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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
  • DNA Helicase MCM8 3
  • 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 Cardiomyopathy, Hypertrophic, 20. Among its related pathways are E2F mediated regulation of DNA replication and CDK-mediated phosphorylation and removal of Cdc6. 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MCM8 Gene

Genomics for MCM8 Gene

Regulatory Elements for MCM8 Gene

Enhancers for MCM8 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20G005918 1.3 FANTOM5 Ensembl ENCODE 25.5 -31.1 -31096 2.6 TAF1 JUN MAX FOSL1 ZFHX2 ZNF316 POLR2A NFE2 FOS MAFK MCM8 TRMT6 RNU1-55P GPCPD1 CHGB KANK1P1
GH20G005979 0.7 ENCODE 45 +30.2 30249 3.1 HLF CEBPB CEBPG ZNF384 POLR2A NCOR1 HMBOX1 ZNF580 HNF4A NR2F6 MCM8 CRLS1 TRMT6 CHGB ENSG00000275632 ENSG00000231961
GH20G005949 1.1 ENCODE 25.9 -0.1 -76 2.3 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF207 MCM8 TRMT6
GH20G005513 1.2 Ensembl ENCODE 22.1 -436.5 -436522 1.1 FOXA2 ATF1 MLX ARID4B DMAP1 FOS SP5 MXD4 MIER2 PPARG MCM8 LOC149844 TRMT6 CDS2 CHGB LOC643406 LINC01729 RPS18P1
GH20G005116 1.2 ENCODE 21.2 -831.7 -831720 3.9 HDGF FOXA2 MLX CREB3L1 AGO1 ZFP64 SIN3A ARID4B DMAP1 ZNF2 PCNA MCM8 TMEM230 CDS2 PCNA-AS1 ENSG00000252367
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MCM8 on UCSC Golden Path with GeneCards custom track

Promoters for MCM8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000134128 -52 2001 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 KLF13

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

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

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 :
  • 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 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

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:0004386 helicase activity IEA --
GO:0005515 protein binding IPI 22540012
GO:0005524 ATP binding IEA --
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:

Animal Model Products

CRISPR Products

miRNA for MCM8 Gene

miRTarBase miRNAs that target MCM8

Inhibitory RNA Products

Flow Cytometry 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. Note=Localizes to nuclear foci and colocalizes with RAD51.

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

Gene Ontology (GO) - Cellular Components for MCM8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
GO:0097362 MCM8-MCM9 complex IDA 22771115
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

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: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
Adenosine triphosphate Approved Nutra 0

(1) 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
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:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry 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
ECgene alternative splicing isoforms for
MCM8

Expression for MCM8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for MCM8 Gene



Protein tissue co-expression partners for MCM8 Gene

NURSA nuclear receptor signaling pathways regulating expression of MCM8 Gene:

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(4.2)
  • Liver(4.1)
  • Muscle(4.1)
  • Nervous system(4.1)

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
Organs:
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

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia MCM8 34 35
  • 99.37 (n)
dog
(Canis familiaris)
Mammalia MCM8 34 35
  • 92.32 (n)
cow
(Bos Taurus)
Mammalia MCM8 34 35
  • 91.91 (n)
mouse
(Mus musculus)
Mammalia Mcm8 34 16 35
  • 87.12 (n)
rat
(Rattus norvegicus)
Mammalia Mcm8 34
  • 86.91 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MCM8 35
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MCM8 35
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves MCM8 34 35
  • 74.77 (n)
lizard
(Anolis carolinensis)
Reptilia MCM8 35
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mcm8 34
  • 71.68 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.22488 34
zebrafish
(Danio rerio)
Actinopterygii mcm8 35
  • 69 (a)
OneToOne
LOC100333576 34
  • 67.24 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6835 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002580 34
  • 46.32 (n)
fruit fly
(Drosophila melanogaster)
Insecta rec 35
  • 26 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MCM4 35
  • 22 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons MCM8 34
  • 54.58 (n)
rice
(Oryza sativa)
Liliopsida Os05g0464100 34
  • 55.04 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 50 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13919 34
Species where no ortholog for MCM8 was found in the sources mined by GeneCards:
  • 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
rs606231343 Pathogenic, Premature ovarian failure 10 (POF10) [MIM:612885] 5,955,211(+) TGCAC(C/G)TGAGA nc-transcript-variant, reference, missense
rs1057518234 Pathogenic 5,954,632(+) TTTGA(-/TTGA)GAAGA nc-transcript-variant, reference, frameshift-variant
rs138761187 Pathogenic 5,985,921(+) CTTCA(A/G)GTGGT splice-acceptor-variant
rs869320753 Pathogenic 5,977,950(+) TAACT(-/TA)CTTTC nc-transcript-variant, reference, frameshift-variant
rs1000086302 -- 5,969,174(+) TACTT(C/T)TGATA intron-variant

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)

Relevant External Links for MCM8 Gene

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

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

Disorders for MCM8 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
premature ovarian failure 10
  • pof10
cardiomyopathy, hypertrophic, 20
  • hypertrophic cardiomyopathy 20
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. Involvement of human MCM8 in prereplication complex assembly by recruiting hcdc6 to chromatin. (PMID: 15684404) Volkening M. … Hoffmann I. (Mol. Cell. Biol. 2005) 3 4 22 64
  2. 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 64
  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 4 22 64
  4. Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability. (PMID: 25437880) AlAsiri S. … Rajkovic A. (J. Clin. Invest. 2015) 3 4 64
  5. Mcm8 and Mcm9 form a complex that functions in homologous recombination repair induced by DNA interstrand crosslinks. (PMID: 22771115) Nishimura K. … Kanemaki M.T. (Mol. Cell 2012) 3 4 64

Products for MCM8 Gene

Sources for MCM8 Gene

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