The protein encoded by this gene is a member of the mini-chromosome maintenance (MCM) protein family that are essential for the initiation of eukaryotic genome replication. Binding of this protein to chromatin has been shown to be a pre-requisite for recruiting the MCM2-7 helicase to DNA replication origins. This protein also binds, and is a positive regulator of, the chromatin... See more...

Aliases for MCM9 Gene

Aliases for MCM9 Gene

  • Minichromosome Maintenance 9 Homologous Recombination Repair Factor 2 3 5
  • Mini-Chromosome Maintenance Deficient Domain-Containing Protein 1 3 4
  • Minichromosome Maintenance Complex Component 9 2 3
  • DNA Helicase MCM9 3 4
  • DJ329L24.3 2 3
  • C6orf61 3 4
  • MCMDC1 3 4
  • Minichromosome Maintenance Deficient Domain Containing 1 2
  • DNA Replication Licensing Factor MCM9 3
  • Chromosome 6 Open Reading Frame 61 2
  • Minichromosome Maintenance 9 4
  • EC 3.6.4.12 4
  • DJ329L24.1 3
  • MGC35304 2
  • FLJ20170 2
  • HMCM9 4
  • ODG4 3
  • MCM9 5

External Ids for MCM9 Gene

Previous HGNC Symbols for MCM9 Gene

  • MCMDC1
  • C6orf61

Previous GeneCards Identifiers for MCM9 Gene

  • GC06M119255
  • GC06M119136
  • GC06M116813

Summaries for MCM9 Gene

Entrez Gene Summary for MCM9 Gene

  • The protein encoded by this gene is a member of the mini-chromosome maintenance (MCM) protein family that are essential for the initiation of eukaryotic genome replication. Binding of this protein to chromatin has been shown to be a pre-requisite for recruiting the MCM2-7 helicase to DNA replication origins. This protein also binds, and is a positive regulator of, the chromatin licensing and DNA replication factor 1, CDT1. [provided by RefSeq, Nov 2010]

GeneCards Summary for MCM9 Gene

MCM9 (Minichromosome Maintenance 9 Homologous Recombination Repair Factor) is a Protein Coding gene. Diseases associated with MCM9 include Ovarian Dysgenesis 4 and Premature Ovarian Failure 1. Among its related pathways are Cell cycle. 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 MCM9 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 MRN complex, indirectly regulates the recruitment of downstream effector RAD51 to DNA damage sites including DBSs and ICLs (PubMed:23401855). Acts as a helicase in DNA mismatch repair (MMR) following DNA replication errors to unwind the mismatch containing DNA strand (PubMed:26300262). In addition, recruits MLH1, a component of the MMR complex, to chromatin (PubMed:26300262). The MCM8-MCM9 complex is dispensable for DNA replication and S phase progression (PubMed:23401855). Probably by regulating HR, plays a key role during gametogenesis (By similarity).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MCM9 Gene

Genomics for MCM9 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MCM9 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
GH06J118933 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 262.8 +0.2 198 2.9 ZNF207 NCOR1 ZNF600 MYC ZNF592 KLF9 POLR2A ZSCAN16 ZIC2 ZBTB10 MCM9 ENSG00000253194 ASF1A
GH06J119237 Enhancer 1 Ensembl ENCODE 62.7 -302.3 -302301 0.5 SP1 JUND BRCA1 ELK1 TBP MAX IRF2 MBD2 POLR2A PRDM1 MCM9 ENSG00000216809 ENSG00000216316 HSALNG0053118 lnc-FAM184A-1 FAM184A MAN1A1
GH06J118890 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 22.4 +40.9 40930 6.8 BCLAF1 SP1 ZNF654 NCOR1 IKZF1 MYC SSRP1 ZNF592 KLF9 POLR2A ASF1A lnc-FAM184A-3 MCM9 CEP85L ENSG00000253194 FAM184A
GH06J118707 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 24.3 +225.8 225758 3.6 NCOR1 ZNF600 MYC IKZF1 ZNF592 NFIC ZIC2 YY1 SMAD5 TARDBP CEP85L MCM9 piR-61945-438 PLN MN298114-213
GH06J119344 Promoter/Enhancer 1.9 Ensembl ENCODE CraniofacialAtlas dbSUPER 18.6 -412.7 -412739 7.4 BCLAF1 SP1 NCOR1 ZNF654 MYC ZNF600 IKZF1 SSRP1 ZNF592 KLF9 piR-40021 MCM9 MAN1A1 ENSG00000216316 ENSG00000287100 lnc-ASF1A-6 FAM184A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MCM9 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MCM9

