GMNN (Geminin) Gene
DNA Replication Inhibitor and Cell Cycle Regulator
Gene Information Card
| Symbol | GMNN |
|---|---|
| Full Name | geminin, DNA replication inhibitor |
| Gene Type | protein-coding |
| Chromosomal Location | 6p22.3 |
| NCBI Gene ID | 51053 ncbi.nlm.nih.gov/gene/51053 |
| Ensembl ID | ENSG00000112312 |
| UniProt ID | O75496 |
| OMIM ID | 608034 |
| HGNC ID | 17493 |
| Aliases | GEM, Geminin |
Description
The GMNN gene encodes geminin, a protein that inhibits DNA replication by binding to and inactivating the replication licensing factor CDT1. Geminin is cell-cycle regulated, being degraded during the G1 phase to allow replication licensing and accumulating during S, G2, and M phases to prevent re-replication. It also plays roles in cell differentiation, neural development, and chromatin remodeling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of GMNN leads to genomic instability and tumor progression | PMID: 21573163 |
| Colorectal cancer | Elevated GMNN expression correlates with poor prognosis and increased proliferation | PMID: 23376921 |
| Lung cancer | GMNN upregulation promotes cell cycle dysregulation and oncogenesis | PMID: 25636873 |
| Hepatocellular carcinoma | GMNN overexpression associated with aggressive tumor features | PMID: 27485122 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.2 | Medium |
| Lymph node | 6.1 | Low |
| Brain | 2.3 | Low |
| Liver | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical cancer cell line |
| MCF7 | 12.8 | Breast cancer cell line |
| A549 | 10.1 | Lung cancer cell line |
| HEK293 | 7.4 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Unknown functional effect |
| c.214C>T | missense | <0.01% | Unknown functional effect |
| c.523G>A | missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in GMNN are rare and may impair replication licensing control, leading to genomic instability.
Gain of Function (GOF)
Gain-of-function mutations are not well characterized; overexpression is more commonly observed in cancers.
Dominant Negative (DN)
No dominant-negative mutations have been reported for GMNN.
View complete mutation data：
Gene Ontology (GO)
| • DNA replication initiation | • negative regulation of DNA replication |
| • cell cycle | • chromatin binding |
| • protein binding | • nucleus |
Pathways
• Cell cycle (KEGG hsa04110)
• DNA replication (KEGG hsa03030)
• G1/S transition of mitotic cell cycle
Protein Summary
Geminin is a 209-amino acid nuclear protein that inhibits DNA replication by sequestering CDT1, preventing the loading of the MCM helicase complex onto chromatin. It is essential for maintaining genome integrity by ensuring that DNA replication occurs only once per cell cycle. Geminin also participates in cell fate decisions during development, particularly in neural progenitor cells.
Related Services
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|---|---|---|---|---|
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