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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... See more...
Aliases for GMNN Gene
External Ids for GMNN Gene
- HGNC: 17493
- Entrez Gene: 51053
- Ensembl: ENSG00000112312
- OMIM: 602842
- UniProtKB: O75496
Previous GeneCards Identifiers for GMNN Gene
- GC06P024832
- GC06P024883
- GC06P024778
- GC06P024725
Summaries 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 Cell cycle_Role of APC in cell cycle regulation. Gene Ontology (GO) annotations related to this gene include transcription corepressor activity and repressing transcription factor binding. An important paralog of this gene is MCIDAS.
UniProtKB/Swiss-Prot Summary for GMNN Gene
-
Inhibits DNA replication by preventing the incorporation of MCM complex into pre-replication complex (pre-RC) (PubMed:9635433, PubMed:14993212, PubMed:20129055, PubMed:24064211). It is degraded during the mitotic phase of the cell cycle (PubMed:9635433, PubMed:14993212, PubMed:24064211). Its destruction at the metaphase-anaphase transition permits replication in the succeeding cell cycle (PubMed:9635433, PubMed:14993212, PubMed:24064211). Inhibits histone acetyltransferase activity of KAT7/HBO1 in a CDT1-dependent manner, inhibiting histone H4 acetylation and DNA replication licensing (PubMed:20129055). Inhibits the transcriptional activity of a subset of Hox proteins, enrolling them in cell proliferative control (PubMed:22615398).
Additional gene information for GMNN Gene
- HGNC(17493)
- Entrez Gene(51053)
- Ensembl(ENSG00000112312)
- OMIM(602842)
- UniProtKB(O75496)
- Open Targets Platform(ENSG00000112312)
- Monarch Initiative
- Search for GMNN at DataMed
- Search for GMNN at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GMNN Gene
Genomics for GMNN Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for GMNN Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around GMNN on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GMNN
- Top Transcription factor binding sites by QIAGEN in the GMNN gene promoter:
-
- AhR
- FOXD3
- FOXJ2
- FOXJ2 (long isoform)
- HNF-3beta
- Msx-1
- p53
- PPAR-gamma1
- PPAR-gamma2
- Sox5
Genomic Locations for GMNN Gene
Genomic Locations for GMNN Gene
- chr6:24,774,931-24,786,099
- (GRCh38/hg38)
- Size:
- 11,169 bases
- Orientation:
- Plus strand
- chr6:24,775,159-24,786,327
- (GRCh37/hg19)
- 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:
-
- 6p22.3 by HGNC
- 6p22.3 by Entrez Gene
- 6p22.3 by Ensembl
GMNN Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- B3KMM8
- Q9H1Z1
Protein attributes for GMNN Gene
- Size:
- 209 amino acids
- Molecular mass:
- 23565 Da
- Quaternary structure:
-
- Homotetramer (PubMed:15313623, PubMed:15260975, PubMed:15378034, PubMed:19906994). Interacts with CDT1; this inhibits binding of the MCM complex to origins of replication (PubMed:14993212, PubMed:21543332, PubMed:15260975, PubMed:19906994). The complex with CDT1 exists in two forms, a 'permissive' heterotrimer and an 'inhibitory' heterohexamer (PubMed:14993212, PubMed:15260975, PubMed:19906994). Interacts (via coiled-coil domain) with IDAS (via coiled-coil domain); this targets GMNN to the nucleus (PubMed:21543332). The heterodimer formed by GMNN and MCIDAS has much lower affinity for CDT1 than the GMNN homodimer (PubMed:24064211). Interacts with a subset of Hox proteins, affinity increasing from anterior to posterior types, the strongest interaction being with HOXB1, HOXC9 and HOXD10 (PubMed:22615398). Interacts with LRWD1 from G1/S to mitosis (PubMed:22645314).
