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Aliases for MCMDC2 Gene

Aliases for MCMDC2 Gene

  • Minichromosome Maintenance Domain Containing 2 2 3 5
  • MCM Domain-Containing Protein 2 3 4
  • C8orf45 3 4
  • Minichromosome Maintenance Domain-Containing Protein 2 3
  • MCM Domain-Containing Protein C8orf45 3
  • Chromosome 8 Open Reading Frame 45 2

External Ids for MCMDC2 Gene

Previous HGNC Symbols for MCMDC2 Gene

  • C8orf45

Previous GeneCards Identifiers for MCMDC2 Gene

  • GC08P067783

Summaries for MCMDC2 Gene

GeneCards Summary for MCMDC2 Gene

MCMDC2 (Minichromosome Maintenance Domain Containing 2) is a Protein Coding gene.

UniProtKB/Swiss-Prot for MCMDC2 Gene

  • Plays an important role in meiotic recombination and associated DNA double-strand break repair.

Additional gene information for MCMDC2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MCMDC2 Gene

Genomics for MCMDC2 Gene

GeneHancer (GH) Regulatory Elements for MCMDC2 Gene

Promoters and enhancers for MCMDC2 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
GH08I066870 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 550.8 +0.0 14 1.3 MAX SIN3A DMAP1 RAD21 YY1 E2F1 POLR2A ZNF143 THAP11 ZNF687 MCMDC2 TCF24 GC08M066923
GH08I066112 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 9.8 -756.6 -756569 3.8 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B IRF4 GC08P066144 GC08P066148 PIR59286 PIR37716 TRIM55 TRY-GTA5-1 TRY-GTA5-2 C8orf44 CSPP1 LOC100288001
GH08I066511 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 3.5 -357.6 -357591 3.3 PKNOX1 NEUROD1 MZF1 NFXL1 RAD21 ZNF143 RCOR1 DEK HCFC1 GATAD2B MYBL1 C8orf46 MCMDC2 RNU6-1324P GC08M066613
GH08I066531 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 2.7 -336.3 -336335 6.1 PKNOX1 ATF1 FOXA2 SIN3A BATF RAD21 RFX5 ZNF335 SCRT2 FOS RNU6-1324P MYBL1 ADHFE1 VCPIP1 MCMDC2 GC08M066613
GH08I067184 Enhancer 0.2 FANTOM5 6 +314.2 314229 0.4 NPM1P44 COPS5 CSPP1 PPP1R42 MCMDC2 C8orf44 PIR58223 ARFGEF1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MCMDC2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for MCMDC2 Gene

Genomic Locations for MCMDC2 Gene
chr8:66,870,749-66,926,386
(GRCh38/hg38)
Size:
55,638 bases
Orientation:
Plus strand
chr8:67,782,984-67,834,283
(GRCh37/hg19)

Genomic View for MCMDC2 Gene

Genes around MCMDC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MCMDC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MCMDC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MCMDC2 Gene

Proteins for MCMDC2 Gene

  • Protein details for MCMDC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q4G0Z9-MCMD2_HUMAN
    Recommended name:
    Minichromosome maintenance domain-containing protein 2
    Protein Accession:
    Q4G0Z9
    Secondary Accessions:
    • B4DYZ3
    • B4DZM4
    • B4E293
    • Q6P533
    • Q7Z3P4

    Protein attributes for MCMDC2 Gene

    Size:
    681 amino acids
    Molecular mass:
    76219 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH34576.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH63108.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for MCMDC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MCMDC2 Gene

Post-translational modifications for MCMDC2 Gene

No Post-translational modifications

No data available for DME Specific Peptides for MCMDC2 Gene

Domains & Families for MCMDC2 Gene

Gene Families for MCMDC2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MCMDC2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MCMDC2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MCMDC2: view

No data available for UniProtKB/Swiss-Prot for MCMDC2 Gene

Function for MCMDC2 Gene

Molecular function for MCMDC2 Gene

UniProtKB/Swiss-Prot Function:
Plays an important role in meiotic recombination and associated DNA double-strand break repair.