Top Transcription factor binding sites by QIAGEN in the MCM9 gene promoter:
  • AML1a
  • COMP1
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • Msx-1
  • Sox5

Genomic Locations for MCM9 Gene

Latest Assembly
chr6:118,813,442-118,935,162
(GRCh38/hg38)
Size:
121,721 bases
Orientation:
Minus strand

Previous Assembly
chr6:119,134,618-119,256,324
(GRCh37/hg19 by Entrez Gene)
Size:
121,707 bases
Orientation:
Minus strand

chr6:119,134,605-119,256,327
(GRCh37/hg19 by Ensembl)
Size:
121,723 bases
Orientation:
Minus strand

Genomic View for MCM9 Gene

Genes around MCM9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MCM9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MCM9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MCM9 Gene

Proteins for MCM9 Gene

  • Protein details for MCM9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NXL9-MCM9_HUMAN
    Recommended name:
    DNA helicase MCM9
    Protein Accession:
    Q9NXL9
    Secondary Accessions:
    • B4DR30
    • B9DI77
    • Q2KHJ0
    • Q8N5S5
    • Q9HCV5

    Protein attributes for MCM9 Gene

    Size:
    1143 amino acids
    Molecular mass:
    127313 Da
    Quaternary structure:
    • Component of the MCM8-MCM9 complex, which forms a hexamer composed of MCM8 and MCM9 (PubMed:23401855, PubMed:26300262, PubMed:26215093). Interacts with the DNA mismatch repair (MMR) complex composed at least of MSH2, MSH3, MSH6, PMS1 and MLH1 (PubMed:26300262). Interacts with MLH1; the interaction recruits MLH1 to chromatin (PubMed:26300262). Interacts with MSH2; the interaction recruits MCM9 to chromatin (PubMed:26300262). Interacts with MSH6 (PubMed:26300262). Interacts with the MRN complex composed of MRE11, RAD50 and NBN/NBS1; the interaction recruits the MRN complex to DNA damage sites (PubMed:26215093). Interacts with RAD51; the interaction recruits RAD51 to DNA damage sites (PubMed:23401855).
    SequenceCaution:
    • Sequence=BAA90991.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAG61142.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform L]: Most abundant isoform.

    Alternative splice isoforms for MCM9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MCM9 Gene

Post-translational modifications for MCM9 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MCM9 Gene

Domains & Families for MCM9 Gene

Gene Families for MCM9 Gene

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

Protein Domains for MCM9 Gene

Suggested Antigen Peptide Sequences for MCM9 Gene

GenScript: Design optimal peptide antigens:
  • Minichromosome maintenance complex component 9 (B9DI74_HUMAN)
  • Minichromosome maintenance complex component 9 (B9DI76_HUMAN)
  • Minichromosome maintenance complex component 9 (B9DI77_HUMAN)
  • Mini-chromosome maintenance deficient domain-containing protein 1 (MCM9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NXL9

UniProtKB/Swiss-Prot:

MCM9_HUMAN :
  • Belongs to the MCM family.
Family:
  • Belongs to the MCM family.
genes like me logo Genes that share domains with MCM9: view

Function for MCM9 Gene

Molecular function for MCM9 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 MRN complex, indirectly regulates the recruitment of downstream effector RAD51 to DNA damage sites including DBSs and ICLs (PubMed:23401855). Acts as a helicase in DNA mismatch repair (MMR) following DNA replication errors to unwind the mismatch containing DNA strand (PubMed:26300262). In addition, recruits MLH1, a component of the MMR complex, to chromatin (PubMed:26300262). The MCM8-MCM9 complex is dispensable for DNA replication and S phase progression (PubMed:23401855). Probably by regulating HR, plays a key role during gametogenesis (By similarity).
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:0000269|PubMed:26300262};.

Enzyme Numbers (IUBMB) for MCM9 Gene

Phenotypes From GWAS Catalog for MCM9 Gene

Gene Ontology (GO) - Molecular Function for MCM9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003677 DNA binding IEA --
GO:0003678 DNA helicase activity IMP 26300262
GO:0003682 chromatin binding IDA 23401855
GO:0003688 DNA replication origin binding IBA 21873635
genes like me logo Genes that share ontologies with MCM9: view
genes like me logo Genes that share phenotypes with MCM9: view

Human Phenotype Ontology for MCM9 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MCM9 Gene

MGI Knock Outs for MCM9:
  • Mcm9 Mcm9<tm1.1Geno>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MCM9

No data available for Transcription Factor Targets and HOMER Transcription for MCM9 Gene

Localization for MCM9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MCM9 Gene

Nucleus. Chromosome. Note=Colocalizes to nuclear foci with RPA1 following DNA damage (PubMed:23401855). Localizes to double-stranded DNA breaks (PubMed:23401855). Recruited to chromatin by MSH2 (PubMed:26300262). {ECO:0000269 PubMed:23401855, ECO:0000269 PubMed:26300262}.