Protein Expression 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 Lys50
- NX_O75496 (NX_O75496-1)
- Modification sites at PhosphoSitePlus
Other Protein References for GMNN Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences Geminin Monoclonal Antibody and Geminin Antibody
- G Biosciences Immunotag™ GMNN Antibody
- HUABIO Geminin Antibody (R1204-2)
- Novus Biologicals Antibodies for GMNN
-
Abcam antibodies for GMNN
- Invitrogen Antibodies for GMNN (AFLGC-GMNN)
- antibodies-online: Show 39 available GMNN Antibodies ranked by validation data
- Compare Top GMNN Antibodies
-
Recommended
-
Santa Cruz Biotechnology (SCBT) Antibodies for GMNN
Protein Products
-
OriGene Purified Proteins for GMNN
- Search Origene for MassSpec and Protein Over-expression Lysates for GMNN
- Origene Custom Protein Services for GMNN
- ProSpec Recombinant Proteins for GMNN
-
Signalway Proteins for GMNN
-
Abcam proteins for GMNN
Assay Products
- Novus Biologicals ELISA Kits for GMNN
- antibodies-online: Show 4 available GMNN Elisa Kits ranked by validation data
- Compare Top GMNN Elisa Kits
-
Quality Products:
-
Abcam assays for GMNN
No data available for DME Specific Peptides for GMNN Gene
Domains & Families for GMNN Gene
Gene Families for GMNN Gene
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Predicted intracellular proteins
Protein Domains for GMNN Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for GMNN Gene
- GenScript: Design optimal peptide antigens:
-
- Geminin (GEMI_HUMAN)
Graphical View of Domain Structure for InterPro Entry
O75496- Family:
-
- Belongs to the geminin family.
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) (PubMed:9635433, PubMed:14993212, PubMed:20129055, PubMed:24064211). It is degraded during the mitotic phase of the cell cycle (PubMed:9635433, PubMed:14993212, PubMed:24064211). Its destruction at the metaphase-anaphase transition permits replication in the succeeding cell cycle (PubMed:9635433, PubMed:14993212, PubMed:24064211). Inhibits histone acetyltransferase activity of KAT7/HBO1 in a CDT1-dependent manner, inhibiting histone H4 acetylation and DNA replication licensing (PubMed:20129055). Inhibits the transcriptional activity of a subset of Hox proteins, enrolling them in cell proliferative control (PubMed:22615398).
Phenotypes From GWAS Catalog for GMNN Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003682 | chromatin binding | IDA | 11125146 |
| 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 | -- |
Phenotypes for GMNN Gene
- MGI mutant phenotypes for GMNN:
- inferred from 6 alleles
- GenomeRNAi human phenotypes for GMNN:
-
- no effect
- Decreased viability
- Decreased viability ratio
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Increased Nanog expression
- Decreased Sindbis virus (SINV) infection
- Increased viability with MLN4924 (a NAE inhibitor)
- Decreased ionizing radiation sensitivity
- Two nuclei (binuclear)
- Decreased TP53 protein expression ratio (wild-type / TP53 knockout cells)
- Increased circadian rhythm amplitude
Animal Models for GMNN Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for GMNN - Select products 50% OFF >
- * GMNN CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for GMNN
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GMNN
-
Santa Cruz Biotechnology (SCBT) CRISPR for GMNN
miRNA for GMNN Gene
- miRTarBase miRNAs that target GMNN
-
- hsa-miR-449a (MIRT006345)
- hsa-miR-449b-5p (MIRT006352)
- hsa-miR-193b-3p (MIRT016570)
- hsa-miR-26b-5p (MIRT029967)
- hsa-miR-324-5p (MIRT043150)
- hsa-miR-132-3p (MIRT762535)
- hsa-miR-212-3p (MIRT763821)
- hsa-miR-3133 (MIRT764894)
- hsa-miR-3681-5p (MIRT766759)
