Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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

Show/Hide all (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

Show/Hide all (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
MIRT006352	hsa-miR-449b-5p	Luciferase reporter assayWestern blot	21418558
MIRT016570	hsa-miR-193b-3p	Microarray	20304954
MIRT029967	hsa-miR-26b-5p	Microarray	19088304
MIRT043150	hsa-miR-324-5p	CLASH	23622248
MIRT736047	hsa-miR-571	Immunoprecipitaion (IP)RNA-seq	31431461
MIRT1022703	hsa-miR-1182	CLIP-seq
MIRT1022704	hsa-miR-1256	CLIP-seq
MIRT1022705	hsa-miR-1283	CLIP-seq
MIRT1022706	hsa-miR-132	CLIP-seq
MIRT1022707	hsa-miR-155	CLIP-seq
MIRT1022708	hsa-miR-1915	CLIP-seq
MIRT1022709	hsa-miR-212	CLIP-seq
MIRT1022710	hsa-miR-221	CLIP-seq
MIRT1022711	hsa-miR-222	CLIP-seq
MIRT1022712	hsa-miR-23a	CLIP-seq
MIRT1022713	hsa-miR-23b	CLIP-seq
MIRT1022714	hsa-miR-23c	CLIP-seq
MIRT1022715	hsa-miR-3180-5p	CLIP-seq
MIRT1022716	hsa-miR-3664-5p	CLIP-seq
MIRT1022717	hsa-miR-3668	CLIP-seq
MIRT1022718	hsa-miR-3671	CLIP-seq
MIRT1022719	hsa-miR-3681	CLIP-seq
MIRT1022720	hsa-miR-376a	CLIP-seq
MIRT1022721	hsa-miR-376b	CLIP-seq
MIRT1022722	hsa-miR-376c	CLIP-seq
MIRT1022723	hsa-miR-3924	CLIP-seq
MIRT1022724	hsa-miR-4251	CLIP-seq
MIRT1022725	hsa-miR-4642	CLIP-seq
MIRT1022726	hsa-miR-4668-3p	CLIP-seq
MIRT1022727	hsa-miR-4703-3p	CLIP-seq
MIRT1022728	hsa-miR-4714-5p	CLIP-seq
MIRT1022729	hsa-miR-4715-5p	CLIP-seq
MIRT1022730	hsa-miR-4726-3p	CLIP-seq
MIRT1022731	hsa-miR-513c	CLIP-seq
MIRT1022732	hsa-miR-520a-5p	CLIP-seq
MIRT1022733	hsa-miR-520d-5p	CLIP-seq
MIRT1022734	hsa-miR-524-5p	CLIP-seq
MIRT1022735	hsa-miR-525-5p	CLIP-seq
MIRT1022736	hsa-miR-539	CLIP-seq
MIRT1022737	hsa-miR-548c-3p	CLIP-seq
MIRT1022738	hsa-miR-548v	CLIP-seq
MIRT1022739	hsa-miR-549	CLIP-seq
MIRT1022706	hsa-miR-132	CLIP-seq
MIRT1022709	hsa-miR-212	CLIP-seq
MIRT1022718	hsa-miR-3671	CLIP-seq
MIRT1022731	hsa-miR-513c	CLIP-seq
MIRT1022719	hsa-miR-3681	CLIP-seq
MIRT1022712	hsa-miR-23a	CLIP-seq
MIRT1022713	hsa-miR-23b	CLIP-seq
MIRT1022714	hsa-miR-23c	CLIP-seq
MIRT1022724	hsa-miR-4251	CLIP-seq
MIRT1022726	hsa-miR-4668-3p	CLIP-seq
MIRT1022736	hsa-miR-539	CLIP-seq
MIRT1022739	hsa-miR-549	CLIP-seq
MIRT1022703	hsa-miR-1182	CLIP-seq
MIRT1022707	hsa-miR-155	CLIP-seq
MIRT1022708	hsa-miR-1915	CLIP-seq
MIRT1022712	hsa-miR-23a	CLIP-seq
MIRT1022713	hsa-miR-23b	CLIP-seq
MIRT1022714	hsa-miR-23c	CLIP-seq
MIRT1022720	hsa-miR-376a	CLIP-seq
MIRT1022721	hsa-miR-376b	CLIP-seq
MIRT1022722	hsa-miR-376c	CLIP-seq
MIRT1022724	hsa-miR-4251	CLIP-seq
MIRT1022726	hsa-miR-4668-3p	CLIP-seq
MIRT1022730	hsa-miR-4726-3p	CLIP-seq
MIRT1022736	hsa-miR-539	CLIP-seq
MIRT1022737	hsa-miR-548c-3p	CLIP-seq
MIRT1022739	hsa-miR-549	CLIP-seq
MIRT1022703	hsa-miR-1182	CLIP-seq
MIRT1022707	hsa-miR-155	CLIP-seq
MIRT1022708	hsa-miR-1915	CLIP-seq
MIRT1022712	hsa-miR-23a	CLIP-seq
MIRT1022713	hsa-miR-23b	CLIP-seq
MIRT1022714	hsa-miR-23c	CLIP-seq
MIRT1022720	hsa-miR-376a	CLIP-seq
MIRT1022721	hsa-miR-376b	CLIP-seq
MIRT1022722	hsa-miR-376c	CLIP-seq
MIRT1022724	hsa-miR-4251	CLIP-seq
MIRT1022726	hsa-miR-4668-3p	CLIP-seq
MIRT1022730	hsa-miR-4726-3p	CLIP-seq
MIRT1022736	hsa-miR-539	CLIP-seq
MIRT1022737	hsa-miR-548c-3p	CLIP-seq
MIRT1022739	hsa-miR-549	CLIP-seq