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 MCM9 gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MCM9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,IDA 23401855
GO:0005694 chromosome IEA --
GO:0042555 MCM complex IBA 21873635
GO:0097362 MCM8-MCM9 complex IDA 22771115
genes like me logo Genes that share ontologies with MCM9: view

Pathways & Interactions for MCM9 Gene

PathCards logo

SuperPathways for MCM9 Gene

SuperPathway Contained pathways
1 Cell cycle
genes like me logo Genes that share pathways with MCM9: view

Pathways by source for MCM9 Gene

1 BioSystems pathway for MCM9 Gene

Gene Ontology (GO) - Biological Process for MCM9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000724 double-strand break repair via homologous recombination IBA,IMP 23401855
GO:0006260 NOT DNA replication IGI 23401855
GO:0006270 DNA replication initiation IEA --
GO:0006281 DNA repair IEA --
GO:0006974 cellular response to DNA damage stimulus IEA,IDA 22771115
genes like me logo Genes that share ontologies with MCM9: view

No data available for SIGNOR curated interactions for MCM9 Gene

Drugs & Compounds for MCM9 Gene

(7) Drugs for MCM9 Gene - From: ApexBio and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Phosphate Experimental Pharma 0
ATP Investigational Nutra 0
KPT-185 Pharma CRM1 inhibitor,selective and irrversible 0
KPT-276 Pharma 0

(1) Additional Compounds for MCM9 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

(4) ApexBio Compounds for MCM9 Gene

Compound Action Cas Number
KPT-185 CRM1 inhibitor,selective and irrversible 1333151-73-7
KPT-276 1421919-75-6
KPT-330 1393477-72-9
Verdinexor (KPT-335) 1392136-43-4
genes like me logo Genes that share compounds with MCM9: view

Drug products for research

Transcripts for MCM9 Gene

mRNA/cDNA for MCM9 Gene

19 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
9 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 MCM9

Alternative Splicing Database (ASD) splice patterns (SP) for MCM9 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12
SP1: - -
SP2:
SP3:
SP4: -
SP5:

Relevant External Links for MCM9 Gene

GeneLoc Exon Structure for
MCM9

Expression for MCM9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MCM9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MCM9 Gene

This gene is overexpressed in Blymphocyte (65.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MCM9 Gene



Protein tissue co-expression partners for MCM9 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MCM9

SOURCE GeneReport for Unigene cluster for MCM9 Gene:

Hs.279008

Evidence on tissue expression from TISSUES for MCM9 Gene

  • Nervous system(4.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MCM9 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • endocrine
  • reproductive
  • skeleton
Regions:
Head and neck:
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • pituitary gland
  • skull
Thorax:
  • breast
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • ovary
  • pelvis
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with MCM9: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MCM9 Gene

Orthologs for MCM9 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MCM9 Gene

Organism Taxonomy Gene Similarity Type Details
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 100 (a)
OneToMany
-- 30
  • 51 (a)
OneToMany
Chimpanzee
(Pan troglodytes)
Mammalia MCM9 29 30
  • 99.33 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MCM9 29 30
  • 86.12 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MCM9 29 30
  • 84.46 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Mcm9 29 16 30
  • 79.64 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mcm9 29
  • 78.66 (n)
Oppossum
(Monodelphis domestica)
Mammalia MCM9 30
  • 65 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MCM9 29 30
  • 64.33 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MCM9 30
  • 54 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mcm9 29
  • 61.32 (n)
Zebrafish
(Danio rerio)
Actinopterygii mcm9 30
  • 48 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MCM2 30
  • 21 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons MCM9 29
  • 53.88 (n)
Rice
(Oryza sativa)
Liliopsida Os06g0218500 29
  • 54.84 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 45 (a)
OneToOne
Species where no ortholog for MCM9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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 MCM9 Gene

ENSEMBL:
Gene Tree for MCM9 (if available)
TreeFam:
Gene Tree for MCM9 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MCM9: view image
Alliance of Genome Resources:
Additional Orthologs for MCM9

