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Aliases for GMNN Gene

Aliases for GMNN Gene

  • Geminin, DNA Replication Inhibitor 2 3 5
  • Geminin 3
  • MGORS6 3
  • Gem 3

External Ids for GMNN Gene

Previous GeneCards Identifiers for GMNN Gene

  • GC06P024832
  • GC06P024883
  • GC06P024778
  • GC06P024725

Summaries for GMNN Gene

Entrez Gene Summary for GMNN Gene

  • This gene encodes a protein that plays a critical role in cell cycle regulation. The encoded protein inhibits DNA replication by binding to DNA replication factor Cdt1, preventing the incorporation of minichromosome maintenance proteins into the pre-replication complex. The encoded protein is expressed during the S and G2 phases of the cell cycle and is degraded by the anaphase-promoting complex during the metaphase-anaphase transition. Increased expression of this gene may play a role in several malignancies including colon, rectal and breast cancer. Alternatively spliced transcript variants have been observed for this gene, and two pseudogenes of this gene are located on the short arm of chromosome 16. [provided by RefSeq, Oct 2011]

GeneCards Summary for GMNN Gene

GMNN (Geminin, DNA Replication Inhibitor) is a Protein Coding gene. Diseases associated with GMNN include Meier-Gorlin Syndrome 6 and Meier-Gorlin Syndrome 1. Among its related pathways are Regulation of activated PAK-2p34 by proteasome mediated degradation and E2F mediated regulation of DNA replication. GO annotations related to this gene include transcription corepressor activity and repressing transcription factor binding.

UniProtKB/Swiss-Prot for GMNN Gene

  • Inhibits DNA replication by preventing the incorporation of MCM complex into pre-replication complex (pre-RC). It is degraded during the mitotic phase of the cell cycle. Its destruction at the metaphase-anaphase transition permits replication in the succeeding cell cycle.

  • Inhibits the transcriptional activity of a subset of Hox proteins, enrolling them in cell proliferative control.

Gene Wiki entry for GMNN Gene

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

Genomics for GMNN Gene

Regulatory Elements for GMNN Gene

Enhancers for GMNN 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
GH06F024742 1.3 FANTOM5 ENCODE 12.1 -31.4 -31386 2.6 TBP HDAC1 PKNOX1 NFRKB YY1 ZNF335 ZNF766 GATA2 SCRT2 RCOR1 C6orf62 GMNN KIAA0319 TDP2 KRT8P43 LOC105374978 LOC100289381
GH06F024778 1.2 Ensembl ENCODE 6.1 +4.5 4548 1.3 ELF3 TBP MLX ARID4B RAD21 YY1 RARA FOS MIXL1 TBX21 C6orf62 NUP50P2 GMNN C6orf229
GH06F024773 1.2 ENCODE 6.1 +1.1 1133 4.8 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF263 SP3 NFYC NUP50P2 ENSG00000272402 GMNN C6orf229
GH06F024683 0.6 ENCODE 10.8 -90.6 -90641 1.9 NFIL3 ARID1B JUND SMARCA4 TAL1 IKZF1 DPF2 MIXL1 TDP2 KIAA0319 GMNN ENSG00000272345 ACOT13
GH06F024770 0.9 ENCODE 6 -3.4 -3424 1.6 ELF3 ATF1 MLX ARID4B DMAP1 THRB RAD21 ZSCAN9 RARA CREM C6orf62 GMNN ENSG00000272402 LOC100289381
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GMNN on UCSC Golden Path with GeneCards custom track

Promoters for GMNN Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001213704 1269 4001 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF263 SP3 NFYC

Genomic Location for GMNN Gene

Chromosome:
6
Start:
24,774,931 bp from pter
End:
24,786,099 bp from pter
Size:
11,169 bases
Orientation:
Plus strand

Genomic View for GMNN Gene

Genes around GMNN on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for GMNN Gene

Proteins for GMNN Gene

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

    Protein Symbol:
    O75496-GEMI_HUMAN
    Recommended name:
    Geminin
    Protein Accession:
    O75496
    Secondary Accessions:
    • B3KMM8
    • Q9H1Z1