Gene Ontology (GO) - Molecular Function for MCMDC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with MCMDC2: view
genes like me logo Genes that share phenotypes with MCMDC2: view

Animal Models for MCMDC2 Gene

MGI Knock Outs for MCMDC2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MCMDC2 Gene

Localization for MCMDC2 Gene

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 MCMDC2 gene
Compartment Confidence
nucleus 2
cytosol 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for MCMDC2 Gene

Pathways & Interactions for MCMDC2 Gene

SuperPathways for MCMDC2 Gene

No Data Available

Interacting Proteins for MCMDC2 Gene

Gene Ontology (GO) - Biological Process for MCMDC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006270 DNA replication initiation IEA --
GO:0006281 DNA repair IEA --
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0007130 synaptonemal complex assembly IEA --
GO:0007146 meiotic recombination nodule assembly IEA --
genes like me logo Genes that share ontologies with MCMDC2: view

No data available for Pathways by source and SIGNOR curated interactions for MCMDC2 Gene

Drugs & Compounds for MCMDC2 Gene

No Compound Related Data Available

Transcripts for MCMDC2 Gene

Unigene Clusters for MCMDC2 Gene

Minichromosome maintenance domain containing 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MCMDC2 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15
SP1: - -
SP2: -
SP3: - -
SP4: -
SP5:

Relevant External Links for MCMDC2 Gene

GeneLoc Exon Structure for
MCMDC2
ECgene alternative splicing isoforms for
MCMDC2

Expression for MCMDC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MCMDC2 Gene

mRNA differential expression in normal tissues according to GTEx for MCMDC2 Gene

This gene is overexpressed in Testis (x5.8).

NURSA nuclear receptor signaling pathways regulating expression of MCMDC2 Gene:

MCMDC2

SOURCE GeneReport for Unigene cluster for MCMDC2 Gene:

Hs.437006

Evidence on tissue expression from TISSUES for MCMDC2 Gene

  • Lung(4)
genes like me logo Genes that share expression patterns with MCMDC2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MCMDC2 Gene

Orthologs for MCMDC2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MCMDC2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MCMDC2 33 34
  • 99.56 (n)
cow
(Bos Taurus)
Mammalia MCMDC2 33 34
  • 91.87 (n)
dog
(Canis familiaris)
Mammalia MCMDC2 33 34
  • 91.39 (n)
mouse
(Mus musculus)
Mammalia Mcmdc2 33 16 34
  • 86.74 (n)
rat
(Rattus norvegicus)
Mammalia Mcmdc2 33
  • 86.1 (n)
oppossum
(Monodelphis domestica)
Mammalia MCMDC2 34
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MCMDC2 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves C8ORF45 33
  • 70.08 (n)
MCMDC2 34
  • 65 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii LOC100150056 33
  • 58.17 (n)
MCMDC2 34
  • 51 (a)
OneToOne
Species where no ortholog for MCMDC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • lizard (Anolis carolinensis)
  • 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 (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MCMDC2 Gene

ENSEMBL:
Gene Tree for MCMDC2 (if available)
TreeFam:
Gene Tree for MCMDC2 (if available)

Paralogs for MCMDC2 Gene

No data available for Paralogs for MCMDC2 Gene

Variants for MCMDC2 Gene

Sequence variations from dbSNP and Humsavar for MCMDC2 Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs1000009447 -- 66,889,827(+) C/T intron_variant
rs1000152728 -- 66,907,767(+) T/A genic_downstream_transcript_variant, intron_variant
rs1000402023 -- 66,920,797(+) C/G/T 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant
rs1000408237 -- 66,885,069(+) C/G intron_variant
rs1000430736 -- 66,886,216(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for MCMDC2 Gene

Variant ID Type Subtype PubMed ID
nsv1132152 CNV deletion 24896259
nsv1026746 CNV gain 25217958
esv3572802 CNV loss 25503493

Variation tolerance for MCMDC2 Gene

Residual Variation Intolerance Score: 71.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.70; 83.01% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MCMDC2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MCMDC2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MCMDC2 Gene

Disorders for MCMDC2 Gene

Additional Disease Information for MCMDC2

No disorders were found for MCMDC2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MCMDC2 Gene

Publications for MCMDC2 Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  2. A quantitative atlas of mitotic phosphorylation. (PMID: 18669648) Dephoure N … Gygi SP (Proceedings of the National Academy of Sciences of the United States of America 2008) 4 58
  3. The full-ORF clone resource of the German cDNA Consortium. (PMID: 17974005) Bechtel S … Schupp I (BMC genomics 2007) 4 58
  4. DNA sequence and analysis of human chromosome 8. (PMID: 16421571) Nusbaum C … Lander ES (Nature 2006) 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 4 58

Products for MCMDC2 Gene

Sources for MCMDC2 Gene

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