The protein encoded by this gene is structurally very similar to the CDC46 protein from S. cerevisiae, a protein involved in the initiation of DNA replication. The encoded protein is a member of the MCM family of chromatin-binding proteins and can interact with at least two other members of this family. The encoded protein is upregulated in the transition from the G0 to G1/S ph... See more...

Aliases for MCM5 Gene

Aliases for MCM5 Gene

  • Minichromosome Maintenance Complex Component 5 2 3 5
  • DNA Replication Licensing Factor MCM5 3 4
  • CDC46 Homolog 3 4
  • P1-CDC46 3 4
  • CDC46 3 4
  • MCM5 Minichromosome Maintenance Deficient 5, Cell Division Cycle 46 (S. Cerevisiae) 2
  • Minichromosome Maintenance Deficient (S. Cerevisiae) 5 (Cell Division Cycle 46) 2
  • MCM5 Minichromosome Maintenance Deficient 5, Cell Division Cycle 46 3
  • Minichromosome Maintenance Deficient 5 (Cell Division Cycle 46) 3
  • EC 3.6.4.12 4
  • MGORS8 3

External Ids for MCM5 Gene

Previous HGNC Symbols for MCM5 Gene

  • CDC46

Previous GeneCards Identifiers for MCM5 Gene

  • GC22P032492
  • GC22P034120
  • GC22P034126
  • GC22P035797
  • GC22P018759
  • GC22P035798

Summaries for MCM5 Gene

Entrez Gene Summary for MCM5 Gene

  • The protein encoded by this gene is structurally very similar to the CDC46 protein from S. cerevisiae, a protein involved in the initiation of DNA replication. The encoded protein is a member of the MCM family of chromatin-binding proteins and can interact with at least two other members of this family. The encoded protein is upregulated in the transition from the G0 to G1/S phase of the cell cycle and may actively participate in cell cycle regulation. [provided by RefSeq, Jul 2008]

GeneCards Summary for MCM5 Gene

MCM5 (Minichromosome Maintenance Complex Component 5) is a Protein Coding gene. Diseases associated with MCM5 include Meier-Gorlin Syndrome 8 and Genitourinary Tract Anomalies. Among its related pathways are E2F mediated regulation of DNA replication and Cell cycle. Gene Ontology (GO) annotations related to this gene include chromatin binding and DNA replication origin binding. An important paralog of this gene is MCM3.

UniProtKB/Swiss-Prot Summary for MCM5 Gene

  • Acts as component of the MCM2-7 complex (MCM complex) which is the putative replicative helicase essential for 'once per cell cycle' DNA replication initiation and elongation in eukaryotic cells. The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differentially to the complex helicase activity (By similarity). Interacts with MCMBP.

Gene Wiki entry for MCM5 Gene

Additional gene information for MCM5 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MCM5 Gene

Genomics for MCM5 Gene

GeneHancer (GH) Regulatory Elements for MCM5 Gene

Promoters and enhancers for MCM5 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
GH22J035396 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 512.4 -1.0 -1018 5.6 ZBTB40 SIN3A NRF1 TCF12 POLR2G SP1 GTF2E2 TEAD4 FOS ZNF639 MCM5 lnc-HMOX1-1 lnc-MB-10 HMGXB4 MYH9 APOL4 piR-43105-433
GH22J035376 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 15.3 -20.4 -20422 7.1 EP300 SIN3A TCF12 MYC POLR2G USF1 SP1 NCOR1 JUND FOS HMOX1 NONHSAG033802.2 HMGXB4 MCM5 TOM1 RBFOX2 APOL6 AB905429 ENSG00000282041
GH22J035834 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 14.3 +437.5 437463 7.9 HNRNPK EP300 CTCF ZSCAN5C TCF12 NRF1 JUND TEAD4 ZNF639 ZIC2 RBFOX2 RPL41P3 piR-35054-006 HMGXB4 EIF3D MCM5 IFT27 APOL6 MB RPS15AP38
GH22J035298 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 13 -99.1 -99056 4.8 EP300 FOXK2 ZBTB40 ZSCAN5C SIN3A NRF1 POLR2G USF1 SP1 NCOR1 TOM1 ENSG00000273176 HMGXB4 RBFOX2 MCM5 MIR3909
GH22J035540 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 14.1 +140.8 140838 2.2 USF1 ZNF10 ZIC2 ZBTB10 ZBTB26 MYC EZH2 ZNF341 ZNF266 WT1 RASD2 MCM5 EIF3D HMGXB4 RPS15AP38 RF00017-3822
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MCM5 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MCM5

