Gene Gene information from NCBI Gene database.
Entrez ID 51053
Gene name Geminin DNA replication inhibitor
Gene symbol GMNN
Synonyms (NCBI Gene)
GemMGORS6
Chromosome 6
Chromosome location 6p22.3
Summary 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-repli
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs864309486 A>T Pathogenic Stop gained, coding sequence variant, upstream transcript variant, genic upstream transcript variant
rs864309487 TCAA>- Pathogenic Frameshift variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant
rs864309488 A>G Pathogenic, likely-pathogenic Missense variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
89
miRTarBase ID miRNA Experiments Reference
MIRT006345 hsa-miR-449a Luciferase reporter assayWestern blot 21418558
MIRT006352 hsa-miR-449b-5p Luciferase reporter assayWestern blot 21418558
MIRT006345 hsa-miR-449a Luciferase reporter assayWestern blot 21418558
MIRT006352 hsa-miR-449b-5p Luciferase reporter assayWestern blot 21418558
MIRT006345 hsa-miR-449a Luciferase reporter assayWestern blot 21418558
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
35
GO ID Ontology Definition Evidence Reference
GO:0003682 Function Chromatin binding IDA 11125146
GO:0003714 Function Transcription corepressor activity IEA
GO:0005515 Function Protein binding IPI 11125146, 14993212, 15232106, 16482215, 17318181, 19906994, 20932478, 21543332, 21856198, 22581055, 22615398, 23708001, 25416956, 26496610, 27107012, 27229929, 28514442, 31515488, 32296183, 33961781
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 21543332, 24217620
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602842 17493 ENSG00000112312
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O75496
Protein name Geminin
Protein function Inhibits DNA replication by preventing the incorporation of MCM complex into pre-replication complex (pre-RC) (PubMed:14993212, PubMed:20129055, PubMed:24064211, PubMed:9635433). It is degraded during the mitotic phase of the cell cycle (PubMed:
PDB 1T6F , 1UII , 2LP0 , 2WVR , 4BRY , 7KLZ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07412 Geminin 1 184 Geminin Family
Sequence
Sequence length 209
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    CDT1 association with the CDC6:ORC:origin complex
Activation of the pre-replicative complex
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Meier-Gorlin syndrome Pathogenic; Likely pathogenic rs864309486, rs864309487, rs864309488 RCV000202433
RCV000202431
RCV000202432
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Meier-Gorlin syndrome 6 Pathogenic; Likely pathogenic rs864309486, rs864309487, rs864309488 RCV000208589
RCV000208583
RCV000208587
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CARCINOMA, HEPATOCELLULAR CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EAR, PATELLA, SHORT STATURE SYNDROME Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Coronary Syndrome Coronary Syndrome BEFREE 20035856
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 17555452, 20581313, 24755352, 25115891, 29907809, 31089287
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 28650455
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 31248612
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 28425853
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 27879189, 28422841
★☆☆☆☆
Found in Text Mining only
Adrenocortical Carcinoma Adrenocortical carcinoma Pubtator 36539849 Associate
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 20581313, 24755352
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 17476328
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 18515573
★☆☆☆☆
Found in Text Mining only