21b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for MCM8 Gene

GeneLoc Exon Structure for
MCM8

Expression for MCM8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MCM8 Gene

Protein differential expression in normal tissues from HIPED for MCM8 Gene

This gene is overexpressed in Platelet (26.1), Colon (19.5), and Heart (11.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MCM8 Gene



Protein tissue co-expression partners for MCM8 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MCM8

SOURCE GeneReport for Unigene cluster for MCM8 Gene:

Hs.597484

mRNA Expression by UniProt/SwissProt for MCM8 Gene:

Q9UJA3-MCM8_HUMAN
Tissue specificity: Highest levels in placenta, lung and pancreas. Low levels in skeletal muscle and kidney. Expressed in various tumors with highest levels in colon and lung cancers.

Evidence on tissue expression from TISSUES for MCM8 Gene

  • Skin(4.4)
  • Nervous system(4.3)
  • Liver(4.3)
  • Muscle(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MCM8 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • head
  • hypothalamus
  • neck
  • pituitary gland
  • thyroid
Thorax:
  • breast
  • heart
  • lung
Abdomen:
  • intestine
  • large intestine
  • small intestine
Pelvis:
  • ovary
  • testicle
  • uterus
General:
  • blood
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with MCM8: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for MCM8 Gene

Orthologs for MCM8 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MCM8 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MCM8 30 31
  • 99.37 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MCM8 30 31
  • 92.32 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MCM8 30 31
  • 91.91 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Mcm8 30 17 31
  • 87.12 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mcm8 30
  • 86.91 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia MCM8 31
  • 83 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MCM8 31
  • 80 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MCM8 30 31
  • 74.77 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MCM8 31
  • 79 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mcm8 30
  • 71.68 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.22488 30
Zebrafish
(Danio rerio)
Actinopterygii mcm8 31
  • 69 (a)
OneToOne
LOC100333576 30
  • 67.24 (n)
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6835 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002580 30
  • 46.32 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta rec 31
  • 26 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MCM4 31
  • 22 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons MCM8 30
  • 54.58 (n)
Rice
(Oryza sativa)
Liliopsida Os05g0464100 30
  • 55.04 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 50 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.13919 30
Species where no ortholog for MCM8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • 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)
  • Worm (Caenorhabditis elegans)

Evolution for MCM8 Gene

ENSEMBL:
Gene Tree for MCM8 (if available)
TreeFam:
Gene Tree for MCM8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MCM8: view image

Paralogs for MCM8 Gene

Paralogs for MCM8 Gene

(1) SIMAP similar genes for MCM8 Gene using alignment to 1 proteins:

  • MCM8_HUMAN
genes like me logo Genes that share paralogs with MCM8: view

Variants for MCM8 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MCM8 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
708742 Benign: not provided 5,955,186(+) A/G MISSENSE_VARIANT
714894 Benign: not provided 5,955,229(+) G/A MISSENSE_VARIANT
722277 Likely Benign: not provided 5,963,366(+) G/A INTRON_VARIANT
741420 Likely Benign: not provided 5,954,615(+) C/T SYNONYMOUS_VARIANT
769994 Benign: not provided 5,967,894(+) T/C SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for MCM8 Gene

Structural Variations from Database of Genomic Variants (DGV) for MCM8 Gene

Variant ID Type Subtype PubMed ID
esv1746393 CNV deletion 17803354
esv2244525 CNV deletion 18987734
esv2453476 CNV deletion 19546169
esv2722144 CNV deletion 23290073
esv3556782 CNV deletion 23714750
esv3575356 CNV gain 25503493
esv7029 CNV loss 19470904
nsv179031 CNV deletion 16902084

Variation tolerance for MCM8 Gene

Residual Variation Intolerance Score: 95.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.89; 93.53% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MCM8 Gene

Human Gene Mutation Database (HGMD)
MCM8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MCM8

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MCM8 Gene

Disorders for MCM8 Gene

MalaCards: The human disease database

(5) MalaCards diseases for MCM8 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
premature ovarian failure 10
  • pof10
amenorrhea
  • absence of menstruation
46 xx gonadal dysgenesis
  • ovarian dysgenesis
fanconi anemia, complementation group a
  • fanca
premature ovarian failure 1
  • pof1
- elite association - COSMIC cancer census association via MalaCards
Search MCM8 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MCM8_HUMAN
  • Premature ovarian failure 10 (POF10) [MIM:612885]: An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. {ECO:0000269 PubMed:25437880}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MCM8

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with MCM8: view

No data available for Genatlas for MCM8 Gene

Publications for MCM8 Gene

  1. Involvement of human MCM8 in prereplication complex assembly by recruiting hcdc6 to chromatin. (PMID: 15684404) Volkening M … Hoffmann I (Molecular and cellular biology 2005) 3 4 23
  2. Identification and functional characterization of a new member of the human Mcm protein family: hMcm8. (PMID: 12527764) Gozuacik D … Paterlini-Bréchot P (Nucleic acids research 2003) 2 3 4
  3. A new member of the MCM protein family encoded by the human MCM8 gene, located contrapodal to GCD10 at chromosome band 20p12.3-13. (PMID: 12771218) Johnson EM … Daniel DC (Nucleic acids research 2003) 3 4 23
  4. Control of homologous recombination by the HROB-MCM8-MCM9 pathway. (PMID: 31467087) Hustedt N … Durocher D (Genes & development 2019) 3 4
  5. MCM9 Is Required for Mammalian DNA Mismatch Repair. (PMID: 26300262) Traver S … Méchali M (Molecular cell 2015) 3 4

Products for MCM8 Gene

  • Signalway Proteins for MCM8

Sources for MCM8 Gene