Top Transcription factor binding sites by QIAGEN in the MCM5 gene promoter:
  • AP-4
  • ARP-1
  • Brachyury
  • CREB
  • deltaCREB
  • NF-Y
  • p300
  • p53

Genomic Locations for MCM5 Gene

Genomic Locations for MCM5 Gene
chr22:35,400,063-35,454,889
(GRCh38/hg38)
Size:
54,827 bases
Orientation:
Plus strand
chr22:35,796,056-35,821,423
(GRCh37/hg19)
Size:
25,368 bases
Orientation:
Plus strand

Genomic View for MCM5 Gene

Genes around MCM5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MCM5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MCM5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MCM5 Gene

Proteins for MCM5 Gene

  • Protein details for MCM5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P33992-MCM5_HUMAN
    Recommended name:
    DNA replication licensing factor MCM5
    Protein Accession:
    P33992
    Secondary Accessions:
    • O60785
    • Q14578
    • Q9BTJ4
    • Q9BWL8

    Protein attributes for MCM5 Gene

    Size:
    734 amino acids
    Molecular mass:
    82286 Da
    Quaternary structure:
    • Component of the MCM2-7 complex. The complex forms a toroidal hexameric ring with the proposed subunit order MCM2-MCM6-MCM4-MCM7-MCM3-MCM5 (Probable). Interacts with ANKRD17.
    Miscellaneous:
    • Early fractionation of eukaryotic MCM proteins yielded a variety of dimeric, trimeric and tetrameric complexes with unclear biological significance. The MCM2-7 hexamer is the proposed physiological active complex.

neXtProt entry for MCM5 Gene

Post-translational modifications for MCM5 Gene

  • Ubiquitination at Lys228, Lys337, Lys387, Lys396, Lys407, Lys471, Lys499, Lys627, and Lys696
  • Modification sites at PhosphoSitePlus

Other Protein References for MCM5 Gene

No data available for DME Specific Peptides for MCM5 Gene

Domains & Families for MCM5 Gene

Gene Families for MCM5 Gene

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

Protein Domains for MCM5 Gene

Blocks:
  • MCM family
  • Mini-chromosome maintenance (MCM) protein 5 signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MCM5 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ92902, Homo sapiens MCM5 minichromosome maintenance deficient 5, celldivision cycle 46 (S. cerevisiae) (MCM5), mRNA (B1AHB0_HUMAN)
  • P1-CDC46 (MCM5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P33992

UniProtKB/Swiss-Prot:

MCM5_HUMAN :
  • Belongs to the MCM family.
Family:
  • Belongs to the MCM family.
genes like me logo Genes that share domains with MCM5: view

Function for MCM5 Gene

Molecular function for MCM5 Gene

UniProtKB/Swiss-Prot Function:
Acts as component of the MCM2-7 complex (MCM complex) which is the putative replicative helicase essential for 'once per cell cycle' DNA replication initiation and elongation in eukaryotic cells. The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differentially to the complex helicase activity (By similarity). Interacts with MCMBP.
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;.
GENATLAS Biochemistry:
DNA replication licensing factor,cell division cycle 46 (CDC46) homolog,involved in an early step of DNA replication,participating in the cell cycle control of genome duplication

Enzyme Numbers (IUBMB) for MCM5 Gene

Phenotypes From GWAS Catalog for MCM5 Gene

Gene Ontology (GO) - Molecular Function for MCM5 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:0003688 DNA replication origin binding IEA,IBA 21873635
GO:0003697 single-stranded DNA binding IBA 21873635
genes like me logo Genes that share ontologies with MCM5: view
genes like me logo Genes that share phenotypes with MCM5: view

Human Phenotype Ontology for MCM5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MCM5

Clone Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for MCM5 Gene

Localization for MCM5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MCM5 Gene

Nucleus. Cytoplasm, cytosol.