- hsa-miR-3689d (MIRT767069)
- hsa-miR-421 (MIRT767935)
- hsa-miR-4282 (MIRT768366)
- hsa-miR-4511 (MIRT769891)
- hsa-miR-4709-5p (MIRT771384)
- hsa-miR-513c-5p (MIRT773414)
- hsa-miR-514b-5p (MIRT773431)
- hsa-miR-545-5p (MIRT774025)
- hsa-miR-5571-5p (MIRT774668)
- hsa-miR-6849-5p (MIRT780376)
- hsa-miR-6851-5p (MIRT780406)
- hsa-miR-7847-3p (MIRT782145)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GMNN
- Browse OriGene Inhibitory RNA Products For GMNN
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GMNN
Clone Products
- Applied Biological Materials (abm): Clones for GMNN - Select products 50% OFF >
- * GMNN as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for GMNN
- Addgene plasmids for GMNN
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GMNN
Cell Line Products
-
Horizon Cell Lines for GMNN
No data available for Enzyme Numbers (IUBMB) , 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. {ECO:0000269 PubMed:21543332}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| extracellular | 2 |
| cytoskeleton | 2 |
| plasma membrane | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
- Nucleoplasm (4)
| 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 | -- |
Pathways & Interactions for GMNN Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Regulation of activated PAK-2p34 by proteasome mediated degradation |
.93
|
.80
|
| 2 | Cell Cycle, Mitotic |
.83
|
|
| 3 | E2F mediated regulation of DNA replication |
.64
|
Cell cycle Start of DNA replication in early S phase
.53
|
| 4 | DNA Damage | ||
| 5 | Cell cycle_Role of APC in cell cycle regulation |
Cell cycle_Role of APC in cell cycle regulation
-
|
|
Pathways by source for GMNN Gene
1 BioSystems pathway for GMNN Gene
2 GeneGo (Thomson Reuters) pathways for GMNN Gene
- Cell cycle Start of DNA replication in early S phase
- Cell cycle_Role of APC in cell cycle regulation
1 Cell Signaling Technology pathway for GMNN Gene
Interacting Proteins for GMNN Gene
Selected Interacting proteins:
O75496-GEMI_HUMAN
ENSP00000230056
for GMNN Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for GMNN
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000082 | G1/S transition of mitotic cell cycle | TAS | -- |
| GO:0006275 | regulation of DNA replication | IMP | 17234884 |
| GO:0007049 | cell cycle | IEA | -- |
| GO:0008156 | negative regulation of DNA replication | IDA | 9635433 |
| GO:0009887 | animal organ morphogenesis | IEA | -- |
No data available for SIGNOR curated interactions for GMNN Gene
Transcripts for GMNN Gene
mRNA/cDNA for GMNN Gene
- 4 REFSEQ mRNAs :
- 12 NCBI additional mRNA sequence :
- 7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000230056 1263 nts (view in UCSC)
- ENST00000356509 1133 nts (view in UCSC)
- ENST00000378054 653 nts (view in UCSC)
- ENST00000378059 688 nts (view in UCSC)
- ENST00000468943 679 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for GMNN - Select products 50% OFF >
- * GMNN CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for GMNN
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GMNN
-
Santa Cruz Biotechnology (SCBT) CRISPR for GMNN
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GMNN
- Browse OriGene Inhibitory RNA Products For GMNN
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GMNN
Clone Products
- Applied Biological Materials (abm): Clones for GMNN - Select products 50% OFF >
- * GMNN as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for GMNN
- Addgene plasmids for GMNN
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GMNN
| 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
Expression 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).