Paralogs for MCM9 Gene

Paralogs for MCM9 Gene

(3) SIMAP similar genes for MCM9 Gene using alignment to 4 proteins:

  • MCM9_HUMAN
  • D6RE85_HUMAN
  • D6RHY8_HUMAN
  • H0Y6M9_HUMAN
genes like me logo Genes that share paralogs with MCM9: view

Variants for MCM9 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MCM9 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
997480 Pathogenic: Ovarian dysgenesis 4 118,913,308(-) TC/T
NM_017696.3(MCM9):c.1016del (p.Gly339fs)
FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON
rs1060505058 Pathogenic: Ovarian dysgenesis 4 118,829,093(-) C/A
NM_017696.2(MCM9):c.1483G>T (p.Glu495Ter)
NONSENSE
rs115772624 Benign: not provided 118,917,715(-) G/A
NM_017696.2(MCM9):c.750C>T (p.Pro250=)
SYNONYMOUS
rs116048760 Benign: not provided 118,815,808(-) T/G
NM_017696.2(MCM9):c.2448A>C (p.Glu816Asp)
MISSENSE
rs151149424 Benign: not provided 118,856,424(-) C/T
NM_017696.2(MCM9):c.1272G>A (p.Arg424=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MCM9 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 MCM9 Gene

Variant ID Type Subtype PubMed ID
esv2658866 CNV deletion 23128226
esv2660667 CNV deletion 23128226
esv2675335 CNV deletion 23128226
esv2677245 CNV deletion 23128226
esv29127 CNV gain 19812545
esv3375972 CNV duplication 20981092
esv3610526 CNV loss 21293372
esv3610527 CNV loss 21293372
esv3610528 CNV loss 21293372
esv3610529 CNV loss 21293372
nsv1020463 CNV gain 25217958
nsv1161446 CNV duplication 26073780
nsv437523 CNV loss 16327808
nsv473895 CNV novel sequence insertion 20440878
nsv476974 CNV novel sequence insertion 20440878
nsv477221 CNV novel sequence insertion 20440878
nsv479119 CNV novel sequence insertion 20440878
nsv479792 CNV novel sequence insertion 20440878
nsv479849 CNV novel sequence insertion 20440878
nsv480367 CNV novel sequence insertion 20440878
nsv480485 CNV novel sequence insertion 20440878
nsv480584 CNV novel sequence insertion 20440878
nsv480609 CNV novel sequence insertion 20440878
nsv480674 CNV novel sequence insertion 20440878
nsv480899 CNV novel sequence insertion 20440878
nsv481210 CNV novel sequence insertion 20440878
nsv481344 CNV novel sequence insertion 20440878
nsv509151 CNV insertion 20534489
nsv510910 OTHER complex 20534489
nsv5453 CNV insertion 18451855
nsv830788 CNV gain 17160897

Variation tolerance for MCM9 Gene

Gene Damage Index Score: 5.14; 69.38% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MCM9 Gene

Human Gene Mutation Database (HGMD)
MCM9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MCM9
Leiden Open Variation Database (LOVD)
MCM9

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MCM9 Gene

Disorders for MCM9 Gene

MalaCards: The human disease database

(8) MalaCards diseases for MCM9 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search MCM9 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MCM9_HUMAN
  • Ovarian dysgenesis 4 (ODG4) [MIM:616185]: A form of ovarian dysgenesis, a disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads. ODG4 is an autosomal recessive condition. {ECO:0000269 PubMed:25480036}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for MCM9

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 MCM9: view

No data available for Genatlas for MCM9 Gene

Publications for MCM9 Gene

  1. Identification of full genes and proteins of MCM9, a novel, vertebrate-specific member of the MCM2-8 protein family. (PMID: 16226853) Lutzmann M … Méchali M (Gene 2005) 2 3 4 22
  2. MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instability. (PMID: 25480036) Wood-Trageser MA … Rajkovic A (American journal of human genetics 2014) 3 4 72
  3. Identification of a novel cell-cycle-induced MCM family protein MCM9. (PMID: 15850810) Yoshida K (Biochemical and biophysical research communications 2005) 2 3 22
  4. A non-sense MCM9 mutation in a familial case of primary ovarian insufficiency. (PMID: 26771056) Fauchereau F … Veitia RA (Clinical genetics 2016) 3 72
  5. MCM8-9 complex promotes resection of double-strand break ends by MRE11-RAD50-NBS1 complex. (PMID: 26215093) Lee KY … Dutta A (Nature communications 2015) 3 4

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