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 MCM5 gene
Compartment Confidence
nucleus 5
cytosol 4
cytoskeleton 2
mitochondrion 2
plasma membrane 1
extracellular 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MCM5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000784 nuclear chromosome, telomeric region HDA 19135898
GO:0005634 nucleus IBA,IEA 21873635
GO:0005654 nucleoplasm TAS,IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with MCM5: view

Pathways & Interactions for MCM5 Gene

genes like me logo Genes that share pathways with MCM5: view

Pathways by source for MCM5 Gene

2 GeneGo (Thomson Reuters) pathways for MCM5 Gene
  • Cell cycle Start of DNA replication in early S phase
  • Immune response IFN gamma signaling pathway
2 Qiagen pathways for MCM5 Gene
  • Cell Cycle Control of Chromosomal Replication
  • JAK-STAT Pathway

Gene Ontology (GO) - Biological Process for MCM5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000082 G1/S transition of mitotic cell cycle TAS --
GO:0000727 double-strand break repair via break-induced replication IBA 21873635
GO:0006260 DNA replication TAS,IEA --
GO:0006267 pre-replicative complex assembly involved in nuclear cell cycle DNA replication IBA 21873635
GO:0006270 DNA replication initiation IBA,IEA 21873635
genes like me logo Genes that share ontologies with MCM5: view

No data available for SIGNOR curated interactions for MCM5 Gene

Drugs & Compounds for MCM5 Gene

(3) Drugs for MCM5 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, Full agonist, Antagonist, Pore Blocker, Potentiation 0

(1) Additional Compounds for MCM5 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
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
genes like me logo Genes that share compounds with MCM5: view

Transcripts for MCM5 Gene

mRNA/cDNA for MCM5 Gene

1 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
10 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 MCM5

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MCM5 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^
SP1: - - - - -
SP2: - - - - - -
SP3: - -
SP4:
SP5: -
SP6: - - - -
SP7:
SP8: -
SP9: - - - - - - - - - - - - -
SP10: -

ExUns: 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for MCM5 Gene

GeneLoc Exon Structure for
MCM5

Expression for MCM5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MCM5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MCM5 Gene

This gene is overexpressed in Liver (35.2) and Breast (23.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MCM5 Gene



Protein tissue co-expression partners for MCM5 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MCM5

SOURCE GeneReport for Unigene cluster for MCM5 Gene:

Hs.517582

Evidence on tissue expression from TISSUES for MCM5 Gene

  • Nervous system(4.5)
  • Skin(3.9)
  • Blood(2.8)
  • Eye(2.8)
  • Spleen(2.4)
  • Bone marrow(2.3)
  • Intestine(2.2)
  • Liver(2.1)
genes like me logo Genes that share expression patterns with MCM5: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MCM5 Gene