    Protein attributes for GMNN Gene

    Size:
    209 amino acids
    Molecular mass:
    23565 Da
    Quaternary structure:
    • Homotetramer. Interacts with CDT1; this inhibits binding of the MCM complex to origins of replication. The complex with CDT1 exists in two forms, a "permissive" heterotrimer and an "inhibitory" heterohexamer. Interacts (via coiled-coil domain) with IDAS (via coiled-coil domain); this targets GMNN to the nucleus. The heterodimer formed by GMNN and MCIDAS has much lower affinity for CDT1 than the GMNN homodimer. Interacts with a subset of Hox proteins, affinity increasing from anterior to posterior types, the strongest interaction being with HOXB1, HOXC9 and HOXD10. Interacts with LRWD1 from G1/S to mitosis.
    SequenceCaution:
    • Sequence=CAC21511.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GMNN Gene

neXtProt entry for GMNN Gene

Post-translational modifications for GMNN Gene

  • Phosphorylated during mitosis. Phosphorylation at Ser-184 by CK2 results in enhanced binding to Hox proteins and more potent inhibitory effect on Hox transcriptional activity.
  • Ubiquitination at Lys 50
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for GMNN (Geminin)

No data available for DME Specific Peptides for GMNN Gene

Domains & Families for GMNN Gene

Protein Domains for GMNN Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GMNN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O75496

UniProtKB/Swiss-Prot:

GEMI_HUMAN :
  • Belongs to the geminin family.
Family:
  • Belongs to the geminin family.
genes like me logo Genes that share domains with GMNN: view

No data available for Gene Families for GMNN Gene

Function for GMNN Gene

Molecular function for GMNN Gene

UniProtKB/Swiss-Prot Function:
Inhibits DNA replication by preventing the incorporation of MCM complex into pre-replication complex (pre-RC). It is degraded during the mitotic phase of the cell cycle. Its destruction at the metaphase-anaphase transition permits replication in the succeeding cell cycle.
UniProtKB/Swiss-Prot Function:
Inhibits the transcriptional activity of a subset of Hox proteins, enrolling them in cell proliferative control.

Gene Ontology (GO) - Molecular Function for GMNN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003714 transcription corepressor activity IEA --
GO:0005515 protein binding IPI 11125146
GO:0042826 histone deacetylase binding IPI 16924111
GO:0070491 repressing transcription factor binding IEA --
genes like me logo Genes that share ontologies with GMNN: view
genes like me logo Genes that share phenotypes with GMNN: view

Animal Models for GMNN Gene

MGI Knock Outs for GMNN:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GMNN Gene

Localization for GMNN Gene

Subcellular locations from UniProtKB/Swiss-Prot for GMNN Gene

Cytoplasm. Nucleus. Note=Mainly cytoplasmic but can be relocalized to the nucleus.

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 GMNN gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 1

Gene Ontology (GO) - Cellular Components for GMNN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 21543332
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA,IDA 21543332
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with GMNN: view

Pathways & Interactions for GMNN Gene

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

Pathways by source for GMNN Gene

Gene Ontology (GO) - Biological Process for GMNN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006275 regulation of DNA replication IEA --
GO:0006461 protein complex assembly IEA --
GO:0007049 cell cycle IEA --
GO:0008156 negative regulation of DNA replication IEA,IDA 9635433
GO:0009887 animal organ morphogenesis IEA --
genes like me logo Genes that share ontologies with GMNN: view

No data available for SIGNOR curated interactions for GMNN Gene

Drugs & Compounds for GMNN Gene

(1) Drugs for GMNN Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with GMNN: view

Transcripts for GMNN Gene

Unigene Clusters for GMNN Gene

Geminin, DNA replication inhibitor:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c · 8d · 8e
SP1: - - - - -
SP2: - - - -
SP3: - -
SP4: - - - - -
SP5: - - - - - -
SP6: -
SP7:
SP8: -

Relevant External Links for GMNN Gene

GeneLoc Exon Structure for
GMNN
ECgene alternative splicing isoforms for
GMNN

Expression for GMNN Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Pancreas (x4.7).

Protein differential expression in normal tissues from HIPED for GMNN Gene

This gene is overexpressed in Fetal ovary (69.0).

