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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
  • 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
  • DJ967N21.5 3
  • POF10 3

External Ids for MCM8 Gene

Previous HGNC Symbols for MCM8 Gene

  • C20orf154

Previous GeneCards Identifiers for MCM8 Gene

  • GC20P005879

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 premature ovarian failure. Among its related pathways are Cell Cycle, Mitotic and Cell cycle. GO annotations related to this gene include ATPase activity and magnesium chelatase activity. An important paralog of this gene is MCM4.

UniProtKB/Swiss-Prot for MCM8 Gene

  • Component of the MCM8-MCM9 complex, a complex involved in homologous recombination repair following DNA interstrand cross-links and plays a key role during gametogenesis. The MCM8-MCM9 complex probably acts as a hexameric helicase downstream of the Fanconi anemia proteins BRCA2 and RAD51 and is required to process aberrant forks into homologous recombination substrates and to orchestrate homologous recombination with resection, fork stabilization and fork restart. May also 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). Binds chromatin throughout the cell cycle.

Gene Wiki entry for MCM8 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MCM8 Gene

Genomics for MCM8 Gene

Regulatory Elements for MCM8 Gene

Promoters for MCM8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MCM8 on UCSC Golden Path with GeneCards custom track

Genomic Location for MCM8 Gene

Chromosome:
20
Start:
5,950,652 bp from pter
End:
5,998,977 bp from pter
Size:
48,326 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. Interacts with CDC6 and ORC2.
    SequenceCaution:
    • Sequence=BAB55260.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for MCM8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MCM8 Gene

Proteomics data for MCM8 Gene at MOPED

Post-translational modifications for MCM8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for MCM8 Gene

Domains & Families for MCM8 Gene

Gene Families for MCM8 Gene

Protein Domains for MCM8 Gene

Suggested Antigen Peptide Sequences for MCM8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UJA3

UniProtKB/Swiss-Prot:

MCM8_HUMAN :
  • Contains 1 MCM domain.
  • Belongs to the MCM family.
Domain:
  • Contains 1 MCM domain.
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 CatalyticActivity:
ATP + H(2)O = ADP + phosphate.
UniProtKB/Swiss-Prot Function:
Component of the MCM8-MCM9 complex, a complex involved in homologous recombination repair following DNA interstrand cross-links and plays a key role during gametogenesis. The MCM8-MCM9 complex probably acts as a hexameric helicase downstream of the Fanconi anemia proteins BRCA2 and RAD51 and is required to process aberrant forks into homologous recombination substrates and to orchestrate homologous recombination with resection, fork stabilization and fork restart. May also 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). Binds chromatin throughout the cell cycle.
UniProtKB/Swiss-Prot Induction:
By E2F1.

Enzyme Numbers (IUBMB) for MCM8 Gene

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:

Animal Model Products

miRNA for MCM8 Gene

miRTarBase miRNAs that target MCM8

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for MCM8 Gene

Localization for MCM8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MCM8 Gene

Nucleus. Note=Localizes to nuclear foci and colocalizes with RAD51.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MCM8 Gene COMPARTMENTS Subcellular localization image for MCM8 gene
Compartment Confidence
nucleus 5

No data available for Gene Ontology (GO) - Cellular Components for MCM8 Gene

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 IEA --
GO:0006271 DNA strand elongation involved in DNA replication TAS --
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

(1) Drugs for MCM8 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0

(3) Additional Compounds for MCM8 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with MCM8: view

Transcripts for MCM8 Gene

Unigene Clusters for MCM8 Gene

Minichromosome maintenance complex component 8:
Representative Sequences:

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
ECgene alternative splicing isoforms for
MCM8

Expression for MCM8 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for MCM8 Gene



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.
genes like me logo Genes that share expression patterns with MCM8: view

Protein tissue co-expression partners for MCM8 Gene

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia MCM8 35
  • 91.91 (n)
  • 92.28 (a)
MCM8 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MCM8 35
  • 92.32 (n)
  • 93.04 (a)
MCM8 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mcm8 35
  • 87.12 (n)
  • 90.31 (a)
Mcm8 16
Mcm8 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MCM8 35
  • 99.37 (n)
  • 99.29 (a)
MCM8 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mcm8 35
  • 86.91 (n)
  • 90.72 (a)
oppossum
(Monodelphis domestica)
Mammalia MCM8 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MCM8 36
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves MCM8 35
  • 74.77 (n)
  • 79.75 (a)
MCM8 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MCM8 36
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mcm8 35
  • 71.68 (n)
  • 77.15 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.22488 35
zebrafish
(Danio rerio)
Actinopterygii LOC100333576 35
  • 67.24 (n)
  • 71.88 (a)
mcm8 36
  • 69 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6835 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002580 35
  • 46.32 (n)
  • 41.75 (a)
fruit fly
(Drosophila melanogaster)
Insecta rec 36
  • 26 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MCM4 36
  • 22 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons MCM8 35
  • 54.58 (n)
  • 49.25 (a)
rice
(Oryza sativa)
Liliopsida Os05g0464100 35
  • 55.04 (n)
  • 49.61 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13919 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 50 (a)
OneToOne
Species with no ortholog for MCM8:
  • A. gosspyii yeast (Ashbya 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)

Paralogs for MCM8 Gene

Paralogs for MCM8 Gene

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

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

Variants for MCM8 Gene

Sequence variations from dbSNP and Humsavar for MCM8 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
VAR_015145 -
rs6117014 - 5,954,657(+) GAAAA(A/C)TTTTT nc-transcript-variant, reference, missense
rs16991591 - 5,957,187(+) GTCTA(A/G)TGATG nc-transcript-variant, reference, missense
rs16991615 - 5,967,581(+) ATGCG(A/G)AAGAA nc-transcript-variant, reference, missense
rs28403619 - 5,967,896(+) TAATA(A/G)CAAAG nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
esv2453476 CNV Deletion 19546169
esv2244525 CNV Deletion 18987734
nsv179031 CNV Loss 16902084
esv2722144 CNV Deletion 23290073
esv1746393 CNV Deletion 17803354
esv7029 CNV Loss 19470904

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)

Relevant External Links for MCM8 Gene

HapMap Linkage Disequilibrium report
MCM8
Human Gene Mutation Database (HGMD)
MCM8

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

Disorders for MCM8 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MCM8 Gene - From: OMIM, ClinVar, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
premature ovarian failure 10
  • pof10
premature ovarian failure
  • premature menopause
- 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.

Relevant External Links for MCM8

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

No data available for Genatlas for MCM8 Gene

Publications for MCM8 Gene

  1. Identification and functional characterization of a new member of the human Mcm protein family: hMcm8. (PMID: 12527764) Gozuacik D. … Paterlini-Brechot P. (Nucleic Acids Res. 2003) 2 3 4 67
  2. Involvement of human MCM8 in prereplication complex assembly by recruiting hcdc6 to chromatin. (PMID: 15684404) Volkening M. … Hoffmann I. (Mol. Cell. Biol. 2005) 3 23
  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 E.M. … Daniel D.C. (Nucleic Acids Res. 2003) 3 23
  4. Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability. (PMID: 25437880) AlAsiri S. … Rajkovic A. (J. Clin. Invest. 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for MCM8 Gene

Sources for MCM8 Gene

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