Orthologs for MCM5 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MCM5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MCM5 31 30
  • 99.55 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MCM5 31
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MCM5 31 30
  • 91.95 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MCM5 31 30
  • 91.92 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Mcm5 17 31 30
  • 88.24 (n)
rat
(Rattus norvegicus)
Mammalia Mcm5 30
  • 87.64 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MCM5 31
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves MCM5 31 30
  • 82.65 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MCM5 31
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mcm5 30
  • 75.43 (n)
Str.332 30
African clawed frog
(Xenopus laevis)
Amphibia MGC68977 30
zebrafish
(Danio rerio)
Actinopterygii mcm5 31 30 30
  • 73.12 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13677 30
fruit fly
(Drosophila melanogaster)
Insecta Mcm5 31 32 30
  • 67.12 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004408 30
  • 65.84 (n)
worm
(Caenorhabditis elegans)
Secernentea mcm-5 31 32 30
  • 58.91 (n)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR276W 30
  • 57.32 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D09262g 30
  • 52.04 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MCM5 33 31 30
  • 51.32 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons MCM5 30
  • 51.49 (n)
soybean
(Glycine max)
eudicotyledons Gma.11296 30
rice
(Oryza sativa)
Liliopsida Os02g0797400 30
  • 55.65 (n)
wheat
(Triticum aestivum)
Liliopsida Ta.3618 30
barley
(Hordeum vulgare)
Liliopsida Hv.2648 30
bread mold
(Neurospora crassa)
Ascomycetes NCU01171 30
  • 57.85 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mcm5 30
  • 50.78 (n)
sea squirt
(Ciona savignyi)
Ascidiacea Cin.13790 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13790 30
Species where no ortholog for MCM5 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for MCM5 Gene

ENSEMBL:
Gene Tree for MCM5 (if available)
TreeFam:
Gene Tree for MCM5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MCM5: view image

Paralogs for MCM5 Gene

Paralogs for MCM5 Gene

(4) SIMAP similar genes for MCM5 Gene using alignment to 6 proteins:

  • MCM5_HUMAN
  • B1AHA9_HUMAN
  • B1AHB0_HUMAN
  • B1AHB1_HUMAN
  • B1AHB2_HUMAN
  • F8WFD7_HUMAN
genes like me logo Genes that share paralogs with MCM5: view

Variants for MCM5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MCM5 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
712288 Benign: not provided 35,423,317(+) C/T SYNONYMOUS_VARIANT
715986 Likely Benign: not provided 35,413,971(+) G/A SYNONYMOUS_VARIANT
720635 Benign: not provided 35,423,257(+) C/T SYNONYMOUS_VARIANT
741071 Likely Benign: not provided 35,408,459(+) C/T SYNONYMOUS_VARIANT
770676 Benign: not provided 35,400,612(+) C/T INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for MCM5 Gene

Structural Variations from Database of Genomic Variants (DGV) for MCM5 Gene

Variant ID Type Subtype PubMed ID
nsv520686 CNV loss 19592680

Variation tolerance for MCM5 Gene

Residual Variation Intolerance Score: 76.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.92; 59.44% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MCM5 Gene

Human Gene Mutation Database (HGMD)
MCM5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MCM5

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MCM5 Gene

Disorders for MCM5 Gene

MalaCards: The human disease database

(9) MalaCards diseases for MCM5 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
meier-gorlin syndrome 8
  • mgors8
genitourinary tract anomalies
desmoid tumor
  • desmoid disease, hereditary
melanoacanthoma
meier-gorlin syndrome 1
  • eps
- elite association - COSMIC cancer census association via MalaCards
Search MCM5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MCM5_HUMAN
  • Meier-Gorlin syndrome 8 (MGORS8) [MIM:617564]: A form of Meier-Gorlin syndrome, a syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal. MGORS8 inheritance is autosomal recessive. {ECO:0000269 PubMed:28198391}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MCM5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MCM5: view

No data available for Genatlas for MCM5 Gene

Publications for MCM5 Gene

  1. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 2 3 4 54
  2. Coding sequence and chromosome mapping of the human gene (CDC46) for replication protein hCdc46/Mcm5. (PMID: 8751386) Paul R … Knippers R (Cytogenetics and cell genetics 1996) 2 3 23 54
  3. The P1 family: a new class of nuclear mammalian proteins related to the yeast Mcm replication proteins. (PMID: 8265339) Hu B … Knippers R (Nucleic acids research 1993) 3 4 23 54
  4. MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome. (PMID: 28198391) Vetro A … Zuffardi O (European journal of human genetics : EJHG 2017) 3 4 54
  5. Centrosome-related genes, genetic variation, and risk of breast cancer. (PMID: 20508983) Olson JE … Couch FJ (Breast cancer research and treatment 2011) 3 41 54

Products for MCM5 Gene

Sources for MCM5 Gene