Show/Hide all (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
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	19906994
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	21543332
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006275	Process	Regulation of DNA replication	IEA
GO:0006275	Process	Regulation of DNA replication	IMP	17234884
GO:0007346	Process	Regulation of mitotic cell cycle	IDA	21543332
GO:0008156	Process	Negative regulation of DNA replication	IDA	9635433
GO:0008156	Process	Negative regulation of DNA replication	IEA
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0017053	Component	Transcription repressor complex	IPI	22615398
GO:0017053	Component	Transcription repressor complex	ISS
GO:0030174	Process	Regulation of DNA-templated DNA replication initiation	IBA
GO:0030174	Process	Regulation of DNA-templated DNA replication initiation	IDA	24064211
GO:0030174	Process	Regulation of DNA-templated DNA replication initiation	IEA
GO:0035563	Process	Positive regulation of chromatin binding	IDA	11125146
GO:0042826	Function	Histone deacetylase binding	IPI	16924111
GO:0045786	Process	Negative regulation of cell cycle	IBA
GO:0045786	Process	Negative regulation of cell cycle	IDA	9635433, 19906994
GO:0045786	Process	Negative regulation of cell cycle	IEA
GO:0045786	Process	Negative regulation of cell cycle	NAS	22615398
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	16924111
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0065003	Process	Protein-containing complex assembly	IEA
GO:0071163	Process	DNA replication preinitiation complex assembly	IDA	11125146
GO:0140297	Function	DNA-binding transcription factor binding	IEA
GO:2000104	Process	Negative regulation of DNA-templated DNA replication	IDA	11125146, 19906994

MIM	HGNC	e!Ensembl
602842	17493	ENSG00000112312

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

MNPSMKQKQEEIKENIKNSSVPRRTLKMIQPSASGSLVGRENELSAGLSKRKHRNDHLTS
TTSSPGVIVPESSENKNLGGVTQESFDLMIKENPSSQYWKEVAEKRRKALYEALKENEKL
HKEIEQKDNEIARLKKENKELAEVAEHVQYMAELIERLNGEPLDNFESLDNQEFDSEEET
VEDSLVEDSEIGTCAEGTVSSSTDAKPCI

Sequence length

209

Interactions

View interactions

	Reactome
			CDT1 association with the CDC6:ORC:origin complex Activation of the pre-replicative complex

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Meier-Gorlin syndrome	Pathogenic; Likely pathogenic	rs864309486, rs864309487, rs864309488	RCV000202433 RCV000202431 RCV000202432
Meier-Gorlin syndrome 6	Pathogenic; Likely pathogenic	rs864309486, rs864309487, rs864309488	RCV000208589 RCV000208583 RCV000208587

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Clear cell carcinoma of kidney	Uncertain significance	rs201229321	RCV005910967
GMNN-related disorder	Benign; Likely benign	rs1923185, rs148482261, rs2307302	RCV003980472 RCV003961497 RCV003960859
Uterine corpus endometrial carcinoma	Uncertain significance	rs757212388	RCV005931366

Show/Hide Text Mining Associations (28)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adrenocortical Carcinoma	Associate	36539849
Aneuploidy	Stimulate	19920109
Aneuploidy	Associate	21595939
Astrocytoma	Associate	17262828
Breast Neoplasms	Associate	16278669, 24789045, 26205655, 28886153, 40141282
Carcinogenesis	Associate	24980480
Carcinoma Hepatocellular	Associate	34238253
Carcinoma Renal Cell	Associate	15814627
Colorectal Neoplasms	Associate	25634203
Diarrhea 5 With Tufting Enteropathy Congenital	Associate	19293805
Glioblastoma	Associate	17262828
Hypomagnesemia primary	Associate	28658133
Meier Gorlin syndrome	Associate	26637980, 27374770, 28198391, 29036220
Melanoma	Associate	17597816, 22652151
Mouth Neoplasms	Associate	28135012
Neoplasm Invasiveness	Associate	24789045
Neoplasm Metastasis	Stimulate	36539849
Neoplasms	Associate	12107111, 12242660, 12819026, 15159417, 16278669, 16738325, 17716975, 19293805, 19487297, 19920109, 21639956, 24789045, 28032719, 28135012, 28886153, 34579737 View all (1 more)
Ovarian Diseases	Associate	36807748
Ovarian Neoplasms	Associate	36807748
Panic Disorder	Associate	31754096
Pituitary dwarfism 1	Associate	26637980
Prostatic Neoplasms	Associate	17406359
Squamous Cell Carcinoma of Head and Neck	Associate	19293805, 27584664, 28032719, 31391008
Squamous Intraepithelial Lesions	Associate	34874226
Tertiary Lymphoid Structures	Associate	27761967
Triple Negative Breast Neoplasms	Associate	24789045
Uterine Cervical Dysplasia	Associate	28658133

GMNN (geminin DNA replication inhibitor)