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



Protein tissue co-expression partners for GMNN Gene

NURSA nuclear receptor signaling pathways regulating expression of GMNN Gene:

GMNN

SOURCE GeneReport for Unigene cluster for GMNN Gene:

Hs.234896
genes like me logo Genes that share expression patterns with GMNN: view

No data available for mRNA Expression by UniProt/SwissProt for GMNN Gene

Orthologs for GMNN Gene

This gene was present in the common ancestor of chordates.

Orthologs for GMNN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GMNN 34 35
  • 99.36 (n)
cow
(Bos Taurus)
Mammalia GMNN 34 35
  • 86.05 (n)
dog
(Canis familiaris)
Mammalia GMNN 34 35
  • 84.37 (n)
rat
(Rattus norvegicus)
Mammalia Gmnn 34
  • 83.9 (n)
mouse
(Mus musculus)
Mammalia Gmnn 34 16 35
  • 83.25 (n)
oppossum
(Monodelphis domestica)
Mammalia GMNN 35
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GMNN 35
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves GMNN 34 35
  • 66.46 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 53 (a)
OneToMany
-- 35
  • 42 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia gmnn 34
  • 62.91 (n)
Str.6403 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.461 34
zebrafish
(Danio rerio)
Actinopterygii gmnn 34 35
  • 56.46 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5193 35
  • 20 (a)
OneToOne
Species where no ortholog for GMNN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GMNN Gene

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

Paralogs for GMNN Gene

Pseudogenes.org Pseudogenes for GMNN Gene

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

No data available for Paralogs for GMNN Gene

Variants for GMNN Gene

Sequence variations from dbSNP and Humsavar for GMNN Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs864309488 Meier-Gorlin syndrome 6 (MGORS6) [MIM:616835], Pathogenic 24,777,296(+) TATAA(A/G)GGTAT upstream-variant-2KB, reference, missense
rs864309486 Pathogenic 24,777,262(+) GTATG(A/T)AGCAG upstream-variant-2KB, reference, stop-gained
rs864309487 Pathogenic 24,777,281(+) AGAAA(-/TCAA)AGAGA upstream-variant-2KB, reference, frameshift-variant
rs10946726 -- 24,784,811(+) TACAA(C/T)AGATG intron-variant
rs111273224 -- 24,783,405(+) CCACC(A/G)TAGAA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv508396 CNV deletion 20534489
nsv5227 CNV deletion 18451855
nsv830609 CNV gain 17160897

Variation tolerance for GMNN Gene

Residual Variation Intolerance Score: 73.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.74; 83.17% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GMNN Gene

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

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

Disorders for GMNN Gene

MalaCards: The human disease database

(6) MalaCards diseases for GMNN Gene - From: ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
meier-gorlin syndrome 6
  • mgors6
meier-gorlin syndrome 1
  • meier-gorlin syndrome
melanoacanthoma
microtia
dwarfism
- elite association - COSMIC cancer census association via MalaCards
Search GMNN in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GEMI_HUMAN
  • Meier-Gorlin syndrome 6 (MGORS6) [MIM:616835]: 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. {ECO:0000269 PubMed:26637980}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GMNN

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

No data available for Genatlas for GMNN Gene

Publications for GMNN Gene

  1. Geminin, an inhibitor of DNA replication, is degraded during mitosis. (PMID: 9635433) McGarry T.J. … Kirschner M.W. (Cell 1998) 2 3 4 22 64
  2. Crystal structure of the coiled-coil dimerization motif of geminin: structural and functional insights on DNA replication regulation. (PMID: 15313623) Thepaut M. … Padilla A. (J. Mol. Biol. 2004) 3 4 22 64
  3. Cdt1 phosphorylation by cyclin A-dependent kinases negatively regulates its function without affecting geminin binding. (PMID: 14993212) Sugimoto N. … Fujita M. (J. Biol. Chem. 2004) 3 4 22 64
  4. A dimerized coiled-coil domain and an adjoining part of geminin interact with two sites on Cdt1 for replication inhibition. (PMID: 15260975) Saxena S. … Dutta A. (Mol. Cell 2004) 3 4 22 64
  5. De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. (PMID: 26637980) Burrage L.C. … Yang Y. (Am. J. Hum. Genet. 2015) 3 4 64

Products for GMNN Gene

Sources for GMNN Gene

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