This gene is overexpressed in Fetal ovary (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GMNN Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GMNN
SOURCE GeneReport for Unigene cluster for GMNN Gene:
Hs.234896Evidence on tissue expression from TISSUES for GMNN Gene
- Lung(4.4)
- Skin(2.8)
- Intestine(2.6)
- Nervous system(2.6)
- Pancreas(2.6)
- Blood(2.6)
- Kidney(2.4)
- Bone marrow(2.3)
- Lymph node(2.3)
- Liver(2.2)
Primer Products
-
OriGene qPCR primer pairs for GMNN
-
OriGene qPCR primer pairs and template standards for GMNN
Gene Expression Assay Products
No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GMNN Gene
Orthologs for GMNN Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | GMNN 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | GMNN 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | GMNN 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Gmnn 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Gmnn 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | GMNN 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | GMNN 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | GMNN 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | gmnn 30 |
|
||
| Str.6403 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.461 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | gmnn 30 31 |
|
OneToOne | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.5193 31 |
|
OneToOne |
- Species where no ortholog for GMNN was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for GMNN: view image
Paralogs for GMNN Gene
Pseudogenes.org Pseudogenes for GMNN Gene
Variants for GMNN Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GMNN Gene
| SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 726182 | Benign: not provided | 24,784,139(+) | G/A | SYNONYMOUS_VARIANT | |
| 730453 | Benign: not provided | 24,784,176(+) | A/G | INTRON_VARIANT | |
| 743504 | Likely Benign: not provided | 24,777,258(+) | T/C | SYNONYMOUS_VARIANT | |
| 744907 | Likely Benign: not provided | 24,784,452(+) | A/G | SYNONYMOUS_VARIANT | |
| 751455 | Benign: not provided | 24,785,777(+) | C/T | MISSENSE_VARIANT |
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)
Additional Variant Information for GMNN Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GMNN Gene
Disorders for GMNN Gene
(8) MalaCards diseases for GMNN Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| meier-gorlin syndrome 6 |
|
|
| meier-gorlin syndrome 1 |
|
|
| genitourinary tract anomalies |
|
|
| oligodendroglioma |
|
|
| melanoacanthoma |
|
|
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.
Additional Disease Information for GMNN
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for GMNN Gene
Publications for GMNN Gene
- Geminin, an inhibitor of DNA replication, is degraded during mitosis. (PMID: 9635433) McGarry TJ … Kirschner MW (Cell 1998) 2 3 4 23
- Quaternary structure of the human Cdt1-Geminin complex regulates DNA replication licensing. (PMID: 19906994) De Marco V … Perrakis A (Proceedings of the National Academy of Sciences of the United States of America 2009) 3 4 23
- Cdt1 phosphorylation by cyclin A-dependent kinases negatively regulates its function without affecting geminin binding. (PMID: 14993212) Sugimoto N … Fujita M (The Journal of biological chemistry 2004) 3 4 23
- 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 (Molecular cell 2004) 3 4 23
- Crystal structure of the coiled-coil dimerization motif of geminin: structural and functional insights on DNA replication regulation. (PMID: 15313623) Thépaut M … Padilla A (Journal of molecular biology 2004) 3 4 23
ExternalLinks
Products for GMNN Gene
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for GMNN
- Search Origene for MassSpec and Protein Over-expression Lysates for GMNN
- Origene Custom Protein Services for GMNN
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GMNN
- Browse OriGene Inhibitory RNA Products For GMNN
- OriGene qPCR primer pairs for GMNN
- OriGene qPCR primer pairs and template standards for GMNN
- OriGene CRISPR knockouts for GMNN
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For GMNN
- Sino Biological Human cDNA Clone for GMNN
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for GMNN
- Novus Biologicals proteins and lysates for GMNN
- Novus Biologicals ELISA Kits for GMNN
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for GMNN
- Abcam proteins for GMNN
- Abcam assays for GMNN
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- VectorBuilder Custom and pre-made DNA vectors for GMNN (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for GMNN (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for GMNN (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for GMNN CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for GMNN
- Addgene plasmids for GMNN
- antibodies-online: Show 39 available GMNN Antibodies ranked by validation data
- Compare Top GMNN Antibodies
- Recommended
- antibodies-online: Show 4 available GMNN Elisa Kits ranked by validation data
- Compare Top GMNN Elisa Kits
- Quality Products:
- antibodies-online: Show 16 available GMNN Proteins ranked by validation data
- Compare Top GMNN Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for GMNN
- Search Santa Cruz Biotechnology (SCBT) for GMNN siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for GMNN
- Horizon Cell Lines for GMNN
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GMNN
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GMNN
- Search GeneCopoeia for miRNA 3'UTR Target clone products for GMNN
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GMNN
- Signalway Proteins for GMNN
Sources for GMNN Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB