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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
GMNN
geminin DNA replication inhibitor
Chromosome 6 Β· 6p22.3
NCBI Gene: 51053Ensembl: ENSG00000112312.11HGNC: HGNC:17493UniProt: O75496
140PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
chromatin bindingnegative regulation of DNA-templated transcriptionnegative regulation of mitotic DNA replication initiationnegative regulation of DNA-templated DNA replicationEar-patella-short stature syndromeMeier-Gorlin syndromeneurodegenerative diseasemicrocephalic primordial dwarfism
✦AI Summary

GMNN (geminin) is a critical negative regulator of DNA replication that prevents genomic instability by inhibiting replication initiation. During G1 phase, GMNN binds to and inactivates CDT1, preventing the incorporation of MCM2-7 replicative helicases into pre-replication complexes 1. Additionally, GMNN inhibits the histone acetyltransferase activity of KAT7/HBO1 in a CDT1-dependent manner, further suppressing DNA replication licensing and histone H4 acetylation [UniProt annotation]. GMNN also functions as a transcriptional regulator, repressing Hox protein activity to coordinate cell proliferation control [UniProt annotation]. Cell-cycle regulation of GMNN is precise: the protein accumulates during G1/S phases and is degraded at the metaphase-anaphase transition, allowing re-licensing of origins for the subsequent cell cycle [UniProt annotation]. Pathological mutations in GMNN cause Meier-Gorlin syndrome 6 and female infertility characterized by preimplantation embryo arrest. Recently, rare missense mutations were identified in infertile women that impaired GMNN-CDT1 binding, resulting in DNA re-replication, CHK1 activation, and cell cycle disturbance 2. In hepatocellular carcinoma, GMNN is upregulated and serves as a biomarker for microvascular invasion and adverse prognosis 3, suggesting dysregulation contributes to cancer progression.

Sources cited
1
MCM complex acts as replicative helicase and is loaded during DNA replication licensing; CDKs coordinate replication initiation with cell cycle events
PMID: 15353274
2
GMNN mutations cause preimplantation embryo arrest by impairing CDT1 binding, activating CHK1, causing DNA damage and cell cycle disturbance
PMID: 40455380
3
GMNN is part of a 6-gene signature associated with microvascular invasion in hepatocellular carcinoma and overall survival
PMID: 34624411
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
Ear-patella-short stature syndromeOpen Targets
0.72Strong
Meier-Gorlin syndromeOpen Targets
0.45Moderate
neurodegenerative diseaseOpen Targets
0.37Weak
microcephalic primordial dwarfismOpen Targets
0.37Weak
lysosomal storage diseaseOpen Targets
0.29Weak
alcohol drinkingOpen Targets
0.27Weak
genetic disorderOpen Targets
0.19Weak
early-onset non-syndromic cataractOpen Targets
0.11Weak
neoplasmOpen Targets
0.11Weak
Total congenital cataractOpen Targets
0.10Suggestive
Partial congenital cataractOpen Targets
0.10Suggestive
Cataract-microcornea syndromeOpen Targets
0.09Suggestive
early-onset nuclear cataractOpen Targets
0.09Suggestive
early-onset zonular cataractOpen Targets
0.09Suggestive
isolated ectopia lentisOpen Targets
0.08Suggestive
hereditary hyperferritinemia with congenital cataractsOpen Targets
0.08Suggestive
pulverulent cataractOpen Targets
0.08Suggestive
Posterior polar cataractOpen Targets
0.08Suggestive
gastric cancerOpen Targets
0.08Suggestive
Cataract with Y-shaped suture opacitiesOpen Targets
0.07Suggestive
Meier-Gorlin syndrome 6UniProt
Pathogenic Variants3
NM_015895.5(GMNN):c.50A>G (p.Lys17Arg)Likely pathogenic
Meier-Gorlin syndrome|Meier-Gorlin syndrome 6
β˜…β˜†β˜†β˜†2015β†’ Residue 17
NM_015895.5(GMNN):c.16A>T (p.Lys6Ter)Pathogenic
Meier-Gorlin syndrome|Meier-Gorlin syndrome 6
β˜…β˜†β˜†β˜†2015β†’ Residue 6
NM_015895.5(GMNN):c.35_38del (p.Ile12fs)Pathogenic
Meier-Gorlin syndrome|Meier-Gorlin syndrome 6
β˜…β˜†β˜†β˜†2015β†’ Residue 12
View on ClinVar β†—
Related Genes
MCM5Protein interaction100%CDK2Protein interaction100%MCM4Protein interaction100%ORC1Protein interaction100%CCNA2Protein interaction100%MCM7Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
16%
Liver
14%
Ovary
12%
Lung
7%
Heart
6%
Gene Interaction Network
Click a node to explore
GMNNMCM5CDK2MCM4ORC1CCNA2MCM7
PROTEIN STRUCTURE
Preparing viewer…
PDB1T6F Β· 1.47 Γ… Β· X-ray
View on RCSB β†—
RankingsWhere GMNN stands among ~20K protein-coding genes
  • #3,277of 20,598
    Most Researched140 Β· top quartile
  • #3,961of 5,498
    Most Pathogenic Variants3
Genes detectedGMNN
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Visualizing spatiotemporal dynamics of multicellular cell-cycle progression.
PMID: 18267078
Cell Β· 2008
1.00
2
Multiple mechanisms for licensing human replication origins.
PMID: 39604729
Nature Β· 2024
0.90
3
Integrating single-cell RNA sequencing, WGCNA, and machine learning to identify key biomarkers in hepatocellular carcinoma.
PMID: 40169794
Sci Rep Β· 2025
0.80
4
Computational analysis for identification of early diagnostic biomarkers and prognostic biomarkers of liver cancer based on GEO and TCGA databases and studies on pathways and biological functions affecting the survival time of liver cancer.
PMID: 34238253
BMC Cancer Β· 2021
0.70
5
GMNN mutations cause female infertility characterized by preimplantation embryo arrest through regulating DNA re-replication.
PMID: 40455380
Sci China Life Sci Β· 2025
0.60